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mw-first-heading"><span class="mw-page-title-main">CHARGE 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. 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mw-list-item"><a href="https://da.wikipedia.org/wiki/CHARGE_syndrom" title="CHARGE syndrom – Danish" lang="da" hreflang="da" data-title="CHARGE syndrom" data-language-autonym="Dansk" data-language-local-name="Danish" class="interlanguage-link-target"><span>Dansk</span></a></li><li class="interlanguage-link interwiki-de mw-list-item"><a href="https://de.wikipedia.org/wiki/CHARGE-Syndrom" title="CHARGE-Syndrom – German" lang="de" hreflang="de" data-title="CHARGE-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_CHARGE" title="Síndrome CHARGE – Spanish" lang="es" hreflang="es" data-title="Síndrome CHARGE" data-language-autonym="Español" data-language-local-name="Spanish" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-fr mw-list-item"><a href="https://fr.wikipedia.org/wiki/Syndrome_CHARGE" title="Syndrome CHARGE – French" lang="fr" hreflang="fr" data-title="Syndrome CHARGE" data-language-autonym="Français" data-language-local-name="French" class="interlanguage-link-target"><span>Français</span></a></li><li class="interlanguage-link interwiki-it mw-list-item"><a href="https://it.wikipedia.org/wiki/Sindrome_CHARGE" title="Sindrome CHARGE – Italian" lang="it" hreflang="it" data-title="Sindrome CHARGE" data-language-autonym="Italiano" data-language-local-name="Italian" class="interlanguage-link-target"><span>Italiano</span></a></li><li class="interlanguage-link interwiki-ja mw-list-item"><a href="https://ja.wikipedia.org/wiki/CHARGE%E7%97%87%E5%80%99%E7%BE%A4" title="CHARGE症候群 – Japanese" lang="ja" hreflang="ja" data-title="CHARGE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-pl mw-list-item"><a href="https://pl.wikipedia.org/wiki/Asocjacja_CHARGE" title="Asocjacja CHARGE – Polish" lang="pl" hreflang="pl" data-title="Asocjacja CHARGE" 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_CHARGE" title="Síndrome CHARGE – Portuguese" lang="pt" hreflang="pt" data-title="Síndrome CHARGE" 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_CHARGE" title="Синдром CHARGE – Russian" lang="ru" hreflang="ru" data-title="Синдром CHARGE" data-language-autonym="Русский" data-language-local-name="Russian" class="interlanguage-link-target"><span>Русский</span></a></li><li class="interlanguage-link interwiki-fi mw-list-item"><a href="https://fi.wikipedia.org/wiki/Charge-oireyhtym%C3%A4" title="Charge-oireyhtymä – Finnish" lang="fi" hreflang="fi" data-title="Charge-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/CHARGE-syndromet" title="CHARGE-syndromet – Swedish" lang="sv" hreflang="sv" data-title="CHARGE-syndromet" data-language-autonym="Svenska" data-language-local-name="Swedish" class="interlanguage-link-target"><span>Svenska</span></a></li><li class="interlanguage-link interwiki-tr mw-list-item"><a href="https://tr.wikipedia.org/wiki/CHARGE_sendromu" title="CHARGE sendromu – Turkish" lang="tr" hreflang="tr" data-title="CHARGE sendromu" data-language-autonym="Türkçe" data-language-local-name="Turkish" class="interlanguage-link-target"><span>Türkçe</span></a></li><li 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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" 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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=%22CHARGE+syndrome%22">"CHARGE syndrome"</a> – <a rel="nofollow" class="external text" href="https://www.google.com/search?tbm=nws&q=%22CHARGE+syndrome%22+-wikipedia&tbs=ar:1">news</a> <b>·</b> <a rel="nofollow" class="external text" href="https://www.google.com/search?&q=%22CHARGE+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=%22CHARGE+syndrome%22+-wikipedia">books</a> <b>·</b> <a rel="nofollow" class="external text" href="https://scholar.google.com/scholar?q=%22CHARGE+syndrome%22">scholar</a> <b>·</b> <a rel="nofollow" class="external text" href="https://www.jstor.org/action/doBasicSearch?Query=%22CHARGE+syndrome%22&acc=on&wc=on">JSTOR</a></span></small></span> <span class="date-container"><i>(<span class="date">July 2022</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> <p class="mw-empty-elt"> </p> <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">CHARGE syndrome</th></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:Charge.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/7/73/Charge.jpg/220px-Charge.jpg" decoding="async" width="220" height="252" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/7/73/Charge.jpg/330px-Charge.