CINXE.COM

<!DOCTYPE html> <html class="client-nojs vector-feature-language-in-header-enabled vector-feature-language-in-main-page-header-disabled vector-feature-sticky-header-disabled vector-feature-page-tools-pinned-disabled vector-feature-toc-pinned-clientpref-1 vector-feature-main-menu-pinned-disabled vector-feature-limited-width-clientpref-1 vector-feature-limited-width-content-enabled vector-feature-custom-font-size-clientpref-1 vector-feature-appearance-pinned-clientpref-1 vector-feature-night-mode-enabled skin-theme-clientpref-day vector-toc-available" lang="en" dir="ltr"> <head> <meta charset="UTF-8"> <title>Noonan syndrome - Wikipedia</title> <script>(function(){var className="client-js vector-feature-language-in-header-enabled vector-feature-language-in-main-page-header-disabled vector-feature-sticky-header-disabled vector-feature-page-tools-pinned-disabled vector-feature-toc-pinned-clientpref-1 vector-feature-main-menu-pinned-disabled vector-feature-limited-width-clientpref-1 vector-feature-limited-width-content-enabled vector-feature-custom-font-size-clientpref-1 vector-feature-appearance-pinned-clientpref-1 vector-feature-night-mode-enabled skin-theme-clientpref-day vector-toc-available";var cookie=document.cookie.match(/(?:^|; )enwikimwclientpreferences=([^;]+)/);if(cookie){cookie[1].split('%2C').forEach(function(pref){className=className.replace(new RegExp('(^| )'+pref.replace(/-clientpref-\w+$|[^\w-]+/g,'')+'-clientpref-\\w+( |$)'),'$1'+pref+'$2');});}document.documentElement.className=className;}());RLCONF={"wgBreakFrames":false,"wgSeparatorTransformTable":["",""],"wgDigitTransformTable":["",""],"wgDefaultDateFormat":"dmy", "wgMonthNames":["","January","February","March","April","May","June","July","August","September","October","November","December"],"wgRequestId":"00f7cc20-073c-4b3e-964d-110f8fe65d7e","wgCanonicalNamespace":"","wgCanonicalSpecialPageName":false,"wgNamespaceNumber":0,"wgPageName":"Noonan_syndrome","wgTitle":"Noonan syndrome","wgCurRevisionId":1245618416,"wgRevisionId":1245618416,"wgArticleId":988477,"wgIsArticle":true,"wgIsRedirect":false,"wgAction":"view","wgUserName":null,"wgUserGroups":["*"],"wgCategories":["Articles with short description","Short description is different from Wikidata","Articles needing additional references from August 2021","All articles needing additional references","Commons category link is on Wikidata","Wikipedia medicine articles ready to translate","Autosomal dominant disorders","Syndromes affecting the heart","Genodermatoses","Enzyme defects","RASopathies","Congenital heart defects","Syndromes affecting stature","Syndromic autism", "Diseases named after discoverers","Audiology"],"wgPageViewLanguage":"en","wgPageContentLanguage":"en","wgPageContentModel":"wikitext","wgRelevantPageName":"Noonan_syndrome","wgRelevantArticleId":988477,"wgIsProbablyEditable":true,"wgRelevantPageIsProbablyEditable":true,"wgRestrictionEdit":[],"wgRestrictionMove":[],"wgNoticeProject":"wikipedia","wgCiteReferencePreviewsActive":false,"wgFlaggedRevsParams":{"tags":{"status":{"levels":1}}},"wgMediaViewerOnClick":true,"wgMediaViewerEnabledByDefault":true,"wgPopupsFlags":0,"wgVisualEditor":{"pageLanguageCode":"en","pageLanguageDir":"ltr","pageVariantFallbacks":"en"},"wgMFDisplayWikibaseDescriptions":{"search":true,"watchlist":true,"tagline":false,"nearby":true},"wgWMESchemaEditAttemptStepOversample":false,"wgWMEPageLength":40000,"wgRelatedArticlesCompat":[],"wgCentralAuthMobileDomain":false,"wgEditSubmitButtonLabelPublish":true,"wgULSPosition":"interlanguage","wgULSisCompactLinksEnabled":false,"wgVector2022LanguageInHeader":true, "wgULSisLanguageSelectorEmpty":false,"wgWikibaseItemId":"Q1543446","wgCheckUserClientHintsHeadersJsApi":["brands","architecture","bitness","fullVersionList","mobile","model","platform","platformVersion"],"GEHomepageSuggestedEditsEnableTopics":true,"wgGETopicsMatchModeEnabled":false,"wgGEStructuredTaskRejectionReasonTextInputEnabled":false,"wgGELevelingUpEnabledForUser":false};RLSTATE={"ext.globalCssJs.user.styles":"ready","site.styles":"ready","user.styles":"ready","ext.globalCssJs.user":"ready","user":"ready","user.options":"loading","ext.cite.styles":"ready","skins.vector.search.codex.styles":"ready","skins.vector.styles":"ready","skins.vector.icons":"ready","jquery.makeCollapsible.styles":"ready","ext.wikimediamessages.styles":"ready","ext.visualEditor.desktopArticleTarget.noscript":"ready","ext.uls.interlanguage":"ready","wikibase.client.init":"ready","ext.wikimediaBadges":"ready"};RLPAGEMODULES=["ext.cite.ux-enhancements","mediawiki.page.media","site","mediawiki.page.ready", "jquery.makeCollapsible","mediawiki.toc","skins.vector.js","ext.centralNotice.geoIP","ext.centralNotice.startUp","ext.gadget.ReferenceTooltips","ext.gadget.switcher","ext.urlShortener.toolbar","ext.centralauth.centralautologin","mmv.bootstrap","ext.popups","ext.visualEditor.desktopArticleTarget.init","ext.visualEditor.targetLoader","ext.echo.centralauth","ext.eventLogging","ext.wikimediaEvents","ext.navigationTiming","ext.uls.interface","ext.cx.eventlogging.campaigns","ext.cx.uls.quick.actions","wikibase.client.vector-2022","ext.checkUser.clientHints","ext.growthExperiments.SuggestedEditSession","wikibase.sidebar.tracking"];</script> <script>(RLQ=window.RLQ||[]).push(function(){mw.loader.impl(function(){return["user.options@12s5i",function($,jQuery,require,module){mw.user.tokens.set({"patrolToken":"+\\","watchToken":"+\\","csrfToken":"+\\"}); }];});});</script> <link rel="stylesheet" href="/w/load.php?lang=en&modules=ext.cite.styles%7Cext.uls.interlanguage%7Cext.visualEditor.desktopArticleTarget.noscript%7Cext.wikimediaBadges%7Cext.wikimediamessages.styles%7Cjquery.makeCollapsible.styles%7Cskins.vector.icons%2Cstyles%7Cskins.vector.search.codex.styles%7Cwikibase.client.init&only=styles&skin=vector-2022"> <script async="" src="/w/load.php?lang=en&modules=startup&only=scripts&raw=1&skin=vector-2022"></script> <meta name="ResourceLoaderDynamicStyles" content=""> <link rel="stylesheet" href="/w/load.php?lang=en&modules=site.styles&only=styles&skin=vector-2022"> <meta name="generator" content="MediaWiki 1.44.0-wmf.4"> <meta name="referrer" content="origin"> <meta name="referrer" content="origin-when-cross-origin"> <meta name="robots" content="max-image-preview:standard"> <meta name="format-detection" content="telephone=no"> <meta property="og:image" content="https://upload.wikimedia.org/wikipedia/commons/6/69/Noonan_syndrome.PNG"> <meta property="og:image:width" content="1200"> <meta property="og:image:height" content="1028"> <meta property="og:image" content="https://upload.wikimedia.org/wikipedia/commons/6/69/Noonan_syndrome.PNG"> <meta property="og:image:width" content="800"> <meta property="og:image:height" content="685"> <meta property="og:image" content="https://upload.wikimedia.org/wikipedia/commons/thumb/6/69/Noonan_syndrome.PNG/640px-Noonan_syndrome.PNG"> <meta property="og:image:width" content="640"> <meta property="og:image:height" content="548"> <meta name="viewport" content="width=1120"> <meta property="og:title" content="Noonan syndrome - Wikipedia"> <meta property="og:type" content="website"> <link rel="preconnect" href="//upload.wikimedia.org"> <link rel="alternate" media="only screen and (max-width: 640px)" href="//en.m.wikipedia.org/wiki/Noonan_syndrome"> <link rel="alternate" type="application/x-wiki" title="Edit this page" href="/w/index.php?title=Noonan_syndrome&action=edit"> <link rel="apple-touch-icon" href="/static/apple-touch/wikipedia.png"> <link rel="icon" href="/static/favicon/wikipedia.ico"> <link rel="search" type="application/opensearchdescription+xml" href="/w/rest.php/v1/search" title="Wikipedia (en)"> <link rel="EditURI" type="application/rsd+xml" href="//en.wikipedia.org/w/api.php?action=rsd"> <link rel="canonical" href="https://en.wikipedia.org/wiki/Noonan_syndrome"> <link rel="license" href="https://creativecommons.org/licenses/by-sa/4.0/deed.en"> <link rel="alternate" type="application/atom+xml" title="Wikipedia Atom feed" href="/w/index.php?title=Special:RecentChanges&feed=atom"> <link rel="dns-prefetch" href="//meta.wikimedia.org" /> <link rel="dns-prefetch" href="//login.wikimedia.org"> </head> <body class="skin--responsive skin-vector skin-vector-search-vue mediawiki ltr sitedir-ltr mw-hide-empty-elt ns-0 ns-subject mw-editable page-Noonan_syndrome rootpage-Noonan_syndrome skin-vector-2022 action-view"><a class="mw-jump-link" href="#bodyContent">Jump to content</a> <div class="vector-header-container"> <header class="vector-header mw-header"> <div class="vector-header-start"> <nav class="vector-main-menu-landmark" aria-label="Site"> <div id="vector-main-menu-dropdown" class="vector-dropdown vector-main-menu-dropdown vector-button-flush-left vector-button-flush-right" > <input type="checkbox" id="vector-main-menu-dropdown-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-vector-main-menu-dropdown" class="vector-dropdown-checkbox " aria-label="Main menu" > <label id="vector-main-menu-dropdown-label" for="vector-main-menu-dropdown-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--icon-only " aria-hidden="true" ><span class="vector-icon mw-ui-icon-menu mw-ui-icon-wikimedia-menu"></span> <span class="vector-dropdown-label-text">Main menu</span> </label> <div class="vector-dropdown-content"> <div id="vector-main-menu-unpinned-container" class="vector-unpinned-container"> <div id="vector-main-menu" class="vector-main-menu vector-pinnable-element"> <div class="vector-pinnable-header vector-main-menu-pinnable-header vector-pinnable-header-unpinned" data-feature-name="main-menu-pinned" data-pinnable-element-id="vector-main-menu" data-pinned-container-id="vector-main-menu-pinned-container" data-unpinned-container-id="vector-main-menu-unpinned-container" > <div class="vector-pinnable-header-label">Main menu</div> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-pin-button" data-event-name="pinnable-header.vector-main-menu.pin">move to sidebar</button> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-unpin-button" data-event-name="pinnable-header.vector-main-menu.unpin">hide</button> </div> <div id="p-navigation" class="vector-menu mw-portlet mw-portlet-navigation" > <div class="vector-menu-heading"> Navigation </div> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="n-mainpage-description" class="mw-list-item"><a href="/wiki/Main_Page" title="Visit the main page [z]" accesskey="z"><span>Main page</span></a></li><li id="n-contents" class="mw-list-item"><a href="/wiki/Wikipedia:Contents" title="Guides to browsing Wikipedia"><span>Contents</span></a></li><li id="n-currentevents" class="mw-list-item"><a href="/wiki/Portal:Current_events" title="Articles related to current events"><span>Current events</span></a></li><li id="n-randompage" class="mw-list-item"><a href="/wiki/Special:Random" title="Visit a randomly selected article [x]" accesskey="x"><span>Random article</span></a></li><li id="n-aboutsite" class="mw-list-item"><a href="/wiki/Wikipedia:About" title="Learn about Wikipedia and how it works"><span>About Wikipedia</span></a></li><li id="n-contactpage" class="mw-list-item"><a href="//en.wikipedia.org/wiki/Wikipedia:Contact_us" title="How to contact Wikipedia"><span>Contact us</span></a></li> </ul> </div> </div> <div id="p-interaction" class="vector-menu mw-portlet mw-portlet-interaction" > <div class="vector-menu-heading"> Contribute </div> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="n-help" class="mw-list-item"><a href="/wiki/Help:Contents" title="Guidance on how to use and edit Wikipedia"><span>Help</span></a></li><li id="n-introduction" class="mw-list-item"><a href="/wiki/Help:Introduction" title="Learn how to edit Wikipedia"><span>Learn to edit</span></a></li><li id="n-portal" class="mw-list-item"><a href="/wiki/Wikipedia:Community_portal" title="The hub for editors"><span>Community portal</span></a></li><li id="n-recentchanges" class="mw-list-item"><a href="/wiki/Special:RecentChanges" title="A list of recent changes to Wikipedia [r]" accesskey="r"><span>Recent changes</span></a></li><li id="n-upload" class="mw-list-item"><a href="/wiki/Wikipedia:File_upload_wizard" title="Add images or other media for use on Wikipedia"><span>Upload file</span></a></li> </ul> </div> </div> </div> </div> </div> </div> </nav> <a href="/wiki/Main_Page" class="mw-logo"> <img class="mw-logo-icon" src="/static/images/icons/wikipedia.png" alt="" aria-hidden="true" height="50" width="50"> <span class="mw-logo-container skin-invert"> <img class="mw-logo-wordmark" alt="Wikipedia" src="/static/images/mobile/copyright/wikipedia-wordmark-en.svg" style="width: 7.5em; height: 1.125em;"> <img class="mw-logo-tagline" alt="The Free Encyclopedia" src="/static/images/mobile/copyright/wikipedia-tagline-en.svg" width="117" height="13" style="width: 7.3125em; height: 0.8125em;"> </span> </a> </div> <div class="vector-header-end"> <div id="p-search" role="search" class="vector-search-box-vue vector-search-box-collapses vector-search-box-show-thumbnail vector-search-box-auto-expand-width vector-search-box"> <a href="/wiki/Special:Search" class="cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--icon-only search-toggle" title="Search Wikipedia [f]" accesskey="f"><span class="vector-icon mw-ui-icon-search mw-ui-icon-wikimedia-search"></span> <span>Search</span> </a> <div class="vector-typeahead-search-container"> <div class="cdx-typeahead-search cdx-typeahead-search--show-thumbnail cdx-typeahead-search--auto-expand-width"> <form action="/w/index.php" id="searchform" class="cdx-search-input cdx-search-input--has-end-button"> <div id="simpleSearch" class="cdx-search-input__input-wrapper" data-search-loc="header-moved"> <div class="cdx-text-input cdx-text-input--has-start-icon"> <input class="cdx-text-input__input" type="search" name="search" placeholder="Search Wikipedia" aria-label="Search Wikipedia" autocapitalize="sentences" title="Search Wikipedia [f]" accesskey="f" id="searchInput" > <span class="cdx-text-input__icon cdx-text-input__start-icon"></span> </div> <input type="hidden" name="title" value="Special:Search"> </div> <button class="cdx-button cdx-search-input__end-button">Search</button> </form> </div> </div> </div> <nav class="vector-user-links vector-user-links-wide" aria-label="Personal tools"> <div class="vector-user-links-main"> <div id="p-vector-user-menu-preferences" class="vector-menu mw-portlet emptyPortlet" > <div class="vector-menu-content"> <ul class="vector-menu-content-list"> </ul> </div> </div> <div id="p-vector-user-menu-userpage" class="vector-menu mw-portlet emptyPortlet" > <div class="vector-menu-content"> <ul class="vector-menu-content-list"> </ul> </div> </div> <nav class="vector-appearance-landmark" aria-label="Appearance"> <div id="vector-appearance-dropdown" class="vector-dropdown " title="Change the appearance of the page's font size, width, and color" > <input type="checkbox" id="vector-appearance-dropdown-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-vector-appearance-dropdown" class="vector-dropdown-checkbox " aria-label="Appearance" > <label id="vector-appearance-dropdown-label" for="vector-appearance-dropdown-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--icon-only " aria-hidden="true" ><span class="vector-icon mw-ui-icon-appearance mw-ui-icon-wikimedia-appearance"></span> <span class="vector-dropdown-label-text">Appearance</span> </label> <div class="vector-dropdown-content"> <div id="vector-appearance-unpinned-container" class="vector-unpinned-container"> </div> </div> </div> </nav> <div id="p-vector-user-menu-notifications" class="vector-menu mw-portlet emptyPortlet" > <div class="vector-menu-content"> <ul class="vector-menu-content-list"> </ul> </div> </div> <div id="p-vector-user-menu-overflow" class="vector-menu mw-portlet" > <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="pt-sitesupport-2" class="user-links-collapsible-item mw-list-item user-links-collapsible-item"><a data-mw="interface" href="https://donate.wikimedia.org/wiki/Special:FundraiserRedirector?utm_source=donate&utm_medium=sidebar&utm_campaign=C13_en.wikipedia.org&uselang=en" class=""><span>Donate</span></a> </li> <li id="pt-createaccount-2" class="user-links-collapsible-item mw-list-item user-links-collapsible-item"><a data-mw="interface" href="/w/index.php?title=Special:CreateAccount&returnto=Noonan+syndrome" title="You are encouraged to create an account and log in; however, it is not mandatory" class=""><span>Create account</span></a> </li> <li id="pt-login-2" class="user-links-collapsible-item mw-list-item user-links-collapsible-item"><a data-mw="interface" href="/w/index.php?title=Special:UserLogin&returnto=Noonan+syndrome" title="You're encouraged to log in; however, it's not mandatory. [o]" accesskey="o" class=""><span>Log in</span></a> </li> </ul> </div> </div> </div> <div id="vector-user-links-dropdown" class="vector-dropdown vector-user-menu vector-button-flush-right vector-user-menu-logged-out" title="Log in and more options" > <input type="checkbox" id="vector-user-links-dropdown-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-vector-user-links-dropdown" class="vector-dropdown-checkbox " aria-label="Personal tools" > <label id="vector-user-links-dropdown-label" for="vector-user-links-dropdown-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--icon-only " aria-hidden="true" ><span class="vector-icon mw-ui-icon-ellipsis mw-ui-icon-wikimedia-ellipsis"></span> <span class="vector-dropdown-label-text">Personal tools</span> </label> <div class="vector-dropdown-content"> <div id="p-personal" class="vector-menu mw-portlet mw-portlet-personal user-links-collapsible-item" title="User menu" > <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="pt-sitesupport" class="user-links-collapsible-item mw-list-item"><a href="https://donate.wikimedia.org/wiki/Special:FundraiserRedirector?utm_source=donate&utm_medium=sidebar&utm_campaign=C13_en.wikipedia.org&uselang=en"><span>Donate</span></a></li><li id="pt-createaccount" class="user-links-collapsible-item mw-list-item"><a href="/w/index.php?title=Special:CreateAccount&returnto=Noonan+syndrome" title="You are encouraged to create an account and log in; however, it is not mandatory"><span class="vector-icon mw-ui-icon-userAdd mw-ui-icon-wikimedia-userAdd"></span> <span>Create account</span></a></li><li id="pt-login" class="user-links-collapsible-item mw-list-item"><a href="/w/index.php?title=Special:UserLogin&returnto=Noonan+syndrome" title="You're encouraged to log in; however, it's not mandatory. [o]" accesskey="o"><span class="vector-icon mw-ui-icon-logIn mw-ui-icon-wikimedia-logIn"></span> <span>Log in</span></a></li> </ul> </div> </div> <div id="p-user-menu-anon-editor" class="vector-menu mw-portlet mw-portlet-user-menu-anon-editor" > <div class="vector-menu-heading"> Pages for logged out editors <a href="/wiki/Help:Introduction" aria-label="Learn more about editing"><span>learn more</span></a> </div> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="pt-anoncontribs" class="mw-list-item"><a href="/wiki/Special:MyContributions" title="A list of edits made from this IP address [y]" accesskey="y"><span>Contributions</span></a></li><li id="pt-anontalk" class="mw-list-item"><a href="/wiki/Special:MyTalk" title="Discussion about edits from this IP address [n]" accesskey="n"><span>Talk</span></a></li> </ul> </div> </div> </div> </div> </nav> </div> </header> </div> <div class="mw-page-container"> <div class="mw-page-container-inner"> <div class="vector-sitenotice-container"> <div id="siteNotice"></div> </div> <div class="vector-column-start"> <div class="vector-main-menu-container"> <div id="mw-navigation"> <nav id="mw-panel" class="vector-main-menu-landmark" aria-label="Site"> <div id="vector-main-menu-pinned-container" class="vector-pinned-container"> </div> </nav> </div> </div> <div class="vector-sticky-pinned-container"> <nav id="mw-panel-toc" aria-label="Contents" data-event-name="ui.sidebar-toc" class="mw-table-of-contents-container vector-toc-landmark"> <div id="vector-toc-pinned-container" class="vector-pinned-container"> <div id="vector-toc" class="vector-toc vector-pinnable-element"> <div class="vector-pinnable-header vector-toc-pinnable-header vector-pinnable-header-pinned" data-feature-name="toc-pinned" data-pinnable-element-id="vector-toc" > <h2 class="vector-pinnable-header-label">Contents</h2> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-pin-button" data-event-name="pinnable-header.vector-toc.pin">move to sidebar</button> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-unpin-button" data-event-name="pinnable-header.vector-toc.unpin">hide</button> </div> <ul class="vector-toc-contents" id="mw-panel-toc-list"> <li id="toc-mw-content-text" class="vector-toc-list-item vector-toc-level-1"> <a href="#" class="vector-toc-link"> <div class="vector-toc-text">(Top)</div> </a> </li> <li id="toc-Signs_and_symptoms" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Signs_and_symptoms"> <div class="vector-toc-text"> <span class="vector-toc-numb">1</span> <span>Signs and symptoms</span> </div> </a> <button aria-controls="toc-Signs_and_symptoms-sublist" class="cdx-button cdx-button--weight-quiet cdx-button--icon-only vector-toc-toggle"> <span class="vector-icon mw-ui-icon-wikimedia-expand"></span> <span>Toggle Signs and symptoms subsection</span> </button> <ul id="toc-Signs_and_symptoms-sublist" class="vector-toc-list"> <li id="toc-Head" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Head"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.1</span> <span>Head</span> </div> </a> <ul id="toc-Head-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Skin" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Skin"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.2</span> <span>Skin</span> </div> </a> <ul id="toc-Skin-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Musculoskeletal" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Musculoskeletal"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.3</span> <span>Musculoskeletal</span> </div> </a> <ul id="toc-Musculoskeletal-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Heart" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Heart"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.4</span> <span>Heart</span> </div> </a> <ul id="toc-Heart-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Lungs" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Lungs"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.5</span> <span>Lungs</span> </div> </a> <ul id="toc-Lungs-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Gastrointestinal" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Gastrointestinal"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.6</span> <span>Gastrointestinal</span> </div> </a> <ul id="toc-Gastrointestinal-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Genitourinary_system" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Genitourinary_system"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.7</span> <span>Genitourinary system</span> </div> </a> <ul id="toc-Genitourinary_system-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Circulation" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Circulation"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.8</span> <span>Circulation</span> </div> </a> <ul id="toc-Circulation-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Neurological_and_cognitive_impairment" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Neurological_and_cognitive_impairment"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.9</span> <span>Neurological and cognitive impairment</span> </div> </a> <ul id="toc-Neurological_and_cognitive_impairment-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Bleeding_disorders" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Bleeding_disorders"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.10</span> <span>Bleeding disorders</span> </div> </a> <ul id="toc-Bleeding_disorders-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Causes" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Causes"> <div class="vector-toc-text"> <span class="vector-toc-numb">2</span> <span>Causes</span> </div> </a> <button aria-controls="toc-Causes-sublist" class="cdx-button cdx-button--weight-quiet cdx-button--icon-only vector-toc-toggle"> <span class="vector-icon mw-ui-icon-wikimedia-expand"></span> <span>Toggle Causes subsection</span> </button> <ul id="toc-Causes-sublist" class="vector-toc-list"> <li id="toc-Correlations_between_phenotype_and_genotype" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Correlations_between_phenotype_and_genotype"> <div class="vector-toc-text"> <span class="vector-toc-numb">2.1</span> <span>Correlations between phenotype and genotype</span> </div> </a> <ul id="toc-Correlations_between_phenotype_and_genotype-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Diagnosis" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Diagnosis"> <div class="vector-toc-text"> <span class="vector-toc-numb">3</span> <span>Diagnosis</span> </div> </a> <button aria-controls="toc-Diagnosis-sublist" class="cdx-button cdx-button--weight-quiet cdx-button--icon-only vector-toc-toggle"> <span class="vector-icon mw-ui-icon-wikimedia-expand"></span> <span>Toggle Diagnosis subsection</span> </button> <ul id="toc-Diagnosis-sublist" class="vector-toc-list"> <li id="toc-Before_birth" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Before_birth"> <div class="vector-toc-text"> <span class="vector-toc-numb">3.1</span> <span>Before birth</span> </div> </a> <ul id="toc-Before_birth-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Differential_diagnosis" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Differential_diagnosis"> <div class="vector-toc-text"> <span class="vector-toc-numb">3.2</span> <span>Differential diagnosis</span> </div> </a> <ul id="toc-Differential_diagnosis-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Management" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Management"> <div class="vector-toc-text"> <span class="vector-toc-numb">4</span> <span>Management</span> </div> </a> <button aria-controls="toc-Management-sublist" class="cdx-button cdx-button--weight-quiet cdx-button--icon-only vector-toc-toggle"> <span class="vector-icon mw-ui-icon-wikimedia-expand"></span> <span>Toggle Management subsection</span> </button> <ul id="toc-Management-sublist" class="vector-toc-list"> <li id="toc-Anesthesia_risk" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Anesthesia_risk"> <div class="vector-toc-text"> <span class="vector-toc-numb">4.1</span> <span>Anesthesia risk</span> </div> </a> <ul id="toc-Anesthesia_risk-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Prognosis" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Prognosis"> <div class="vector-toc-text"> <span class="vector-toc-numb">5</span> <span>Prognosis</span> </div> </a> <ul id="toc-Prognosis-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-History" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#History"> <div class="vector-toc-text"> <span class="vector-toc-numb">6</span> <span>History</span> </div> </a> <ul id="toc-History-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-See_also" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#See_also"> <div class="vector-toc-text"> <span