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<title>
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Entry
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- #122880 - CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS
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- OMIM
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<span class="h4">#122880</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(CRANIOFACIAL-DEAFNESS-HAND SYNDROME) OR (PAX3)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1695&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/craniofacial-deafness-hand-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=122880[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1529" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/5f07f333-4c03-469d-9cec-b14c6a887a6e/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111336" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/122880" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 702362004<br />
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<strong>ORPHA:</strong> 1529<br />
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<strong>DO:</strong> 0111336<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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122880
|
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
|
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<span class="mim-font">
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CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS
|
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</span>
|
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</h3>
|
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</div>
|
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<th>
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Location
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/2/1053?start=-3&limit=10&highlight=1053">
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2q36.1
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Craniofacial-deafness-hand syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/122880"> 122880 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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PAX3
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/606597"> 606597 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/122880" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/122880" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/122880" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> Facies </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Flat facial profile <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853241&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853241</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012368</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012368</a>]</span><br /> - Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
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</span>
|
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</div>
|
|
|
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</div>
|
|
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Nose </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypoplastic nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854114&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854114</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003196" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003196</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003196" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003196</a>]</span><br /> - Slitlike nares<br />
|
|
|
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</span>
|
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</div>
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|
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</div>
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|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Ears </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Sensorineural hearing loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br />
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|
|
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</span>
|
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</div>
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</div>
|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Limbs </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ulnar deviation of hands <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249757009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249757009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241521&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241521</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009487</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009487</a>]</span><br />
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|
|
|
</span>
|
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</div>
|
|
|
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</div>
|
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> Radiology </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Small maxilla <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.03</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240310</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000327</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000327</a>]</span><br /> - Absent or small nasal bones<br />
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</span>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Inheritance </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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|
|
|
</span>
|
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</div>
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</div>
|
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|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
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</div>
|