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/7/73/Charge.jpg/440px-Charge.jpg 2x" data-file-width="1200" data-file-height="1375" /></a></span></td></tr><tr><td colspan="2" class="infobox-full-data">"Lop ear" phenotype characteristic of a person with CHARGE syndrome, along with her <a href="/wiki/Cochlear_implant" title="Cochlear implant">cochlear implant</a>.</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> <span class="penicon autoconfirmed-show"><span class="mw-valign-text-top" typeof="mw:File/Frameless"><a href="https://www.wikidata.org/wiki/Q1023604?uselang=en#P1995" title="Edit this on Wikidata"><img alt="Edit this on 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></span></td></tr></tbody></table> <p><b>CHARGE syndrome</b> (formerly known as <b>CHARGE association</b>) is a rare <a href="/wiki/Syndrome" title="Syndrome">syndrome</a> caused by a <a href="/wiki/Genetic_disorder" title="Genetic disorder">genetic disorder</a>. First described in 1979, the <a href="/wiki/Acronym" title="Acronym">acronym</a> "CHARGE" came into use for newborn children with the congenital features of <a href="/wiki/Coloboma" title="Coloboma">coloboma</a> of the eye, <a href="/wiki/Congenital_heart_defect" title="Congenital heart defect">heart defects</a>, <a href="/wiki/Choanal_atresia" title="Choanal atresia">atresia of the nasal choanae</a>, <a href="/wiki/Growth_retardation" class="mw-redirect" title="Growth retardation">restricted growth or development</a>, <a href="/wiki/Genital" class="mw-redirect" title="Genital">genital</a> or urinary abnormalities, and ear abnormalities and <a href="/wiki/Deafness" title="Deafness">deafness</a>.<sup id="cite_ref-Pagon_1-0" class="reference"><a href="#cite_note-Pagon-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> These features are no longer used in making a diagnosis of CHARGE syndrome, but the name remains. About two thirds of cases are due to a <a href="/wiki/CHD7" title="CHD7">CHD7</a> mutation. CHARGE syndrome occurs only in 0.1–1.2 per 10,000 live births; as of 2009, it was the leading cause of congenital <a href="/wiki/Deafblindness" title="Deafblindness">deafblindness</a> in the US.<sup id="cite_ref-2" class="reference"><a href="#cite_note-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Genetics">Genetics</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=CHARGE_syndrome&action=edit&section=1" title="Edit section: Genetics"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>CHARGE syndrome was formerly referred to as CHARGE association, which indicates a non-random pattern of congenital anomalies that occurs together more frequently than one would expect on the basis of chance, but for which a common cause has not been identified. Very few people with CHARGE will have 100% of its known features. In 2004, mutations on the <a href="/wiki/CHD7" title="CHD7">CHD7</a> gene (located on <a href="/wiki/Chromosome_8" title="Chromosome 8">Chromosome 8</a>) were found in 10 of 17 patients in the Netherlands, making CHARGE an official syndrome.<sup id="cite_ref-3" class="reference"><a href="#cite_note-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> A 2006 US study of 110 individuals with CHARGE syndrome showed that 60% of those tested had a mutation of the CHD7 gene.<sup id="cite_ref-4" class="reference"><a href="#cite_note-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p><p>In 2010, a review of 379 clinically diagnosed cases of CHARGE syndrome, in which <a href="/wiki/CHD7" title="CHD7">CHD7</a> mutation testing was undertaken found that 67% of cases were due to a <a href="/wiki/CHD7" title="CHD7">CHD7</a> mutation.<sup id="cite_ref-pmid20186815_5-0" class="reference"><a href="#cite_note-pmid20186815-5"><span class="cite-bracket">[</span>5<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=CHARGE_syndrome&action=edit&section=2" title="Edit section: Diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The diagnosis of CHARGE syndrome is often difficult, because it is rare. The syndrome spans many disciplines, and as such, the symptoms may be recognized by a pediatrician, family medicine physician, <a href="/wiki/Oral_and_maxillofacial_surgeon" class="mw-redirect" title="Oral and maxillofacial surgeon">oral and maxillofacial surgeon</a>, ENT specialist, ophthalmologist, endocrinologist, cardiologist, urologist, developmental specialist, radiologist, geneticist, physiotherapist, occupational therapist, speech therapist, or orthopedic specialist.