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<title>
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Entry
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- #124500 - VOHWINKEL SYNDROME; VOWNKL
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- OMIM
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</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=(VOHWINKEL SYNDROME) OR (GJB2)" 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=2190&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://www.diseaseinfosearch.org/x/7413" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=124500[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=494" 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/dec0c757-c580-4332-ba4a-72c7ea07fa0a/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 style="display: table-cell;">Animal Models</div>
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</a>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111339" 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/124500" 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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</span>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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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> 24559001<br />
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<strong>ORPHA:</strong> 494<br />
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<strong>DO:</strong> 0111339<br />
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">ICD+</a>
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<div>
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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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124500
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</span>
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</span>
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</div>
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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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VOHWINKEL SYNDROME; VOWNKL
|
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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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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES<br />
|
|
MUTILATING KERATODERMA<br />
|
|
KERATODERMA HEREDITARIUM MUTILANS; KHM
|
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</span>
|
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</h4>
|
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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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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<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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<tr class="active">
|
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<th>
|
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Location
|
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</th>
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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/13/15?start=-3&limit=10&highlight=15">
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13q12.11
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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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Vohwinkel 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/124500"> 124500 </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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GJB2
|
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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/121011"> 121011 </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>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/124500" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<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')">
|
|
<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">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/124500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/124500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<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 />
|
|
</div>
|
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|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
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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;">
|
|
|
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<div>
|
|
<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 />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hearing loss, mild to moderate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/21451000119101" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">21451000119101</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852284&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852284</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H91.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Circular constrictions of digits (pseudoainhum) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852285&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852285</a>]</span><br /> -
|
|
Autoamputation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833222&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833222</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001218</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Papular keratoderma, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852286&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852286</a>]</span><br /> -
|
|
Honeycomb keratoderma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852287&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852287</a>]</span><br /> -
|
|
Starfish-like acral keratoses (knuckles) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852288&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852288</a>]</span><br /> -
|
|