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</div>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that craniofacial-deafness-hand syndrome (CDHS) is caused by heterozygous mutation in the PAX3 gene (<a href="/entry/606597">606597</a>) on chromosome 2q36.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder characterized by dysmorphic facial features, hand abnormalities, absent or hypoplastic nasal and wrist bones, and severe sensorineural hearing impairment (summary by <a href="#3" class="mim-tip-reference" title="Gad, A., Laurino, M., Maravilla, K. R., Matsushita, M., Raskind, W. H. <strong>Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?</strong> Am. J. Med. Genet. 146A: 1880-1885, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18553554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18553554</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18553554[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.32402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18553554">Gad et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18553554" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p><a href="#7" class="mim-tip-reference" title="Sommer, A., Young-Wee, T., Frye, T. <strong>Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness.</strong> Am. J. Med. Genet. 15: 71-77, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6859126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6859126</a>] [<a href="https://doi.org/10.1002/ajmg.1320150109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6859126">Sommer et al. (1983)</a> reported a syndrome in mother and infant daughter with features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss. Common radiologic findings included small maxilla, absent or small nasal bones, and ulnar deviation of the hands. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6859126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Sommer, A., Bartholomew, D. W. <strong>Craniofacial-deafness-hand syndrome revisited.</strong> Am. J. Med. Genet. 123A: 91-94, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14556253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14556253</a>] [<a href="https://doi.org/10.1002/ajmg.a.20501" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14556253">Sommer and Bartholomew (2003)</a> provided a follow-up of the family reported by <a href="#7" class="mim-tip-reference" title="Sommer, A., Young-Wee, T., Frye, T. <strong>Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness.</strong> Am. J. Med. Genet. 15: 71-77, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6859126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6859126</a>] [<a href="https://doi.org/10.1002/ajmg.1320150109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6859126">Sommer et al. (1983)</a>. A boy born 2 years after the birth of the index patient had precisely the same manifestations as his mother and sister. The mother and daughter were found to have congenital absence of nasolacrimal ducts. The sister and brother grew and developed normally, were very good students, and were active in sports. They were attending college and had goals to be a veterinary technician and a computer technologist, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14556253+6859126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Gad, A., Laurino, M., Maravilla, K. R., Matsushita, M., Raskind, W. H. <strong>Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?</strong> Am. J. Med. Genet. 146A: 1880-1885, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18553554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18553554</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18553554[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.32402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18553554">Gad et al. (2008)</a> described a 37-year-old woman, born to healthy nonconsanguineous parents, with some, but not all, of the characteristics of CDHS. She had bilateral sensorineural hearing loss, flat facial profile, ptosis, downslanting palpebral fissures, short broad nose, depressed nasal bridge, micrognathia, hypertelorism, telecanthus, high arched palate, limited movement of the wrist with ulnar deviation of the hands, mild flexion contractures of digits 2-5, and clinodactyly of the 5th digits. In addition, CT scan of the face showed underdevelopment of the sinuses ranging from mild to complete aplasia, which had not previously been described in patients with CDHS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18553554" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of CDHS in the family reported by <a href="#1" class="mim-tip-reference" title="Asher, J. H., Jr., Sommer, A., Morrell, R., Friedman, T. B. <strong>Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.</strong> Hum. Mutat. 7: 30-35, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8664898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8664898</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)7:1<30::AID-HUMU4>3.0.CO;2-T" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8664898">Asher et al. (1996)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8664898" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Because dystopia canthorum, a midfacial alteration, is the most reliable indicator of a PAX3 mutation among Waardenburg syndrome type I families (<a href="/entry/193500">193500</a>), according to <a href="#2" class="mim-tip-reference" title="Farrer, L. A., Arnos, K. S., Asher, J. H., Jr., Baldwin, C. T., Diehl, S. R., Friedman, T. B., Greenberg, J., Grundfast, K. M., Hoth, C., Lalwani, A. K., Landa, B., Leverton, K., Milunsky, A., Morell, R., Nance, W. E., Newton, V., Ramesar, R., Rao, V. S., Reynolds, J. E., San Agustin, T. B., Wilcox, E. R., Winship, I., Read, A. P. <strong>Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.</strong> Am. J. Hum. Genet. 55: 728-737, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7942851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7942851</a>]" pmid="7942851">Farrer et al. (1994)</a>, and because during murine development the Pax3 gene was expressed in the nasal process (<a href="#4" class="mim-tip-reference" title="Goulding, M. D., Chalepakis, G., Deutsch, U., Erselius, J. R., Gruss, P. <strong>Pax-3, a novel murine DNA binding protein expressed during early neurogenesis.</strong> EMBO J. 10: 1135-1147, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2022185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2022185</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1991.tb08054.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2022185">Goulding et al., 1991</a>), <a href="#1" class="mim-tip-reference" title="Asher, J. H., Jr., Sommer, A., Morrell, R., Friedman, T. B. <strong>Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.</strong> Hum. Mutat. 7: 30-35, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8664898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8664898</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)7:1<30::AID-HUMU4>3.0.CO;2-T" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8664898">Asher et al. (1996)</a> explored the possibility that a mutant allele of PAX3 might be responsible for CDHS. In the mother and child reported by <a href="#7" class="mim-tip-reference" title="Sommer, A., Young-Wee, T., Frye, T. <strong>Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness.</strong> Am. J. Med. Genet. 