<sup id="cite_ref-auto_6-0" class="reference"><a href="#cite_note-auto-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Signs">Signs</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=CHARGE_syndrome&action=edit&section=3" title="Edit section: Signs"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Although <a href="/wiki/Genetic_test" class="mw-redirect" title="Genetic test">genetic testing</a> positively identifies nearly two thirds of children with CHARGE syndrome, diagnosis is still largely clinical.<sup id="cite_ref-auto_6-1" class="reference"><a href="#cite_note-auto-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> The following signs were originally identified in children with this syndrome, but are no longer used to make the diagnosis alone. </p> <ul><li><b>C</b> – <a href="/wiki/Coloboma" title="Coloboma">Coloboma</a> of the <a href="/wiki/Human_eye" title="Human eye">eye</a>, <a href="/wiki/Central_nervous_system" title="Central nervous system">central nervous system</a> anomalies</li> <li><b>H</b> – <a href="/wiki/Heart_defects" class="mw-redirect" title="Heart defects">Heart defects</a></li> <li><b>A</b> – <a href="/wiki/Choanal_atresia" title="Choanal atresia">Atresia of the choanae</a></li> <li><b>R</b> – Restricted growth and/or development</li> <li><b>G</b> – Genital and/or urinary defects (<a href="/wiki/Hypogonadism" title="Hypogonadism">hypogonadism</a>, <a href="/wiki/Cryptorchidism" title="Cryptorchidism">undescended testicles</a>, besides <a href="/wiki/Hypospadias" title="Hypospadias">hypospadias</a>)</li> <li><b>E</b> – Ear anomalies and/or <a href="/wiki/Deafness" title="Deafness">deafness</a> and abnormally bowl-shaped and concave ears, known as "lop ears".</li></ul> <div class="mw-heading mw-heading3"><h3 id="Genetic_testing">Genetic testing</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=CHARGE_syndrome&action=edit&section=4" title="Edit section: Genetic testing"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p><a href="/wiki/Genetic_testing" title="Genetic testing">Genetic testing</a> for CHARGE syndrome involves specific genetic testing for the CHD7 gene. The test is available<sup class="noprint Inline-Template" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Manual_of_Style/Dates_and_numbers#Chronological_items" title="Wikipedia:Manual of Style/Dates and numbers"><span title="The time period mentioned near this tag is ambiguous. (July 2016)">when?</span></a></i>]</sup> at most major genetic testing laboratories. Insurance companies sometimes do not pay for such genetic tests, though this is changing rapidly as genetic testing is becoming standard across all aspects of medicine. CHARGE syndrome is a clinical diagnosis, which means genetic testing is not required in order to make the diagnosis. Rather, the diagnosis can be made based on clinical features alone. </p> <div class="mw-heading mw-heading3"><h3 id="Screening_other_organ_systems">Screening other organ systems</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=CHARGE_syndrome&action=edit&section=5" title="Edit section: Screening other organ systems"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Once the diagnosis is made based on clinical signs, it is important to investigate other body systems that may be involved. For example, if the diagnosis is made based on the abnormal appearance of the ears and developmental delay, it is important to check the child's hearing, vision, heart, nose, and urogenital system. Ideally, every child newly diagnosed with CHARGE syndrome should have a complete evaluation by an ENT specialist, audiologist, ophthalmologist, pediatric cardiologist, developmental therapist, and pediatric urologist. </p><p><a rel="nofollow" class="external text" href="https://onlinelibrary.wiley.com/doi/10.1002/ccr3.8670">Recent research</a> led by Yu Liang from Shijiazhuang Fourth Hospital and Sijie He from <a href="/wiki/BGI_Group" title="BGI Group">BGI Genomics</a>, highlighted the use of prenatal ultrasound to detect CHARGE syndrome. Key findings indicated the difficulty in diagnosing CHARGE syndrome without genetic testing,<sup id="cite_ref-Liang_2024_7-0" class="reference"><a href="#cite_note-Liang_2024-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> as mutations in the CHD7 gene are not always listed in public databases.<sup id="cite_ref-8" class="reference"><a href="#cite_note-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> and predicted to be deleterious by CADD<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> and MutationTaster.