Pseudoainhum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/19988008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">19988008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/238879003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">238879003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0334166&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0334166</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009775" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009775</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009775" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009775</a>]</span><br /> -
|
|
Autoamputation of digits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852289&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852289</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007460</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007460</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
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|
|
</div>
|
|
|
|
</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Allelic to deafness, autosomal recessive 1, (<a href="/entry/220290">220290</a>), deafness, autosomal dominant 3, (<a href="/entry/601544">601544</a>), keratoderma, palmoplantar, with deafness, (<a href="/entry/148350">148350</a>), keratitis-ichthyosis-deafness syndrome, (<a href="/entry/148210">148210</a>), hystrix-like ichthyosis with deafness, (<a href="/entry/602540">602540</a>), Bart-Pumphrey syndrome, (<a href="/entry/149200">149200</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the gap junction protein, beta-2, 26kD gene (GJB2, <a href="/entry/121011#0012">121011.0012</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
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</div>
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
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|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
|
|
|
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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|
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<span class="mim-font">
|
|
<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.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</span>
|
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</h4>
|
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|
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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 Vohwinkel syndrome (VOWNKL) is caused by heterozygous mutation in the gene encoding connexin-26 (GJB2; <a href="/entry/121011">121011</a>) on chromosome 13q12.</p><p>Keratitis-ichthyosis-deafness syndrome (<a href="/entry/148210">148210</a>) is also caused by mutation in GJB2; another allelic disorder is palmoplantar keratoderma with deafness (<a href="/entry/148350">148350</a>).</p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
|
|
</div>
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<div>
|
|
<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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|
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<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
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<p>Classic Vohwinkel syndrome is characterized by papular and honeycomb keratoderma associated with constrictions of digits leading to autoamputation, distinctive starfish-like acral keratoses, and moderate degrees of sensorineural deafness (summary by <a href="#9" class="mim-tip-reference" title="Maestrini, E., Korge, B. P., Ocana-Sierra, J., Calzolari, E., Cambiaghi, S., Scudder, P. M., Hovnanian, A., Monaco, A. P., Munro, C. S. <strong>A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.</strong> Hum. Molec. Genet. 8: 1237-1243, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369869</a>] [<a href="https://doi.org/10.1093/hmg/8.7.1237" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10369869">Maestrini et al., 1999</a>) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369869" 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 variant form of Vohwinkel syndrome, mutilating keratoderma with ichthyosis (<a href="/entry/604117">604117</a>), is caused by mutation in the gene for loricrin (LOR; <a href="/entry/152445">152445</a>) on chromosome 1q21. A form of mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome; <a href="/entry/614594">614594</a>) is caused by mutation in the TRPV3 gene (<a href="/entry/607066">607066</a>) on chromosome 17p13.2.</p>
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<p><a href="#11" class="mim-tip-reference" title="Nockemann, P. F. <strong>Erbliche Hornhautverdickung mit Schnuerfurchen an Fingern und Zehen und Innenohrschwerhoerigkeit.</strong> Med. Welt. 2: 1894-1900, 1961."None>Nockemann (1961)</a> presented 4 generations of a family in which 4 members had hyperkeratosis, constrictions on the fingers and toes (pseudoainhum), and congenital deafness. The proband, a 20-year-old man, developed hyperkeratosis of the palms and soles beginning about 2 years of age, followed by involvement of his knees and elbows. Rubbing produced thickenings elsewhere. A few years later there developed ring-shaped furrows of the skin in the region of the middle of the 5 fingers, followed by involvement of the toes. The proband had congenital deafness. The author presented 3 other family members in 4 generations with similar findings. They were all deaf and mute. <a href="#5" class="mim-tip-reference" title="Drummond, M. <strong>A case of unusual skin disease.</strong> Irish J. Med. Sci. 8: 85-86, 1939."None>Drummond (1939)</a> presented the case of a 19-year-old deaf-mute girl with constricting bands around three fingers of each hand. The bands were a quarter inch wide, completely encircling each finger. Marked hyperkeratosis of the palms was also present, together with epidermal thickening over the knuckles and knees.</p><p><a href="#6" class="mim-tip-reference" title="Gibbs, R. C., Frank, S. B. <strong>Keratoma hereditaria mutilans (Vohwinkel): differentiating features of conditions with constriction of digits.