class="vector-toc-numb">7</span> <span>See also</span> </div> </a> <ul id="toc-See_also-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-References" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#References"> <div class="vector-toc-text"> <span class="vector-toc-numb">8</span> <span>References</span> </div> </a> <ul id="toc-References-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-External_links" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#External_links"> <div class="vector-toc-text"> <span class="vector-toc-numb">9</span> <span>External links</span> </div> </a> <ul id="toc-External_links-sublist" class="vector-toc-list"> </ul> </li> </ul> </div> </div> </nav> </div> </div> <div class="mw-content-container"> <main id="content" class="mw-body"> <header class="mw-body-header vector-page-titlebar"> <nav aria-label="Contents" class="vector-toc-landmark"> <div id="vector-page-titlebar-toc" class="vector-dropdown vector-page-titlebar-toc vector-button-flush-left" > <input type="checkbox" id="vector-page-titlebar-toc-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-vector-page-titlebar-toc" class="vector-dropdown-checkbox " aria-label="Toggle the table of contents" > <label id="vector-page-titlebar-toc-label" for="vector-page-titlebar-toc-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--icon-only " aria-hidden="true" ><span class="vector-icon mw-ui-icon-listBullet mw-ui-icon-wikimedia-listBullet"></span> <span class="vector-dropdown-label-text">Toggle the table of contents</span> </label> <div class="vector-dropdown-content"> <div id="vector-page-titlebar-toc-unpinned-container" class="vector-unpinned-container"> </div> </div> </div> </nav> <h1 id="firstHeading" class="firstHeading mw-first-heading"><span class="mw-page-title-main">Noonan syndrome</span></h1> <div id="p-lang-btn" class="vector-dropdown mw-portlet mw-portlet-lang" > <input type="checkbox" id="p-lang-btn-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-p-lang-btn" class="vector-dropdown-checkbox mw-interlanguage-selector" aria-label="Go to an article in another language. Available in 26 languages" > <label id="p-lang-btn-label" for="p-lang-btn-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--action-progressive mw-portlet-lang-heading-26" aria-hidden="true" ><span class="vector-icon mw-ui-icon-language-progressive mw-ui-icon-wikimedia-language-progressive"></span> <span class="vector-dropdown-label-text">26 languages</span> </label> <div class="vector-dropdown-content"> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li class="interlanguage-link interwiki-ar mw-list-item"><a href="https://ar.wikipedia.org/wiki/%D9%85%D8%AA%D9%84%D8%A7%D8%B2%D9%85%D8%A9_%D9%86%D9%88%D9%86%D8%A7%D9%86" title="متلازمة نونان – Arabic" lang="ar" hreflang="ar" data-title="متلازمة نونان" data-language-autonym="العربية" data-language-local-name="Arabic" class="interlanguage-link-target"><span>العربية</span></a></li><li class="interlanguage-link interwiki-bs mw-list-item"><a href="https://bs.wikipedia.org/wiki/Noonanin_sindrom" title="Noonanin sindrom – Bosnian" lang="bs" hreflang="bs" data-title="Noonanin sindrom" data-language-autonym="Bosanski" data-language-local-name="Bosnian" class="interlanguage-link-target"><span>Bosanski</span></a></li><li class="interlanguage-link interwiki-ca mw-list-item"><a href="https://ca.wikipedia.org/wiki/S%C3%ADndrome_de_Noonan" title="Síndrome de Noonan – Catalan" lang="ca" hreflang="ca" data-title="Síndrome de Noonan" data-language-autonym="Català" data-language-local-name="Catalan" class="interlanguage-link-target"><span>Català</span></a></li><li class="interlanguage-link interwiki-de mw-list-item"><a href="https://de.wikipedia.org/wiki/Noonan-Syndrom" title="Noonan-Syndrom – German" lang="de" hreflang="de" data-title="Noonan-Syndrom" data-language-autonym="Deutsch" data-language-local-name="German" class="interlanguage-link-target"><span>Deutsch</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/S%C3%ADndrome_de_Noonan" title="Síndrome de Noonan – Spanish" lang="es" hreflang="es" data-title="Síndrome de Noonan" data-language-autonym="Español" data-language-local-name="Spanish" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-fa mw-list-item"><a href="https://fa.wikipedia.org/wiki/%D8%B3%D9%86%D8%AF%D8%B1%D9%85_%D9%86%D9%88%D9%86%D8%A7%D9%86" title="سندرم نونان – Persian" lang="fa" hreflang="fa" data-title="سندرم نونان" data-language-autonym="فارسی" data-language-local-name="Persian" class="interlanguage-link-target"><span>فارسی</span></a></li><li class="interlanguage-link interwiki-fr mw-list-item"><a href="https://fr.wikipedia.org/wiki/Syndrome_de_Noonan" title="Syndrome de Noonan – French" lang="fr" hreflang="fr" data-title="Syndrome de Noonan" data-language-autonym="Français" data-language-local-name="French" class="interlanguage-link-target"><span>Français</span></a></li><li class="interlanguage-link interwiki-ko mw-list-item"><a href="https://ko.wikipedia.org/wiki/%EB%88%84%EB%82%9C_%EC%A6%9D%ED%9B%84%EA%B5%B0" title="누난 증후군 – Korean" lang="ko" hreflang="ko" data-title="누난 증후군" data-language-autonym="한국어" data-language-local-name="Korean" class="interlanguage-link-target"><span>한국어</span></a></li><li class="interlanguage-link interwiki-it mw-list-item"><a href="https://it.wikipedia.org/wiki/Sindrome_di_Noonan" title="Sindrome di Noonan – Italian" lang="it" hreflang="it" data-title="Sindrome di Noonan" data-language-autonym="Italiano" data-language-local-name="Italian" class="interlanguage-link-target"><span>Italiano</span></a></li><li class="interlanguage-link interwiki-he mw-list-item"><a href="https://he.wikipedia.org/wiki/%D7%AA%D7%A1%D7%9E%D7%95%D7%A0%D7%AA_%D7%A0%D7%95%D7%A0%D7%90%D7%9F" title="תסמונת נונאן – Hebrew" lang="he" hreflang="he" data-title="תסמונת נונאן" data-language-autonym="עברית" data-language-local-name="Hebrew" class="interlanguage-link-target"><span>עברית</span></a></li><li class="interlanguage-link interwiki-kk mw-list-item"><a href="https://kk.wikipedia.org/wiki/%D0%9D%D1%83%D0%BD%D0%B0%D0%BD_%D1%81%D0%B8%D0%BD%D0%B4%D1%80%D0%BE%D0%BC%D1%8B" title="Нунан синдромы – Kazakh" lang="kk" hreflang="kk" data-title="Нунан синдромы" data-language-autonym="Қазақша" data-language-local-name="Kazakh" class="interlanguage-link-target"><span>Қазақша</span></a></li><li class="interlanguage-link interwiki-hu mw-list-item"><a href="https://hu.wikipedia.org/wiki/Noonan-szindr%C3%B3ma" title="Noonan-szindróma – Hungarian" lang="hu" hreflang="hu" data-title="Noonan-szindróma" data-language-autonym="Magyar" data-language-local-name="Hungarian" class="interlanguage-link-target"><span>Magyar</span></a></li><li class="interlanguage-link interwiki-nl mw-list-item"><a href="https://nl.wikipedia.org/wiki/Syndroom_van_Noonan" title="Syndroom van Noonan – Dutch" lang="nl" hreflang="nl" data-title="Syndroom van Noonan" data-language-autonym="Nederlands" data-language-local-name="Dutch" class="interlanguage-link-target"><span>Nederlands</span></a></li><li class="interlanguage-link interwiki-ja mw-list-item"><a href="https://ja.wikipedia.org/wiki/%E3%83%8C%E3%83%BC%E3%83%8A%E3%83%B3%E7%97%87%E5%80%99%E7%BE%A4" title="ヌーナン症候群 – Japanese" lang="ja" hreflang="ja" data-title="ヌーナン症候群" data-language-autonym="日本語" data-language-local-name="Japanese" class="interlanguage-link-target"><span>日本語</span></a></li><li class="interlanguage-link interwiki-or mw-list-item"><a href="https://or.wikipedia.org/wiki/%E0%AC%A8%E0%AD%81%E0%AC%A8%E0%AC%BE%E0%AC%A8_%E0%AC%B8%E0%AC%BF%E0%AC%A3%E0%AD%8D%E0%AC%A1%E0%AD%8D%E0%AC%B0%E0%AD%8B%E0%AC%AE" title="ନୁନାନ ସିଣ୍ଡ୍ରୋମ – Odia" lang="or" hreflang="or" data-title="ନୁନାନ ସିଣ୍ଡ୍ରୋମ" data-language-autonym="ଓଡ଼ିଆ" data-language-local-name="Odia" class="interlanguage-link-target"><span>ଓଡ଼ିଆ</span></a></li><li class="interlanguage-link interwiki-uz mw-list-item"><a href="https://uz.wikipedia.org/wiki/Nunan_sindromi" title="Nunan sindromi – Uzbek" lang="uz" hreflang="uz" data-title="Nunan sindromi" data-language-autonym="Oʻzbekcha / ўзбекча" data-language-local-name="Uzbek" class="interlanguage-link-target"><span>Oʻzbekcha / ўзбекча</span></a></li><li class="interlanguage-link interwiki-pl mw-list-item"><a href="https://pl.wikipedia.org/wiki/Zesp%C3%B3%C5%82_Noonan" title="Zespół Noonan – Polish" lang="pl" hreflang="pl" data-title="Zespół Noonan" data-language-autonym="Polski" data-language-local-name="Polish" class="interlanguage-link-target"><span>Polski</span></a></li><li class="interlanguage-link interwiki-pt mw-list-item"><a href="https://pt.wikipedia.org/wiki/S%C3%ADndrome_de_Noonan" title="Síndrome de Noonan – Portuguese" lang="pt" hreflang="pt" data-title="Síndrome de Noonan" data-language-autonym="Português" data-language-local-name="Portuguese" class="interlanguage-link-target"><span>Português</span></a></li><li class="interlanguage-link interwiki-ru mw-list-item"><a href="https://ru.wikipedia.org/wiki/%D0%A1%D0%B8%D0%BD%D0%B4%D1%80%D0%BE%D0%BC_%D0%9D%D1%83%D0%BD%D0%B0%D0%BD" title="Синдром Нунан – Russian" lang="ru" hreflang="ru" data-title="Синдром Нунан" data-language-autonym="Русский" data-language-local-name="Russian" class="interlanguage-link-target"><span>Русский</span></a></li><li class="interlanguage-link interwiki-sr mw-list-item"><a href="https://sr.wikipedia.org/wiki/%D0%9D%D1%83%D0%BD%D0%B0%D0%BD%D0%BE%D0%B2_%D1%81%D0%B8%D0%BD%D0%B4%D1%80%D0%BE%D0%BC" title="Нунанов синдром – Serbian" lang="sr" hreflang="sr" data-title="Нунанов синдром" data-language-autonym="Српски / srpski" data-language-local-name="Serbian" class="interlanguage-link-target"><span>Српски / srpski</span></a></li><li class="interlanguage-link interwiki-fi mw-list-item"><a href="https://fi.wikipedia.org/wiki/Noonanin_oireyhtym%C3%A4" title="Noonanin oireyhtymä – Finnish" lang="fi" hreflang="fi" data-title="Noonanin oireyhtymä" data-language-autonym="Suomi" data-language-local-name="Finnish" class="interlanguage-link-target"><span>Suomi</span></a></li><li class="interlanguage-link interwiki-sv mw-list-item"><a href="https://sv.wikipedia.org/wiki/Noonans_syndrom" title="Noonans syndrom – Swedish" lang="sv" hreflang="sv" data-title="Noonans syndrom" data-language-autonym="Svenska" data-language-local-name="Swedish" class="interlanguage-link-target"><span>Svenska</span></a></li><li class="interlanguage-link interwiki-th mw-list-item"><a href="https://th.wikipedia.org/wiki/%E0%B8%81%E0%B8%A5%E0%B8%B8%E0%B9%88%E0%B8%A1%E0%B8%AD%E0%B8%B2%E0%B8%81%E0%B8%B2%E0%B8%A3%E0%B8%99%E0%B8%B9%E0%B9%81%E0%B8%99%E0%B8%99" title="กลุ่มอาการนูแนน – Thai" lang="th" hreflang="th" data-title="กลุ่มอาการนูแนน" data-language-autonym="ไทย" data-language-local-name="Thai" class="interlanguage-link-target"><span>ไทย</span></a></li><li class="interlanguage-link interwiki-tr mw-list-item"><a href="https://tr.wikipedia.org/wiki/Noonan_sendromu" title="Noonan sendromu – Turkish" lang="tr" hreflang="tr" data-title="Noonan sendromu" data-language-autonym="Türkçe" data-language-local-name="Turkish" class="interlanguage-link-target"><span>Türkçe</span></a></li><li class="interlanguage-link interwiki-vi mw-list-item"><a href="https://vi.wikipedia.org/wiki/H%E1%BB%99i_ch%E1%BB%A9ng_Noonan" title="Hội chứng Noonan – Vietnamese" lang="vi" hreflang="vi" data-title="Hội chứng Noonan" data-language-autonym="Tiếng Việt" data-language-local-name="Vietnamese" class="interlanguage-link-target"><span>Tiếng Việt</span></a></li><li class="interlanguage-link interwiki-zh mw-list-item"><a href="https://zh.wikipedia.org/wiki/%E5%8A%AA%E5%8D%97%E6%B0%8F%E7%97%87%E5%80%99%E7%BE%A4" title="努南氏症候群 – Chinese" lang="zh" hreflang="zh" data-title="努南氏症候群" data-language-autonym="中文" data-language-local-name="Chinese" class="interlanguage-link-target"><span>中文</span></a></li> </ul> <div class="after-portlet after-portlet-lang"><span class="wb-langlinks-edit wb-langlinks-link"><a href="https://www.wikidata.org/wiki/Special:EntityPage/Q1543446#sitelinks-wikipedia" title="Edit interlanguage links" class="wbc-editpage">Edit links</a></span></div> </div> </div> </div> </header> <div class="vector-page-toolbar"> <div class="vector-page-toolbar-container"> <div id="left-navigation"> <nav aria-label="Namespaces"> <div id="p-associated-pages" class="vector-menu vector-menu-tabs mw-portlet mw-portlet-associated-pages" > <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="ca-nstab-main" class="selected vector-tab-noicon mw-list-item"><a href="/wiki/Noonan_syndrome" title="View the content page [c]" accesskey="c"><span>Article</span></a></li><li id="ca-talk" class="vector-tab-noicon mw-list-item"><a href="/wiki/Talk:Noonan_syndrome" rel="discussion" title="Discuss improvements to the content page [t]" accesskey="t"><span>Talk</span></a></li> </ul> </div> </div> <div id="vector-variants-dropdown" class="vector-dropdown emptyPortlet" > <input type="checkbox" id="vector-variants-dropdown-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-vector-variants-dropdown" class="vector-dropdown-checkbox " aria-label="Change language variant" > <label id="vector-variants-dropdown-label" for="vector-variants-dropdown-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet" aria-hidden="true" ><span class="vector-dropdown-label-text">English</span> </label> <div class="vector-dropdown-content"> <div id="p-variants" class="vector-menu mw-portlet mw-portlet-variants emptyPortlet" > <div class="vector-menu-content"> <ul class="vector-menu-content-list"> </ul> </div> </div> </div> </div> </nav> </div> <div id="right-navigation" class="vector-collapsible"> <nav aria-label="Views"> <div id="p-views" class="vector-menu vector-menu-tabs mw-portlet mw-portlet-views" > <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="ca-view" class="selected vector-tab-noicon mw-list-item"><a href="/wiki/Noonan_syndrome"><span>Read</span></a></li><li id="ca-edit" class="vector-tab-noicon mw-list-item"><a href="/w/index.php?title=Noonan_syndrome&action=edit" title="Edit this page [e]" accesskey="e"><span>Edit</span></a></li><li id="ca-history" class="vector-tab-noicon mw-list-item"><a href="/w/index.php?title=Noonan_syndrome&action=history" title="Past revisions of this page [h]" accesskey="h"><span>View history</span></a></li> </ul> </div> </div> </nav> <nav class="vector-page-tools-landmark" aria-label="Page tools"> <div id="vector-page-tools-dropdown" class="vector-dropdown vector-page-tools-dropdown" > <input type="checkbox" id="vector-page-tools-dropdown-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-vector-page-tools-dropdown" class="vector-dropdown-checkbox " aria-label="Tools" > <label id="vector-page-tools-dropdown-label" for="vector-page-tools-dropdown-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet" aria-hidden="true" ><span class="vector-dropdown-label-text">Tools</span> </label> <div class="vector-dropdown-content"> <div id="vector-page-tools-unpinned-container" class="vector-unpinned-container"> <div id="vector-page-tools" class="vector-page-tools vector-pinnable-element"> <div class="vector-pinnable-header vector-page-tools-pinnable-header vector-pinnable-header-unpinned" data-feature-name="page-tools-pinned" data-pinnable-element-id="vector-page-tools" data-pinned-container-id="vector-page-tools-pinned-container" data-unpinned-container-id="vector-page-tools-unpinned-container" > <div class="vector-pinnable-header-label">Tools</div> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-pin-button" data-event-name="pinnable-header.vector-page-tools.pin">move to sidebar</button> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-unpin-button" data-event-name="pinnable-header.vector-page-tools.unpin">hide</button> </div> <div id="p-cactions" class="vector-menu mw-portlet mw-portlet-cactions emptyPortlet vector-has-collapsible-items" title="More options" > <div class="vector-menu-heading"> Actions </div> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="ca-more-view" class="selected vector-more-collapsible-item mw-list-item"><a href="/wiki/Noonan_syndrome"><span>Read</span></a></li><li id="ca-more-edit" class="vector-more-collapsible-item mw-list-item"><a href="/w/index.php?title=Noonan_syndrome&action=edit" title="Edit this page [e]" accesskey="e"><span>Edit</span></a></li><li id="ca-more-history" class="vector-more-collapsible-item mw-list-item"><a href="/w/index.php?title=Noonan_syndrome&action=history"><span>View history</span></a></li> </ul> </div> </div> <div id="p-tb" class="vector-menu mw-portlet mw-portlet-tb" > <div class="vector-menu-heading"> General </div> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="t-whatlinkshere" class="mw-list-item"><a href="/wiki/Special:WhatLinksHere/Noonan_syndrome" title="List of all English Wikipedia pages containing links to this page [j]" accesskey="j"><span>What links here</span></a></li><li id="t-recentchangeslinked" class="mw-list-item"><a href="/wiki/Special:RecentChangesLinked/Noonan_syndrome" rel="nofollow" title="Recent changes in pages linked from this page [k]" accesskey="k"><span>Related changes</span></a></li><li id="t-upload" class="mw-list-item"><a href="/wiki/Wikipedia:File_Upload_Wizard" title="Upload files [u]" accesskey="u"><span>Upload file</span></a></li><li id="t-specialpages" class="mw-list-item"><a href="/wiki/Special:SpecialPages" title="A list of all special pages [q]" accesskey="q"><span>Special pages</span></a></li><li id="t-permalink" class="mw-list-item"><a href="/w/index.php?title=Noonan_syndrome&oldid=1245618416" title="Permanent link to this revision of this page"><span>Permanent link</span></a></li><li id="t-info" class="mw-list-item"><a href="/w/index.php?title=Noonan_syndrome&action=info" title="More information about this page"><span>Page information</span></a></li><li id="t-cite" class="mw-list-item"><a href="/w/index.php?title=Special:CiteThisPage&page=Noonan_syndrome&id=1245618416&wpFormIdentifier=titleform" title="Information on how to cite this page"><span>Cite this page</span></a></li><li id="t-urlshortener" class="mw-list-item"><a href="/w/index.php?title=Special:UrlShortener&url=https%3A%2F%2Fen.wikipedia.org%2Fwiki%2FNoonan_syndrome"><span>Get shortened URL</span></a></li><li id="t-urlshortener-qrcode" class="mw-list-item"><a href="/w/index.php?title=Special:QrCode&url=https%3A%2F%2Fen.wikipedia.org%2Fwiki%2FNoonan_syndrome"><span>Download QR code</span></a></li> </ul> </div> </div> <div id="p-coll-print_export" class="vector-menu mw-portlet mw-portlet-coll-print_export" > <div class="vector-menu-heading"> Print/export </div> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="coll-download-as-rl" class="mw-list-item"><a href="/w/index.php?title=Special:DownloadAsPdf&page=Noonan_syndrome&action=show-download-screen" title="Download this page as a PDF file"><span>Download as PDF</span></a></li><li id="t-print" class="mw-list-item"><a href="/w/index.php?title=Noonan_syndrome&printable=yes" title="Printable version of this page [p]" accesskey="p"><span>Printable version</span></a></li> </ul> </div> </div> <div id="p-wikibase-otherprojects" class="vector-menu mw-portlet mw-portlet-wikibase-otherprojects" > <div class="vector-menu-heading"> In other projects </div> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li class="wb-otherproject-link wb-otherproject-commons mw-list-item"><a href="https://commons.wikimedia.org/wiki/Category:Noonan_syndrome" hreflang="en"><span>Wikimedia Commons</span></a></li><li id="t-wikibase" class="wb-otherproject-link wb-otherproject-wikibase-dataitem mw-list-item"><a href="https://www.wikidata.org/wiki/Special:EntityPage/Q1543446" title="Structured data on this page hosted by Wikidata [g]" accesskey="g"><span>Wikidata item</span></a></li> </ul> </div> </div> </div> </div> </div> </div> </nav> </div> </div> </div> <div class="vector-column-end"> <div class="vector-sticky-pinned-container"> <nav class="vector-page-tools-landmark" aria-label="Page tools"> <div id="vector-page-tools-pinned-container" class="vector-pinned-container"> </div> </nav> <nav class="vector-appearance-landmark" aria-label="Appearance"> <div id="vector-appearance-pinned-container" class="vector-pinned-container"> <div id="vector-appearance" class="vector-appearance vector-pinnable-element"> <div class="vector-pinnable-header vector-appearance-pinnable-header vector-pinnable-header-pinned" data-feature-name="appearance-pinned" data-pinnable-element-id="vector-appearance" data-pinned-container-id="vector-appearance-pinned-container" data-unpinned-container-id="vector-appearance-unpinned-container" > <div class="vector-pinnable-header-label">Appearance</div> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-pin-button" data-event-name="pinnable-header.vector-appearance.pin">move to sidebar</button> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-unpin-button" data-event-name="pinnable-header.vector-appearance.unpin">hide</button> </div> </div> </div> </nav> </div> </div> <div id="bodyContent" class="vector-body" aria-labelledby="firstHeading" data-mw-ve-target-container> <div class="vector-body-before-content"> <div class="mw-indicators"> </div> <div id="siteSub" class="noprint">From Wikipedia, the free encyclopedia</div> </div> <div id="contentSub"><div id="mw-content-subtitle"></div></div> <div id="mw-content-text" class="mw-body-content"><div class="mw-content-ltr mw-parser-output" lang="en" dir="ltr"><div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Genetic condition involving facial, heart, blood and skeletal features</div> <style data-mw-deduplicate="TemplateStyles:r1251242444">.mw-parser-output .ambox{border:1px solid #a2a9b1;border-left:10px solid #36c;background-color:#fbfbfb;box-sizing:border-box}.mw-parser-output .ambox+link+.ambox,.mw-parser-output .ambox+link+style+.ambox,.mw-parser-output .ambox+link+link+.ambox,.mw-parser-output .ambox+.mw-empty-elt+link+.ambox,.mw-parser-output .ambox+.mw-empty-elt+link+style+.ambox,.mw-parser-output .ambox+.mw-empty-elt+link+link+.ambox{margin-top:-1px}html body.mediawiki .mw-parser-output .ambox.mbox-small-left{margin:4px 1em 4px 0;overflow:hidden;width:238px;border-collapse:collapse;font-size:88%;line-height:1.25em}.mw-parser-output .ambox-speedy{border-left:10px solid #b32424;background-color:#fee7e6}.mw-parser-output .ambox-delete{border-left:10px solid #b32424}.mw-parser-output .ambox-content{border-left:10px solid #f28500}.mw-parser-output .ambox-style{border-left:10px solid #fc3}.mw-parser-output .ambox-move{border-left:10px solid #9932cc}.mw-parser-output .ambox-protection{border-left:10px solid #a2a9b1}.mw-parser-output .ambox .mbox-text{border:none;padding:0.25em 0.5em;width:100%}.mw-parser-output .ambox .mbox-image{border:none;padding:2px 0 2px 0.5em;text-align:center}.mw-parser-output .ambox .mbox-imageright{border:none;padding:2px 0.5em 2px 0;text-align:center}.mw-parser-output .ambox .mbox-empty-cell{border:none;padding:0;width:1px}.mw-parser-output .ambox .mbox-image-div{width:52px}@media(min-width:720px){.mw-parser-output .ambox{margin:0 10%}}@media print{body.ns-0 .mw-parser-output .ambox{display:none!important}}</style><table class="box-More_citations_needed plainlinks metadata ambox ambox-content ambox-Refimprove" role="presentation"><tbody><tr><td class="mbox-image"><div class="mbox-image-div"><span typeof="mw:File"><a href="/wiki/File:Question_book-new.svg" class="mw-file-description"><img alt="" src="//upload.wikimedia.org/wikipedia/en/thumb/9/99/Question_book-new.svg/50px-Question_book-new.svg.png" decoding="async" width="50" height="39" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/en/thumb/9/99/Question_book-new.svg/75px-Question_book-new.svg.png 1.5x, //upload.wikimedia.org/wikipedia/en/thumb/9/99/Question_book-new.svg/100px-Question_book-new.svg.png 2x" data-file-width="512" data-file-height="399" /></a></span></div></td><td class="mbox-text"><div class="mbox-text-span">This article <b>needs additional citations for <a href="/wiki/Wikipedia:Verifiability" title="Wikipedia:Verifiability">verification</a></b>.<span class="hide-when-compact"> Please help <a href="/wiki/Special:EditPage/Noonan_syndrome" title="Special:EditPage/Noonan syndrome">improve this article</a> by <a href="/wiki/Help:Referencing_for_beginners" title="Help:Referencing for beginners">adding citations to reliable sources</a>. Unsourced material may be challenged and removed.<br /><small><span class="plainlinks"><i>Find sources:</i> <a rel="nofollow" class="external text" href="https://www.google.com/search?as_eq=wikipedia&q=%22Noonan+syndrome%22">"Noonan syndrome"</a> – <a rel="nofollow" class="external text" href="https://www.google.com/search?tbm=nws&q=%22Noonan+syndrome%22+-wikipedia&tbs=ar:1">news</a> <b>·</b> <a rel="nofollow" class="external text" href="https://www.google.com/search?&q=%22Noonan+syndrome%22&tbs=bkt:s&tbm=bks">newspapers</a> <b>·</b> <a rel="nofollow" class="external text" href="https://www.google.com/search?tbs=bks:1&q=%22Noonan+syndrome%22+-wikipedia">books</a> <b>·</b> <a rel="nofollow" class="external text" href="https://scholar.google.com/scholar?q=%22Noonan+syndrome%22">scholar</a> <b>·</b> <a rel="nofollow" class="external text" href="https://www.jstor.org/action/doBasicSearch?Query=%22Noonan+syndrome%22&acc=on&wc=on">JSTOR</a></span></small></span> <span class="date-container"><i>(<span class="date">August 2021</span>)</i></span><span class="hide-when-compact"><i> (<small><a href="/wiki/Help:Maintenance_template_removal" title="Help:Maintenance template removal">Learn how and when to remove this message</a></small>)</i></span></div></td></tr></tbody></table> <div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Medical condition</div><style data-mw-deduplicate="TemplateStyles:r1257001546">.mw-parser-output .infobox-subbox{padding:0;border:none;margin:-3px;width:auto;min-width:100%;font-size:100%;clear:none;float:none;background-color:transparent}.mw-parser-output .infobox-3cols-child{margin:auto}.mw-parser-output .infobox .navbar{font-size:100%}@media screen{html.skin-theme-clientpref-night .mw-parser-output .infobox-full-data:not(.notheme)>div:not(.notheme)[style]{background:#1f1f23!important;color:#f8f9fa}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .infobox-full-data:not(.notheme) div:not(.notheme){background:#1f1f23!important;color:#f8f9fa}}@media(min-width:640px){body.skin--responsive .mw-parser-output .infobox-table{display:table!important}body.skin--responsive .mw-parser-output .infobox-table>caption{display:table-caption!important}body.skin--responsive .mw-parser-output .infobox-table>tbody{display:table-row-group}body.skin--responsive .mw-parser-output .infobox-table tr{display:table-row!important}body.skin--responsive .mw-parser-output .infobox-table th,body.skin--responsive .mw-parser-output .infobox-table td{padding-left:inherit;padding-right:inherit}}</style><table class="infobox ib-medical-condition"><tbody><tr><th colspan="2" class="infobox-above" style="background:#ccc">Noonan syndrome</th></tr><tr><th scope="row" class="infobox-label">Other names</th><td class="infobox-data">Male Turner syndrome, Noonan–Ehmke syndrome, Turner-like syndrome, Ullrich–Noonan syndrome<sup id="cite_ref-GHR2018_1-0" class="reference"><a href="#cite_note-GHR2018-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup></td></tr><tr style="background-color: #f8f9fa;"><td colspan="2" class="infobox-full-data"><span class="mw-default-size" typeof="mw:File/Frameless"><a href="/wiki/File:Noonan_syndrome.PNG" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/6/69/Noonan_syndrome.PNG/220px-Noonan_syndrome.PNG" decoding="async" width="220" height="188" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/6/69/Noonan_syndrome.PNG/330px-Noonan_syndrome.PNG 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/6/69/Noonan_syndrome.PNG/440px-Noonan_syndrome.PNG 2x" data-file-width="753" data-file-height="645" /></a></span></td></tr><tr><td colspan="2" class="infobox-full-data">A 12-year-old girl with Noonan syndrome, displaying typical <a href="/wiki/Webbed_neck" title="Webbed neck">webbed neck</a> and double structural curve with rib deformity.