15: 71-77, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6859126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6859126</a>] [<a href="https://doi.org/10.1002/ajmg.1320150109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6859126">Sommer et al. (1983)</a>, <a href="#1" class="mim-tip-reference" title="Asher, J. H., Jr., Sommer, A., Morrell, R., Friedman, T. B. <strong>Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.</strong> Hum. Mutat. 7: 30-35, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8664898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8664898</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)7:1<30::AID-HUMU4>3.0.CO;2-T" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8664898">Asher et al. (1996)</a> found heterozygosity for a missense mutation (N47K; <a href="/entry/606597#0010">606597.0010</a>) in the paired domain of PAX3 by SSCP analysis followed by sequencing. A previously described missense mutation in the same codon (N47H; <a href="/entry/606597#0011">606597.0011</a>) was reported by <a href="#5" class="mim-tip-reference" title="Hoth, C. F., Milunsky, A., Lipsky, N., Sheffer, R., Clarren, S. K., Baldwin, C. T. <strong>Mutations in the paired domain of the human PAX3 gene causes Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).</strong> Am. J. Hum. Genet. 52: 455-462, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8447316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8447316</a>]" pmid="8447316">Hoth et al. (1993)</a> in association with Waardenburg syndrome type III (<a href="/entry/148820">148820</a>). A substitution of a basic amino acid for asparagine at residue 47, conserved in all known murine Pax and human PAX genes, appears to have a more drastic effect on the phenotype than missense, frameshift, and deletion mutations of PAX3 that cause Waardenburg syndrome type I. Among 24 unrelated individuals with WS1 mutations, no 2 had been found to have the same point mutation in the protein-coding region of PAX3, nor did they have a change in the same codon (<a href="#2" class="mim-tip-reference" title="Farrer, L. A., Arnos, K. S., Asher, J. H., Jr., Baldwin, C. T., Diehl, S. R., Friedman, T. B., Greenberg, J., Grundfast, K. M., Hoth, C., Lalwani, A. K., Landa, B., Leverton, K., Milunsky, A., Morell, R., Nance, W. E., Newton, V., Ramesar, R., Rao, V. S., Reynolds, J. E., San Agustin, T. B., Wilcox, E. R., Winship, I., Read, A. P. <strong>Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.</strong> Am. J. Hum. Genet. 55: 728-737, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7942851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7942851</a>]" pmid="7942851">Farrer et al., 1994</a>). The finding in CDHS provided the first opportunity to compare molecular pathology and clinical heterogeneity between 2 different mutations in the same codon for PAX3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8664898+2022185+7942851+8447316+6859126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with possible CDHS, <a href="#3" class="mim-tip-reference" title="Gad, A., Laurino, M., Maravilla, K. R., Matsushita, M., Raskind, W. H. <strong>Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?</strong> Am. J. Med. Genet. 146A: 1880-1885, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18553554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18553554</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18553554[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.32402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18553554">Gad et al. (2008)</a> performed sequencing of all 9 exons and 20 bp of the flanking introns of the PAX3 gene and did not identify any mutations. The presence of heterozygosity for a PAX3 polymorphism ruled out a full gene deletion, but a partial deletion remained a possible disease mechanism in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18553554" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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Asher, J. H., Jr., Sommer, A., Morrell, R., Friedman, T. B.
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<strong>Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.</strong>
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Hum. Mutat. 7: 30-35, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8664898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8664898</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8664898" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)7:1<30::AID-HUMU4>3.0.CO;2-T" target="_blank">Full Text</a>]
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Farrer, L. A., Arnos, K. S., Asher, J. H., Jr., Baldwin, C. T., Diehl, S. R., Friedman, T. B., Greenberg, J., Grundfast, K. M., Hoth, C., Lalwani, A. K., Landa, B., Leverton, K., Milunsky, A., Morell, R., Nance, W. E., Newton, V., Ramesar, R., Rao, V. S., Reynolds, J. E., San Agustin, T. B., Wilcox, E. R., Winship, I., Read, A. P.
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<strong>Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.</strong>
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Am. J. Hum. Genet. 55: 728-737, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7942851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7942851</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7942851" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Gad, A., Laurino, M., Maravilla, K. R., Matsushita, M., Raskind, W. H.
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<strong>Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?</strong>
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Am. J. Med. Genet. 146A: 1880-1885, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18553554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18553554</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18553554[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18553554" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32402" target="_blank">Full Text</a>]
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Goulding, M. D., Chalepakis, G., Deutsch, U., Erselius, J. R., Gruss, P.
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<strong>Pax-3, a novel murine DNA binding protein expressed during early neurogenesis.</strong>
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EMBO J. 10: 1135-1147, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2022185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2022185</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2022185" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/j.1460-2075.1991.tb08054.x" target="_blank">Full Text</a>]
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Hoth, C. F., Milunsky, A., Lipsky, N., Sheffer, R., Clarren, S. K., Baldwin, C. T.