</strong> Arch. Derm. 94: 619-625, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5960366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5960366</a>] [<a href="https://doi.org/10.1001/archderm.94.5.619" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5960366">Gibbs and Frank (1966)</a> described affected father and daughter, but were likely mistaken in calling it a variant of mal de Meleda, a recessive disorder. The presence of digital constrictions and the absence of leukonychia appear to distinguish this disorder from that listed under knuckle pads, leukonychia, and sensorineural deafness (<a href="/entry/149200">149200</a>). The hyperkeratosis and deafness reported by <a href="#10" class="mim-tip-reference" title="Morris, J., Ackerman, A. B., Koblenzer, P. J. <strong>Generalized spiny hyperkeratosis, universal alopecia, and deafness: a previously undescribed syndrome.</strong> Arch. Derm. 100: 692-698, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5365216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5365216</a>]" pmid="5365216">Morris et al. (1969)</a> is probably a distinct entity, as they suggested. Their patient was an isolated case. <a href="#1" class="mim-tip-reference" title="Aksu, F., Mietens, C. <strong>Keratopachydermie mit Schnuerfurchen in Fingern und Zehen und Innenohrschwerhoerigkeit.</strong> Paediat. Prox. 23: 303-310, 1980."None>Aksu and Mietens (1980)</a> published particularly useful clinical photographs in color, together with a 3-generation pedigree. The lesions on the knees and extensor surfaces of the hands and feet resembled xanthomata superficially. The disorder was first reported by <a href="#14" class="mim-tip-reference" title="Vohwinkel, K. H. <strong>Keratoma hereditarium mutilans.</strong> Arch. Derm. Syph. 158: 354-364, 1929."None>Vohwinkel (1929)</a> in a 24-year-old man and his 14-month-old daughter. <a href="#13" class="mim-tip-reference" title="Sensi, A., Bettoli, V., Zampino, M. R., Gandini, E., Calzolari, E. <strong>Vohwinkel syndrome (mutilating keratoderma) associated with craniofacial anomalies.</strong> Am. J. Med. Genet. 50: 201-203, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8010352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8010352</a>] [<a href="https://doi.org/10.1002/ajmg.1320500212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8010352">Sensi et al. (1994)</a> referred to the condition as Vohwinkel syndrome, or mutilating keratoderma. They described a patient who had pseudoainhum of the fifth fingers, palmar and plantar hyperkeratosis, and bilateral symmetric hearing loss of cochlear origin. Cleft palate had been repaired in childhood. <a href="#13" class="mim-tip-reference" title="Sensi, A., Bettoli, V., Zampino, M. R., Gandini, E., Calzolari, E. <strong>Vohwinkel syndrome (mutilating keratoderma) associated with craniofacial anomalies.</strong> Am. J. Med. Genet. 50: 201-203, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8010352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8010352</a>] [<a href="https://doi.org/10.1002/ajmg.1320500212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8010352">Sensi et al. (1994)</a> tabulated 12 autosomal dominant and 5 autosomal recessive forms of palmoplantar keratosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5960366+5365216+8010352" 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="#12" class="mim-tip-reference" title="Peris, K., Salvati, E. F., Torlone, G., Chimenti, S. <strong>Keratoderma hereditarium mutilans (Vohwinkel's syndrome) associated with congenital deaf-mutism.</strong> Brit. J. Derm. 132: 617-620, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7748756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7748756</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1995.tb08721.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7748756">Peris et al. (1995)</a> reported the case of a 28-year-old woman who presented with KHM associated with congenital deaf-mutism. She had bilateral, diffuse thickening of the palms and soles, and narrow, fibrous-constricting bands at the proximal interphalangeal joints of both little fingers and the index finger of the right hand. Her parents, both deceased, were deaf but were said not to have any cutaneous disorder. However, her paternal grandfather had deaf-mutism and palmoplantar keratoderma mutilans. The hyperkeratosis of the palms and soles had been present in the proposita since the age of 5 and had progressed in severity into her teenage years. Massive, hoof-like hyperkeratosis involved the heels and the Achilles tendon area, and this developed when she was 15 years old. The nails, hair, and mucous membranes were normal. The hyperkeratosis and constricting bands improved on therapy with etretinate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7748756" 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="#4" class="mim-tip-reference" title="de Zwart-Storm, E. A., van Geel, M., Veysey, E., Burge, S., Cooper, S., Steijlen, P. M., Martin, P. E., van Steensel, M. A. M. <strong>A novel missense mutation in GJB2, tyr65his, causes severe Vohwinkel syndrome.</strong> Brit. J. Derm. 164: 197-199, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20854437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20854437</a>] [<a href="https://doi.org/10.1111/j.1365-2133.2010.10058.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20854437">De Zwart-Storm et al. (2011)</a> studied a 38-year-old Zimbabwean man with a 30-year history of thickened skin over the palms and soles as well as congenital sensory hearing impairment. Examination revealed palmoplantar keratoderma with hyperkeratotic papules over the knuckles and dorsum of the toes. He also had autoamputations of the fifth digits of the hands and feet, with pseudoainhum around the proximal interphalangeal joints of all remaining fingers. Similar features were reportedly present in other family members, but none were available for examination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20854437" 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 VOWNKL in the patients reported by <a href="#9" class="mim-tip-reference" title="Maestrini, E., Korge, B. P., Ocana-Sierra, J., Calzolari, E., Cambiaghi, S., Scudder, P. M., Hovnanian, A., Monaco, A. P., Munro, C. S. <strong>A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.