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Liebenberg syndrome - Wikipedia

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.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">Liebenberg syndrome</th></tr><tr><th scope="row" class="infobox-label">Other names</th><td class="infobox-data">Brachydactyly-elbow wrist dysplasia syndrome<sup id="cite_ref-1" class="reference"><a href="#cite_note-1"><span class="cite-bracket">&#91;</span>1<span class="cite-bracket">&#93;</span></a></sup></td></tr></tbody></table> <p><b>Liebenberg syndrome</b> is a rare <a href="/wiki/Autosome" title="Autosome">autosomal</a> genetic disease that involves a <a href="/wiki/Deletion_(genetics)" title="Deletion (genetics)">deletion mutation</a> upstream of the <a href="/wiki/PITX1" title="PITX1">PITX1 gene</a>, which is one that's responsible for the body's organization, specifically in forming lower limbs.<sup id="cite_ref-Al-Quattan_2-0" class="reference"><a href="#cite_note-Al-Quattan-2"><span class="cite-bracket">&#91;</span>2<span class="cite-bracket">&#93;</span></a></sup> In animal studies, when this deletion was introduced to developing birds, their wing buds were noted to take on limb-like structures.<sup id="cite_ref-3" class="reference"><a href="#cite_note-3"><span class="cite-bracket">&#91;</span>3<span class="cite-bracket">&#93;</span></a></sup> </p><p>The condition was first described by Dr. F. Liebenberg in 1973 while he followed multiple generations of a South African family,<sup id="cite_ref-Leibenberg_4-0" class="reference"><a href="#cite_note-Leibenberg-4"><span class="cite-bracket">&#91;</span>4<span class="cite-bracket">&#93;</span></a></sup> but it has since been noticed in other family lineages across the world.<sup id="cite_ref-Al-Quattan_2-1" class="reference"><a href="#cite_note-Al-Quattan-2"><span class="cite-bracket">&#91;</span>2<span class="cite-bracket">&#93;</span></a></sup> </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Symptoms_and_signs">Symptoms and signs</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Liebenberg_syndrome&amp;action=edit&amp;section=1" title="Edit section: Symptoms and signs"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>People who are affected by Liebenberg Syndrome suffer from three main symptoms:<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">&#91;<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2021)">citation needed</span></a></i>&#93;</sup> </p> <ol><li><a href="/wiki/Dysplasia" title="Dysplasia">Dysplasia</a> (improper formation) of the bony components of the elbow</li> <li>Abnormal shape of <a href="/wiki/Carpal_bones" title="Carpal bones">carpal bones</a></li> <li><a href="/wiki/Brachydactyly" title="Brachydactyly">Brachydactyly</a>, a symptom where the fingers and toes are shorter than normal.</li></ol> <div class="mw-heading mw-heading3"><h3 id="Phenotype">Phenotype</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Liebenberg_syndrome&amp;action=edit&amp;section=2" title="Edit section: Phenotype"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>People with Liebenberg Syndrome have normal overall body structure. Their morphological differences are in both of their <a href="/wiki/Humerus" title="Humerus">distal humeri</a>, elbows, hands and wrists.<sup id="cite_ref-Mennen_5-0" class="reference"><a href="#cite_note-Mennen-5"><span class="cite-bracket">&#91;</span>5<span class="cite-bracket">&#93;</span></a></sup> The elbows are enlarged with abnormally large <a href="/wiki/Olecranon" title="Olecranon">olecranons</a> and <a href="/wiki/Radius_(bone)" title="Radius (bone)">radial heads</a>. Patients have relatively fixed elbow positions and are therefore unable to <a href="/wiki/Anatomical_terms_of_motion" title="Anatomical terms of motion">pronate</a> or <a href="/wiki/Anatomical_terms_of_motion" title="Anatomical terms of motion">supinate</a> their forearms. Their wrists are also limited in their active movements and have very prominent ulnar sides of the joints. The fingers adopt toe-like structures. <a href="/wiki/Brachydactyly" title="Brachydactyly">Brachydactyly</a> and <a href="/wiki/Camptodactyly" title="Camptodactyly">camptodactyly</a> occur; fingers are short and abnormally bent. These changes in finger shape result in small club shaped appendages. Motion is reduced in all digital joints of the hand.