</td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medical_specialty" title="Medical specialty">Specialty</a></th><td class="infobox-data"><a href="/wiki/Medical_genetics" title="Medical genetics">Medical genetics</a>, <a href="/wiki/Pediatrics" title="Pediatrics">pediatrics</a></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Signs_and_symptoms" title="Signs and symptoms">Symptoms</a></th><td class="infobox-data">Mildly unusual facial features, short height, <a href="/wiki/Congenital_heart_disease" class="mw-redirect" title="Congenital heart disease">congenital heart disease</a>, bleeding problems, skeletal malformations<sup id="cite_ref-GHR2018_1-1" class="reference"><a href="#cite_note-GHR2018-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Complication_(medicine)" title="Complication (medicine)">Complications</a></th><td class="infobox-data"><a href="/wiki/Leukemia" title="Leukemia">Leukemia</a><sup id="cite_ref-GHR2018_1-2" class="reference"><a href="#cite_note-GHR2018-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label">Usual onset</th><td class="infobox-data">Present at birth<sup id="cite_ref-NORD2016_2-0" class="reference"><a href="#cite_note-NORD2016-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label">Types</th><td class="infobox-data">Type 1 to 6<sup id="cite_ref-NIH2018_3-0" class="reference"><a href="#cite_note-NIH2018-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label">Causes</th><td class="infobox-data"><a href="/wiki/Mutation" title="Mutation">Genetic mutation</a> (<a href="/wiki/Autosomal_dominant" class="mw-redirect" title="Autosomal dominant">autosomal dominant</a>)<sup id="cite_ref-GHR2018_1-3" class="reference"><a href="#cite_note-GHR2018-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medical_diagnosis" title="Medical diagnosis">Diagnostic method</a></th><td class="infobox-data">Suspected based on symptoms, confirmed with <a href="/wiki/Genetic_testing" title="Genetic testing">genetic testing</a><sup id="cite_ref-AFP2014_4-0" class="reference"><a href="#cite_note-AFP2014-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-NORD2016_2-1" class="reference"><a href="#cite_note-NORD2016-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Differential_diagnosis" title="Differential diagnosis">Differential diagnosis</a></th><td class="infobox-data"><a href="/wiki/Cardiofaciocutaneous_syndrome" title="Cardiofaciocutaneous syndrome">Cardiofaciocutaneous syndrome</a>, <a href="/wiki/Turner_syndrome" title="Turner syndrome">Turner syndrome</a>, <a href="/wiki/Costello_syndrome" title="Costello syndrome">Costello syndrome</a>, <a href="/wiki/Neurofibromatosis_type_1" class="mw-redirect" title="Neurofibromatosis type 1">neurofibromatosis type 1</a><sup id="cite_ref-NORD2016_2-2" class="reference"><a href="#cite_note-NORD2016-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-NIH2018_3-1" class="reference"><a href="#cite_note-NIH2018-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label">Treatment</th><td class="infobox-data">Based on the symptoms<sup id="cite_ref-NIH2018_3-2" class="reference"><a href="#cite_note-NIH2018-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medication" title="Medication">Medication</a></th><td class="infobox-data"><a href="/wiki/Growth_hormone" title="Growth hormone">Growth hormone</a><sup id="cite_ref-NIH2018_3-3" class="reference"><a href="#cite_note-NIH2018-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Prognosis" title="Prognosis">Prognosis</a></th><td class="infobox-data">Depends on the severity of heart problems<sup id="cite_ref-NIH2018_3-4" class="reference"><a href="#cite_note-NIH2018-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label">Frequency</th><td class="infobox-data">1 in 1000 (1 in 2,000 severe disease)<sup id="cite_ref-AFP2014_4-1" class="reference"><a href="#cite_note-AFP2014-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Eponym" title="Eponym">Named after</a></th><td class="infobox-data"><a href="/wiki/Jacqueline_Noonan" title="Jacqueline Noonan">Jacqueline Noonan</a></td></tr></tbody></table> <p><b>Noonan syndrome</b> (<b>NS</b>) is a <a href="/wiki/Genetic_disorder" title="Genetic disorder">genetic disorder</a> that may present with mildly unusual facial features, short height, <a href="/wiki/Congenital_heart_disease" class="mw-redirect" title="Congenital heart disease">congenital heart disease</a>, <a href="/wiki/Bleeding_problems" class="mw-redirect" title="Bleeding problems">bleeding problems</a>, and skeletal malformations.<sup id="cite_ref-GHR2018_1-4" class="reference"><a href="#cite_note-GHR2018-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> Facial features include <a href="/wiki/Hypertelorism" title="Hypertelorism">widely spaced eyes</a>, light-colored eyes, <a href="/wiki/Low-set_ears" title="Low-set ears">low-set ears</a>, a short neck, and a <a href="/wiki/Micrognathism" title="Micrognathism">small lower jaw</a>.<sup id="cite_ref-GHR2018_1-5" class="reference"><a href="#cite_note-GHR2018-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> Heart problems may include <a href="/wiki/Pulmonary_valve_stenosis" title="Pulmonary valve stenosis">pulmonary valve stenosis</a>.<sup id="cite_ref-GHR2018_1-6" class="reference"><a href="#cite_note-GHR2018-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> The <a href="/wiki/Breast_bone" class="mw-redirect" title="Breast bone">breast bone</a> may either <a href="/wiki/Pectus_carinatum" title="Pectus carinatum">protrude</a> or be <a href="/wiki/Pectus_excavatum" title="Pectus excavatum">sunken</a>, while the <a href="/wiki/Scoliosis" title="Scoliosis">spine may be abnormally curved</a>.<sup id="cite_ref-GHR2018_1-7" class="reference"><a href="#cite_note-GHR2018-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> Intelligence is often normal.<sup id="cite_ref-GHR2018_1-8" class="reference"><a href="#cite_note-GHR2018-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> Complications of NS can include <a href="/wiki/Leukemia" title="Leukemia">leukemia</a>.<sup id="cite_ref-GHR2018_1-9" class="reference"><a href="#cite_note-GHR2018-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> </p><p>A number of <a href="/wiki/Mutation" title="Mutation">genetic mutations</a> can result in Noonan syndrome.<sup id="cite_ref-GHR2018_1-10" class="reference"><a href="#cite_note-GHR2018-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> The condition may be inherited as an <a href="/wiki/Autosomal_dominant" class="mw-redirect" title="Autosomal dominant">autosomal dominant</a> condition or occur as a new mutation.<sup id="cite_ref-NIH2018_3-5" class="reference"><a href="#cite_note-NIH2018-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-GHR2018_1-11" class="reference"><a href="#cite_note-GHR2018-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> Noonan syndrome is a type of <a href="/wiki/RASopathy" title="RASopathy">RASopathy</a>, the underlying mechanism for which involves attenuation of the <a href="/wiki/MAPK/ERK_pathway" title="MAPK/ERK pathway">RAS/MAPK</a> <a href="/wiki/Cell_signaling" title="Cell signaling">cell signaling</a> pathway.<sup id="cite_ref-GHR2018_1-12" class="reference"><a href="#cite_note-GHR2018-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> The diagnosis may be suspected based on symptoms, <a href="/wiki/Medical_imaging" title="Medical imaging">medical imaging</a>, and blood tests.<sup id="cite_ref-NORD2016_2-3" class="reference"><a href="#cite_note-NORD2016-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-AFP2014_4-2" class="reference"><a href="#cite_note-AFP2014-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> Confirmation may be achieved with <a href="/wiki/Genetic_testing" title="Genetic testing">genetic testing</a>.<sup id="cite_ref-NORD2016_2-4" class="reference"><a href="#cite_note-NORD2016-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p><p>No cure for NS is known.<sup id="cite_ref-Mer2018_5-0" class="reference"><a href="#cite_note-Mer2018-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> Treatment is based on the symptoms and underlying problems, and extra support in school may be required.<sup id="cite_ref-NIH2018_3-6" class="reference"><a href="#cite_note-NIH2018-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> <a href="/wiki/Growth_hormone_therapy" title="Growth hormone therapy">Growth hormone therapy</a> during childhood can increase an affected person's final height.<sup id="cite_ref-NIH2018_3-7" class="reference"><a href="#cite_note-NIH2018-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> Long-term outcomes typically depend on the severity of heart problems.<sup id="cite_ref-NIH2018_3-8" class="reference"><a href="#cite_note-NIH2018-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> </p><p>An estimated 1 in 1,000 people are mildly affected by NS, while about 1 in 2,000 have a more severe form of the condition.<sup id="cite_ref-AFP2014_4-3" class="reference"><a href="#cite_note-AFP2014-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> Males appear to be affected more often than females.<sup id="cite_ref-NORD2016_2-5" class="reference"><a href="#cite_note-NORD2016-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> The condition was named after American <a href="/wiki/Pediatrics" title="Pediatrics">pediatric</a> <a href="/wiki/Cardiology" title="Cardiology">cardiologist</a> <a href="/wiki/Jacqueline_Noonan" title="Jacqueline Noonan">Jacqueline Noonan</a>, who described her first case in 1963.<sup id="cite_ref-NORD2016_2-6" class="reference"><a href="#cite_note-NORD2016-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p> <style data-mw-deduplicate="TemplateStyles:r886046785">.mw-parser-output .toclimit-2 .toclevel-1 ul,.mw-parser-output .toclimit-3 .toclevel-2 ul,.mw-parser-output .toclimit-4 .toclevel-3 ul,.mw-parser-output .toclimit-5 .toclevel-4 ul,.mw-parser-output .toclimit-6 .toclevel-5 ul,.mw-parser-output .toclimit-7 .toclevel-6 ul{display:none}</style><div class="toclimit-3"><meta property="mw:PageProp/toc" /></div> <div class="mw-heading mw-heading2"><h2 id="Signs_and_symptoms">Signs and symptoms</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Noonan_syndrome&action=edit&section=1" title="Edit section: Signs and symptoms"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure class="mw-default-size" typeof="mw:File/Thumb"><a href="/wiki/File:InfantWithNoonan1.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/0/01/InfantWithNoonan1.jpg/220px-InfantWithNoonan1.jpg" decoding="async" width="220" height="294" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/0/01/InfantWithNoonan1.jpg/330px-InfantWithNoonan1.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/0/01/InfantWithNoonan1.jpg/440px-InfantWithNoonan1.jpg 2x" data-file-width="902" data-file-height="1205" /></a><figcaption>Abnormal features of Noonan syndrome at the age of 3 months: Note the eyebrow slant and left-side eyelid dropping.<sup id="cite_ref-Nos2013_6-0" class="reference"><a href="#cite_note-Nos2013-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup></figcaption></figure> <figure class="mw-default-size" typeof="mw:File/Thumb"><a href="/wiki/File:InfantWithNoonan2.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/7/7f/InfantWithNoonan2.jpg/220px-InfantWithNoonan2.jpg" decoding="async" width="220" height="285" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/7/7f/InfantWithNoonan2.jpg/330px-InfantWithNoonan2.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/7/7f/InfantWithNoonan2.jpg/440px-InfantWithNoonan2.jpg 2x" data-file-width="903" data-file-height="1170" /></a><figcaption>Abnormal features of Noonan syndrome at the age of 3 months: Note the low-set, posteriorly rotated, and abnormally formed ear.<sup id="cite_ref-Nos2013_6-1" class="reference"><a href="#cite_note-Nos2013-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup></figcaption></figure> <p>The most common signs leading to the diagnosis of Noonan syndrome are unique facial characteristics and musculoskeletal features. The facial characteristics are most prominent in infancy, becoming less apparent with age in many people with Noonan syndrome.<sup id="cite_ref-7" class="reference"><a href="#cite_note-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Head">Head</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Noonan_syndrome&action=edit&section=2" title="Edit section: Head"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Some of the characteristic features of Noonan syndrome include a <a href="/wiki/Large_head" class="mw-redirect" title="Large head">large head</a> with excess skin on the back of the neck, low hairline at the nape of the neck, high hairline at the front of the head, triangular face shape, broad forehead, and a short, webbed neck. </p><p>In the eyes, <a href="/wiki/Hypertelorism" title="Hypertelorism">hypertelorism</a> (widely set eyes) is a defining characteristic, present in 95% of people with Noonan syndrome. This may be accompanied by <a href="/wiki/Epicanthal_fold" class="mw-redirect" title="Epicanthal fold">epicanthal folds</a> (extra fold of skin at the inner corner of the eye), <a href="/wiki/Ptosis_(eyelid)" title="Ptosis (eyelid)">ptosis</a> (drooping of the eyelids), <a href="/wiki/Proptosis" class="mw-redirect" title="Proptosis">proptosis</a> (bulging eyes), <a href="/wiki/Strabismus" title="Strabismus">strabismus</a> (inward or outward turning of the eyes), <a href="/wiki/Pathologic_nystagmus" class="mw-redirect" title="Pathologic nystagmus">nystagmus</a> (jerking movement of the eyes) and refractive visual errors. </p><p>The nose may be small, wide, and upturned. </p><p>The development of the ears and auditory system may be affected in people with Noonan's syndrome. This can result in low-set ears (in over 90%), backward-rotated ears (over 90%), thick helix (outer rim) of ear (over 90%), incomplete folding of ears, chronic <a href="/wiki/Otitis_media" title="Otitis media">otitis media</a> (ear infections), and hearing loss. </p><p>Development of the mouth may also be affected in Noonan syndrome. This can result in deeply grooved philtrum (top lip line) (over 90%), <a href="/wiki/Micrognathia" class="mw-redirect" title="Micrognathia">micrognathia</a> (undersized lower jaw), high arched palate, articulation difficulties (teeth don't line up) which can lead to dental problems. Similar to the muscular manifestations above, in the mouth, poor tongue control may be observed. </p> <div class="mw-heading mw-heading3"><h3 id="Skin">Skin</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Noonan_syndrome&action=edit&section=3" title="Edit section: Skin"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Skin signs and symptoms in Noonan syndrome include <a href="/wiki/Lymphedema" title="Lymphedema">lymphedema</a> (lymph swelling of the extremities), <a href="/wiki/Keloid" title="Keloid">keloid</a> formation, excessive scar formation, <a href="/wiki/Hyperkeratosis" title="Hyperkeratosis">hyperkeratosis</a> (overdevelopment of outer skin layer), <a href="/wiki/Nevus" title="Nevus">pigmented nevi</a> (darkly pigmented skin spots), and <a href="/wiki/Connective_tissue_disease" title="Connective tissue disease">connective tissue disease</a>. </p> <div class="mw-heading mw-heading3"><h3 id="Musculoskeletal">Musculoskeletal</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Noonan_syndrome&action=edit&section=4" title="Edit section: Musculoskeletal"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Abnormalities in the limbs and extremities may occur in Noonan syndrome. This may manifest as bluntly ended fingers, extra padding on fingers and toes, <a href="/wiki/Edema" title="Edema">edema</a> of the back of hands and tops of feet, and <a href="/wiki/Cubitus_valgus" title="Cubitus valgus">cubitus valgus</a> (wide carrying angle of the elbows). </p><p>For short stature, growth hormone is sometimes combined with IGF-1 (or as an alternative, IGF-1 as a stand-alone) can be used to achieve an increased height/final height quicker. The final adult height of individuals with Noonan syndrome is about 161–167 cm in males and 150–155 cm in females, which approaches the lower limit of normal.<sup id="cite_ref-:11_8-0" class="reference"><a href="#cite_note-:11-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> </p><p>Spinal abnormalities may be present up to 30% of the time and this may require surgery to correct in over 60% of these cases. Other musculoskeletal manifestations in Noonan syndrome are associated with undifferentiated connective-tissue disorders which can be associated with joint contractures (tightness) or joint hypermobility (looseness). Additional factors may present in the form of winging of the scapula, scoliosis, breast bone prominence (pectus carinatum), breast bone depression (pectus excavatum). Muscle abnormalities may present as hypotonia (low muscle tone), which may lead to lordosis (increased hollow in the back) due to poor abdominal muscle tone. </p> <div class="mw-heading mw-heading3"><h3 id="Heart">Heart</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Noonan_syndrome&action=edit&section=5" title="Edit section: Heart"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Noonan syndrome is the second most common syndromic cause of congenital heart disease. 50-70% of individuals with NS are born with some form of congenital heart defect, with <a href="/wiki/Pulmonary_valvular_stenosis" class="mw-redirect" title="Pulmonary valvular stenosis">pulmonary valvular stenosis</a> being the most common (50–60%).<sup id="cite_ref-9" class="reference"><a href="#cite_note-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> Other heart defects include <a href="/wiki/Hypertrophic_cardiomyopathy" title="Hypertrophic cardiomyopathy">hypertrophic cardiomyopathy</a> (12–35%), <a href="/wiki/Ventricular_septal_defect" title="Ventricular septal defect">ventricular septal defects</a> (5–20%), and <a href="/wiki/Atrial_septal_defect" title="Atrial septal defect">atrial septal defects</a> (10–25%).<sup id="cite_ref-10" class="reference"><a href="#cite_note-10"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-11" class="reference"><a href="#cite_note-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-12" class="reference"><a href="#cite_note-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Lungs">Lungs</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Noonan_syndrome&action=edit&section=6" title="Edit section: Lungs"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Restrictive lung function has been reported in some people. </p> <div class="mw-heading mw-heading3"><h3 id="Gastrointestinal">Gastrointestinal</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Noonan_syndrome&action=edit&section=7" title="Edit section: Gastrointestinal"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>A number of diverse gastrointestinal (GI) symptoms have been associated with Noonan syndrome. These include <a href="/wiki/Swallowing_difficulties" class="mw-redirect" title="Swallowing difficulties">swallowing difficulties</a>, low gut motility, <a href="/wiki/Gastroparesis" title="Gastroparesis">gastroparesis</a> (delayed gastric emptying), <a href="/wiki/Intestinal_malrotation" title="Intestinal malrotation">intestinal malrotation</a>, and frequent or forceful <a href="/wiki/Vomiting" title="Vomiting">vomiting</a>. These digestive issues may lead to <a href="/wiki/Decreased_appetite" class="mw-redirect" title="Decreased appetite">decreased appetite</a>, <a href="/wiki/Failure_to_thrive" title="Failure to thrive">failure to thrive</a> from infancy to puberty (75%), and occasionally the need for a feeding tube. </p> <div class="mw-heading mw-heading3"><h3 id="Genitourinary_system">Genitourinary system</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Noonan_syndrome&action=edit&section=8" title="Edit section: Genitourinary system"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>In some males with Noonan syndrome, testicles do not descend (<a href="/wiki/Cryptorchidism" title="Cryptorchidism">cryptorchidism</a>). </p> <div class="mw-heading mw-heading3"><h3 id="Circulation">Circulation</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Noonan_syndrome&action=edit&section=9" title="Edit section: Circulation"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Lymphatic anomalies including Posterior cervical <a href="/wiki/Cystic_hygroma" title="Cystic hygroma">hygroma</a> (webbed neck) and <a href="/wiki/Lymphedema" title="Lymphedema">Lymphedema</a> may present in people with Noonan syndrome. </p><p>A number of bleeding disorders have been associated with Noonan syndrome, these include platelet dysfunction, <a href="/wiki/Blood_clotting" class="mw-redirect" title="Blood clotting">Blood clotting</a> disorders, partial deficiency of <a href="/wiki/Factor_VIII" title="Factor VIII">factor VIII</a>:C, partial deficiency of <a href="/wiki/Factor_XI" title="Factor XI">factor XI</a>:C, partial deficiency of <a href="/wiki/Factor_XII" title="Factor XII">factor XII</a>:C, and an imbalance of plasminogen activator inhibitor type-1 (PAI-1) and tissue plasminogen activator (t-PA) activity. It has been associated with <a href="/wiki/Von_Willebrand_disease" title="Von Willebrand disease">Von Willebrand disease</a>, <a href="/wiki/Thrombocytopenia" title="Thrombocytopenia">Amegakaryocytic thrombocytopenia</a> (low platelet count), prolonged activated <a href="/wiki/Partial_thromboplastin_time" title="Partial thromboplastin time">partial thromboplastin time</a>, combined <a href="/wiki/Coagulation_defects" class="mw-redirect" title="Coagulation defects">coagulation defects</a>. When present, these Noonan-syndrome accompanying disorders can be associated with a predisposition to bruise easily, or hemorrhage. </p> <div class="mw-heading mw-heading3"><h3 id="Neurological_and_cognitive_impairment">Neurological and cognitive impairment</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Noonan_syndrome&action=edit&section=10" title="Edit section: Neurological and cognitive impairment"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Individuals with NS exhibit a broad range of cognitive abilities, typically ranging from mild intellectual disability to completely normal intelligence. Most patients have normal IQ levels (70-120), while around 20% may have cognitive impairment (IQ<70).<sup id="cite_ref-13" class="reference"><a href="#cite_note-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-14" class="reference"><a href="#cite_note-14"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-15" class="reference"><a href="#cite_note-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> Occasionally, <a href="/wiki/Chiari_malformation" title="Chiari malformation">Chiari malformation</a> (type 1), may occur, which can lead to <a href="/wiki/Hydrocephalus" title="Hydrocephalus">hydrocephalus</a>.<sup id="cite_ref-16" class="reference"><a href="#cite_note-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> Seizures have also been reported.<sup id="cite_ref-17" class="reference"><a href="#cite_note-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Bleeding_disorders">Bleeding disorders</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Noonan_syndrome&action=edit&section=11" title="Edit section: Bleeding disorders"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Individuals may experience bleeding disorders of various types, often associated with thrombocytopenia, low levels of clotting factors, impaired platelet function, and more.<sup id="cite_ref-18" class="reference"><a href="#cite_note-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-19" class="reference"><a href="#cite_note-19"><span class="cite-bracket">[</span>19<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Causes">Causes</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Noonan_syndrome&action=edit&section=12" title="Edit section: Causes"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure class="mw-default-size mw-halign-right" typeof="mw:File/Thumb"><a href="/wiki/File:Autosomal_dominant_-_en.svg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/4/4e/Autosomal_dominant_-_en.svg/220px-Autosomal_dominant_-_en.svg.png" decoding="async" width="220" height="376" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/4/4e/Autosomal_dominant_-_en.svg/330px-Autosomal_dominant_-_en.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/4/4e/Autosomal_dominant_-_en.svg/440px-Autosomal_dominant_-_en.svg.png 2x" data-file-width="738" data-file-height="1260" /></a><figcaption>NS is typically inherited in an <a href="/wiki/Autosomal_dominant" class="mw-redirect" title="Autosomal dominant">autosomal dominant</a> pattern with variable expression.</figcaption></figure> <p>Recurrence in siblings and apparent transmission from parent to child has long suggested a genetic defect with <a href="/wiki/Autosomal_dominant" class="mw-redirect" title="Autosomal dominant">autosomal dominant</a> inheritance and variable expression. Mutations in the <a href="/wiki/Ras_subfamily" class="mw-redirect" title="Ras subfamily">Ras</a>/<a href="/wiki/MAP_kinase" class="mw-redirect" title="MAP kinase">mitogen activated protein kinase</a> signaling pathways are known to be responsible for about 70% of NS cases.<sup id="cite_ref-Razzaque2012_20-0" class="reference"><a href="#cite_note-Razzaque2012-20"><span class="cite-bracket">[</span>20<span class="cite-bracket">]</span></a></sup> </p><p>Individuals with NS have up to a 50% chance of transmitting it to their offspring. However, while 30-75% of cases show a noticeable inheritance from one of the parents, the rest are caused by <a href="/wiki/De_novo_gene_birth" title="De novo gene birth">de-novo</a> genetic mutations occurring for the first time in the affected individual. In such cases, the risk of recurrence is less than 1%, but it still represents a higher risk than in the general population.<sup id="cite_ref-21" class="reference"><a href="#cite_note-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-22" class="reference"><a href="#cite_note-22"><span class="cite-bracket">[</span>22<span class="cite-bracket">]</span></a></sup> </p><p>The fact that an affected parent is not always identified for children with NS suggests several possibilities: </p> <ol><li>Manifestations could be so subtle as to go unrecognized (<a href="/wiki/Expressivity_(genetics)" title="Expressivity (genetics)">variable expressivity</a>)</li> <li>NS is <a href="/wiki/Heterogeneous" class="mw-redirect" title="Heterogeneous">heterogeneous</a>, comprising more than one similar condition of differing causes, and some of these may not be inherited.