</strong> Hum. Molec. Genet. 8: 1237-1243, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369869</a>] [<a href="https://doi.org/10.1093/hmg/8.7.1237" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10369869">Maestrini et al. (1999)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369869" 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><a href="#9" class="mim-tip-reference" title="Maestrini, E., Korge, B. P., Ocana-Sierra, J., Calzolari, E., Cambiaghi, S., Scudder, P. M., Hovnanian, A., Monaco, A. P., Munro, C. S. <strong>A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.</strong> Hum. Molec. Genet. 8: 1237-1243, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369869</a>] [<a href="https://doi.org/10.1093/hmg/8.7.1237" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10369869">Maestrini et al. (1999)</a> identified a heterozygous missense mutation in the GJB2 gene (D66H; <a href="/entry/121011#0012">121011.0012</a>) in affected members of a large British pedigree with Vohwinkel syndrome, and subsequently in affected individuals from 2 unrelated Spanish and Italian pedigrees. In these cases, mutilating keratoderma was associated with sensorineural deafness but not with ichthyosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369869" 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 38-year-old Zimbabwean man with severe Vohwinkel syndrome, <a href="#4" class="mim-tip-reference" title="de Zwart-Storm, E. A., van Geel, M., Veysey, E., Burge, S., Cooper, S., Steijlen, P. M., Martin, P. E., van Steensel, M. A. M. <strong>A novel missense mutation in GJB2, tyr65his, causes severe Vohwinkel syndrome.</strong> Brit. J. Derm. 164: 197-199, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20854437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20854437</a>] [<a href="https://doi.org/10.1111/j.1365-2133.2010.10058.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20854437">de Zwart-Storm et al. (2011)</a> analyzed the GJB2 gene and identified heterozygosity for a missense mutation (Y65H; <a href="/entry/121011#0041">121011.0041</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20854437" 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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<a href="#Camisa1988" class="mim-tip-reference" title="Camisa, C., Hessel, A., Rossana, C., Parks, A. <strong>Autosomal dominant keratoderma, ichthyosiform dermatosis and elevated serum beta-glucuronidase.</strong> Dermatologica 177: 341-347, 1988.">Camisa et al. (1988)</a>; <a href="#Camisa1984" class="mim-tip-reference" title="Camisa, C., Rossana, C. <strong>Variant of keratoderma hereditaria mutilans (Vohwinkel's syndrome): treatment with orally administered isotretinoin.</strong> Arch. Derm. 120: 1323-1328, 1984.">Camisa and Rossana (1984)</a>; <a href="#Hyde1901" class="mim-tip-reference" title="Hyde, J. N., Montgomery, F. H. <strong>A Practical Treatise of Diseases of the Skin. (6th ed.)</strong> Philadelphia: Lea Brothers and Co. (pub.) 1901.">Hyde and Montgomery
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2976687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2976687</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2976687" 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/10.1159/000248604" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Camisa1984" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Camisa, C., Rossana, C.
|
|
<strong>Variant of keratoderma hereditaria mutilans (Vohwinkel's syndrome): treatment with orally administered isotretinoin.</strong>
|
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Arch. Derm. 120: 1323-1328, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6237617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6237617</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6237617" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="de Zwart-Storm2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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de Zwart-Storm, E. A., van Geel, M., Veysey, E., Burge, S., Cooper, S., Steijlen, P. M., Martin, P. E., van Steensel, M. A. M.
|
|
<strong>A novel missense mutation in GJB2, tyr65his, causes severe Vohwinkel syndrome.</strong>
|
|
Brit. J. Derm. 164: 197-199, 2011.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20854437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20854437</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20854437" 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/10.1111/j.1365-2133.2010.10058.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Drummond1939" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Drummond, M.
|
|
<strong>A case of unusual skin disease.</strong>
|
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Irish J. Med. Sci. 8: 85-86, 1939.
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</p>
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</div>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Gibbs1966" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Gibbs, R. C., Frank, S. B.
|
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<strong>Keratoma hereditaria mutilans (Vohwinkel): differentiating features of conditions with constriction of digits.</strong>
|
|
Arch. Derm. 94: 619-625, 1966.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5960366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5960366</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5960366" 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/10.1001/archderm.94.5.619" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Hyde1901" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hyde, J. N., Montgomery, F. H.
|
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<strong>A Practical Treatise of Diseases of the Skin. (6th ed.)</strong>
|
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Philadelphia: Lea Brothers and Co. (pub.) 1901.