<sup id="cite_ref-Mennen_5-1" class="reference"><a href="#cite_note-Mennen-5"><span class="cite-bracket">&#91;</span>5<span class="cite-bracket">&#93;</span></a></sup> </p> <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=Liebenberg_syndrome&amp;action=edit&amp;section=3" title="Edit section: Genetics"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure typeof="mw:File/Thumb"><a href="/wiki/File:Autosomal_dominant.png" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/2/21/Autosomal_dominant.png/261px-Autosomal_dominant.png" decoding="async" width="261" height="196" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/2/21/Autosomal_dominant.png/392px-Autosomal_dominant.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/2/21/Autosomal_dominant.png/522px-Autosomal_dominant.png 2x" data-file-width="1058" data-file-height="794" /></a><figcaption>Example of autosomal dominant inheritance</figcaption></figure> <p>Liebenberg Syndrome follows an <a href="/wiki/Dominance_(genetics)" title="Dominance (genetics)">autosomal dominant</a> mode of inheritance,<sup id="cite_ref-Leibenberg_4-1" class="reference"><a href="#cite_note-Leibenberg-4"><span class="cite-bracket">&#91;</span>4<span class="cite-bracket">&#93;</span></a></sup><sup id="cite_ref-Tiberio_6-0" class="reference"><a href="#cite_note-Tiberio-6"><span class="cite-bracket">&#91;</span>6<span class="cite-bracket">&#93;</span></a></sup> whereby <a href="/wiki/Heterozygotes" class="mw-redirect" title="Heterozygotes">heterozygotes</a> with this mutation express the disease <a href="/wiki/Phenotype" title="Phenotype">phenotype</a>. </p><p>It is caused by a heterozygous mutation to chromosome 5. It involves the inappropriate enhancement of the PITX1 gene due to genetic deletions and <a href="/wiki/Chromosomal_translocation" title="Chromosomal translocation">chromosome translocations</a>.<sup id="cite_ref-Mennen_5-2" class="reference"><a href="#cite_note-Mennen-5"><span class="cite-bracket">&#91;</span>5<span class="cite-bracket">&#93;</span></a></sup> </p><p>PITX1 is a <a href="/wiki/Homeobox" title="Homeobox">homeobox gene</a> which are genes that regulate proper body structure development. This PT1X gene encodes a <a href="/wiki/Transcription_factor" title="Transcription factor">transcription factor</a> expressed in hind limbs. When expressed, it causes the formation of hindlimb structures.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">&#91;<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2021)">citation needed</span></a></i>&#93;</sup> </p><p>Liebenberg Syndrome is a result of one of two different genetic mutations. The first is a deletion upstream of the PITX1 gene on chromosome 5. This deletion includes the <a href="/wiki/H2AFY" title="H2AFY">H2AFY</a> gene, which is responsible for suppressing an upstream <a href="/wiki/Enhancer_(genetics)" title="Enhancer (genetics)">enhancer element</a> known as hs1473. When H2AFY is removed, the enhancer is brought closer to PITX1 and inappropriately enhances it in forelimbs, causing them to adopt hindlimb morphology.<sup id="cite_ref-Speilmann_7-0" class="reference"><a href="#cite_note-Speilmann-7"><span class="cite-bracket">&#91;</span>7<span class="cite-bracket">&#93;</span></a></sup> </p><p>The second mutation that can cause the phenotype for Liebenberg syndrome is a <a href="/wiki/Chromosomal_translocation" title="Chromosomal translocation">translocation</a> of chromosome 18 and chromosome 5. Translocation mutations are ones that switch parts of <a href="/wiki/Homologous_chromosome" title="Homologous chromosome">non-homologous chromosomes</a> with each other. This move introduces two enhancers from chromosome 18 to move to a position directly upstream of PITX1 on chromosome 5. The enhancers increase transcription of the PITX1 gene and cause patients to develop the same phenotype described above.