<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> </p><p>Phenotypic variability further complicates diagnosis, with no clear correlation between mutation severity and clinical presentation. Trio-WES analysis confirmed a de novo mutation in the newborn, emphasizing the importance of early diagnosis for effective management. The study underscores the significance of early prenatal diagnosis through ultrasound examinations and specialized genetic testing.<sup id="cite_ref-Liang_2024_7-1" class="reference"><a href="#cite_note-Liang_2024-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> This approach facilitates timely interventions and enhances understanding of rare genetic conditions, improving diagnostic protocols for CHARGE syndrome and similar disorders. </p> <div class="mw-heading mw-heading2"><h2 id="Treatment">Treatment</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=CHARGE_syndrome&action=edit&section=6" title="Edit section: Treatment"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Children with CHARGE syndrome may have a number of life-threatening medical conditions; with advances in medical care, these children can survive and can thrive with the support of a multidisciplinary team of medical professionals. Therapies and education must take into consideration hearing impairment, vision problems, and any others. Early intervention, such as occupational, speech-language, and physical therapy, to improve static posture, ambulation, and self-care skills is important. The intelligence of children with multiple health impairments, such as combined <a href="/wiki/Deafblindness" title="Deafblindness">deafblindness</a>, can be underestimated in the absence of early intervention.<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> </p> <div class="mw-heading mw-heading3"><h3 id="Education">Education</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=CHARGE_syndrome&action=edit&section=7" title="Edit section: Education"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Children with CHARGE syndrome will vary greatly in their abilities in the classroom: some may need little support, while some may require full-time support and individualized programs. Taking each of the various affected body systems into account is vital to the success of the child in the educational setting. </p><p>An important step in dealing with abnormal behavior is understanding why it is occurring and helping the child learn more appropriate methods of communicating.<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-heading2"><h2 id="Epidemiology">Epidemiology</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=CHARGE_syndrome&action=edit&section=8" title="Edit section: Epidemiology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The incidence is estimated to range from 0.1 to 1.2 per 10,000 live births, though the true incidence is unknown.<sup id="cite_ref-pmid16959034_13-0" class="reference"><a href="#cite_note-pmid16959034-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> As of 2005, the highest prevalence was found in Canada and estimated at 1 in 8,500 live births.<sup id="cite_ref-pmid15637722_14-0" class="reference"><a href="#cite_note-pmid15637722-14"><span class="cite-bracket">[</span>14<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=CHARGE_syndrome&action=edit&section=9" title="Edit section: History"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>B.D. Hall first described the CHARGE association in a 1979 journal paper of about 17 children who had been born with <a href="/wiki/Choanal_atresia" title="Choanal atresia">choanal atresia</a>.<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> During the same year, H.M. Hittner described 10 children who had choanal atresia as well as coloboma, congenital heart defect, and hearing loss.<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> Using both coloboma or choanal atresia and some of the other related characteristic malformations, R. A. Pagon first coined the acronym CHARGE in 1981 to emphasize that this cluster of associated malformations occurred together.<sup id="cite_ref-Pagon_1-1" class="reference"><a href="#cite_note-Pagon-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> It came to be recognised<sup class="noprint Inline-Template" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Manual_of_Style/Dates_and_numbers#Chronological_items" title="Wikipedia:Manual of Style/Dates and numbers"><span title="The time period mentioned near this tag is ambiguous. (July 2016)">when?</span></a></i>]</sup> as a syndrome within the umbrella of the CHARGE association, a set of apparently random signs occurring together. Since the signs seen in CHARGE are caused by a genetic anomaly, its name was eventually<sup class="noprint Inline-Template" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Manual_of_Style/Dates_and_numbers#Chronological_items" title="Wikipedia:Manual of Style/Dates and numbers"><span title="The time period mentioned near this tag is ambiguous. (July 2016)">when?