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<a id="8" class="mim-anchor"></a>
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<a id="Korge1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Korge, B. P., Ishida-Yamamoto, A., Punter, C., Dopping-Hepenstal, P. J. C., Iizuka, H., Stephenson, A., Eady, R. A. J., Munro, C. S.
|
|
<strong>Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis.</strong>
|
|
J. Invest. Derm. 109: 604-610, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9326398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9326398</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9326398" 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/10.1111/1523-1747.ep12337534" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Maestrini1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Maestrini, E., Korge, B. P., Ocana-Sierra, J., Calzolari, E., Cambiaghi, S., Scudder, P. M., Hovnanian, A., Monaco, A. P., Munro, C. S.
|
|
<strong>A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.</strong>
|
|
Hum. Molec. Genet. 8: 1237-1243, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369869</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369869" 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/10.1093/hmg/8.7.1237" target="_blank">Full Text</a>]
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Morris1969" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Morris, J., Ackerman, A. B., Koblenzer, P. J.
|
|
<strong>Generalized spiny hyperkeratosis, universal alopecia, and deafness: a previously undescribed syndrome.</strong>
|
|
Arch. Derm. 100: 692-698, 1969.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5365216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5365216</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5365216" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Nockemann1961" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nockemann, P. F.
|
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<strong>Erbliche Hornhautverdickung mit Schnuerfurchen an Fingern und Zehen und Innenohrschwerhoerigkeit.</strong>
|
|
Med. Welt. 2: 1894-1900, 1961.
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</p>
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</div>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Peris1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Peris, K., Salvati, E. F., Torlone, G., Chimenti, S.
|
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<strong>Keratoderma hereditarium mutilans (Vohwinkel's syndrome) associated with congenital deaf-mutism.</strong>
|
|
Brit. J. Derm. 132: 617-620, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7748756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7748756</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7748756" 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/10.1111/j.1365-2133.1995.tb08721.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Sensi1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sensi, A., Bettoli, V., Zampino, M. R., Gandini, E., Calzolari, E.
|
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<strong>Vohwinkel syndrome (mutilating keratoderma) associated with craniofacial anomalies.</strong>
|
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Am. J. Med. Genet. 50: 201-203, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8010352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8010352</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8010352" 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.1320500212" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Vohwinkel1929" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vohwinkel, K. H.
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<strong>Keratoma hereditarium mutilans.</strong>
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Arch. Derm. Syph. 158: 354-364, 1929.
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</p>
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</ol>
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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="contributors" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 08/01/2016
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 4/27/2012<br>Ada Hamosh - updated : 8/11/1999<br>Victor A. McKusick - updated : 7/22/1999
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</span>
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</div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 08/22/2023
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</span>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/13/2023<br>carol : 06/09/2023<br>carol : 02/19/2020<br>carol : 08/01/2016<br>carol : 08/01/2016<br>carol : 07/09/2016<br>carol : 5/27/2016<br>carol : 4/27/2012<br>ckniffin : 1/11/2011<br>alopez : 3/13/2001<br>mcapotos : 12/9/1999<br>carol : 8/11/1999<br>terry : 7/22/1999<br>alopez : 7/7/1997<br>terry : 5/14/1996<br>terry : 5/13/1996<br>terry : 5/6/1996<br>mark : 6/13/1995<br>davew : 8/18/1994<br>mimadm : 6/25/1994<br>terry : 4/26/1994<br>carol : 4/13/1994<br>supermim : 3/16/1992
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</span>
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>#</strong> 124500
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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VOHWINKEL SYNDROME; VOWNKL
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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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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES<br />
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MUTILATING KERATODERMA<br />
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KERATODERMA HEREDITARIUM MUTILANS; KHM