<sup id="cite_ref-Speilmann_7-1" class="reference"><a href="#cite_note-Speilmann-7"><span class="cite-bracket">&#91;</span>7<span class="cite-bracket">&#93;</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=Liebenberg_syndrome&amp;action=edit&amp;section=4" title="Edit section: Diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></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-Empty_section plainlinks metadata ambox mbox-small-left ambox-content" role="presentation"><tbody><tr><td class="mbox-image"><span typeof="mw:File"><a href="/wiki/File:Wiki_letter_w_cropped.svg" class="mw-file-description"><img alt="[icon]" src="//upload.wikimedia.org/wikipedia/commons/thumb/1/1c/Wiki_letter_w_cropped.svg/20px-Wiki_letter_w_cropped.svg.png" decoding="async" width="20" height="14" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/1/1c/Wiki_letter_w_cropped.svg/30px-Wiki_letter_w_cropped.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/1/1c/Wiki_letter_w_cropped.svg/40px-Wiki_letter_w_cropped.svg.png 2x" data-file-width="44" data-file-height="31" /></a></span></td><td class="mbox-text"><div class="mbox-text-span"><b>This section is empty.</b> You can help by <a class="external text" href="https://en.wikipedia.org/w/index.php?title=Liebenberg_syndrome&amp;action=edit&amp;section=">adding to it</a>. <span class="date-container"><i>(<span class="date">January 2018</span>)</i></span></div></td></tr></tbody></table> <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=Liebenberg_syndrome&amp;action=edit&amp;section=5" title="Edit section: Treatment"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Surgery is an option to correct some of the morphological changes made by Liebenberg Syndrome. Cases exist where surgery is performed to correct <a href="/wiki/Radius_(bone)" title="Radius (bone)">radial</a> deviations and flexion deformities in the wrist. A surgery called a <a href="/wiki/Wrist_osteoarthritis" title="Wrist osteoarthritis">carpectomy</a> has been performed on a patient whereby a surgeon removes the <a href="/wiki/Proximal" class="mw-redirect" title="Proximal">proximal</a> row of the <a href="/wiki/Carpal_bones" title="Carpal bones">carpal bones</a>.<sup id="cite_ref-8" class="reference"><a href="#cite_note-8"><span class="cite-bracket">&#91;</span>8<span class="cite-bracket">&#93;</span></a></sup> This procedure removes some of the carpal bones to create a more regular wrist function than is observed in people with this condition.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">&#91;<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2021)">citation needed</span></a></i>&#93;</sup> </p> <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=Liebenberg_syndrome&amp;action=edit&amp;section=6" 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"><ol class="references"> <li id="cite_note-1"><span class="mw-cite-backlink"><b><a href="#cite_ref-1">^</a></b></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="CITEREFReference" class="citation web cs1">Reference, Genetics Home. <a rel="nofollow" class="external text" href="https://ghr.nlm.nih.gov/condition/liebenberg-syndrome#synonyms">"Liebenberg syndrome"</a>. <i>Genetics Home Reference</i><span class="reference-accessdate">. Retrieved <span class="nowrap">15 March</span> 2019</span>.</cite><span title="ctx_ver=Z39.88-2004&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&amp;rft.genre=unknown&amp;rft.jtitle=Genetics+Home+Reference&amp;rft.atitle=Liebenberg+syndrome&amp;rft.aulast=Reference&amp;rft.aufirst=Genetics+Home&amp;rft_id=https%3A%2F%2Fghr.nlm.nih.gov%2Fcondition%2Fliebenberg-syndrome%23synonyms&amp;rfr_id=info%3Asid%2Fen.wikipedia.org%3ALiebenberg+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Al-Quattan-2"><span class="mw-cite-backlink">^ <a href="#cite_ref-Al-Quattan_2-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Al-Quattan_2-1"><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="CITEREFAl-Quattan2013" class="citation journal cs1">Al-Quattan, Mohammad (2013). "Liebenberg syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation of the upper limbs to reflect lower limb characteristics". <i>Gene</i>. <b>524</b> (1): 65–71. <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.gene.2013.03.120">10.1016/j.gene.2013.03.120</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a>&#160;<a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/23587911">23587911</a>.