</span></a></i>]</sup> changed to 'CHARGE syndrome'.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (July 2016)">citation needed</span></a></i>]</sup> </p><p>The CHARGE Syndrome Foundation, formally incorporated in 1993,<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> is a US-based organization for individuals with CHARGE syndrome, families, researchers, and clinicians to further research and scientific knowledge about CHARGE Syndrome. The Foundation holds a biennial international conference that was first held in 1993.<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> </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=CHARGE_syndrome&action=edit&section=10" 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=CHARGE_syndrome&action=edit&section=11" 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-Pagon-1"><span class="mw-cite-backlink">^ <a href="#cite_ref-Pagon_1-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Pagon_1-1"><sup><i><b>b</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 id="CITEREFPagonGrahamZonanaYong1981" class="citation journal cs1">Pagon RA, Graham JM, Zonana J, Yong SL (August 1981). 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Retrieved <span class="nowrap">2021-12-09</span></span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=Charge+Syndrome+Foundation+%7C+A+better+world+for+people+with+CHARGE+Syndrome.&rft.atitle=Conferences+%7C+Charge+Syndrome+Foundation&rft_id=https%3A%2F%2Fwww.chargesyndrome.org%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3ACHARGE+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=CHARGE_syndrome&action=edit&section=12" title="Edit section: External links"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a rel="nofollow" class="external text" href="https://www.chargesyndrome.org/">The CHARGE Syndrome Foundation</a></li></ul> <div class="navbox-styles"><style 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· ";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/Q1023604" class="extiw" title="d:Q1023604">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#/Q87.8">Q87.8</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/214800">214800</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=D058747">D058747</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/ddb32233.htm">32233</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/EMedicine" title="EMedicine">eMedicine</a></b>: <a rel="nofollow" class="external text" href="https://emedicine.medscape.com/ped/367-overview">ped/367</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 class="mw-selflink selflink">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 href="/wiki/Noonan_syndrome" title="Noonan syndrome">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" 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style="width:1%"><a href="/wiki/Chromatin_remodeling" title="Chromatin remodeling">Chromatin remodeling</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/CHD7" title="CHD7">CHD7</a></i> (<a class="mw-selflink selflink">CHARGE syndrome</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Polyadenylation" title="Polyadenylation">Polyadenylation</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/PABPN1" title="PABPN1">PABPN1</a></i> (<a href="/wiki/Oculopharyngeal_muscular_dystrophy" title="Oculopharyngeal muscular dystrophy">Oculopharyngeal muscular dystrophy</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/RNA_splicing" title="RNA splicing">RNA splicing</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/PRPF31" title="PRPF31">PRPF31</a></i> (<a href="/wiki/Retinitis_pigmentosa" title="Retinitis pigmentosa">Retinitis pigmentosa 11</a>)</li> <li><i><a href="/wiki/PRPF8" title="PRPF8">PRPF8</a></i> (<a href="/wiki/Retinitis_pigmentosa" title="Retinitis pigmentosa">Retinitis pigmentosa 13</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 href="/wiki/Noonan_syndrome" title="Noonan syndrome">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 class="mw-selflink selflink">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><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=CHARGE_syndrome&oldid=1252704075">https://en.wikipedia.org/w/index.php?title=CHARGE_syndrome&oldid=1252704075</a>"</div></div> <div id="catlinks" class="catlinks" data-mw="interface"><div 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