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<strong>Mutations in the paired domain of the human PAX3 gene causes Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).</strong>
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Am. J. Hum. Genet. 52: 455-462, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8447316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8447316</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8447316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<p class="mim-text-font">
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Sommer, A., Bartholomew, D. W.
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<strong>Craniofacial-deafness-hand syndrome revisited.</strong>
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Am. J. Med. Genet. 123A: 91-94, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14556253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14556253</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14556253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20501" target="_blank">Full Text</a>]
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<a id="Sommer1983" class="mim-anchor"></a>
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Sommer, A., Young-Wee, T., Frye, T.
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<strong>Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness.</strong>
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Am. J. Med. Genet. 15: 71-77, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6859126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6859126</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6859126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320150109" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Anne M. Stumpf - updated : 02/27/2020
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Victor A. McKusick - updated : 1/14/2004
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Victor A. McKusick : 6/4/1986
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alopez : 09/22/2023
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carol : 04/10/2023<br>alopez : 02/27/2020<br>carol : 06/21/2016<br>carol : 7/1/2009<br>carol : 6/18/2009<br>terry : 6/17/2009<br>tkritzer : 1/15/2004<br>terry : 1/14/2004<br>carol : 1/8/2002<br>carol : 6/18/1998<br>terry : 2/6/1996<br>mark : 1/30/1996<br>mark : 1/24/1996<br>mimadm : 6/25/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988<br>reenie : 6/4/1986
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<strong>#</strong> 122880
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CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS
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<strong>SNOMEDCT:</strong> 702362004;
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<strong>ORPHA:</strong> 1529;
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<strong>DO:</strong> 0111336;
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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2q36.1
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Craniofacial-deafness-hand syndrome
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122880
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Autosomal dominant
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3
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PAX3
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606597
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<p>A number sign (#) is used with this entry because of evidence that craniofacial-deafness-hand syndrome (CDHS) is caused by heterozygous mutation in the PAX3 gene (606597) on chromosome 2q36.</p>
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<p>Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder characterized by dysmorphic facial features, hand abnormalities, absent or hypoplastic nasal and wrist bones, and severe sensorineural hearing impairment (summary by Gad et al., 2008). </p>
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<strong>Clinical Features</strong>
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<p>Sommer et al. (1983) reported a syndrome in mother and infant daughter with features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss. Common radiologic findings included small maxilla, absent or small nasal bones, and ulnar deviation of the hands. </p><p>Sommer and Bartholomew (2003) provided a follow-up of the family reported by Sommer et al. (1983). A boy born 2 years after the birth of the index patient had precisely the same manifestations as his mother and sister. The mother and daughter were found to have congenital absence of nasolacrimal ducts. The sister and brother grew and developed normally, were very good students, and were active in sports. They were attending college and had goals to be a veterinary technician and a computer technologist, respectively. </p><p>Gad et al. (2008) described a 37-year-old woman, born to healthy nonconsanguineous parents, with some, but not all, of the characteristics of CDHS. She had bilateral sensorineural hearing loss, flat facial profile, ptosis, downslanting palpebral fissures, short broad nose, depressed nasal bridge, micrognathia, hypertelorism, telecanthus, high arched palate, limited movement of the wrist with ulnar deviation of the hands, mild flexion contractures of digits 2-5, and clinodactyly of the 5th digits. In addition, CT scan of the face showed underdevelopment of the sinuses ranging from mild to complete aplasia, which had not previously been described in patients with CDHS. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of CDHS in the family reported by Asher et al. (1996) was consistent with autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>Because dystopia canthorum, a midfacial alteration, is the most reliable indicator of a PAX3 mutation among Waardenburg syndrome type I families (193500), according to Farrer et al. (1994), and because during murine development the Pax3 gene was expressed in the nasal process (Goulding et al., 1991), Asher et al. (1996) explored the possibility that a mutant allele of PAX3 might be responsible for CDHS. In the mother and child reported by Sommer et al. (1983), Asher et al. (1996) found heterozygosity for a missense mutation (N47K; 606597.0010) in the paired domain of PAX3 by SSCP analysis followed by sequencing. A previously described missense mutation in the same codon (N47H; 606597.0011) was reported by Hoth et al. (1993) in association with Waardenburg syndrome type III (148820). A substitution of a basic amino acid for asparagine at residue 47, conserved in all known murine Pax and human PAX genes, appears to have a more drastic effect on the phenotype than missense, frameshift, and deletion mutations of PAX3 that cause Waardenburg syndrome type I. Among 24 unrelated individuals with WS1 mutations, no 2 had been found to have the same point mutation in the protein-coding region of PAX3, nor did they have a change in the same codon (Farrer et al., 1994). The finding in CDHS provided the first opportunity to compare molecular pathology and clinical heterogeneity between 2 different mutations in the same codon for PAX3. </p><p>In a patient with possible CDHS, Gad et al. (2008) performed sequencing of all 9 exons and 20 bp of the flanking introns of the PAX3 gene and did not identify any mutations. The presence of heterozygosity for a PAX3 polymorphism ruled out a full gene deletion, but a partial deletion remained a possible disease mechanism in this patient. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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<p />
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Asher, J. H., Jr., Sommer, A., Morrell, R., Friedman, T. B.
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<strong>Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.</strong>
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Hum. Mutat. 7: 30-35, 1996.
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[PubMed: 8664898]
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[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1996)7:1<30::AID-HUMU4>3.0.CO;2-T]
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Farrer, L. A., Arnos, K. S., Asher, J. H., Jr., Baldwin, C. T., Diehl, S. R., Friedman, T. B., Greenberg, J., Grundfast, K. M., Hoth, C., Lalwani, A. K., Landa, B., Leverton, K., Milunsky, A., Morell, R., Nance, W. E., Newton, V., Ramesar, R., Rao, V. S., Reynolds, J. E., San Agustin, T. B., Wilcox, E. R., Winship, I., Read, A. P.
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<strong>Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.</strong>
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Am. J. Hum. Genet. 55: 728-737, 1994.
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[PubMed: 7942851]
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<p class="mim-text-font">
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Gad, A., Laurino, M., Maravilla, K. R., Matsushita, M., Raskind, W. H.
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<strong>Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?</strong>
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Am. J. Med. Genet. 146A: 1880-1885, 2008.
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[PubMed: 18553554]
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[Full Text: https://doi.org/10.1002/ajmg.a.32402]
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Goulding, M. D., Chalepakis, G., Deutsch, U., Erselius, J. R., Gruss, P.
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<strong>Pax-3, a novel murine DNA binding protein expressed during early neurogenesis.</strong>
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EMBO J. 10: 1135-1147, 1991.
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[PubMed: 2022185]
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[Full Text: https://doi.org/10.1002/j.1460-2075.1991.tb08054.x]
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Hoth, C. F., Milunsky, A., Lipsky, N., Sheffer, R., Clarren, S. K., Baldwin, C. T.
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<strong>Mutations in the paired domain of the human PAX3 gene causes Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).</strong>
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Am. J. Hum. Genet. 52: 455-462, 1993.
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[PubMed: 8447316]
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<p class="mim-text-font">
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Sommer, A., Bartholomew, D. W.
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<strong>Craniofacial-deafness-hand syndrome revisited.</strong>
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Am. J. Med. Genet. 123A: 91-94, 2003.
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[PubMed: 14556253]
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[Full Text: https://doi.org/10.1002/ajmg.a.20501]
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<p class="mim-text-font">
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Sommer, A., Young-Wee, T., Frye, T.
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<strong>Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness.</strong>
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Am. J. Med. Genet. 15: 71-77, 1983.
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[PubMed: 6859126]
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[Full Text: https://doi.org/10.1002/ajmg.1320150109]
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Anne M. Stumpf - updated : 02/27/2020<br>Victor A. McKusick - updated : 1/14/2004
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Victor A. McKusick : 6/4/1986
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