</li> <li>A high proportion of cases may represent new, sporadic <a href="/wiki/Mutation" title="Mutation">mutations</a>.</li></ol> <div class="mw-heading mw-heading3"><h3 id="Correlations_between_phenotype_and_genotype">Correlations between phenotype and genotype</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Noonan_syndrome&action=edit&section=13" title="Edit section: Correlations between phenotype and genotype"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Several genes are involved in the genetic etiology of NS, with the key ones being PTPN11 accounting for 50% of genetically diagnosed cases, SOS1 responsible for 10-13% of cases, and RAF1 or RIT1 - each contributing to an additional 5% of cases. Correlations between phenotype and genotype exist, and identifying the genetic cause can shed light on expected symptoms. For example, mutations in the PTPN11 gene are associated with an increased tendency for pulmonary stenosis or leukemia, while mutations in the SOS1 gene are linked to relatively normal development and stature compared to other NS cases. About 15-20% of NS cases remain genetically undiagnosed.<sup id="cite_ref-23" class="reference"><a href="#cite_note-23"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-24" class="reference"><a href="#cite_note-24"><span class="cite-bracket">[</span>24<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-25" class="reference"><a href="#cite_note-25"><span class="cite-bracket">[</span>25<span class="cite-bracket">]</span></a></sup> </p> <table class="wikitable"> <tbody><tr> <th>Type </th> <th><a href="/wiki/OMIM" class="mw-redirect" title="OMIM">Online Mendelian Inheritance in Man database</a> </th> <th>Gene </th> <th>Year found </th> <th>Locus </th> <th>% of cases </th> <th>Description </th> <th>Refs. </th></tr> <tr> <td>NS1 </td> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/163950">163950</a> </td> <td><i><a href="/wiki/PTPN11" title="PTPN11">PTPN11</a></i> </td> <td>2001 </td> <td>12q24.1 </td> <td>50% </td> <td>The <i><a href="/wiki/PTPN11" title="PTPN11">PTPN11</a></i> gene encodes the <a href="/wiki/Protein_tyrosine_phosphatase" title="Protein tyrosine phosphatase">protein tyrosine phosphatase</a> SHP-2. This protein is a component of several intracellular <a href="/wiki/Signal_transduction" title="Signal transduction">signal transduction</a> pathways involved in embryonic development that modulate cell division, differentiation, and migration, including one mediated by the <a href="/wiki/Epidermal_growth_factor" title="Epidermal growth factor">epidermal growth factor</a> <a href="/wiki/Receptor_(biochemistry)" title="Receptor (biochemistry)">receptor</a>, which is important in the formation of the semilunar <a href="/wiki/Heart_valve" title="Heart valve">heart valves</a>.<br /> Duplication of the chromosome region containing <i><a href="/wiki/PTPN11" title="PTPN11">PTPN11</a></i> can also result in NS. </td> <td><sup id="cite_ref-26" class="reference"><a href="#cite_note-26"><span class="cite-bracket">[</span>26<span class="cite-bracket">]</span></a></sup><br /><sup id="cite_ref-27" class="reference"><a href="#cite_note-27"><span class="cite-bracket">[</span>27<span class="cite-bracket">]</span></a></sup> </td></tr> <tr> <td>NS2 </td> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/605275">605275</a> </td> <td> </td> <td> </td> <td> </td> <td> </td> <td>Unknown; autosomal recessive </td> <td><sup id="cite_ref-28" class="reference"><a href="#cite_note-28"><span class="cite-bracket">[</span>28<span class="cite-bracket">]</span></a></sup> </td></tr> <tr> <td>NS3 </td> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/609942">609942</a> </td> <td><i><a href="/wiki/KRAS" title="KRAS">KRAS</a></i> </td> <td>2006 </td> <td>12p12.1 </td> <td><5% </td> <td> </td> <td><sup id="cite_ref-29" class="reference"><a href="#cite_note-29"><span class="cite-bracket">[</span>29<span class="cite-bracket">]</span></a></sup> </td></tr> <tr> <td>NS4 </td> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/610733">610733</a> </td> <td><i><a href="/wiki/SOS1" title="SOS1">SOS1</a></i> </td> <td>2006 </td> <td>2p22 </td> <td>10% </td> <td>Activating mutations in <i><a href="/wiki/SOS1" title="SOS1">SOS1</a></i> can give rise to NS. <i>SHP-2</i> and <i>SOS1</i> positively regulate the <a href="/wiki/Ras_subfamily" class="mw-redirect" title="Ras subfamily">Ras</a>/<a href="/wiki/MAP_kinase" class="mw-redirect" title="MAP kinase">MAP kinase</a> pathway, suggesting that its <a href="/wiki/Dysregulation" class="mw-redirect" title="Dysregulation">dysregulation</a> mediates NS development.<sup id="cite_ref-30" class="reference"><a href="#cite_note-30"><span class="cite-bracket">[</span>30<span class="cite-bracket">]</span></a></sup> </td> <td><sup id="cite_ref-31" class="reference"><a href="#cite_note-31"><span class="cite-bracket">[</span>31<span class="cite-bracket">]</span></a></sup> </td></tr> <tr> <td>NS5 </td> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/611553">611553</a> </td> <td><i><a href="/wiki/RAF1" class="mw-redirect" title="RAF1">RAF1</a></i> </td> <td>2007 </td> <td>3p25 </td> <td>3–17% </td> <td> </td> <td><sup id="cite_ref-32" class="reference"><a href="#cite_note-32"><span class="cite-bracket">[</span>32<span class="cite-bracket">]</span></a></sup> </td></tr></tbody></table> <p>Heterozygous mutations in <i><a href="/wiki/NRAS_(gene)" class="mw-redirect" title="NRAS (gene)">NRAS</a></i>, <i><a href="/wiki/HRAS" title="HRAS">HRAS</a></i>, <i><a href="/wiki/BRAF_(gene)" title="BRAF (gene)">BRAF</a></i>, <i><a href="/wiki/SHOC2" title="SHOC2">SHOC2</a></i>, <i><a href="/wiki/MAP2K1" title="MAP2K1">MAP2K1</a></i>, <i><a href="/wiki/MAP2K2" title="MAP2K2">MAP2K2</a></i>, and <i><a href="/wiki/CBL_(gene)" title="CBL (gene)">CBL</a></i> have also been associated with a smaller percentage of NS and related phenotypes.<sup id="cite_ref-33" class="reference"><a href="#cite_note-33"><span class="cite-bracket">[</span>33<span class="cite-bracket">]</span></a></sup> </p><p>A condition known as "<a href="/wiki/Neurofibromatosis%E2%80%93Noonan_syndrome" class="mw-redirect" title="Neurofibromatosis–Noonan syndrome">neurofibromatosis–Noonan syndrome</a>" is associated with <a href="/wiki/Neurofibromin_2" class="mw-redirect" title="Neurofibromin 2">neurofibromin</a>.<sup id="cite_ref-34" class="reference"><a href="#cite_note-34"><span class="cite-bracket">[</span>34<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Diagnosis">Diagnosis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Noonan_syndrome&action=edit&section=14" title="Edit section: Diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Diagnosing of NS is based on the clinical symptoms presented by the individual, accompanied by attempts to confirm the diagnosis through molecular genetic tests to identify the specific genetic change leading to the condition. However, despite identification of 14 causative genes, the absence of a known mutation will not exclude the diagnosis, as more, as-yet-undiscovered genes can cause NS. Thus, the diagnosis of NS is still based on clinical features. In other words, it is made when a physician feels that a person has enough of the features to warrant the label. The principal values of making a genetic diagnosis are that it guides additional medical and developmental evaluations, it excludes other possible explanations for the features, and it allows more accurate recurrence risk estimates. With more genotype-phenotype correlation studies being performed, a positive genetic diagnosis will help the clinician to be aware of possible anomalies specific to that certain gene mutation. For example, an increase in hypertrophic cardiomyopathy is seen in people with a mutation of <i>KRAS</i> and an increased risk of juvenile myelomonocytic leukemia exists for a mutation of <i>PTPN11</i>. In the future, studies may lead to a targeted management of NS symptoms that depends on what genetic mutation a person has. </p> <div class="mw-heading mw-heading3"><h3 id="Before_birth">Before birth</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Noonan_syndrome&action=edit&section=15" title="Edit section: Before birth"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Prenatal features that might lead physicians to consider a diagnosis of Noonan syndrome include cystic hygroma, increased nuchal translucency, pleural effusion, and edema.<sup id="cite_ref-:1_35-0" class="reference"><a href="#cite_note-:1-35"><span class="cite-bracket">[</span>35<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Differential_diagnosis">Differential diagnosis</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Noonan_syndrome&action=edit&section=16" title="Edit section: Differential diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>While <a href="/wiki/Turner_syndrome" title="Turner syndrome">Turner syndrome</a> has similarities with renal anomalies and developmental delay, Turner syndrome is only found in females and often expresses differently. In Turner syndrome, there is a lower incidence of developmental delays, left-sided heart defects are constant and the occurrence of renal abnormalities is much lower.<sup id="cite_ref-:0_36-0" class="reference"><a href="#cite_note-:0-36"><span class="cite-bracket">[</span>36<span class="cite-bracket">]</span></a></sup> </p><p>Other RASopathies </p> <ul><li><a href="/wiki/Watson_syndrome" title="Watson syndrome">Watson syndrome</a> - Watson Syndrome has a number of similar characteristics with Noonan's Syndrome such as short stature, pulmonary valve stenosis, variable intellectual development, and skin pigment changes.<sup id="cite_ref-:0_36-1" class="reference"><a href="#cite_note-:0-36"><span class="cite-bracket">[</span>36<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-37" class="reference"><a href="#cite_note-37"><span class="cite-bracket">[</span>37<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/Cardiofaciocutaneous_syndrome" title="Cardiofaciocutaneous syndrome">Cardiofaciocutaneous</a> (CFC) syndrome - CFC syndrome is very similar to Noonan's Syndrome due to similar cardiac and lymphatic features. However, In CFC syndrome intellectual disability and gastrointestinal problems are often more severe and pronounced.<sup id="cite_ref-:0_36-2" class="reference"><a href="#cite_note-:0-36"><span class="cite-bracket">[</span>36<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-38" class="reference"><a href="#cite_note-38"><span class="cite-bracket">[</span>38<span class="cite-bracket">]</span></a></sup>  </li> <li><a href="/wiki/Costello_syndrome" title="Costello syndrome">Costello syndrome</a> - Like CFC syndrome, Costello syndrome has overlapping features with Noonan's Syndrome. However, the conditions can be distinguished by their genetic cause.<sup id="cite_ref-39" class="reference"><a href="#cite_note-39"><span class="cite-bracket">[</span>39<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-40" class="reference"><a href="#cite_note-40"><span class="cite-bracket">[</span>40<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/Neurofibromatosis_type_I" title="Neurofibromatosis type I">Neurofibromatosis 1</a> (NF1) <sup id="cite_ref-:0_36-3" class="reference"><a href="#cite_note-:0-36"><span class="cite-bracket">[</span>36<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-41" class="reference"><a href="#cite_note-41"><span class="cite-bracket">[</span>41<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/Williams_syndrome" title="Williams syndrome">Williams syndrome</a><sup id="cite_ref-:0_36-4" class="reference"><a href="#cite_note-:0-36"><span class="cite-bracket">[</span>36<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-42" class="reference"><a href="#cite_note-42"><span class="cite-bracket">[</span>42<span class="cite-bracket">]</span></a></sup></li></ul> <div class="mw-heading mw-heading2"><h2 id="Management">Management</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Noonan_syndrome&action=edit&section=17" title="Edit section: Management"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>There is no single treatment tailored to alleviate all possible symptoms of NS. Instead, the treatment varies depending on complications but tend to be quite standard, reflecting the treatment of the general population.<sup id="cite_ref-:0_36-5" class="reference"><a href="#cite_note-:0-36"><span class="cite-bracket">[</span>36<span class="cite-bracket">]</span></a></sup> Management guidelines, divided by systems, including general, developmental, dental, growth and feeding, cardiovascular, audiological, haematological, renal and skeletal, that account for actions to be taken at diagnosis, after diagnosis and if symptomatic, have been published by an American consortium.<sup id="cite_ref-:1_35-1" class="reference"><a href="#cite_note-:1-35"><span class="cite-bracket">[</span>35<span class="cite-bracket">]</span></a></sup> </p><p>Specifically, treatment of cardiovascular complications resemble that of the general population and treatment of bleeding diathesis is guided by the specific factor deficiency or platelet aggregation.<sup id="cite_ref-:0_36-6" class="reference"><a href="#cite_note-:0-36"><span class="cite-bracket">[</span>36<span class="cite-bracket">]</span></a></sup> </p> <ul><li>Neuropsychological testing is recommended to find strengths and challenges to tailor support needed for school and career.</li> <li>Educational customization such as an <a href="/wiki/Individualized_education_program" class="mw-redirect" title="Individualized education program">individualized education program</a> plan is sometimes needed for school-aged children.</li> <li>Speech therapy if speech and articulation issues present</li> <li>Physical therapy and occupational therapy for gross- and fine-motor delays</li> <li>Hypotonia and motor difficulties often impact handwriting. Accommodations for lessening handwriting demands will improve performance and save long-term hand function.</li> <li>Periodic follow up and lifelong monitoring of abnormalities found in any system, especially the cardiovascular system, is recommended.<sup id="cite_ref-43" class="reference"><a href="#cite_note-43"><span class="cite-bracket">[</span>43<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:11_8-1" class="reference"><a href="#cite_note-:11-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup></li></ul> <div class="mw-heading mw-heading3"><h3 id="Anesthesia_risk">Anesthesia risk</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Noonan_syndrome&action=edit&section=18" title="Edit section: Anesthesia risk"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Although a few people with Noonan syndrome have been reported to develop <a href="/wiki/Malignant_hyperthermia" title="Malignant hyperthermia">malignant hyperthermia</a>, the gene mutation of diseases known to be associated with malignant hyperthermia is different from that of Noonan syndrome.<sup id="cite_ref-44" class="reference"><a href="#cite_note-44"><span class="cite-bracket">[</span>44<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Prognosis">Prognosis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Noonan_syndrome&action=edit&section=19" title="Edit section: Prognosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The lifespan of people with Noonan's syndrome can be similar to the general population, however, Noonan syndrome can be associated with several health conditions that can contribute to mortality. The greatest contributor to mortality in individuals with Noonan syndrome is complications of cardiovascular disease.<sup id="cite_ref-:12_45-0" class="reference"><a href="#cite_note-:12-45"><span class="cite-bracket">[</span>45<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:11_8-2" class="reference"><a href="#cite_note-:11-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> Prognosis is therefore largely dependent on the presence or absence of cardiac disease, as well as the type and severity of the disease (if disease is present).<sup id="cite_ref-:11_8-3" class="reference"><a href="#cite_note-:11-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> Most notably, Noonan syndrome with hypertrophic cardiomyopathy is associated with increased mortality.<sup id="cite_ref-:12_45-1" class="reference"><a href="#cite_note-:12-45"><span class="cite-bracket">[</span>45<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:11_8-4" class="reference"><a href="#cite_note-:11-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="History">History</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Noonan_syndrome&action=edit&section=20" title="Edit section: History"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure class="mw-default-size" typeof="mw:File/Thumb"><a href="/wiki/File:Noonan1883.JPG" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/9/95/Noonan1883.JPG/290px-Noonan1883.JPG" decoding="async" width="290" height="207" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/9/95/Noonan1883.JPG/435px-Noonan1883.JPG 1.5x, //upload.wikimedia.org/wikipedia/commons/9/95/Noonan1883.JPG 2x" data-file-width="565" data-file-height="403" /></a><figcaption>The oldest known case of NS, described in 1883 by Kobylinski</figcaption></figure> <p><a href="/wiki/Jacqueline_Noonan" title="Jacqueline Noonan">Jacqueline Noonan</a> began practicing as a pediatric cardiologist in 1959 at the <a href="/wiki/University_of_Iowa" title="University of Iowa">University of Iowa</a> when she noticed that children with a rare type of heart defect, <a href="/wiki/Pulmonary_stenosis" class="mw-redirect" title="Pulmonary stenosis">valvular pulmonary stenosis</a>, often had a characteristic physical appearance, with <a href="/wiki/Short_stature" title="Short stature">short stature</a>, <a href="/wiki/Webbed_neck" title="Webbed neck">webbed neck</a>, <a href="/wiki/Wide_spaced_eyes" class="mw-redirect" title="Wide spaced eyes">wide spaced eyes</a>, and <a href="/wiki/Low-set_ears" title="Low-set ears">low-set ears</a>. Both boys and girls were affected. These characteristics were sometimes seen running in families but were not associated with gross <a href="/wiki/Karyotype" title="Karyotype">chromosomal</a> abnormalities. In 1961 she joined <a href="/wiki/University_of_Kentucky" title="University of Kentucky">University of Kentucky</a>’s College of Medicine, where she continued studying the congenital heart disease and other congenital abnormalities. After examining 833 children with the syndrome, in 1963 presented a paper: "Associated non-cardiac malformations in children with congenital heart disease".<sup id="cite_ref-46" class="reference"><a href="#cite_note-46"><span class="cite-bracket">[</span>46<span class="cite-bracket">]</span></a></sup> This described nine children who in addition to congenital heart disease had characteristic facial features, chest deformities and short stature. </p><p>Dr. John Opitz, a former student of Noonan's, first began to call the condition "Noonan syndrome" when he saw children who looked like those whom Dr. Noonan had described. Noonan produced a paper titled "Hypertelorism with Turner Phenotype" in 1968 where she studied 19 patients who displayed symptoms indicative of Noonan's Syndrome.<sup id="cite_ref-47" class="reference"><a href="#cite_note-47"><span class="cite-bracket">[</span>47<span class="cite-bracket">]</span></a></sup> In 1971, at the Symposium of Cardiovascular defects, the name "Noonan syndrome" became officially recognized. </p> <div class="mw-heading mw-heading2"><h2 id="See_also">See also</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Noonan_syndrome&action=edit&section=21" title="Edit section: See also"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a href="/wiki/List_of_syndromes" title="List of syndromes">List of syndromes</a></li> <li><a href="/wiki/Characteristics_of_syndromic_ASD_conditions" class="mw-redirect" title="Characteristics of syndromic ASD conditions">Characteristics of syndromic ASD conditions</a></li></ul> <div class="mw-heading mw-heading2"><h2 id="References">References</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Noonan_syndrome&action=edit&section=22" title="Edit section: References"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239543626">.mw-parser-output .reflist{margin-bottom:0.5em;list-style-type:decimal}@media screen{.mw-parser-output .reflist{font-size:90%}}.mw-parser-output .reflist .references{font-size:100%;margin-bottom:0;list-style-type:inherit}.mw-parser-output .reflist-columns-2{column-width:30em}.mw-parser-output .reflist-columns-3{column-width:25em}.mw-parser-output .reflist-columns{margin-top:0.3em}.mw-parser-output .reflist-columns ol{margin-top:0}.mw-parser-output .reflist-columns li{page-break-inside:avoid;break-inside:avoid-column}.mw-parser-output .reflist-upper-alpha{list-style-type:upper-alpha}.mw-parser-output .reflist-upper-roman{list-style-type:upper-roman}.mw-parser-output .reflist-lower-alpha{list-style-type:lower-alpha}.mw-parser-output .reflist-lower-greek{list-style-type:lower-greek}.mw-parser-output .reflist-lower-roman{list-style-type:lower-roman}</style><div class="reflist"> <div class="mw-references-wrap mw-references-columns"><ol class="references"> <li id="cite_note-GHR2018-1"><span class="mw-cite-backlink">^ <a href="#cite_ref-GHR2018_1-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-GHR2018_1-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-GHR2018_1-2"><sup><i><b>c</b></i></sup></a> <a href="#cite_ref-GHR2018_1-3"><sup><i><b>d</b></i></sup></a> <a href="#cite_ref-GHR2018_1-4"><sup><i><b>e</b></i></sup></a> <a href="#cite_ref-GHR2018_1-5"><sup><i><b>f</b></i></sup></a> <a href="#cite_ref-GHR2018_1-6"><sup><i><b>g</b></i></sup></a> <a href="#cite_ref-GHR2018_1-7"><sup><i><b>h</b></i></sup></a> <a href="#cite_ref-GHR2018_1-8"><sup><i><b>i</b></i></sup></a> <a href="#cite_ref-GHR2018_1-9"><sup><i><b>j</b></i></sup></a> <a href="#cite_ref-GHR2018_1-10"><sup><i><b>k</b></i></sup></a> <a href="#cite_ref-GHR2018_1-11"><sup><i><b>l</b></i></sup></a> <a href="#cite_ref-GHR2018_1-12"><sup><i><b>m</b></i></sup></a></span> <span class="reference-text"><style data-mw-deduplicate="TemplateStyles:r1238218222">.mw-parser-output cite.citation{font-style:inherit;word-wrap:break-word}.mw-parser-output .citation q{quotes:"\"""\"""'""'"}.mw-parser-output .citation:target{background-color:rgba(0,127,255,0.133)}.mw-parser-output .id-lock-free.id-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/6/65/Lock-green.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-limited.id-lock-limited a,.mw-parser-output .id-lock-registration.id-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/d/d6/Lock-gray-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-subscription.id-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/a/aa/Lock-red-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .cs1-ws-icon a{background:url("//upload.wikimedia.org/wikipedia/commons/4/4c/Wikisource-logo.svg")right 0.1em center/12px no-repeat}body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-free a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-limited a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-registration a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-subscription a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .cs1-ws-icon a{background-size:contain;padding:0 1em 0 0}.mw-parser-output .cs1-code{color:inherit;background:inherit;border:none;padding:inherit}.mw-parser-output .cs1-hidden-error{display:none;color:var(--color-error,#d33)}.mw-parser-output .cs1-visible-error{color:var(--color-error,#d33)}.mw-parser-output .cs1-maint{display:none;color:#085;margin-left:0.3em}.mw-parser-output .cs1-kern-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right{padding-right:0.2em}.mw-parser-output .citation .mw-selflink{font-weight:inherit}@media screen{.mw-parser-output .cs1-format{font-size:95%}html.skin-theme-clientpref-night .mw-parser-output .cs1-maint{color:#18911f}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .cs1-maint{color:#18911f}}</style><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://ghr.nlm.nih.gov/condition/noonan-syndrome">"Noonan syndrome"</a>. <i>Genetics Home Reference</i><span class="reference-accessdate">. Retrieved <span class="nowrap">24 December</span> 2018</span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=Genetics+Home+Reference&rft.atitle=Noonan+syndrome&rft_id=https%3A%2F%2Fghr.nlm.nih.gov%2Fcondition%2Fnoonan-syndrome&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-NORD2016-2"><span class="mw-cite-backlink">^ <a href="#cite_ref-NORD2016_2-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-NORD2016_2-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-NORD2016_2-2"><sup><i><b>c</b></i></sup></a> <a href="#cite_ref-NORD2016_2-3"><sup><i><b>d</b></i></sup></a> <a href="#cite_ref-NORD2016_2-4"><sup><i><b>e</b></i></sup></a> <a href="#cite_ref-NORD2016_2-5"><sup><i><b>f</b></i></sup></a> <a href="#cite_ref-NORD2016_2-6"><sup><i><b>g</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://rarediseases.org/rare-diseases/noonan-syndrome/">"Noonan Syndrome"</a>. <i>NORD (National Organization for Rare Disorders)</i>. 2016<span class="reference-accessdate">. Retrieved <span class="nowrap">24 December</span> 2018</span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=NORD+%28National+Organization+for+Rare+Disorders%29&rft.atitle=Noonan+Syndrome&rft.date=2016&rft_id=https%3A%2F%2Frarediseases.org%2Frare-diseases%2Fnoonan-syndrome%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-NIH2018-3"><span class="mw-cite-backlink">^ <a href="#cite_ref-NIH2018_3-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-NIH2018_3-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-NIH2018_3-2"><sup><i><b>c</b></i></sup></a> <a href="#cite_ref-NIH2018_3-3"><sup><i><b>d</b></i></sup></a> <a href="#cite_ref-NIH2018_3-4"><sup><i><b>e</b></i></sup></a> <a href="#cite_ref-NIH2018_3-5"><sup><i><b>f</b></i></sup></a> <a href="#cite_ref-NIH2018_3-6"><sup><i><b>g</b></i></sup></a> <a href="#cite_ref-NIH2018_3-7"><sup><i><b>h</b></i></sup></a> <a href="#cite_ref-NIH2018_3-8"><sup><i><b>i</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://rarediseases.info.nih.gov/diseases/10955/noonan-syndrome">"Noonan syndrome"</a>. <i>Genetic and Rare Diseases Information Center (GARD) – an NCATS Program</i><span class="reference-accessdate">. Retrieved <span class="nowrap">25 December</span> 2018</span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=Genetic+and+Rare+Diseases+Information+Center+%28GARD%29+%E2%80%93+an+NCATS+Program&rft.atitle=Noonan+syndrome&rft_id=https%3A%2F%2Frarediseases.info.nih.gov%2Fdiseases%2F10955%2Fnoonan-syndrome&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-AFP2014-4"><span class="mw-cite-backlink">^ <a href="#cite_ref-AFP2014_4-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-AFP2014_4-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-AFP2014_4-2"><sup><i><b>c</b></i></sup></a> <a href="#cite_ref-AFP2014_4-3"><sup><i><b>d</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFBhambhaniMuenke2014" class="citation journal cs1">Bhambhani V, Muenke M (January 2014). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099190">"Noonan syndrome"</a>. <i>American Family Physician</i>. <b>89</b> (1): 37–43. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099190">4099190</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/24444506">24444506</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=American+Family+Physician&rft.atitle=Noonan+syndrome&rft.volume=89&rft.issue=1&rft.pages=37-43&rft.date=2014-01&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC4099190%23id-name%3DPMC&rft_id=info%3Apmid%2F24444506&rft.aulast=Bhambhani&rft.aufirst=V&rft.au=Muenke%2C+M&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC4099190&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Mer2018-5"><span class="mw-cite-backlink"><b><a href="#cite_ref-Mer2018_5-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://www.merckmanuals.com/home/children-s-health-issues/chromosome-and-gene-abnormalities/noonan-syndrome">"Noonan Syndrome - Children's Health Issues"</a>. <i>Merck Manuals Consumer Version</i><span class="reference-accessdate">. Retrieved <span class="nowrap">25 December</span> 2018</span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=Merck+Manuals+Consumer+Version&rft.atitle=Noonan+Syndrome+-+Children%27s+Health+Issues&rft_id=https%3A%2F%2Fwww.merckmanuals.com%2Fhome%2Fchildren-s-health-issues%2Fchromosome-and-gene-abnormalities%2Fnoonan-syndrome&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Nos2013-6"><span class="mw-cite-backlink">^ <a href="#cite_ref-Nos2013_6-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Nos2013_6-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFNosanBertokVeselYntema2013" class="citation journal cs1">Nosan G, Bertok S, Vesel S, Yntema HG, Paro-Panjan D (December 2013). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893993">"A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study"</a>. <i>Croatian Medical Journal</i>. <b>54</b> (6): 574–8. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.3325%2Fcmj.2013.54.574">10.3325/cmj.2013.54.574</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893993">3893993</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/24382853">24382853</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Croatian+Medical+Journal&rft.atitle=A+lethal+course+of+hypertrophic+cardiomyopathy+in+Noonan+syndrome+due+to+a+novel+germline+mutation+in+the+KRAS+gene%3A+case+study&rft.volume=54&rft.issue=6&rft.pages=574-8&rft.date=2013-12&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC3893993%23id-name%3DPMC&rft_id=info%3Apmid%2F24382853&rft_id=info%3Adoi%2F10.3325%2Fcmj.2013.54.574&rft.aulast=Nosan&rft.aufirst=G&rft.au=Bertok%2C+S&rft.au=Vesel%2C+S&rft.au=Yntema%2C+HG&rft.au=Paro-Panjan%2C+D&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC3893993&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-7"><span class="mw-cite-backlink"><b><a href="#cite_ref-7">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFRomanoAllansonDahlgrenGelb2010" class="citation journal cs1">Romano, Alicia A.; Allanson, Judith E.; Dahlgren, Jovanna; Gelb, Bruce D.; Hall, Bryan; Pierpont, Mary Ella; Roberts, Amy E.; Robinson, Wanda; Takemoto, Clifford M.; Noonan, Jacqueline A. (October 2010). "Noonan syndrome: clinical features, diagnosis, and management guidelines". <i>Pediatrics</i>. <b>126</b> (4): 746–759. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1542%2Fpeds.2009-3207">10.1542/peds.2009-3207</a>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/1098-4275">1098-4275</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/20876176">20876176</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:11297756">11297756</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Pediatrics&rft.atitle=Noonan+syndrome%3A+clinical+features%2C+diagnosis%2C+and+management+guidelines&rft.volume=126&rft.issue=4&rft.pages=746-759&rft.date=2010-10&rft.issn=1098-4275&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A11297756%23id-name%3DS2CID&rft_id=info%3Apmid%2F20876176&rft_id=info%3Adoi%2F10.1542%2Fpeds.2009-3207&rft.aulast=Romano&rft.aufirst=Alicia+A.&rft.au=Allanson%2C+Judith+E.&rft.au=Dahlgren%2C+Jovanna&rft.au=Gelb%2C+Bruce+D.&rft.au=Hall%2C+Bryan&rft.au=Pierpont%2C+Mary+Ella&rft.au=Roberts%2C+Amy+E.&rft.au=Robinson%2C+Wanda&rft.au=Takemoto%2C+Clifford+M.&rft.au=Noonan%2C+Jacqueline+A.&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-:11-8"><span class="mw-cite-backlink">^ <a href="#cite_ref-:11_8-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-:11_8-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-:11_8-2"><sup><i><b>c</b></i></sup></a> <a href="#cite_ref-:11_8-3"><sup><i><b>d</b></i></sup></a> <a href="#cite_ref-:11_8-4"><sup><i><b>e</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFAllansonRoberts1993" class="citation cs2">Allanson, Judith E.; Roberts, Amy E. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), <a rel="nofollow" class="external text" href="http://www.ncbi.nlm.nih.gov/books/NBK1124/">"Noonan Syndrome"</a>, <i>GeneReviews®</i>, University of Washington, Seattle, <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/20301303">20301303</a><span class="reference-accessdate">, retrieved <span class="nowrap">2019-11-18</span></span></cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=GeneReviews%C2%AE&rft.atitle=Noonan+Syndrome&rft.date=1993&rft_id=info%3Apmid%2F20301303&rft.aulast=Allanson&rft.aufirst=Judith+E.&rft.au=Roberts%2C+Amy+E.&rft_id=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fbooks%2FNBK1124%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-9"><span class="mw-cite-backlink"><b><a href="#cite_ref-9">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFAndersonCnotaJamesMiller2018" class="citation journal cs1">Anderson, Kailyn; Cnota, James; James, Jeanne; Miller, Erin M.; Parrott, Ashley; Pilipenko, Valentina; Weaver, Kathryn Nicole; Shikany, Amy (2018-12-16). "Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis". <i>Congenital Heart Disease</i>. <b>14</b> (2): 264–273. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1111%2Fchd.12721">10.1111/chd.12721</a>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/1747-079X">1747-079X</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/30556322">30556322</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:58767341">58767341</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Congenital+Heart+Disease&rft.atitle=Prevalence+of+Noonan+spectrum+disorders+in+a+pediatric+population+with+valvar+pulmonary+stenosis&rft.volume=14&rft.issue=2&rft.pages=264-273&rft.date=2018-12-16&rft.issn=1747-079X&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A58767341%23id-name%3DS2CID&rft_id=info%3Apmid%2F30556322&rft_id=info%3Adoi%2F10.1111%2Fchd.12721&rft.aulast=Anderson&rft.aufirst=Kailyn&rft.au=Cnota%2C+James&rft.au=James%2C+Jeanne&rft.au=Miller%2C+Erin+M.&rft.au=Parrott%2C+Ashley&rft.au=Pilipenko%2C+Valentina&rft.au=Weaver%2C+Kathryn+Nicole&rft.au=Shikany%2C+Amy&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-10"><span class="mw-cite-backlink"><b><a href="#cite_ref-10">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFRivero-GarcíaCampuzano-EstradaHernandez-Felix2023" class="citation journal cs1">Rivero-García, Pamela; Campuzano-Estrada, Isabel del Carmen; Hernandez-Felix, Jorge Humberto (2023). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10290193">"Hypertrophic cardiomyopathy in an adult patient with Noonan syndrome with multiple lentigines"</a>. <i>Clinical Case Reports</i>. <b>11</b> (6): e7607. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.1002%2Fccr3.7607">10.1002/ccr3.7607</a></span>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/2050-0904">2050-0904</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10290193">10290193</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/37361648">37361648</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Clinical+Case+Reports&rft.atitle=Hypertrophic+cardiomyopathy+in+an+adult+patient+with+Noonan+syndrome+with+multiple+lentigines&rft.volume=11&rft.issue=6&rft.pages=e7607&rft.date=2023&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC10290193%23id-name%3DPMC&rft.issn=2050-0904&rft_id=info%3Apmid%2F37361648&rft_id=info%3Adoi%2F10.1002%2Fccr3.7607&rft.aulast=Rivero-Garc%C3%ADa&rft.aufirst=Pamela&rft.au=Campuzano-Estrada%2C+Isabel+del+Carmen&rft.au=Hernandez-Felix%2C+Jorge+Humberto&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC10290193&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-11"><span class="mw-cite-backlink"><b><a href="#cite_ref-11">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFMarinoDigilioToscanoGiannotti1999" class="citation journal cs1">Marino, Bruno; Digilio, Maria Cristina; Toscano, Alessandra; Giannotti, Aldo; Dallapiccola, Bruno (December 1999). "Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal". <i>The Journal of Pediatrics</i>. <b>135</b> (6): 703–706. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fs0022-3476%2899%2970088-0">10.1016/s0022-3476(99)70088-0</a>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/0022-3476">0022-3476</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/10586172">10586172</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=The+Journal+of+Pediatrics&rft.atitle=Congenital+heart+diseases+in+children+with+Noonan+syndrome%3A+An+expanded+cardiac+spectrum+with+high+prevalence+of+atrioventricular+canal&rft.volume=135&rft.issue=6&rft.pages=703-706&rft.date=1999-12&rft.issn=0022-3476&rft_id=info%3Apmid%2F10586172&rft_id=info%3Adoi%2F10.1016%2Fs0022-3476%2899%2970088-0&rft.aulast=Marino&rft.aufirst=Bruno&rft.au=Digilio%2C+Maria+Cristina&rft.au=Toscano%2C+Alessandra&rft.au=Giannotti%2C+Aldo&rft.au=Dallapiccola%2C+Bruno&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-12"><span class="mw-cite-backlink"><b><a href="#cite_ref-12">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFLinglartGelb2020" class="citation journal cs1">Linglart, Léa; Gelb, Bruce D. (2020-02-05). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7682536">"Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment"</a>. <i>American Journal of Medical Genetics Part C: Seminars in Medical Genetics</i>. <b>184</b> (1): 73–80. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1002%2Fajmg.c.31765">10.1002/ajmg.c.31765</a>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/1552-4868">1552-4868</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7682536">7682536</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/32022400">32022400</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=American+Journal+of+Medical+Genetics+Part+C%3A+Seminars+in+Medical+Genetics&rft.atitle=Congenital+heart+defects+in+Noonan+syndrome%3A+Diagnosis%2C+management%2C+and+treatment&rft.volume=184&rft.issue=1&rft.pages=73-80&rft.date=2020-02-05&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC7682536%23id-name%3DPMC&rft.issn=1552-4868&rft_id=info%3Apmid%2F32022400&rft_id=info%3Adoi%2F10.1002%2Fajmg.c.31765&rft.aulast=Linglart&rft.aufirst=L%C3%A9a&rft.au=Gelb%2C+Bruce+D.&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC7682536&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-13"><span class="mw-cite-backlink"><b><a href="#cite_ref-13">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFRoelofsJanssenWingbermühleKessels2016" class="citation journal cs1">Roelofs, Renée L.; Janssen, Nikki; Wingbermühle, Ellen; Kessels, Roy P.C.; Egger, Jos I.M. (2016-05-03). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864201">"Intellectual development in Noonan syndrome: a longitudinal study"</a>. <i>Brain and Behavior</i>. <b>6</b> (7): e00479. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.1002%2Fbrb3.479">10.1002/brb3.479</a></span>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/2162-3279">2162-3279</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864201">4864201</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/27247851">27247851</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Brain+and+Behavior&rft.atitle=Intellectual+development+in+Noonan+syndrome%3A+a+longitudinal+study&rft.volume=6&rft.issue=7&rft.pages=e00479&rft.date=2016-05-03&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC4864201%23id-name%3DPMC&rft.issn=2162-3279&rft_id=info%3Apmid%2F27247851&rft_id=info%3Adoi%2F10.1002%2Fbrb3.479&rft.aulast=Roelofs&rft.aufirst=Ren%C3%A9e+L.&rft.au=Janssen%2C+Nikki&rft.au=Wingberm%C3%BChle%2C+Ellen&rft.au=Kessels%2C+Roy+P.C.&rft.au=Egger%2C+Jos+I.M.&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC4864201&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-14"><span class="mw-cite-backlink"><b><a href="#cite_ref-14">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFvan_der_BurgtThoonenRoosenboomAssman-Hulsmans1999" class="citation journal cs1">van der Burgt, Ineke; Thoonen, Geert; Roosenboom, Natasja; Assman-Hulsmans, Claire; Gabreels, Fons; Otten, Barto; Brunner, Han G. (1999). "Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression". <i>The Journal of Pediatrics</i>. <b>135</b> (6): 707–713. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fs0022-3476%2899%2970089-2">10.1016/s0022-3476(99)70089-2</a>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/0022-3476">0022-3476</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/10586173">10586173</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=The+Journal+of+Pediatrics&rft.atitle=Patterns+of+cognitive+functioning+in+school-aged+children+with+Noonan+syndrome+associated+with+variability+in+phenotypic+expression&rft.volume=135&rft.issue=6&rft.pages=707-713&rft.date=1999&rft.issn=0022-3476&rft_id=info%3Apmid%2F10586173&rft_id=info%3Adoi%2F10.1016%2Fs0022-3476%2899%2970089-2&rft.aulast=van+der+Burgt&rft.aufirst=Ineke&rft.au=Thoonen%2C+Geert&rft.au=Roosenboom%2C+Natasja&rft.au=Assman-Hulsmans%2C+Claire&rft.au=Gabreels%2C+Fons&rft.au=Otten%2C+Barto&rft.au=Brunner%2C+Han+G.&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-15"><span class="mw-cite-backlink"><b><a href="#cite_ref-15">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFWingbermühleRoelofsvan_der_BurgtSouren2012" class="citation journal cs1">Wingbermühle, E.; Roelofs, R. L.; van der Burgt, I.; Souren, P. M.; Verhoeven, W. M. A.; Kessels, R. P. C.; Egger, J. I. M. (2012-08-10). "Cognitive functioning of adults with Noonan syndrome: a case-control study". <i>Genes, Brain and Behavior</i>. <b>11</b> (7): 785–793. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1111%2Fj.1601-183x.2012.00821.x">10.1111/j.1601-183x.2012.00821.x</a>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/1601-1848">1601-1848</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/22783933">22783933</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:31704142">31704142</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Genes%2C+Brain+and+Behavior&rft.atitle=Cognitive+functioning+of+adults+with+Noonan+syndrome%3A+a+case-control+study&rft.volume=11&rft.issue=7&rft.pages=785-793&rft.date=2012-08-10&rft.issn=1601-1848&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A31704142%23id-name%3DS2CID&rft_id=info%3Apmid%2F22783933&rft_id=info%3Adoi%2F10.1111%2Fj.1601-183x.2012.00821.x&rft.aulast=Wingberm%C3%BChle&rft.aufirst=E.&rft.au=Roelofs%2C+R.+L.&rft.au=van+der+Burgt%2C+I.&rft.au=Souren%2C+P.+M.&rft.au=Verhoeven%2C+W.+M.+A.&rft.au=Kessels%2C+R.+P.+C.&rft.au=Egger%2C+J.+I.+M.&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-16"><span class="mw-cite-backlink"><b><a href="#cite_ref-16">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFGalarzaMartínez-LageHamSood2010" class="citation journal cs1">Galarza, Marcelo; Martínez-Lage, Juan F.; Ham, Steven; Sood, Sandeep (2010). "Cerebral Anomalies and Chiari Type 1 Malformation". <i>Pediatric Neurosurgery</i>. <b>46</b> (6): 442–449. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1159%2F000327220">10.1159/000327220</a>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/1016-2291">1016-2291</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/21540621">21540621</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:11867857">11867857</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Pediatric+Neurosurgery&rft.atitle=Cerebral+Anomalies+and+Chiari+Type+1+Malformation&rft.volume=46&rft.issue=6&rft.pages=442-449&rft.date=2010&rft.issn=1016-2291&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A11867857%23id-name%3DS2CID&rft_id=info%3Apmid%2F21540621&rft_id=info%3Adoi%2F10.1159%2F000327220&rft.aulast=Galarza&rft.aufirst=Marcelo&rft.au=Mart%C3%ADnez-Lage%2C+Juan+F.&rft.au=Ham%2C+Steven&rft.au=Sood%2C+Sandeep&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-17"><span class="mw-cite-backlink"><b><a href="#cite_ref-17">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFDavicoD'AlessandroBorgognoCampagna2022" class="citation journal cs1">Davico, Chiara; D'Alessandro, Rossella; Borgogno, Marta; Campagna, Filippa; Torta, Francesca; Ricci, Federica; Amianto, Federico; Vittorini, Roberta; Carli, Diana; Mussa, Alessandro; Vitiello, Benedetto; Ferrero, Giovanni Battista (2022-05-16). "Epilepsy in a cohort of children with Noonan syndrome and related disorders". <i>European Journal of Pediatrics</i>. <b>181</b> (8): 2919–2926. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1007%2Fs00431-022-04497-6">10.1007/s00431-022-04497-6</a>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/1432-1076">1432-1076</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/35575813">35575813</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:248800780">248800780</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=European+Journal+of+Pediatrics&rft.atitle=Epilepsy+in+a+cohort+of+children+with+Noonan+syndrome+and+related+disorders&rft.volume=181&rft.issue=8&rft.pages=2919-2926&rft.date=2022-05-16&rft.issn=1432-1076&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A248800780%23id-name%3DS2CID&rft_id=info%3Apmid%2F35575813&rft_id=info%3Adoi%2F10.1007%2Fs00431-022-04497-6&rft.aulast=Davico&rft.aufirst=Chiara&rft.au=D%27Alessandro%2C+Rossella&rft.au=Borgogno%2C+Marta&rft.au=Campagna%2C+Filippa&rft.au=Torta%2C+Francesca&rft.au=Ricci%2C+Federica&rft.au=Amianto%2C+Federico&rft.au=Vittorini%2C+Roberta&rft.au=Carli%2C+Diana&rft.au=Mussa%2C+Alessandro&rft.au=Vitiello%2C+Benedetto&rft.au=Ferrero%2C+Giovanni+Battista&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-18"><span class="mw-cite-backlink"><b><a href="#cite_ref-18">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFUnumaTomomasaNomaYamamoto2023" class="citation journal cs1">Unuma, Kana; Tomomasa, Dan; Noma, Kosuke; Yamamoto, Kouhei; Matsuyama, Taka-aki; Makino, Yohsuke; Hijikata, Atsushi; Wen, Shuheng; Ogata, Tsutomu; Okamoto, Nobuhiko; Okada, Satoshi; Ohashi, Kenichi; Uemura, Koichi; Kanegane, Hirokazu (2023-04-18). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10151512">"Case Report: Molecular autopsy underlie COVID-19-associated sudden, unexplained child mortality"</a>. <i>Frontiers in Immunology</i>. <b>14</b>. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.3389%2Ffimmu.2023.1121059">10.3389/fimmu.2023.1121059</a></span>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/1664-3224">1664-3224</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10151512">10151512</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/37143668">37143668</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Frontiers+in+Immunology&rft.atitle=Case+Report%3A+Molecular+autopsy+underlie+COVID-19-associated+sudden%2C+unexplained+child+mortality&rft.volume=14&rft.date=2023-04-18&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC10151512%23id-name%3DPMC&rft.issn=1664-3224&rft_id=info%3Apmid%2F37143668&rft_id=info%3Adoi%2F10.3389%2Ffimmu.2023.1121059&rft.aulast=Unuma&rft.aufirst=Kana&rft.au=Tomomasa%2C+Dan&rft.au=Noma%2C+Kosuke&rft.au=Yamamoto%2C+Kouhei&rft.au=Matsuyama%2C+Taka-aki&rft.au=Makino%2C+Yohsuke&rft.au=Hijikata%2C+Atsushi&rft.au=Wen%2C+Shuheng&rft.au=Ogata%2C+Tsutomu&rft.au=Okamoto%2C+Nobuhiko&rft.au=Okada%2C+Satoshi&rft.au=Ohashi%2C+Kenichi&rft.au=Uemura%2C+Koichi&rft.au=Kanegane%2C+Hirokazu&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC10151512&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-19"><span class="mw-cite-backlink"><b><a href="#cite_ref-19">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFFernándezDienderHermida-NogueiraHuang2023" class="citation journal cs1">Fernández, Delia I.; Diender, Marije; Hermida-Nogueira, Lidia; Huang, Jingnan; Veiras, Sonia; Henskens, Yvonne M.C.; te Loo, Maroeska W.M.; Heemskerk, Johan W.M.; Kuijpers, Marijke J.E.; García, Ángel (2023). <a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fj.thromres.2023.06.001">"Role of SHP2 (PTPN11) in glycoprotein VI-dependent thrombus formation: Improved platelet responsiveness by the allosteric drug SHP099 in Noonan syndrome patients"</a>. <i>Thrombosis Research</i>. <b>228</b>: 105–116. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fj.thromres.2023.06.001">10.1016/j.thromres.2023.06.001</a></span>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/0049-3848">0049-3848</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/37302266">37302266</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Thrombosis+Research&rft.atitle=Role+of+SHP2+%28PTPN11%29+in+glycoprotein+VI-dependent+thrombus+formation%3A+Improved+platelet+responsiveness+by+the+allosteric+drug+SHP099+in+Noonan+syndrome+patients&rft.volume=228&rft.pages=105-116&rft.date=2023&rft.issn=0049-3848&rft_id=info%3Apmid%2F37302266&rft_id=info%3Adoi%2F10.1016%2Fj.thromres.2023.06.001&rft.aulast=Fern%C3%A1ndez&rft.aufirst=Delia+I.&rft.au=Diender%2C+Marije&rft.au=Hermida-Nogueira%2C+Lidia&rft.au=Huang%2C+Jingnan&rft.au=Veiras%2C+Sonia&rft.au=Henskens%2C+Yvonne+M.C.&rft.au=te+Loo%2C+Maroeska+W.M.&rft.au=Heemskerk%2C+Johan+W.M.&rft.au=Kuijpers%2C+Marijke+J.E.&rft.au=Garc%C3%ADa%2C+%C3%81ngel&rft_id=https%3A%2F%2Fdoi.org%2F10.1016%252Fj.thromres.2023.06.001&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Razzaque2012-20"><span class="mw-cite-backlink"><b><a href="#cite_ref-Razzaque2012_20-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFRazzaqueKomoikeNishizawaInai2012" class="citation journal cs1">Razzaque MA, Komoike Y, Nishizawa T, Inai K, Furutani M, Higashinakagawa T, Matsuoka R (March 2012). "Characterization of a novel KRAS mutation identified in Noonan syndrome". <i>American Journal of Medical Genetics. Part A</i>. <b>158A</b> (3): 524–32. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1002%2Fajmg.a.34419">10.1002/ajmg.a.34419</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/22302539">22302539</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:34135931">34135931</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=American+Journal+of+Medical+Genetics.+Part+A&rft.atitle=Characterization+of+a+novel+KRAS+mutation+identified+in+Noonan+syndrome&rft.volume=158A&rft.issue=3&rft.pages=524-32&rft.date=2012-03&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A34135931%23id-name%3DS2CID&rft_id=info%3Apmid%2F22302539&rft_id=info%3Adoi%2F10.1002%2Fajmg.a.34419&rft.aulast=Razzaque&rft.aufirst=MA&rft.au=Komoike%2C+Y&rft.au=Nishizawa%2C+T&rft.au=Inai%2C+K&rft.au=Furutani%2C+M&rft.au=Higashinakagawa%2C+T&rft.au=Matsuoka%2C+R&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-21"><span class="mw-cite-backlink"><b><a href="#cite_ref-21">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFSharlandMorganSmithBurch1993" class="citation journal cs1">Sharland, Michael; Morgan, Maureen; Smith, Gill; Burch, Michael; Patton, Michael A. (1993-02-15). "Genetic counselling in Noonan syndrome". <i>American Journal of Medical Genetics</i>. <b>45</b> (4): 437–440. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1002%2Fajmg.1320450407">10.1002/ajmg.1320450407</a>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/0148-7299">0148-7299</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/8465845">8465845</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=American+Journal+of+Medical+Genetics&rft.atitle=Genetic+counselling+in+Noonan+syndrome&rft.volume=45&rft.issue=4&rft.pages=437-440&rft.date=1993-02-15&rft.issn=0148-7299&rft_id=info%3Apmid%2F8465845&rft_id=info%3Adoi%2F10.1002%2Fajmg.1320450407&rft.aulast=Sharland&rft.aufirst=Michael&rft.au=Morgan%2C+Maureen&rft.au=Smith%2C+Gill&rft.au=Burch%2C+Michael&rft.au=Patton%2C+Michael+A.&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-22"><span class="mw-cite-backlink"><b><a href="#cite_ref-22">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFEl_BouchikhiBelhassanMoufidIraqui_Houssaini2016" class="citation journal cs1">El Bouchikhi, Ihssane; Belhassan, Khadija; Moufid, Fatima Zohra; Iraqui Houssaini, Mohammed; Bouguenouch, Laila; Samri, Imane; Atmani, Samir; Ouldim, Karim (2016). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372459">"Noonan syndrome-causing genes: Molecular update and an assessment of the mutation rate"</a>. <i>International Journal of Pediatrics and Adolescent Medicine</i>. <b>3</b> (4): 133–142. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fj.ijpam.2016.06.003">10.1016/j.ijpam.2016.06.003</a></span>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/2352-6467">2352-6467</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372459">6372459</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/30805484">30805484</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=International+Journal+of+Pediatrics+and+Adolescent+Medicine&rft.atitle=Noonan+syndrome-causing+genes%3A+Molecular+update+and+an+assessment+of+the+mutation+rate&rft.volume=3&rft.issue=4&rft.pages=133-142&rft.date=2016&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC6372459%23id-name%3DPMC&rft.issn=2352-6467&rft_id=info%3Apmid%2F30805484&rft_id=info%3Adoi%2F10.1016%2Fj.ijpam.2016.06.003&rft.aulast=El+Bouchikhi&rft.aufirst=Ihssane&rft.au=Belhassan%2C+Khadija&rft.au=Moufid%2C+Fatima+Zohra&rft.au=Iraqui+Houssaini%2C+Mohammed&rft.au=Bouguenouch%2C+Laila&rft.au=Samri%2C+Imane&rft.au=Atmani%2C+Samir&rft.au=Ouldim%2C+Karim&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC6372459&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-23"><span class="mw-cite-backlink"><b><a href="#cite_ref-23">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFZenkerBuheitelRauchKoenig2004" class="citation journal cs1">Zenker, Martin; Buheitel, Gernot; Rauch, Ralf; Koenig, Rainer; Bosse, Kirstin; Kress, Wolfram; Tietze, Hans-Ulrich; Doerr, Helmuth-Guenther; Hofbeck, Michael; Singer, Helmut; Reis, André; Rauch, Anita (2004). "Genotype-phenotype correlations in Noonan syndrome". <i>The Journal of Pediatrics</i>. <b>144</b> (3): 368–374. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fj.jpeds.2003.11.032">10.1016/j.jpeds.2003.11.032</a>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/0022-3476">0022-3476</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/15001945">15001945</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=The+Journal+of+Pediatrics&rft.atitle=Genotype-phenotype+correlations+in+Noonan+syndrome&rft.volume=144&rft.issue=3&rft.pages=368-374&rft.date=2004&rft.issn=0022-3476&rft_id=info%3Apmid%2F15001945&rft_id=info%3Adoi%2F10.1016%2Fj.jpeds.2003.11.032&rft.aulast=Zenker&rft.aufirst=Martin&rft.au=Buheitel%2C+Gernot&rft.au=Rauch%2C+Ralf&rft.au=Koenig%2C+Rainer&rft.au=Bosse%2C+Kirstin&rft.au=Kress%2C+Wolfram&rft.au=Tietze%2C+Hans-Ulrich&rft.au=Doerr%2C+Helmuth-Guenther&rft.au=Hofbeck%2C+Michael&rft.au=Singer%2C+Helmut&rft.au=Reis%2C+Andr%C3%A9&rft.au=Rauch%2C+Anita&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-24"><span class="mw-cite-backlink"><b><a href="#cite_ref-24">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFKoKimKimYoo2008" class="citation journal cs1">Ko, Jung Min; Kim, Jae-Min; Kim, Gu-Hwan; Yoo, Han-Wook (2008-11-20). <a rel="nofollow" class="external text" href="https://doi.org/10.1007%2Fs10038-008-0343-6">"PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype–phenotype correlation in Korean patients with Noonan syndrome"</a>. <i>Journal of Human Genetics</i>. <b>53</b> (11–12): 999–1006. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.1007%2Fs10038-008-0343-6">10.1007/s10038-008-0343-6</a></span>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/1434-5161">1434-5161</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/19020799">19020799</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Journal+of+Human+Genetics&rft.atitle=PTPN11%2C+SOS1%2C+KRAS%2C+and+RAF1+gene+analysis%2C+and+genotype%E2%80%93phenotype+correlation+in+Korean+patients+with+Noonan+syndrome&rft.volume=53&rft.issue=11%E2%80%9312&rft.pages=999-1006&rft.date=2008-11-20&rft.issn=1434-5161&rft_id=info%3Apmid%2F19020799&rft_id=info%3Adoi%2F10.1007%2Fs10038-008-0343-6&rft.aulast=Ko&rft.aufirst=Jung+Min&rft.au=Kim%2C+Jae-Min&rft.au=Kim%2C+Gu-Hwan&rft.au=Yoo%2C+Han-Wook&rft_id=https%3A%2F%2Fdoi.org%2F10.1007%252Fs10038-008-0343-6&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-25"><span class="mw-cite-backlink"><b><a href="#cite_ref-25">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFLeeKimJinKim2011" class="citation journal cs1">Lee, Beom Hee; Kim, Jae-Min; Jin, Hye Young; Kim, Gu-Hwan; Choi, Jin-Ho; Yoo, Han-Wook (2011). "Spectrum of Mutations in Noonan Syndrome and Their Correlation with Phenotypes". <i>The Journal of Pediatrics</i>. <b>159</b> (6): 1029–1035. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fj.jpeds.2011.05.024">10.1016/j.jpeds.2011.05.024</a>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/0022-3476">0022-3476</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/21784453">21784453</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=The+Journal+of+Pediatrics&rft.atitle=Spectrum+of+Mutations+in+Noonan+Syndrome+and+Their+Correlation+with+Phenotypes&rft.volume=159&rft.issue=6&rft.pages=1029-1035&rft.date=2011&rft.issn=0022-3476&rft_id=info%3Apmid%2F21784453&rft_id=info%3Adoi%2F10.1016%2Fj.jpeds.2011.05.024&rft.aulast=Lee&rft.aufirst=Beom+Hee&rft.au=Kim%2C+Jae-Min&rft.au=Jin%2C+Hye+Young&rft.au=Kim%2C+Gu-Hwan&rft.au=Choi%2C+Jin-Ho&rft.au=Yoo%2C+Han-Wook&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-26"><span class="mw-cite-backlink"><b><a href="#cite_ref-26">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFTartagliaMehlerGoldbergZampino2001" class="citation journal cs1">Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, et al. (December 2001). "Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome". <i>Nature Genetics</i>. <b>29</b> (4): 465–8. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1038%2Fng772">10.1038/ng772</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/11704759">11704759</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:14627986">14627986</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Nature+Genetics&rft.atitle=Mutations+in+PTPN11%2C+encoding+the+protein+tyrosine+phosphatase+SHP-2%2C+cause+Noonan+syndrome&rft.volume=29&rft.issue=4&rft.pages=465-8&rft.date=2001-12&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A14627986%23id-name%3DS2CID&rft_id=info%3Apmid%2F11704759&rft_id=info%3Adoi%2F10.1038%2Fng772&rft.aulast=Tartaglia&rft.aufirst=M&rft.au=Mehler%2C+EL&rft.au=Goldberg%2C+R&rft.au=Zampino%2C+G&rft.au=Brunner%2C+HG&rft.au=Kremer%2C+H&rft.au=van+der+Burgt%2C+I&rft.au=Crosby%2C+AH&rft.au=Ion%2C+A&rft.au=Jeffery%2C+S&rft.au=Kalidas%2C+K&rft.au=Patton%2C+MA&rft.au=Kucherlapati%2C+RS&rft.au=Gelb%2C+BD&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-27"><span class="mw-cite-backlink"><b><a href="#cite_ref-27">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFShchelochkovPatelWeissenbergerChinault2008" class="citation journal cs1">Shchelochkov OA, Patel A, Weissenberger GM, Chinault AC, Wiszniewska J, Fernandes PH, et al. (April 2008). "Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome". <i>American Journal of Medical Genetics. Part A</i>. <b>146A</b> (8): 1042–8. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1002%2Fajmg.a.32215">10.1002/ajmg.a.32215</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/18348260">18348260</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:205309115">205309115</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=American+Journal+of+Medical+Genetics.+Part+A&rft.atitle=Duplication+of+chromosome+band+12q24.11q24.23+results+in+apparent+Noonan+syndrome&rft.volume=146A&rft.issue=8&rft.pages=1042-8&rft.date=2008-04&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A205309115%23id-name%3DS2CID&rft_id=info%3Apmid%2F18348260&rft_id=info%3Adoi%2F10.1002%2Fajmg.a.32215&rft.aulast=Shchelochkov&rft.aufirst=OA&rft.au=Patel%2C+A&rft.au=Weissenberger%2C+GM&rft.au=Chinault%2C+AC&rft.au=Wiszniewska%2C+J&rft.au=Fernandes%2C+PH&rft.au=Eng%2C+C&rft.au=Kukolich%2C+MK&rft.au=Sutton%2C+VR&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-28"><span class="mw-cite-backlink"><b><a href="#cite_ref-28">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFvan_Der_BurgtBrunner2000" class="citation journal cs1">van Der Burgt I, Brunner H (September 2000). "Genetic heterogeneity in Noonan syndrome: evidence for an autosomal recessive form". <i>American Journal of Medical Genetics</i>. <b>94</b> (1): 46–51. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1002%2F1096-8628%2820000904%2994%3A1%3C46%3A%3AAID-AJMG10%3E3.0.CO%3B2-I">10.1002/1096-8628(20000904)94:1<46::AID-AJMG10>3.0.CO;2-I</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/10982482">10982482</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=American+Journal+of+Medical+Genetics&rft.atitle=Genetic+heterogeneity+in+Noonan+syndrome%3A+evidence+for+an+autosomal+recessive+form&rft.volume=94&rft.issue=1&rft.pages=46-51&rft.date=2000-09&rft_id=info%3Adoi%2F10.1002%2F1096-8628%2820000904%2994%3A1%3C46%3A%3AAID-AJMG10%3E3.0.CO%3B2-I&rft_id=info%3Apmid%2F10982482&rft.aulast=van+Der+Burgt&rft.aufirst=I&rft.au=Brunner%2C+H&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-29"><span class="mw-cite-backlink"><b><a href="#cite_ref-29">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFSchubbertZenkerRoweBöll2006" class="citation journal cs1">Schubbert S, Zenker M, Rowe SL, Böll S, Klein C, Bollag G, et al. (March 2006). "Germline KRAS mutations cause Noonan syndrome". <i>Nature Genetics</i>. <b>38</b> (3): 331–6. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1038%2Fng1748">10.1038/ng1748</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/16474405">16474405</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:8193354">8193354</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Nature+Genetics&rft.atitle=Germline+KRAS+mutations+cause+Noonan+syndrome&rft.volume=38&rft.issue=3&rft.pages=331-6&rft.date=2006-03&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A8193354%23id-name%3DS2CID&rft_id=info%3Apmid%2F16474405&rft_id=info%3Adoi%2F10.1038%2Fng1748&rft.aulast=Schubbert&rft.aufirst=S&rft.au=Zenker%2C+M&rft.au=Rowe%2C+SL&rft.au=B%C3%B6ll%2C+S&rft.au=Klein%2C+C&rft.au=Bollag%2C+G&rft.au=van+der+Burgt%2C+I&rft.au=Musante%2C+L&rft.au=Kalscheuer%2C+V&rft.au=Wehner%2C+LE&rft.au=Nguyen%2C+H&rft.au=West%2C+B&rft.au=Zhang%2C+KY&rft.au=Sistermans%2C+E&rft.au=Rauch%2C+A&rft.au=Niemeyer%2C+CM&rft.au=Shannon%2C+K&rft.au=Kratz%2C+CP&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-30"><span class="mw-cite-backlink"><b><a href="#cite_ref-30">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFBentires-AljKontaridisNeel2006" class="citation journal cs1">Bentires-Alj M, Kontaridis MI, Neel BG (March 2006). "Stops along the RAS pathway in human genetic disease". <i>Nature Medicine</i>. <b>12</b> (3): 283–5. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1038%2Fnm0306-283">10.1038/nm0306-283</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/16520774">16520774</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:6989331">6989331</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Nature+Medicine&rft.atitle=Stops+along+the+RAS+pathway+in+human+genetic+disease&rft.volume=12&rft.issue=3&rft.pages=283-5&rft.date=2006-03&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A6989331%23id-name%3DS2CID&rft_id=info%3Apmid%2F16520774&rft_id=info%3Adoi%2F10.1038%2Fnm0306-283&rft.aulast=Bentires-Alj&rft.aufirst=M&rft.au=Kontaridis%2C+MI&rft.au=Neel%2C+BG&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-31"><span class="mw-cite-backlink"><b><a href="#cite_ref-31">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFRobertsArakiSwansonMontgomery2007" class="citation journal cs1">Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, et al. (January 2007). "Germline gain-of-function mutations in SOS1 cause Noonan syndrome". <i>Nature Genetics</i>. <b>39</b> (1): 70–4. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1038%2Fng1926">10.1038/ng1926</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/17143285">17143285</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:10222262">10222262</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Nature+Genetics&rft.atitle=Germline+gain-of-function+mutations+in+SOS1+cause+Noonan+syndrome&rft.volume=39&rft.issue=1&rft.pages=70-4&rft.date=2007-01&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A10222262%23id-name%3DS2CID&rft_id=info%3Apmid%2F17143285&rft_id=info%3Adoi%2F10.1038%2Fng1926&rft.aulast=Roberts&rft.aufirst=AE&rft.au=Araki%2C+T&rft.au=Swanson%2C+KD&rft.au=Montgomery%2C+KT&rft.au=Schiripo%2C+TA&rft.au=Joshi%2C+VA&rft.au=Li%2C+L&rft.au=Yassin%2C+Y&rft.au=Tamburino%2C+AM&rft.au=Neel%2C+BG&rft.au=Kucherlapati%2C+RS&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-32"><span class="mw-cite-backlink"><b><a href="#cite_ref-32">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFRazzaqueNishizawaKomoikeYagi2007" class="citation journal cs1">Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, Amo R, et al. (August 2007). "Germline gain-of-function mutations in RAF1 cause Noonan syndrome". <i>Nature Genetics</i>. <b>39</b> (8): 1013–7. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1038%2Fng2078">10.1038/ng2078</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/17603482">17603482</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:29753972">29753972</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Nature+Genetics&rft.atitle=Germline+gain-of-function+mutations+in+RAF1+cause+Noonan+syndrome&rft.volume=39&rft.issue=8&rft.pages=1013-7&rft.date=2007-08&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A29753972%23id-name%3DS2CID&rft_id=info%3Apmid%2F17603482&rft_id=info%3Adoi%2F10.1038%2Fng2078&rft.aulast=Razzaque&rft.aufirst=MA&rft.au=Nishizawa%2C+T&rft.au=Komoike%2C+Y&rft.au=Yagi%2C+H&rft.au=Furutani%2C+M&rft.au=Amo%2C+R&rft.au=Kamisago%2C+M&rft.au=Momma%2C+K&rft.au=Katayama%2C+H&rft.au=Nakagawa%2C+M&rft.au=Fujiwara%2C+Y&rft.au=Matsushima%2C+M&rft.au=Mizuno%2C+K&rft.au=Tokuyama%2C+M&rft.au=Hirota%2C+H&rft.au=Muneuchi%2C+J&rft.au=Higashinakagawa%2C+T&rft.au=Matsuoka%2C+R&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-33"><span class="mw-cite-backlink"><b><a href="#cite_ref-33">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://web.archive.org/web/20170517212712/http://www.mayomedicallaboratories.com/interpretive-guide/?alpha=N">"Download Catalog - Mayo Medical Laboratories"</a>. <i>www.mayomedicallaboratories.com</i>. Archived from <a rel="nofollow" class="external text" href="http://www.mayomedicallaboratories.com/interpretive-guide/?alpha=N&unit_code=61851">the original</a> on 2017-05-17<span class="reference-accessdate">. Retrieved <span class="nowrap">2014-07-08</span></span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=www.mayomedicallaboratories.com&rft.atitle=Download+Catalog+-+Mayo+Medical+Laboratories&rft_id=http%3A%2F%2Fwww.mayomedicallaboratories.com%2Finterpretive-guide%2F%3Falpha%3DN%26unit_code%3D61851&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-34"><span class="mw-cite-backlink"><b><a href="#cite_ref-34">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFDe_LucaBottilloSarkozyCarta2005" class="citation journal cs1">De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, et al. (December 2005). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1285166">"NF1 gene mutations represent the major molecular event underlying neurofibromatosis–Noonan syndrome"</a>. <i>American Journal of Human Genetics</i>. <b>77</b> (6): 1092–101. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1086%2F498454">10.1086/498454</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1285166">1285166</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/16380919">16380919</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=American+Journal+of+Human+Genetics&rft.atitle=NF1+gene+mutations+represent+the+major+molecular+event+underlying+neurofibromatosis%E2%80%93Noonan+syndrome&rft.volume=77&rft.issue=6&rft.pages=1092-101&rft.date=2005-12&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1285166%23id-name%3DPMC&rft_id=info%3Apmid%2F16380919&rft_id=info%3Adoi%2F10.1086%2F498454&rft.aulast=De+Luca&rft.aufirst=A&rft.au=Bottillo%2C+I&rft.au=Sarkozy%2C+A&rft.au=Carta%2C+C&rft.au=Neri%2C+C&rft.au=Bellacchio%2C+E&rft.au=Schirinzi%2C+A&rft.au=Conti%2C+E&rft.au=Zampino%2C+G&rft.au=Battaglia%2C+A&rft.au=Majore%2C+S&rft.au=Rinaldi%2C+MM&rft.au=Carella%2C+M&rft.au=Marino%2C+B&rft.au=Pizzuti%2C+A&rft.au=Digilio%2C+MC&rft.au=Tartaglia%2C+M&rft.au=Dallapiccola%2C+B&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1285166&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-:1-35"><span class="mw-cite-backlink">^ <a href="#cite_ref-:1_35-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-:1_35-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFRobertsAllansonTartagliaGelb2013" class="citation journal cs1">Roberts, Amy E.; Allanson, Judith E.; Tartaglia, Marco; Gelb, Bruce D. (2013-01-26). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267483">"Noonan syndrome"</a>. <i>Lancet</i>. <b>381</b> (9863): 333–342. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2FS0140-6736%2812%2961023-X">10.1016/S0140-6736(12)61023-X</a>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/1474-547X">1474-547X</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267483">4267483</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/23312968">23312968</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Lancet&rft.atitle=Noonan+syndrome&rft.volume=381&rft.issue=9863&rft.pages=333-342&rft.date=2013-01-26&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC4267483%23id-name%3DPMC&rft.issn=1474-547X&rft_id=info%3Apmid%2F23312968&rft_id=info%3Adoi%2F10.1016%2FS0140-6736%2812%2961023-X&rft.aulast=Roberts&rft.aufirst=Amy+E.&rft.au=Allanson%2C+Judith+E.&rft.au=Tartaglia%2C+Marco&rft.au=Gelb%2C+Bruce+D.&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC4267483&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-:0-36"><span class="mw-cite-backlink">^ <a href="#cite_ref-:0_36-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-:0_36-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-:0_36-2"><sup><i><b>c</b></i></sup></a> <a href="#cite_ref-:0_36-3"><sup><i><b>d</b></i></sup></a> <a href="#cite_ref-:0_36-4"><sup><i><b>e</b></i></sup></a> <a href="#cite_ref-:0_36-5"><sup><i><b>f</b></i></sup></a> <a href="#cite_ref-:0_36-6"><sup><i><b>g</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFAllansonRoberts1993" class="citation cs2">Allanson, Judith E.; Roberts, Amy E. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), <a rel="nofollow" class="external text" href="http://www.ncbi.nlm.nih.gov/books/NBK1124/">"Noonan Syndrome"</a>, <i>GeneReviews®</i>, University of Washington, Seattle, <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/20301303">20301303</a><span class="reference-accessdate">, retrieved <span class="nowrap">2019-11-25</span></span></cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=GeneReviews%C2%AE&rft.atitle=Noonan+Syndrome&rft.date=1993&rft_id=info%3Apmid%2F20301303&rft.aulast=Allanson&rft.aufirst=Judith+E.&rft.au=Roberts%2C+Amy+E.&rft_id=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fbooks%2FNBK1124%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-37"><span class="mw-cite-backlink"><b><a href="#cite_ref-37">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFAllansonUpadhyayaWatsonPartington1991" class="citation journal cs1">Allanson, J. E.; Upadhyaya, M.; Watson, G. H.; Partington, M.; MacKenzie, A.; Lahey, D.; MacLeod, H.; Sarfarazi, M.; Broadhead, W.; Harper, P. S. (November 1991). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017110">"Watson syndrome: is it a subtype of type 1 neurofibromatosis?"</a>. <i>Journal of Medical Genetics</i>. <b>28</b> (11): 752–756. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1136%2Fjmg.28.11.752">10.1136/jmg.28.11.752</a>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/0022-2593">0022-2593</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017110">1017110</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/1770531">1770531</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Journal+of+Medical+Genetics&rft.atitle=Watson+syndrome%3A+is+it+a+subtype+of+type+1+neurofibromatosis%3F&rft.volume=28&rft.issue=11&rft.pages=752-756&rft.date=1991-11&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1017110%23id-name%3DPMC&rft.issn=0022-2593&rft_id=info%3Apmid%2F1770531&rft_id=info%3Adoi%2F10.1136%2Fjmg.28.11.752&rft.aulast=Allanson&rft.aufirst=J.+E.&rft.au=Upadhyaya%2C+M.&rft.au=Watson%2C+G.+H.&rft.au=Partington%2C+M.&rft.au=MacKenzie%2C+A.&rft.au=Lahey%2C+D.&rft.au=MacLeod%2C+H.&rft.au=Sarfarazi%2C+M.&rft.au=Broadhead%2C+W.&rft.au=Harper%2C+P.+S.&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1017110&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-38"><span class="mw-cite-backlink"><b><a href="#cite_ref-38">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFArmourAllanson2008" class="citation journal cs1">Armour, C. M.; Allanson, J. E. (April 2008). "Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations". <i>Journal of Medical Genetics</i>. <b>45</b> (4): 249–254. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1136%2Fjmg.2007.054460">10.1136/jmg.2007.054460</a>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/1468-6244">1468-6244</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/18039946">18039946</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:9742395">9742395</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Journal+of+Medical+Genetics&rft.atitle=Further+delineation+of+cardio-facio-cutaneous+syndrome%3A+clinical+features+of+38+individuals+with+proven+mutations&rft.volume=45&rft.issue=4&rft.pages=249-254&rft.date=2008-04&rft.issn=1468-6244&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A9742395%23id-name%3DS2CID&rft_id=info%3Apmid%2F18039946&rft_id=info%3Adoi%2F10.1136%2Fjmg.2007.054460&rft.aulast=Armour&rft.aufirst=C.+M.&rft.au=Allanson%2C+J.+E.&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-39"><span class="mw-cite-backlink"><b><a href="#cite_ref-39">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFKerrDelrueSigaudyPerveen2006" class="citation journal cs1">Kerr, B.; Delrue, M.-A.; Sigaudy, S.; Perveen, R.; Marche, M.; Burgelin, I.; Stef, M.; Tang, B.; Eden, O. B.; O'Sullivan, J.; De Sandre-Giovannoli, A. (May 2006). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2564514">"Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases"</a>. <i>Journal of Medical Genetics</i>. <b>43</b> (5): 401–405. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1136%2Fjmg.2005.040352">10.1136/jmg.2005.040352</a>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/1468-6244">1468-6244</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2564514">2564514</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/16443854">16443854</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Journal+of+Medical+Genetics&rft.atitle=Genotype-phenotype+correlation+in+Costello+syndrome%3A+HRAS+mutation+analysis+in+43+cases&rft.volume=43&rft.issue=5&rft.pages=401-405&rft.date=2006-05&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC2564514%23id-name%3DPMC&rft.issn=1468-6244&rft_id=info%3Apmid%2F16443854&rft_id=info%3Adoi%2F10.1136%2Fjmg.2005.040352&rft.aulast=Kerr&rft.aufirst=B.&rft.au=Delrue%2C+M.-A.&rft.au=Sigaudy%2C+S.&rft.au=Perveen%2C+R.&rft.au=Marche%2C+M.&rft.au=Burgelin%2C+I.&rft.au=Stef%2C+M.&rft.au=Tang%2C+B.&rft.au=Eden%2C+O.+B.&rft.au=O%27Sullivan%2C+J.&rft.au=De+Sandre-Giovannoli%2C+A.&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC2564514&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-40"><span class="mw-cite-backlink"><b><a href="#cite_ref-40">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFGrippLinStableyNicholson2006" class="citation journal cs1">Gripp, Karen W.; Lin, Angela E.; Stabley, Deborah L.; Nicholson, Linda; Scott, Charles I.; Doyle, Daniel; Aoki, Yoko; Matsubara, Yoichi; <a href="/wiki/Elaine_Zackai" title="Elaine Zackai">Zackai, Elaine H.</a>; Lapunzina, Pablo; Gonzalez-Meneses, Antonio (2006-01-01). "HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation". <i>American Journal of Medical Genetics Part A</i>. <b>140A</b> (1): 1–7. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1002%2Fajmg.a.31047">10.1002/ajmg.a.31047</a>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/1552-4825">1552-4825</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/16329078">16329078</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:27334655">27334655</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=American+Journal+of+Medical+Genetics+Part+A&rft.atitle=HRAS+mutation+analysis+in+Costello+syndrome%3A+Genotype+and+phenotype+correlation&rft.volume=140A&rft.issue=1&rft.pages=1-7&rft.date=2006-01-01&rft.issn=1552-4825&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A27334655%23id-name%3DS2CID&rft_id=info%3Apmid%2F16329078&rft_id=info%3Adoi%2F10.1002%2Fajmg.a.31047&rft.aulast=Gripp&rft.aufirst=Karen+W.&rft.au=Lin%2C+Angela+E.&rft.au=Stabley%2C+Deborah+L.&rft.au=Nicholson%2C+Linda&rft.au=Scott%2C+Charles+I.&rft.au=Doyle%2C+Daniel&rft.au=Aoki%2C+Yoko&rft.au=Matsubara%2C+Yoichi&rft.au=Zackai%2C+Elaine+H.&rft.au=Lapunzina%2C+Pablo&rft.au=Gonzalez-Meneses%2C+Antonio&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-41"><span class="mw-cite-backlink"><b><a href="#cite_ref-41">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFBertolaPereiraPassettide_Oliveira2005" class="citation journal cs1">Bertola, Debora R.; Pereira, Alexandre C.; Passetti, Fábio; de Oliveira, Paulo S.L.; Messiaen, Ludwine; Gelb, Bruce D.; Kim, Chong A.; Krieger, José Eduardo (2005-07-30). "Neurofibromatosis–Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient". <i>American Journal of Medical Genetics Part A</i>. <b>136A</b> (3): 242–245. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1002%2Fajmg.a.30813">10.1002/ajmg.a.30813</a>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/1552-4825">1552-4825</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/15948193">15948193</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:40235559">40235559</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=American+Journal+of+Medical+Genetics+Part+A&rft.atitle=Neurofibromatosis%E2%80%93Noonan+syndrome%3A+Molecular+evidence+of+the+concurrence+of+both+disorders+in+a+patient&rft.volume=136A&rft.issue=3&rft.pages=242-245&rft.date=2005-07-30&rft.issn=1552-4825&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A40235559%23id-name%3DS2CID&rft_id=info%3Apmid%2F15948193&rft_id=info%3Adoi%2F10.1002%2Fajmg.a.30813&rft.aulast=Bertola&rft.aufirst=Debora+R.&rft.au=Pereira%2C+Alexandre+C.&rft.au=Passetti%2C+F%C3%A1bio&rft.au=de+Oliveira%2C+Paulo+S.L.&rft.au=Messiaen%2C+Ludwine&rft.au=Gelb%2C+Bruce+D.&rft.au=Kim%2C+Chong+A.&rft.au=Krieger%2C+Jos%C3%A9+Eduardo&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-42"><span class="mw-cite-backlink"><b><a href="#cite_ref-42">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFMorris1993" class="citation cs2">Morris, Colleen A. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), <a rel="nofollow" class="external text" href="http://www.ncbi.nlm.nih.gov/books/NBK1249/">"Williams Syndrome"</a>, <i>GeneReviews®</i>, University of Washington, Seattle, <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/20301427">20301427</a><span class="reference-accessdate">, retrieved <span class="nowrap">2019-11-25</span></span></cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=GeneReviews%C2%AE&rft.atitle=Williams+Syndrome&rft.date=1993&rft_id=info%3Apmid%2F20301427&rft.aulast=Morris&rft.aufirst=Colleen+A.&rft_id=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fbooks%2FNBK1249%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-43"><span class="mw-cite-backlink"><b><a href="#cite_ref-43">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://bestpractice.bmj.com/topics/en-gb/1193">"Noonan syndrome - Symptoms, diagnosis and treatment | BMJ Best Practice"</a>. <i>bestpractice.bmj.com</i><span class="reference-accessdate">. Retrieved <span class="nowrap">2019-11-18</span></span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=bestpractice.bmj.com&rft.atitle=Noonan+syndrome+-+Symptoms%2C+diagnosis+and+treatment+%7C+BMJ+Best+Practice&rft_id=https%3A%2F%2Fbestpractice.bmj.com%2Ftopics%2Fen-gb%2F1193&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-44"><span class="mw-cite-backlink"><b><a href="#cite_ref-44">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://www.mhaus.org/healthcare-professionals/mhaus-recommendations/does-noonan-syndrome-increase-malignant-hyperthermia-susceptibility/">"Does Noonan Syndrome Increase Malignant Hyperthermia Susceptibility? - MHAUS"</a>. <i>www.mhaus.org</i><span class="reference-accessdate">. Retrieved <span class="nowrap">2019-11-25</span></span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=www.mhaus.org&rft.atitle=Does+Noonan+Syndrome+Increase+Malignant+Hyperthermia+Susceptibility%3F+-+MHAUS&rft_id=https%3A%2F%2Fwww.mhaus.org%2Fhealthcare-professionals%2Fmhaus-recommendations%2Fdoes-noonan-syndrome-increase-malignant-hyperthermia-susceptibility%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-:12-45"><span class="mw-cite-backlink">^ <a href="#cite_ref-:12_45-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-:12_45-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://www.dynamed.com/condition/noonan-syndrome#GUID-8B6F2CB7-A74F-40D2-987A-20001A0BE2EE">"DynaMed"</a>. <i>www.dynamed.com</i><span class="reference-accessdate">. Retrieved <span class="nowrap">2019-11-11</span></span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=www.dynamed.com&rft.atitle=DynaMed&rft_id=https%3A%2F%2Fwww.dynamed.com%2Fcondition%2Fnoonan-syndrome%23GUID-8B6F2CB7-A74F-40D2-987A-20001A0BE2EE&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-46"><span class="mw-cite-backlink"><b><a href="#cite_ref-46">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFJacqueline_A._Noonan,_Dorothy_A._Ehmke1963" class="citation journal cs1">Jacqueline A. Noonan, Dorothy A. Ehmke (1963). "Associated noncardiac malformations in children with congenital heart disease". <i>Midwest Society for Pediatric Research</i>. <b>63</b>: 468–70.