</cite><span title="ctx_ver=Z39.88-2004&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&amp;rft.genre=article&amp;rft.jtitle=Gene&amp;rft.atitle=Liebenberg+syndrome+is+caused+by+a+deletion+upstream+to+the+PITX1+gene+resulting+in+transformation+of+the+upper+limbs+to+reflect+lower+limb+characteristics&amp;rft.volume=524&amp;rft.issue=1&amp;rft.pages=65-71&amp;rft.date=2013&amp;rft_id=info%3Adoi%2F10.1016%2Fj.gene.2013.03.120&amp;rft_id=info%3Apmid%2F23587911&amp;rft.aulast=Al-Quattan&amp;rft.aufirst=Mohammad&amp;rfr_id=info%3Asid%2Fen.wikipedia.org%3ALiebenberg+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-3"><span class="mw-cite-backlink"><b><a href="#cite_ref-3">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFLogan_M.Tabin_C.J.1999" class="citation journal cs1">Logan M.; Tabin C.J. (1999). "Role of Pitx1 upstream of Tbx4 in specification of hind limb identity". <i>Science</i>. <b>283</b> (5408): 1736–1739. <a href="/wiki/Bibcode_(identifier)" class="mw-redirect" title="Bibcode (identifier)">Bibcode</a>:<a rel="nofollow" class="external text" href="https://ui.adsabs.harvard.edu/abs/1999Sci...283.1736L">1999Sci...283.1736L</a>. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1126%2Fscience.283.5408.1736">10.1126/science.283.5408.1736</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a>&#160;<a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/10073939">10073939</a>.</cite><span title="ctx_ver=Z39.88-2004&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&amp;rft.genre=article&amp;rft.jtitle=Science&amp;rft.atitle=Role+of+Pitx1+upstream+of+Tbx4+in+specification+of+hind+limb+identity&amp;rft.volume=283&amp;rft.issue=5408&amp;rft.pages=1736-1739&amp;rft.date=1999&amp;rft_id=info%3Apmid%2F10073939&amp;rft_id=info%3Adoi%2F10.1126%2Fscience.283.5408.1736&amp;rft_id=info%3Abibcode%2F1999Sci...283.1736L&amp;rft.au=Logan+M.&amp;rft.au=Tabin+C.J.&amp;rfr_id=info%3Asid%2Fen.wikipedia.org%3ALiebenberg+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Leibenberg-4"><span class="mw-cite-backlink">^ <a href="#cite_ref-Leibenberg_4-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Leibenberg_4-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text">Liebenberg, F., 1973. A pedigree with unusual anomalies of the elbows, wrist, and hands in fine generations. S. Afr. Med. J. 47, 745–747. Accessed October 4, 2015.</span> </li> <li id="cite_note-Mennen-5"><span class="mw-cite-backlink">^ <a href="#cite_ref-Mennen_5-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Mennen_5-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-Mennen_5-2"><sup><i><b>c</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFMennen2013" class="citation journal cs1">Mennen, U; et&#160;al. (2013). "The Liebenberg syndrome: in depth analysis of the original family". <i>The Journal of Hand Surgery</i>. <b>39</b> (9): 919–925. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1177%2F1753193413502162">10.1177/1753193413502162</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a>&#160;<a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/23940102">23940102</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a>&#160;<a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:19427503">19427503</a>.</cite><span title="ctx_ver=Z39.88-2004&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&amp;rft.genre=article&amp;rft.jtitle=The+Journal+of+Hand+Surgery&amp;rft.atitle=The+Liebenberg+syndrome%3A+in+depth+analysis+of+the+original+family&amp;rft.volume=39&amp;rft.issue=9&amp;rft.pages=919-925&amp;rft.date=2013&amp;rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A19427503%23id-name%3DS2CID&amp;rft_id=info%3Apmid%2F23940102&amp;rft_id=info%3Adoi%2F10.1177%2F1753193413502162&amp;rft.aulast=Mennen&amp;rft.aufirst=U&amp;rfr_id=info%3Asid%2Fen.wikipedia.org%3ALiebenberg+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Tiberio-6"><span class="mw-cite-backlink"><b><a href="#cite_ref-Tiberio_6-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFTiberio2000" class="citation journal cs1">Tiberio, G; et&#160;al. (2000). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734641">"Liebenberg syndrome: brachydactyly with joint dysplasia (MIM 186550)"</a>. <i>Journal of Medical Genetics</i>. <b>37</b> (7): 548–551. <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.37.7.548">10.1136/jmg.37.7.548</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a>&#160;<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734641">1734641</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a>&#160;<a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/10970192">10970192</a>.</cite><span title="ctx_ver=Z39.88-2004&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&amp;rft.genre=article&amp;rft.jtitle=Journal+of+Medical+Genetics&amp;rft.atitle=Liebenberg+syndrome%3A+brachydactyly+with+joint+dysplasia+%28MIM+186550%29&amp;rft.volume=37&amp;rft.issue=7&amp;rft.pages=548-551&amp;rft.date=2000&amp;rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1734641%23id-name%3DPMC&amp;rft_id=info%3Apmid%2F10970192&amp;rft_id=info%3Adoi%2F10.1136%2Fjmg.37.7.548&amp;rft.aulast=Tiberio&amp;rft.aufirst=G&amp;rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1734641&amp;rfr_id=info%3Asid%2Fen.wikipedia.org%3ALiebenberg+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Speilmann-7"><span class="mw-cite-backlink">^ <a href="#cite_ref-Speilmann_7-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Speilmann_7-1"><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="CITEREFSpielmann2012" class="citation journal cs1">Spielmann, Malte; et&#160;al. (2012). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3484647">"Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus"</a>. <i>American Journal of Human Genetics</i>. <b>91</b> (4): 629–35. <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.ajhg.2012.08.014">10.1016/j.ajhg.2012.08.014</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a>&#160;<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3484647">3484647</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a>&#160;<a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/23022097">23022097</a>.</cite><span title="ctx_ver=Z39.88-2004&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&amp;rft.genre=article&amp;rft.jtitle=American+Journal+of+Human+Genetics&amp;rft.atitle=Homeotic+Arm-to-Leg+Transformation+Associated+with+Genomic+Rearrangements+at+the+PITX1+Locus&amp;rft.volume=91&amp;rft.issue=4&amp;rft.pages=629-35&amp;rft.date=2012&amp;rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC3484647%23id-name%3DPMC&amp;rft_id=info%3Apmid%2F23022097&amp;rft_id=info%3Adoi%2F10.1016%2Fj.ajhg.2012.08.014&amp;rft.aulast=Spielmann&amp;rft.aufirst=Malte&amp;rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC3484647&amp;rfr_id=info%3Asid%2Fen.wikipedia.org%3ALiebenberg+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-8"><span class="mw-cite-backlink"><b><a href="#cite_ref-8">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFAbdel-Ghani2013" class="citation journal cs1">Abdel-Ghani, Hisham (2013). "Liebenberg Syndrome: Case Report and Insight Into Molecular Basis". <i>Journal of Hand Surgery</i>. <b>38</b> (3): 459–465. <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.jhsa.2012.12.015">10.1016/j.jhsa.2012.12.015</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a>&#160;<a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/23395106">23395106</a>.</cite><span title="ctx_ver=Z39.88-2004&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&amp;rft.genre=article&amp;rft.jtitle=Journal+of+Hand+Surgery&amp;rft.atitle=Liebenberg+Syndrome%3A+Case+Report+and+Insight+Into+Molecular+Basis&amp;rft.volume=38&amp;rft.issue=3&amp;rft.pages=459-465&amp;rft.date=2013&amp;rft_id=info%3Adoi%2F10.1016%2Fj.jhsa.2012.12.015&amp;rft_id=info%3Apmid%2F23395106&amp;rft.aulast=Abdel-Ghani&amp;rft.aufirst=Hisham&amp;rfr_id=info%3Asid%2Fen.wikipedia.org%3ALiebenberg+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=Liebenberg_syndrome&amp;action=edit&amp;section=7" title="Edit section: External links"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="navbox-styles"><style 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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></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 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