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Midwest+Society+for+Pediatric+Research&rft.atitle=Associated+noncardiac+malformations+in+children+with+congenital+heart+disease.&rft.volume=63&rft.pages=468-70&rft.date=1963&rft.au=Jacqueline+A.+Noonan%2C+Dorothy+A.+Ehmke&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-47"><span class="mw-cite-backlink"><b><a href="#cite_ref-47">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFNoonan1968" class="citation journal cs1">Noonan, Jacqueline A. (1968-10-01). "Hypertelorism With Turner Phenotype: A New Syndrome With Associated Congenital Heart Disease". <i>American Journal of Diseases of Children</i>. <b>116</b> (4): 373–80. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1001%2Farchpedi.1968.02100020377005">10.1001/archpedi.1968.02100020377005</a>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/0002-922X">0002-922X</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/4386970">4386970</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=American+Journal+of+Diseases+of+Children&rft.atitle=Hypertelorism+With+Turner+Phenotype%3A+A+New+Syndrome+With+Associated+Congenital+Heart+Disease&rft.volume=116&rft.issue=4&rft.pages=373-80&rft.date=1968-10-01&rft.issn=0002-922X&rft_id=info%3Apmid%2F4386970&rft_id=info%3Adoi%2F10.1001%2Farchpedi.1968.02100020377005&rft.aulast=Noonan&rft.aufirst=Jacqueline+A.&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANoonan+syndrome" class="Z3988"></span></span> </li> </ol></div></div> <div class="mw-heading mw-heading2"><h2 id="External_links">External links</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Noonan_syndrome&action=edit&section=23" title="Edit section: External links"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1235681985">.mw-parser-output .side-box{margin:4px 0;box-sizing:border-box;border:1px solid #aaa;font-size:88%;line-height:1.25em;background-color:var(--background-color-interactive-subtle,#f8f9fa);display:flow-root}.mw-parser-output .side-box-abovebelow,.mw-parser-output .side-box-text{padding:0.25em 0.9em}.mw-parser-output .side-box-image{padding:2px 0 2px 0.9em;text-align:center}.mw-parser-output .side-box-imageright{padding:2px 0.9em 2px 0;text-align:center}@media(min-width:500px){.mw-parser-output .side-box-flex{display:flex;align-items:center}.mw-parser-output .side-box-text{flex:1;min-width:0}}@media(min-width:720px){.mw-parser-output .side-box{width:238px}.mw-parser-output .side-box-right{clear:right;float:right;margin-left:1em}.mw-parser-output .side-box-left{margin-right:1em}}</style><style data-mw-deduplicate="TemplateStyles:r1237033735">@media print{body.ns-0 .mw-parser-output .sistersitebox{display:none!important}}@media screen{html.skin-theme-clientpref-night .mw-parser-output .sistersitebox img[src*="Wiktionary-logo-en-v2.svg"]{background-color:white}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .sistersitebox img[src*="Wiktionary-logo-en-v2.svg"]{background-color:white}}</style><div class="side-box side-box-right plainlinks sistersitebox"><style data-mw-deduplicate="TemplateStyles:r1126788409">.mw-parser-output .plainlist ol,.mw-parser-output .plainlist ul{line-height:inherit;list-style:none;margin:0;padding:0}.mw-parser-output .plainlist ol li,.mw-parser-output .plainlist ul li{margin-bottom:0}</style> <div class="side-box-flex"> <div class="side-box-image"><span class="noviewer" typeof="mw:File"><span><img alt="" src="//upload.wikimedia.org/wikipedia/en/thumb/4/4a/Commons-logo.svg/30px-Commons-logo.svg.png" decoding="async" width="30" height="40" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/en/thumb/4/4a/Commons-logo.svg/45px-Commons-logo.svg.png 1.5x, //upload.wikimedia.org/wikipedia/en/thumb/4/4a/Commons-logo.svg/59px-Commons-logo.svg.png 2x" data-file-width="1024" data-file-height="1376" /></span></span></div> <div class="side-box-text plainlist">Wikimedia Commons has media related to <span style="font-weight: bold; font-style: italic;"><a href="https://commons.wikimedia.org/wiki/Category:Noonan_syndrome" class="extiw" title="commons:Category:Noonan syndrome">Noonan syndrome</a></span>.</div></div> </div> <div class="navbox-styles"><style data-mw-deduplicate="TemplateStyles:r1236075235">.mw-parser-output .navbox{box-sizing:border-box;border:1px solid #a2a9b1;width:100%;clear:both;font-size:88%;text-align:center;padding:1px;margin:1em auto 0}.mw-parser-output .navbox .navbox{margin-top:0}.mw-parser-output .navbox+.navbox,.mw-parser-output .navbox+.navbox-styles+.navbox{margin-top:-1px}.mw-parser-output .navbox-inner,.mw-parser-output .navbox-subgroup{width:100%}.mw-parser-output .navbox-group,.mw-parser-output .navbox-title,.mw-parser-output .navbox-abovebelow{padding:0.25em 1em;line-height:1.5em;text-align:center}.mw-parser-output .navbox-group{white-space:nowrap;text-align:right}.mw-parser-output .navbox,.mw-parser-output .navbox-subgroup{background-color:#fdfdfd}.mw-parser-output .navbox-list{line-height:1.5em;border-color:#fdfdfd}.mw-parser-output .navbox-list-with-group{text-align:left;border-left-width:2px;border-left-style:solid}.mw-parser-output tr+tr>.navbox-abovebelow,.mw-parser-output tr+tr>.navbox-group,.mw-parser-output tr+tr>.navbox-image,.mw-parser-output tr+tr>.navbox-list{border-top:2px solid #fdfdfd}.mw-parser-output .navbox-title{background-color:#ccf}.mw-parser-output .navbox-abovebelow,.mw-parser-output .navbox-group,.mw-parser-output .navbox-subgroup .navbox-title{background-color:#ddf}.mw-parser-output .navbox-subgroup .navbox-group,.mw-parser-output .navbox-subgroup .navbox-abovebelow{background-color:#e6e6ff}.mw-parser-output .navbox-even{background-color:#f7f7f7}.mw-parser-output .navbox-odd{background-color:transparent}.mw-parser-output .navbox .hlist td dl,.mw-parser-output .navbox .hlist td ol,.mw-parser-output .navbox .hlist td ul,.mw-parser-output .navbox td.hlist dl,.mw-parser-output .navbox td.hlist ol,.mw-parser-output .navbox td.hlist ul{padding:0.125em 0}.mw-parser-output .navbox .navbar{display:block;font-size:100%}.mw-parser-output .navbox-title .navbar{float:left;text-align:left;margin-right:0.5em}body.skin--responsive .mw-parser-output .navbox-image img{max-width:none!important}@media print{body.ns-0 .mw-parser-output .navbox{display:none!important}}</style><style data-mw-deduplicate="TemplateStyles:r1129693374">.mw-parser-output .hlist dl,.mw-parser-output .hlist ol,.mw-parser-output .hlist ul{margin:0;padding:0}.mw-parser-output .hlist dd,.mw-parser-output .hlist dt,.mw-parser-output .hlist li{margin:0;display:inline}.mw-parser-output .hlist.inline,.mw-parser-output .hlist.inline dl,.mw-parser-output .hlist.inline ol,.mw-parser-output .hlist.inline ul,.mw-parser-output .hlist dl dl,.mw-parser-output .hlist dl ol,.mw-parser-output .hlist dl ul,.mw-parser-output .hlist ol dl,.mw-parser-output .hlist ol ol,.mw-parser-output .hlist ol ul,.mw-parser-output .hlist ul dl,.mw-parser-output .hlist ul ol,.mw-parser-output .hlist ul ul{display:inline}.mw-parser-output .hlist .mw-empty-li{display:none}.mw-parser-output .hlist dt::after{content:": "}.mw-parser-output .hlist dd::after,.mw-parser-output .hlist li::after{content:" · ";font-weight:bold}.mw-parser-output .hlist dd:last-child::after,.mw-parser-output .hlist dt:last-child::after,.mw-parser-output .hlist li:last-child::after{content:none}.mw-parser-output .hlist dd dd:first-child::before,.mw-parser-output .hlist dd dt:first-child::before,.mw-parser-output .hlist dd li:first-child::before,.mw-parser-output .hlist dt dd:first-child::before,.mw-parser-output .hlist dt dt:first-child::before,.mw-parser-output .hlist dt li:first-child::before,.mw-parser-output .hlist li dd:first-child::before,.mw-parser-output .hlist li dt:first-child::before,.mw-parser-output .hlist li li:first-child::before{content:" (";font-weight:normal}.mw-parser-output .hlist dd dd:last-child::after,.mw-parser-output .hlist dd dt:last-child::after,.mw-parser-output .hlist dd li:last-child::after,.mw-parser-output .hlist dt dd:last-child::after,.mw-parser-output .hlist dt dt:last-child::after,.mw-parser-output .hlist dt li:last-child::after,.mw-parser-output .hlist li dd:last-child::after,.mw-parser-output .hlist li dt:last-child::after,.mw-parser-output .hlist li li:last-child::after{content:")";font-weight:normal}.mw-parser-output .hlist ol{counter-reset:listitem}.mw-parser-output .hlist ol>li{counter-increment:listitem}.mw-parser-output .hlist ol>li::before{content:" "counter(listitem)"\a0 "}.mw-parser-output .hlist dd ol>li:first-child::before,.mw-parser-output .hlist dt ol>li:first-child::before,.mw-parser-output .hlist li ol>li:first-child::before{content:" ("counter(listitem)"\a0 "}</style><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"></div><div role="navigation" class="navbox" aria-label="Navbox" style="width:100%; margin:0.5em 0 0.5em 0;;padding:3px"><table class="nowraplinks navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">Classification</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"><div style="position:relative; float:right; font-size:0.8em;"><a href="https://www.wikidata.org/wiki/Q1543446" class="extiw" title="d:Q1543446">D</a></div><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/ICD-10" title="ICD-10">10</a></b>: <a rel="nofollow" class="external text" href="https://icd.who.int/browse10/2019/en#/Q87.1">Q87.1</a></li><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/List_of_ICD-9_codes" title="List of ICD-9 codes">9-CM</a></b>: <a rel="nofollow" class="external text" href="http://www.icd9data.com/getICD9Code.ashx?icd9=759.89">759.89</a></li><li><b><a href="/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">OMIM</a></b>: <a rel="nofollow" class="external text" href="https://omim.org/entry/163950">163950</a> <a rel="nofollow" class="external text" href="https://omim.org/entry/605275">605275</a> <a rel="nofollow" class="external text" href="https://omim.org/entry/609942">609942</a> <a rel="nofollow" class="external text" href="https://omim.org/entry/610733">610733</a> <a rel="nofollow" class="external text" href="https://omim.org/entry/611553">611553</a></li><li><b><a href="/wiki/Medical_Subject_Headings" title="Medical Subject Headings">MeSH</a></b>: <a rel="nofollow" class="external text" href="https://meshb.nlm.nih.gov/record/ui?ui=D009634">D009634</a></li><li><b><a href="/wiki/Diseases_Database" title="Diseases Database">DiseasesDB</a></b>: <a rel="nofollow" class="external text" href="http://www.diseasesdatabase.com/ddb29094.htm">29094</a></li><li><b><a href="/wiki/SNOMED_CT" title="SNOMED CT">SNOMED CT</a></b>: <a rel="nofollow" class="external text" href="http://snomed.info/id/205824006">205824006</a></li></ul></div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">External resources</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/MedlinePlus" title="MedlinePlus">MedlinePlus</a></b>: <a rel="nofollow" class="external text" href="https://www.nlm.nih.gov/medlineplus/ency/article/001656.htm">001656</a></li><li><b><a href="/wiki/EMedicine" title="EMedicine">eMedicine</a></b>: <a rel="nofollow" class="external text" href="https://emedicine.medscape.com/article/947504-overview">article/947504</a></li><li><b><a href="/wiki/Patient_UK" title="Patient UK">Patient UK</a></b>: <a rel="nofollow" class="external text" href="https://patient.info/doctor/Noonans-Syndrome">Noonan syndrome</a></li><li><b><a href="/wiki/GeneReviews" title="GeneReviews">GeneReviews</a></b>: <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK1124/">Noonan Syndrome</a></li><li><b><a href="/wiki/Orphanet" title="Orphanet">Orphanet</a></b>: <a rel="nofollow" class="external text" href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648">648</a></li></ul></div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Autism" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><style data-mw-deduplicate="TemplateStyles:r1239400231">.mw-parser-output .navbar{display:inline;font-size:88%;font-weight:normal}.mw-parser-output .navbar-collapse{float:left;text-align:left}.mw-parser-output .navbar-boxtext{word-spacing:0}.mw-parser-output .navbar ul{display:inline-block;white-space:nowrap;line-height:inherit}.mw-parser-output .navbar-brackets::before{margin-right:-0.125em;content:"[ "}.mw-parser-output .navbar-brackets::after{margin-left:-0.125em;content:" ]"}.mw-parser-output .navbar li{word-spacing:-0.125em}.mw-parser-output .navbar a>span,.mw-parser-output .navbar a>abbr{text-decoration:inherit}.mw-parser-output .navbar-mini abbr{font-variant:small-caps;border-bottom:none;text-decoration:none;cursor:inherit}.mw-parser-output .navbar-ct-full{font-size:114%;margin:0 7em}.mw-parser-output .navbar-ct-mini{font-size:114%;margin:0 4em}html.skin-theme-clientpref-night .mw-parser-output .navbar li a abbr{color:var(--color-base)!important}@media(prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .navbar li a abbr{color:var(--color-base)!important}}@media print{.mw-parser-output .navbar{display:none!important}}</style><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Autism" title="Template:Autism"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Autism" title="Template talk:Autism"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Autism" title="Special:EditPage/Template:Autism"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Autism" style="font-size:114%;margin:0 4em"><a href="/wiki/Autism" title="Autism">Autism</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%">Main</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Causes_of_autism" title="Causes of autism">Causes</a></li> <li><a href="/wiki/Diagnosis_of_autism" title="Diagnosis of autism">Diagnosis</a></li> <li><a href="/wiki/Epidemiology_of_autism" title="Epidemiology of autism">Epidemiology</a></li> <li><a href="/wiki/Epigenetics_of_autism" title="Epigenetics of autism">Epigenetics</a></li> <li><a href="/wiki/Heritability_of_autism" title="Heritability of autism">Heritability</a></li> <li><a href="/wiki/History_of_autism" title="History of autism">History</a></li> <li><a href="/wiki/Autism_and_memory" title="Autism and memory">Memory</a></li> <li><a href="/wiki/Pathophysiology_of_autism" class="mw-redirect" title="Pathophysiology of autism">Pathophysiology</a></li> <li><a href="/wiki/Sex_and_gender_differences_in_autism" title="Sex and gender differences in autism">Sex and gender</a></li> <li><a href="/wiki/Societal_and_cultural_aspects_of_autism" title="Societal and cultural aspects of autism">Societal and cultural aspects</a></li> <li><a href="/wiki/Autism_therapies" title="Autism therapies">Therapies</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Diagnoses</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Pervasive_developmental_disorder" title="Pervasive developmental disorder">Pervasive developmental disorder</a> <ul><li><a href="/wiki/Classic_autism" title="Classic autism">Autistic disorder</a></li> <li><a href="/wiki/Asperger_syndrome" title="Asperger syndrome">Asperger syndrome</a></li> <li><a href="/wiki/Pervasive_developmental_disorder_not_otherwise_specified" title="Pervasive developmental disorder not otherwise specified">Pervasive developmental disorder not otherwise specified</a></li> <li><a href="/wiki/Childhood_disintegrative_disorder" title="Childhood disintegrative disorder">Childhood disintegrative disorder</a></li></ul></li> <li><a href="/wiki/High-functioning_autism" title="High-functioning autism">High-functioning autism</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Associated conditions<br />and phenomena</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Alexithymia" title="Alexithymia">Alexithymia</a></li> <li><a href="/wiki/Autism_and_LGBTQ_identities" title="Autism and LGBTQ identities">Autism and LGBTQ identities</a></li> <li><a href="/wiki/Autistic_burnout" title="Autistic burnout">Autistic burnout</a></li> <li><a href="/wiki/Autistic_catatonia" title="Autistic catatonia">Autistic catatonia</a></li> <li><a href="/wiki/Autistic_masking" title="Autistic masking">Autistic masking</a></li> <li><a href="/wiki/Autistic_meltdown" title="Autistic meltdown">Autistic meltdown</a></li> <li><a href="/wiki/Echolalia" title="Echolalia">Echolalia</a></li> <li><a href="/wiki/Echopraxia" title="Echopraxia">Echopraxia</a></li> <li><a href="/wiki/Emotional_dysregulation" title="Emotional dysregulation">Emotional dysregulation</a></li> <li><a href="/wiki/Hyperlexia" title="Hyperlexia">Hyperlexia</a></li> <li><a href="/wiki/Infodumping" title="Infodumping">Infodumping</a></li> <li><a href="/wiki/Late_talker" title="Late talker">Late talker</a></li> <li><a href="/wiki/Monotropism" title="Monotropism">Monotropism</a></li> <li><a href="/wiki/Nonverbal_autism" title="Nonverbal autism">Nonverbal autism</a></li> <li><a href="/wiki/Pathological_demand_avoidance" title="Pathological demand avoidance">Pathological demand avoidance</a></li> <li><a href="/wiki/Pronoun_reversal" title="Pronoun reversal">Pronoun reversal</a></li> <li><a href="/wiki/Savant_syndrome" title="Savant syndrome">Savant syndrome</a></li> <li><a href="/wiki/Special_interest_(autism)" title="Special interest (autism)">Special interests</a></li> <li><a href="/wiki/Stimming" title="Stimming">Stimming</a></li> <li><a href="/wiki/Sensory_overload" title="Sensory overload">Sensory overload</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Conditions_comorbid_to_autism" title="Conditions comorbid to autism">Comorbid conditions</a></th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Avoidant/restrictive_food_intake_disorder" title="Avoidant/restrictive food intake disorder">Avoidant/restrictive food intake disorder</a></li> <li><a href="/wiki/Attention_deficit_hyperactivity_disorder" title="Attention deficit hyperactivity disorder">Attention deficit hyperactivity disorder</a></li> <li><a href="/wiki/Anxiety_disorder" title="Anxiety disorder">Anxiety disorder</a> <ul><li><a href="/wiki/Obsessive%E2%80%93compulsive_disorder" title="Obsessive–compulsive disorder">obsessive–compulsive disorder</a></li></ul></li> <li><a href="/wiki/Developmental_coordination_disorder" title="Developmental coordination disorder">Developmental coordination disorder</a></li> <li><a href="/wiki/Epilepsy" title="Epilepsy">Epilepsy</a></li> <li><a href="/wiki/Intellectual_disability" title="Intellectual disability">Intellectual disability</a></li> <li><a href="/wiki/Sensory_processing_disorder" title="Sensory processing disorder">Sensory processing disorder</a></li> <li><a href="/wiki/Global_developmental_delay" title="Global developmental delay">Global developmental delay</a></li> <li><a href="/wiki/Developmental_verbal_dyspraxia" title="Developmental verbal dyspraxia">Developmental verbal dyspraxia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Syndromic_autism" title="Syndromic autism">Associated syndromes</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/22q13_deletion_syndrome" title="22q13 deletion syndrome">22q13 deletion syndrome</a></li> <li><a href="/wiki/Angelman_syndrome" title="Angelman syndrome">Angelman syndrome</a></li> <li><a href="/wiki/CHARGE_syndrome" title="CHARGE syndrome">CHARGE syndrome</a></li> <li><a href="/wiki/Cohen_syndrome" title="Cohen syndrome">Cohen syndrome</a></li> <li><a href="/wiki/Cornelia_de_Lange_syndrome" title="Cornelia de Lange syndrome">Cornelia de Lange syndrome</a></li> <li><a href="/wiki/DiGeorge_syndrome" title="DiGeorge syndrome">DiGeorge syndrome</a></li> <li><a href="/wiki/Down_syndrome" title="Down syndrome">Down syndrome</a></li> <li><a href="/wiki/Fetal_valproate_spectrum_disorder" title="Fetal valproate spectrum disorder">Fetal valproate spectrum disorder</a></li> <li><a href="/wiki/Fragile_X_syndrome" title="Fragile X syndrome">Fragile X syndrome</a></li> <li><a href="/wiki/MECP2_duplication_syndrome" title="MECP2 duplication syndrome">MECP2 duplication syndrome</a></li> <li><a href="/wiki/Neurofibromatosis_type_I" title="Neurofibromatosis type I">Neurofibromatosis type I</a></li> <li><a class="mw-selflink selflink">Noonan syndrome</a></li> <li><a href="/wiki/Multiple_hamartoma_syndrome" title="Multiple hamartoma syndrome">Multiple hamartoma syndrome</a></li> <li><a href="/wiki/Rett_syndrome" title="Rett syndrome">Rett syndrome</a></li> <li><a href="/wiki/Smith%E2%80%93Lemli%E2%80%93Opitz_syndrome" title="Smith–Lemli–Opitz syndrome">Smith–Lemli–Opitz syndrome</a></li> <li><a href="/wiki/Timothy_syndrome" title="Timothy syndrome">Timothy syndrome</a></li> <li><a href="/wiki/Tuberous_sclerosis" title="Tuberous sclerosis">Tuberous sclerosis</a></li> <li><a href="/wiki/Williams_syndrome" title="Williams syndrome">Williams syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Related issues</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Autism_rights_movement" title="Autism rights movement">Autism rights movement</a></li> <li><a href="/wiki/Critical_autism_studies" title="Critical autism studies">Critical autism studies</a></li> <li><a href="/wiki/Discrimination_against_autistic_people" title="Discrimination against autistic people">Discrimination</a></li> <li><a href="/wiki/Double_empathy_problem" title="Double empathy problem">Double empathy problem</a></li> <li><a href="/wiki/Employment_of_autistic_people" title="Employment of autistic people">Employment</a></li> <li><a href="/wiki/Multiple_complex_developmental_disorder" title="Multiple complex developmental disorder">Multiple complex developmental disorder</a></li> <li><a href="/wiki/Neurodiversity" title="Neurodiversity">Neurodiversity</a></li> <li><a href="/wiki/Treatment_and_Education_of_Autistic_and_Related_Communication_Handicapped_Children" title="Treatment and Education of Autistic and Related Communication Handicapped Children">TEACCH program</a></li> <li><a href="/wiki/Twice_exceptional" title="Twice exceptional">Twice exceptional</a></li> <li><a href="/wiki/Violence_and_autism" title="Violence and autism">Violence and autism</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Controversies_in_autism" title="Controversies in autism">Controversies</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Facilitated_communication" title="Facilitated communication">Facilitated communication</a></li> <li><a href="/wiki/Lancet_MMR_autism_fraud" title="Lancet MMR autism fraud">Lancet MMR autism fraud</a></li> <li><a href="/wiki/MMR_vaccine_and_autism" title="MMR vaccine and autism">MMR vaccine</a></li> <li><a href="/wiki/Rapid_prompting_method" title="Rapid prompting method">Rapid prompting method</a></li> <li><a href="/wiki/Thiomersal_and_vaccines" title="Thiomersal and vaccines">Thiomersal</a> <ul><li><a href="/wiki/Chelation_therapy" title="Chelation therapy">Chelation</a></li></ul></li> <li><a href="/wiki/Combating_Autism_Act" title="Combating Autism Act">Combating Autism Act</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Diagnostic scales</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Autism_Diagnostic_Interview" title="Autism Diagnostic Interview">Autism Diagnostic Interview</a></li> <li><a href="/wiki/Autism_Diagnostic_Observation_Schedule" title="Autism Diagnostic Observation Schedule">Autism Diagnostic Observation Schedule</a></li> <li><a href="/wiki/Childhood_Autism_Rating_Scale" title="Childhood Autism Rating Scale">Childhood Autism Rating Scale</a></li> <li><a href="/wiki/Gilliam_Asperger%27s_disorder_scale" title="Gilliam Asperger's disorder scale">Gilliam Asperger's disorder scale</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Screening scales</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Autism-spectrum_quotient" title="Autism-spectrum quotient">Autism-spectrum quotient</a></li> <li><a href="/wiki/Childhood_Autism_Spectrum_Test" title="Childhood Autism Spectrum Test">Childhood Autism Spectrum Test</a></li> <li><a href="/wiki/Ritvo_Autism_and_Asperger_Diagnostic_Scale" title="Ritvo Autism and Asperger Diagnostic Scale">Ritvo Autism and Asperger Diagnostic Scale</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Lists</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Outline_of_autism" title="Outline of autism">Autism-related topics</a></li> <li><a href="/wiki/List_of_autistic_fictional_characters" title="List of autistic fictional characters">Fictional characters</a></li> <li><a href="/wiki/List_of_schools_for_people_on_the_autism_spectrum" title="List of schools for people on the autism spectrum">Schools</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Accommodations</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Autism-friendly" title="Autism-friendly">Autism-friendly</a></li> <li><a href="/wiki/Sensory_friendly" title="Sensory friendly">Sensory friendly</a></li></ul> </div></td></tr><tr><td class="navbox-abovebelow hlist" colspan="2"><div> <ul><li><span class="noviewer" typeof="mw:File"><span title="Category"><img alt="" src="//upload.wikimedia.org/wikipedia/en/thumb/9/96/Symbol_category_class.svg/16px-Symbol_category_class.svg.png" decoding="async" width="16" height="16" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/en/thumb/9/96/Symbol_category_class.svg/23px-Symbol_category_class.svg.png 1.5x, //upload.wikimedia.org/wikipedia/en/thumb/9/96/Symbol_category_class.svg/31px-Symbol_category_class.svg.png 2x" data-file-width="180" data-file-height="185" /></span></span> <a href="/wiki/Category:Autism" title="Category:Autism">Category</a></li></ul> </div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Congenital_abnormality_syndromes" style="padding:3px"><table class="nowraplinks hlist mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Congenital_abnormality_syndromes" title="Template:Congenital abnormality syndromes"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Congenital_abnormality_syndromes" title="Template talk:Congenital abnormality syndromes"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Congenital_abnormality_syndromes" title="Special:EditPage/Template:Congenital abnormality syndromes"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Congenital_abnormality_syndromes" style="font-size:114%;margin:0 4em"><a href="/wiki/Congenital_abnormality" class="mw-redirect" title="Congenital abnormality">Congenital abnormality</a> syndromes</div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Craniofacial_abnormality" title="Craniofacial abnormality">Craniofacial</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Acrocephalosyndactyly" title="Acrocephalosyndactyly">Acrocephalosyndactyly</a> <ul><li><a href="/wiki/Apert_syndrome" title="Apert syndrome">Apert syndrome</a></li> <li><a href="/wiki/Carpenter_syndrome" title="Carpenter syndrome">Carpenter syndrome</a></li> <li><a href="/wiki/Pfeiffer_syndrome" title="Pfeiffer syndrome">Pfeiffer syndrome</a></li> <li><a href="/wiki/Saethre%E2%80%93Chotzen_syndrome" title="Saethre–Chotzen syndrome">Saethre–Chotzen syndrome</a></li> <li><a href="/wiki/Sakati%E2%80%93Nyhan%E2%80%93Tisdale_syndrome" title="Sakati–Nyhan–Tisdale syndrome">Sakati–Nyhan–Tisdale syndrome</a></li> <li><a href="/wiki/Bonnet%E2%80%93Dechaume%E2%80%93Blanc_syndrome" title="Bonnet–Dechaume–Blanc syndrome">Bonnet–Dechaume–Blanc syndrome</a></li></ul></li> <li>Other <ul><li><a href="/wiki/Baller%E2%80%93Gerold_syndrome" title="Baller–Gerold syndrome">Baller–Gerold syndrome</a></li> <li><a href="/wiki/Cyclopia" title="Cyclopia">Cyclopia</a></li> <li><a href="/wiki/Goldenhar_syndrome" title="Goldenhar syndrome">Goldenhar syndrome</a></li> <li><a href="/wiki/Moebius_syndrome" title="Moebius syndrome">Moebius syndrome</a></li> <li><a href="/wiki/Pierre_Robin_sequence" title="Pierre Robin sequence">Pierre Robin sequence</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Short_stature" title="Short stature">Short stature</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/1q21.1_deletion_syndrome" title="1q21.1 deletion syndrome">1q21.1 deletion syndrome</a></li> <li><a href="/wiki/Aarskog%E2%80%93Scott_syndrome" title="Aarskog–Scott syndrome">Aarskog–Scott syndrome</a></li> <li><a href="/wiki/Cockayne_syndrome" title="Cockayne syndrome">Cockayne syndrome</a></li> <li><a href="/wiki/Cornelia_de_Lange_syndrome" title="Cornelia de Lange syndrome">Cornelia de Lange syndrome</a></li> <li><a href="/wiki/Dubowitz_syndrome" title="Dubowitz syndrome">Dubowitz syndrome</a></li> <li><a class="mw-selflink selflink">Noonan syndrome</a></li> <li><a href="/wiki/Robinow_syndrome" title="Robinow syndrome">Robinow syndrome</a></li> <li><a href="/wiki/Silver%E2%80%93Russell_syndrome" title="Silver–Russell syndrome">Silver–Russell syndrome</a></li> <li><a href="/wiki/Seckel_syndrome" title="Seckel syndrome">Seckel syndrome</a></li> <li><a href="/wiki/Smith%E2%80%93Lemli%E2%80%93Opitz_syndrome" title="Smith–Lemli–Opitz syndrome">Smith–Lemli–Opitz syndrome</a></li> <li><a href="/wiki/Snyder%E2%80%93Robinson_syndrome" title="Snyder–Robinson syndrome">Snyder–Robinson syndrome</a></li> <li><a href="/wiki/Turner_syndrome" title="Turner syndrome">Turner syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Congenital_limb_deformities" title="Congenital limb deformities">Limbs</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Adducted_thumb_syndrome" title="Adducted thumb syndrome">Adducted thumb syndrome</a></li> <li><a href="/wiki/Holt%E2%80%93Oram_syndrome" title="Holt–Oram syndrome">Holt–Oram syndrome</a></li> <li><a href="/wiki/Klippel%E2%80%93Tr%C3%A9naunay_syndrome" title="Klippel–Trénaunay syndrome">Klippel–Trénaunay syndrome</a></li> <li><a href="/wiki/Nail%E2%80%93patella_syndrome" title="Nail–patella syndrome">Nail–patella syndrome</a></li> <li><a href="/wiki/Rubinstein%E2%80%93Taybi_syndrome" title="Rubinstein–Taybi syndrome">Rubinstein–Taybi syndrome</a></li> <li><a href="/wiki/Gastrulation" title="Gastrulation">Gastrulation</a>/<a href="/wiki/Mesoderm" title="Mesoderm">mesoderm</a>: <ul><li><a href="/wiki/Caudal_regression_syndrome" title="Caudal regression syndrome">Caudal regression syndrome</a></li> <li><a href="/wiki/Ectromelia" title="Ectromelia">Ectromelia</a></li> <li><a href="/wiki/Sirenomelia" title="Sirenomelia">Sirenomelia</a></li> <li><a href="/wiki/VACTERL_association" title="VACTERL association">VACTERL association</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Overgrowth_syndrome" title="Overgrowth syndrome">Overgrowth syndromes</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Bannayan%E2%80%93Riley%E2%80%93Ruvalcaba_syndrome" title="Bannayan–Riley–Ruvalcaba syndrome">Bannayan–Riley–Ruvalcaba syndrome</a></li> <li><a href="/wiki/Beckwith%E2%80%93Wiedemann_syndrome" title="Beckwith–Wiedemann syndrome">Beckwith–Wiedemann syndrome</a></li> <li><a href="/wiki/Benign_symmetric_lipomatosis" title="Benign symmetric lipomatosis">Benign symmetric lipomatosis</a></li> <li><a href="/wiki/Klippel%E2%80%93Tr%C3%A9naunay_syndrome" title="Klippel–Trénaunay syndrome">Klippel–Trénaunay syndrome</a></li> <li><a href="/wiki/Neurofibromatosis_type_I" title="Neurofibromatosis type I">Neurofibromatosis type I</a></li> <li><a href="/wiki/Perlman_syndrome" title="Perlman syndrome">Perlman syndrome</a></li> <li><a href="/wiki/Proteus_syndrome" title="Proteus syndrome">Proteus syndrome</a></li> <li><a href="/wiki/Sotos_syndrome" title="Sotos syndrome">Sotos syndrome</a></li> <li><a href="/wiki/Tatton-Brown%E2%80%93Rahman_syndrome" title="Tatton-Brown–Rahman syndrome">Tatton-Brown–Rahman syndrome</a></li> <li><a href="/wiki/Weaver_syndrome" title="Weaver syndrome">Weaver syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Laurence–Moon–Bardet–Biedl</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Bardet%E2%80%93Biedl_syndrome" title="Bardet–Biedl syndrome">Bardet–Biedl syndrome</a></li> <li><a href="/wiki/Laurence%E2%80%93Moon_syndrome" title="Laurence–Moon syndrome">Laurence–Moon syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Combined/other,<br />known locus</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Chromosome_2_(human)" class="mw-redirect" title="Chromosome 2 (human)">2</a></i> (<a href="/wiki/Feingold_syndrome" title="Feingold syndrome">Feingold syndrome</a>)</li> <li><i><a href="/wiki/Chromosome_3_(human)" class="mw-redirect" title="Chromosome 3 (human)">3</a></i> (<a href="/wiki/Zimmermann%E2%80%93Laband_syndrome" title="Zimmermann–Laband syndrome">Zimmermann–Laband syndrome</a>)</li> <li><i><a href="/wiki/Chromosome_4_(human)" class="mw-redirect" title="Chromosome 4 (human)">4</a>/<a href="/wiki/Chromosome_13_(human)" class="mw-redirect" title="Chromosome 13 (human)">13</a></i> (<a href="/wiki/Fraser_syndrome" title="Fraser syndrome">Fraser syndrome</a>)</li> <li><i><a href="/wiki/Chromosome_8_(human)" class="mw-redirect" title="Chromosome 8 (human)">8</a></i> (<a href="/wiki/Branchio-oto-renal_syndrome" title="Branchio-oto-renal syndrome">Branchio-oto-renal syndrome</a>, <a href="/wiki/CHARGE_syndrome" title="CHARGE syndrome">CHARGE syndrome</a>)</li> <li><i><a href="/wiki/Chromosome_12_(human)" class="mw-redirect" title="Chromosome 12 (human)">12</a></i> (<a href="/wiki/Keutel_syndrome" title="Keutel syndrome">Keutel syndrome</a>, <a href="/wiki/Timothy_syndrome" title="Timothy syndrome">Timothy syndrome</a>)</li> <li><i><a href="/wiki/Chromosome_15_(human)" class="mw-redirect" title="Chromosome 15 (human)">15</a></i> (<a href="/wiki/Marfan_syndrome" title="Marfan syndrome">Marfan syndrome</a>)</li> <li><i><a href="/wiki/Chromosome_19_(human)" class="mw-redirect" title="Chromosome 19 (human)">19</a></i> (<a href="/wiki/Donohue_syndrome" title="Donohue syndrome">Donohue syndrome</a>)</li> <li>Multiple <ul><li><a href="/wiki/Fryns_syndrome" title="Fryns syndrome">Fryns syndrome</a></li></ul></li></ul> </div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Deficiencies_of_intracellular_signaling_peptides_and_proteins" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Deficiencies_of_intracellular_signaling_peptides_and_proteins" title="Template:Deficiencies of intracellular signaling peptides and proteins"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Deficiencies_of_intracellular_signaling_peptides_and_proteins" title="Template talk:Deficiencies of intracellular signaling peptides and proteins"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Deficiencies_of_intracellular_signaling_peptides_and_proteins" title="Special:EditPage/Template:Deficiencies of intracellular signaling peptides and proteins"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Deficiencies_of_intracellular_signaling_peptides_and_proteins" style="font-size:114%;margin:0 4em">Deficiencies of intracellular signaling peptides and proteins</div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/GTP-binding_protein_regulators" title="GTP-binding protein regulators">GTP-binding protein regulators</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/GTPase-activating_protein" title="GTPase-activating protein">GTPase-activating protein</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Neurofibromatosis_type_I" title="Neurofibromatosis type I">Neurofibromatosis type I</a></li> <li><a href="/wiki/Watson_syndrome" title="Watson syndrome">Watson syndrome</a></li> <li><a href="/wiki/Tuberous_sclerosis" title="Tuberous sclerosis">Tuberous sclerosis</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Guanine_nucleotide_exchange_factor" title="Guanine nucleotide exchange factor">Guanine nucleotide<br />exchange factor</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Marinesco%E2%80%93Sj%C3%B6gren_syndrome" title="Marinesco–Sjögren syndrome">Marinesco–Sjögren syndrome</a></li> <li><a href="/wiki/Aarskog%E2%80%93Scott_syndrome" title="Aarskog–Scott syndrome">Aarskog–Scott syndrome</a></li> <li><a href="/wiki/Juvenile_primary_lateral_sclerosis" title="Juvenile primary lateral sclerosis">Juvenile primary lateral sclerosis</a></li> <li><a href="/wiki/X-linked_intellectual_disability" title="X-linked intellectual disability">X-linked intellectual disability 1</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/G_protein" title="G protein">G protein</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Heterotrimeric_G_protein" title="Heterotrimeric G protein">Heterotrimeic</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/CAMP-dependent_pathway" title="CAMP-dependent pathway">cAMP</a>/<a href="/wiki/GNAS_complex_locus" title="GNAS complex locus">GNAS1</a>: <a href="/wiki/Pseudopseudohypoparathyroidism" title="Pseudopseudohypoparathyroidism">Pseudopseudohypoparathyroidism</a></li> <li><a href="/wiki/Progressive_osseous_heteroplasia" title="Progressive osseous heteroplasia">Progressive osseous heteroplasia</a></li> <li><a href="/wiki/Pseudohypoparathyroidism" title="Pseudohypoparathyroidism">Pseudohypoparathyroidism</a></li> <li><a href="/wiki/Albright%27s_hereditary_osteodystrophy" title="Albright's hereditary osteodystrophy">Albright's hereditary osteodystrophy</a></li> <li><a href="/wiki/McCune%E2%80%93Albright_syndrome" title="McCune–Albright syndrome">McCune–Albright syndrome</a></li> <li><a href="/wiki/Congenital_generalized_lipodystrophy" title="Congenital generalized lipodystrophy">CGL 2</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Small_GTPase" title="Small GTPase">Monomeric</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li>RAS: <i><a href="/wiki/HRAS" title="HRAS">HRAS</a></i> <ul><li><a href="/wiki/Costello_syndrome" title="Costello syndrome">Costello syndrome</a></li></ul></li> <li><i><a href="/wiki/KRAS" title="KRAS">KRAS</a></i> <ul><li><a class="mw-selflink selflink">Noonan syndrome 3</a></li> <li><a href="/wiki/Cardiofaciocutaneous_syndrome" title="Cardiofaciocutaneous syndrome">KRAS Cardiofaciocutaneous syndrome</a></li></ul></li></ul> <ul><li>RAB: <i><a href="/wiki/RAB7A" title="RAB7A">RAB7</a></i> <ul><li><a href="/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease" title="Charcot–Marie–Tooth disease">Charcot–Marie–Tooth disease</a></li></ul></li> <li><i><a href="/wiki/RAB23" title="RAB23">RAB23</a></i> <ul><li><a href="/wiki/Carpenter_syndrome" title="Carpenter syndrome">Carpenter syndrome</a></li></ul></li> <li><i><a href="/wiki/RAB27" title="RAB27">RAB27</a></i> <ul><li><a href="/wiki/Griscelli_syndrome_type_2" title="Griscelli syndrome type 2">Griscelli syndrome type 2</a></li></ul></li></ul> <ul><li>RHO: <i><a href="/wiki/RAC2" title="RAC2">RAC2</a></i> <ul><li><a href="/wiki/Neutrophil_immunodeficiency_syndrome" title="Neutrophil immunodeficiency syndrome">Neutrophil immunodeficiency syndrome</a></li></ul></li></ul> <ul><li><a href="/wiki/ADP_ribosylation_factor" title="ADP ribosylation factor">ARF</a>: <i><a href="/wiki/SAR1B" class="mw-redirect" title="SAR1B">SAR1B</a></i> <ul><li><a href="/wiki/Chylomicron_retention_disease" title="Chylomicron retention disease">Chylomicron retention disease</a></li></ul></li> <li><i><a href="/wiki/ARL13B" title="ARL13B">ARL13B</a></i> <ul><li><a href="/wiki/Joubert_syndrome" title="Joubert syndrome">Joubert syndrome 8</a></li></ul></li> <li><i><a href="/wiki/ARL6" title="ARL6">ARL6</a></i> <ul><li><a href="/wiki/Bardet%E2%80%93Biedl_syndrome" title="Bardet–Biedl syndrome">Bardet–Biedl syndrome 3</a></li></ul></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Mitogen-activated_protein_kinase" title="Mitogen-activated protein kinase">MAP kinase</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Cardiofaciocutaneous_syndrome" title="Cardiofaciocutaneous syndrome">Cardiofaciocutaneous syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other <a href="/wiki/Kinase" title="Kinase">kinase</a>/<a href="/wiki/Phosphatase" title="Phosphatase">phosphatase</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Non-receptor_tyrosine_kinase" title="Non-receptor tyrosine kinase">Tyrosine kinase</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Bruton%27s_tyrosine_kinase" title="Bruton's tyrosine kinase">BTK</a></i> <ul><li><a href="/wiki/X-linked_agammaglobulinemia" title="X-linked agammaglobulinemia">X-linked agammaglobulinemia</a></li></ul></li> <li><i><a href="/wiki/ZAP70" title="ZAP70">ZAP70</a></i> <ul><li><a href="/wiki/ZAP70_deficiency" title="ZAP70 deficiency">ZAP70 deficiency</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Serine/threonine-specific_protein_kinase" title="Serine/threonine-specific protein kinase">Serine/threonine<br />kinase</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/RPS6KA3" title="RPS6KA3">RPS6KA3</a></i> <ul><li><a href="/wiki/Coffin%E2%80%93Lowry_syndrome" title="Coffin–Lowry syndrome">Coffin-Lowry syndrome</a></li></ul></li> <li><i><a href="/wiki/CHEK2" title="CHEK2">CHEK2</a></i> <ul><li><a href="/wiki/Li%E2%80%93Fraumeni_syndrome" title="Li–Fraumeni syndrome">Li–Fraumeni syndrome 2</a></li></ul></li> <li><i><a href="/wiki/IKBKG" title="IKBKG">IKBKG</a></i> <ul><li><a href="/wiki/Incontinentia_pigmenti" title="Incontinentia pigmenti">Incontinentia pigmenti</a></li></ul></li> <li><i><a href="/wiki/STK11" title="STK11">STK11</a></i> <ul><li><a href="/wiki/Peutz%E2%80%93Jeghers_syndrome" title="Peutz–Jeghers syndrome">Peutz–Jeghers syndrome</a></li></ul></li> <li><a href="/wiki/Myotonin-protein_kinase" title="Myotonin-protein kinase">DMPK</a> <ul><li><a href="/wiki/Myotonic_dystrophy" title="Myotonic dystrophy">Myotonic dystrophy 1</a></li></ul></li> <li><i><a href="/wiki/Ataxia_telangiectasia_and_Rad3_related" title="Ataxia telangiectasia and Rad3 related">ATR</a></i> <ul><li><a href="/wiki/Seckel_syndrome" title="Seckel syndrome">Seckel syndrome 1</a></li></ul></li> <li><i><a href="/wiki/Rhodopsin_kinase" title="Rhodopsin kinase">GRK1</a></i> <ul><li><a href="/wiki/Oguchi_disease" title="Oguchi disease">Oguchi disease 2</a></li></ul></li> <li><i><a href="/wiki/WNK4" title="WNK4">WNK4</a></i>/<i><a href="/wiki/WNK1" title="WNK1">WNK1</a></i> <ul><li><a href="/wiki/Pseudohypoaldosteronism" title="Pseudohypoaldosteronism">Pseudohypoaldosteronism 2</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Protein_tyrosine_phosphatase" title="Protein tyrosine phosphatase">Tyrosine<br /> phosphatase</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/PTEN_(gene)" title="PTEN (gene)">PTEN</a></i> <ul><li><a href="/wiki/Bannayan%E2%80%93Riley%E2%80%93Ruvalcaba_syndrome" title="Bannayan–Riley–Ruvalcaba syndrome">Bannayan–Riley–Ruvalcaba syndrome</a></li> <li><a href="/wiki/Lhermitte%E2%80%93Duclos_disease" title="Lhermitte–Duclos disease">Lhermitte–Duclos disease</a></li> <li><a href="/wiki/Cowden_syndrome" title="Cowden syndrome">Cowden syndrome</a></li> <li><a href="/wiki/Proteus-like_syndrome" title="Proteus-like syndrome">Proteus-like syndrome</a></li></ul></li> <li><i><a href="/wiki/Myotubularin_1" title="Myotubularin 1">MTM1</a></i> <ul><li><a href="/wiki/X-linked_myotubular_myopathy" title="X-linked myotubular myopathy">X-linked myotubular myopathy</a></li></ul></li> <li><i><a href="/wiki/PTPN11" title="PTPN11">PTPN11</a></i> <ul><li><a class="mw-selflink selflink">Noonan syndrome 1</a></li> <li><a href="/wiki/LEOPARD_syndrome" class="mw-redirect" title="LEOPARD syndrome">LEOPARD syndrome</a></li> <li><a href="/wiki/Metachondromatosis" title="Metachondromatosis">Metachondromatosis</a></li></ul></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Signal_transducing_adaptor_protein" title="Signal transducing adaptor protein">Signal transducing adaptor proteins</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/EDARADD" title="EDARADD">EDARADD</a></i> <ul><li><a href="/wiki/Hypohidrotic_ectodermal_dysplasia" title="Hypohidrotic ectodermal dysplasia">EDARADD Hypohidrotic ectodermal dysplasia</a></li></ul></li> <li><i><a href="/wiki/SH3BP2" title="SH3BP2">SH3BP2</a></i> <ul><li><a href="/wiki/Cherubism" title="Cherubism">Cherubism</a></li></ul></li> <li><i><a href="/wiki/LDB3" title="LDB3">LDB3</a></i> <ul><li><a href="/wiki/Zaspopathy" title="Zaspopathy">Zaspopathy</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Merlin_(protein)" title="Merlin (protein)">NF2</a></i> <ul><li><a href="/wiki/Neurofibromatosis_type_II" title="Neurofibromatosis type II">Neurofibromatosis type II</a></li></ul></li> <li><i><a href="/wiki/Notch_3" class="mw-redirect" title="Notch 3">Notch 3</a></i> <ul><li><a href="/wiki/CADASIL" title="CADASIL">CADASIL</a></li></ul></li> <li><i><a href="/wiki/PRKAR1A" title="PRKAR1A">PRKAR1A</a></i> <ul><li><a href="/wiki/Carney_complex" title="Carney complex">Carney complex</a></li></ul></li> <li><i><a href="/wiki/PRKAG2" title="PRKAG2">PRKAG2</a></i> <ul><li><a href="/wiki/Wolff%E2%80%93Parkinson%E2%80%93White_syndrome" title="Wolff–Parkinson–White syndrome">Wolff–Parkinson–White syndrome</a></li></ul></li> <li><i><a href="/wiki/PRKCSH" title="PRKCSH">PRKCSH</a></i> <ul><li><a href="/wiki/Polycystic_liver_disease" title="Polycystic liver disease">PRKCSH Polycystic liver disease</a></li></ul></li> <li><i><a href="/wiki/XIAP" title="XIAP">XIAP</a></i> <ul><li><a href="/wiki/X-linked_lymphoproliferative_disease" title="X-linked lymphoproliferative disease">XIAP2</a></li></ul></li></ul> </div></td></tr><tr><td class="navbox-abovebelow" colspan="2"><div><i>See also <a href="/wiki/Template:Intracellular_signaling_peptides_and_proteins" title="Template:Intracellular signaling peptides and proteins">intracellular signaling peptides and proteins</a></i></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox authority-control" aria-label="Navbox" style="padding:3px"><table class="nowraplinks hlist navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Help:Authority_control" title="Help:Authority control">Authority control databases</a>: National <span class="mw-valign-text-top noprint" typeof="mw:File/Frameless"><a href="https://www.wikidata.org/wiki/Q1543446#identifiers" title="Edit this at Wikidata"><img alt="Edit this at Wikidata" src="//upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/10px-OOjs_UI_icon_edit-ltr-progressive.svg.png" decoding="async" width="10" height="10" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/15px-OOjs_UI_icon_edit-ltr-progressive.svg.png 1.5x, //upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/20px-OOjs_UI_icon_edit-ltr-progressive.svg.png 2x" data-file-width="20" data-file-height="20" /></a></span></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"><ul><li><span class="uid"><a rel="nofollow" class="external text" href="https://d-nb.info/gnd/4171991-8">Germany</a></span></li></ul></div></td></tr></tbody></table></div>    </div><noscript><img src="https://login.wikimedia.org/wiki/Special:CentralAutoLogin/start?type=1x1" alt="" width="1" height="1" style="border: none; position: absolute;"></noscript> <div class="printfooter" data-nosnippet="">Retrieved from "<a dir="ltr" href="https://en.wikipedia.org/w/index.php?title=Noonan_syndrome&oldid=1245618416">https://en.wikipedia.org/w/index.php?title=Noonan_syndrome&oldid=1245618416</a>"</div></div> <div id="catlinks" class="catlinks" data-mw="interface"><div id="mw-normal-catlinks" class="mw-normal-catlinks"><a href="/wiki/Help:Category" title="Help:Category">Categories</a>: <ul><li><a href="/wiki/Category:Autosomal_dominant_disorders" title="Category:Autosomal dominant disorders">Autosomal dominant disorders</a></li><li><a href="/wiki/Category:Syndromes_affecting_the_heart" title="Category:Syndromes affecting the heart">Syndromes affecting the heart</a></li><li><a href="/wiki/Category:Genodermatoses" title="Category:Genodermatoses">Genodermatoses</a></li><li><a href="/wiki/Category:Enzyme_defects" title="Category:Enzyme defects">Enzyme defects</a></li><li><a href="/wiki/Category:RASopathies" title="Category:RASopathies">RASopathies</a></li><li><a href="/wiki/Category:Congenital_heart_defects" title="Category:Congenital heart defects">Congenital heart defects</a></li><li><a href="/wiki/Category:Syndromes_affecting_stature" title="Category:Syndromes affecting stature">Syndromes affecting stature</a></li><li><a href="/wiki/Category:Syndromic_autism" title="Category:Syndromic autism">Syndromic autism</a></li><li><a href="/wiki/Category:Diseases_named_after_discoverers" title="Category:Diseases named after discoverers">Diseases named after discoverers</a></li><li><a href="/wiki/Category:Audiology" title="Category:Audiology">Audiology</a></li></ul></div><div id="mw-hidden-catlinks" class="mw-hidden-catlinks mw-hidden-cats-hidden">Hidden categories: <ul><li><a href="/wiki/Category:Articles_with_short_description" title="Category:Articles with short description">Articles with short description</a></li><li><a href="/wiki/Category:Short_description_is_different_from_Wikidata" title="Category:Short description is different from Wikidata">Short description is different from Wikidata</a></li><li><a href="/wiki/Category:Articles_needing_additional_references_from_August_2021" title="Category:Articles needing additional references from August 2021">Articles needing additional references from August 2021</a></li><li><a href="/wiki/Category:All_articles_needing_additional_references" title="Category:All articles needing additional references">All articles needing additional references</a></li><li><a href="/wiki/Category:Commons_category_link_is_on_Wikidata" title="Category:Commons category link is on Wikidata">Commons category link is on Wikidata</a></li><li><a href="/wiki/Category:Wikipedia_medicine_articles_ready_to_translate" title="Category:Wikipedia medicine articles ready to translate">Wikipedia medicine articles ready to translate</a></li></ul></div></div> </div> </main> </div> <div class="mw-footer-container"> <footer id="footer" class="mw-footer" > <ul id="footer-info"> <li id="footer-info-lastmod"> This page was last edited on 14 September 2024, at 02:06<span class="anonymous-show"> (UTC)</span>.</li> <li id="footer-info-copyright">Text is available under the <a href="/wiki/Wikipedia:Text_of_the_Creative_Commons_Attribution-ShareAlike_4.0_International_License" title="Wikipedia:Text of the Creative Commons Attribution-ShareAlike 4.0 International License">Creative Commons Attribution-ShareAlike 4.0 License</a>; additional terms may apply. By using this site, you agree to the <a href="https://foundation.wikimedia.org/wiki/Special:MyLanguage/Policy:Terms_of_Use" class="extiw" title="foundation:Special:MyLanguage/Policy:Terms of Use">Terms of Use</a> and <a href="https://foundation.wikimedia.org/wiki/Special:MyLanguage/Policy:Privacy_policy" class="extiw" title="foundation:Special:MyLanguage/Policy:Privacy policy">Privacy Policy</a>. Wikipedia® is a registered trademark of the <a rel="nofollow" class="external text" href="https://wikimediafoundation.org/">Wikimedia Foundation, Inc.</a>, a non-profit organization.</li> </ul> <ul id="footer-places"> <li id="footer-places-privacy"><a href="https://foundation.wikimedia.org/wiki/Special:MyLanguage/Policy:Privacy_policy">Privacy policy</a></li> <li id="footer-places-about"><a href="/wiki/Wikipedia:About">About Wikipedia</a></li> <li id="footer-places-disclaimers"><a href="/wiki/Wikipedia:General_disclaimer">Disclaimers</a></li> <li id="footer-places-contact"><a href="//en.wikipedia.org/wiki/Wikipedia:Contact_us">Contact Wikipedia</a></li> <li id="footer-places-wm-codeofconduct"><a href="https://foundation.wikimedia.org/wiki/Special:MyLanguage/Policy:Universal_Code_of_Conduct">Code of Conduct</a></li> <li id="footer-places-developers"><a href="https://developer.wikimedia.org">Developers</a></li> <li id="footer-places-statslink"><a href="https://stats.wikimedia.org/#/en.wikipedia.org">Statistics</a></li> <li id="footer-places-cookiestatement"><a href="https://foundation.wikimedia.org/wiki/Special:MyLanguage/Policy:Cookie_statement">Cookie statement</a></li> <li id="footer-places-mobileview"><a href="//en.m.wikipedia.org/w/index.php?title=Noonan_syndrome&mobileaction=toggle_view_mobile" class="noprint stopMobileRedirectToggle">Mobile view</a></li> </ul> <ul id="footer-icons" class="noprint"> <li id="footer-copyrightico"><a href="https://wikimediafoundation.org/" class="cdx-button cdx-button--fake-button cdx-button--size-large cdx-button--fake-button--enabled"><img src="/static/images/footer/wikimedia-button.svg" width="84" height="29" alt="Wikimedia Foundation" loading="lazy"></a></li> <li id="footer-poweredbyico"><a href="https://www.mediawiki.org/" class="cdx-button cdx-button--fake-button cdx-button--size-large cdx-button--fake-button--enabled"><img src="/w/resources/assets/poweredby_mediawiki.svg" alt="Powered by MediaWiki" width="88" height="31" loading="lazy"></a></li> </ul> </footer> </div> </div> </div> <div class="vector-settings" id="p-dock-bottom"> <ul></ul> </div><script>(RLQ=window.RLQ||[]).push(function(){mw.config.set({"wgHostname":"mw-web.codfw.main-f69cdc8f6-zcwrk","wgBackendResponseTime":152,"wgPageParseReport":{"limitreport":{"cputime":"0.971","walltime":"1.172","ppvisitednodes":{"value":5100,"limit":1000000},"postexpandincludesize":{"value":227375,"limit":2097152},"templateargumentsize":{"value":3946,"limit":2097152},"expansiondepth":{"value":13,"limit":100},"expensivefunctioncount":{"value":2,"limit":500},"unstrip-depth":{"value":1,"limit":20},"unstrip-size":{"value":241597,"limit":5000000},"entityaccesscount":{"value":1,"limit":400},"timingprofile":["100.00% 977.350 1 -total"," 46.41% 453.615 1 Template:Reflist"," 26.68% 260.773 36 Template:Cite_journal"," 15.14% 147.959 7 Template:Navbox"," 11.65% 113.895 8 Template:Cite_web"," 10.72% 104.813 1 Template:Medical_resources"," 9.04% 88.393 1 Template:More_citations_needed"," 8.73% 85.277 2 Template:Short_description"," 8.49% 82.934 1 Template:Ambox"," 7.82% 76.404 1 Template:Infobox_medical_condition"]},"scribunto":{"limitreport-timeusage":{"value":"0.602","limit":"10.000"},"limitreport-memusage":{"value":7331440,"limit":52428800}},"cachereport":{"origin":"mw-web.codfw.main-f69cdc8f6-pzjbs","timestamp":"20241123170858","ttl":2592000,"transientcontent":false}}});});</script> <script type="application/ld+json">{"@context":"https:\/\/schema.org","@type":"Article","name":"Noonan syndrome","url":"https:\/\/en.wikipedia.org\/wiki\/Noonan_syndrome","sameAs":"http:\/\/www.wikidata.org\/entity\/Q1543446","mainEntity":"http:\/\/www.wikidata.org\/entity\/Q1543446","author":{"@type":"Organization","name":"Contributors to Wikimedia projects"},"publisher":{"@type":"Organization","name":"Wikimedia Foundation, Inc.","logo":{"@type":"ImageObject","url":"https:\/\/www.wikimedia.org\/static\/images\/wmf-hor-googpub.png"}},"datePublished":"2004-09-15T18:24:13Z","dateModified":"2024-09-14T02:06:52Z","image":"https:\/\/upload.wikimedia.org\/wikipedia\/commons\/6\/69\/Noonan_syndrome.PNG","headline":"human disease"}</script> </body> </html>