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</span>
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</h4>
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</div>
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<div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 24559001;
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<strong>ORPHA:</strong> 494;
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<strong>DO:</strong> 0111339;
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</span>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
|
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<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 small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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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>
|
|
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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13q12.11
|
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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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Vohwinkel syndrome
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<span class="mim-font">
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124500
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Autosomal dominant
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3
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GJB2
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<span class="mim-font">
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121011
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Vohwinkel syndrome (VOWNKL) is caused by heterozygous mutation in the gene encoding connexin-26 (GJB2; 121011) on chromosome 13q12.</p><p>Keratitis-ichthyosis-deafness syndrome (148210) is also caused by mutation in GJB2; another allelic disorder is palmoplantar keratoderma with deafness (148350).</p>
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<strong>Description</strong>
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<p>Classic Vohwinkel syndrome is characterized by papular and honeycomb keratoderma associated with constrictions of digits leading to autoamputation, distinctive starfish-like acral keratoses, and moderate degrees of sensorineural deafness (summary by Maestrini et al., 1999) </p><p>A variant form of Vohwinkel syndrome, mutilating keratoderma with ichthyosis (604117), is caused by mutation in the gene for loricrin (LOR; 152445) on chromosome 1q21. A form of mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome; 614594) is caused by mutation in the TRPV3 gene (607066) on chromosome 17p13.2.</p>
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<strong>Clinical Features</strong>
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<p>Nockemann (1961) presented 4 generations of a family in which 4 members had hyperkeratosis, constrictions on the fingers and toes (pseudoainhum), and congenital deafness. The proband, a 20-year-old man, developed hyperkeratosis of the palms and soles beginning about 2 years of age, followed by involvement of his knees and elbows. Rubbing produced thickenings elsewhere. A few years later there developed ring-shaped furrows of the skin in the region of the middle of the 5 fingers, followed by involvement of the toes. The proband had congenital deafness. The author presented 3 other family members in 4 generations with similar findings. They were all deaf and mute. Drummond (1939) presented the case of a 19-year-old deaf-mute girl with constricting bands around three fingers of each hand. The bands were a quarter inch wide, completely encircling each finger. Marked hyperkeratosis of the palms was also present, together with epidermal thickening over the knuckles and knees.</p><p>Gibbs and Frank (1966) described affected father and daughter, but were likely mistaken in calling it a variant of mal de Meleda, a recessive disorder. The presence of digital constrictions and the absence of leukonychia appear to distinguish this disorder from that listed under knuckle pads, leukonychia, and sensorineural deafness (149200). The hyperkeratosis and deafness reported by Morris et al. (1969) is probably a distinct entity, as they suggested. Their patient was an isolated case. Aksu and Mietens (1980) published particularly useful clinical photographs in color, together with a 3-generation pedigree. The lesions on the knees and extensor surfaces of the hands and feet resembled xanthomata superficially. The disorder was first reported by Vohwinkel (1929) in a 24-year-old man and his 14-month-old daughter. Sensi et al. (1994) referred to the condition as Vohwinkel syndrome, or mutilating keratoderma. They described a patient who had pseudoainhum of the fifth fingers, palmar and plantar hyperkeratosis, and bilateral symmetric hearing loss of cochlear origin. Cleft palate had been repaired in childhood. Sensi et al. (1994) tabulated 12 autosomal dominant and 5 autosomal recessive forms of palmoplantar keratosis. </p><p>Peris et al. (1995) reported the case of a 28-year-old woman who presented with KHM associated with congenital deaf-mutism. She had bilateral, diffuse thickening of the palms and soles, and narrow, fibrous-constricting bands at the proximal interphalangeal joints of both little fingers and the index finger of the right hand. Her parents, both deceased, were deaf but were said not to have any cutaneous disorder. However, her paternal grandfather had deaf-mutism and palmoplantar keratoderma mutilans. The hyperkeratosis of the palms and soles had been present in the proposita since the age of 5 and had progressed in severity into her teenage years. Massive, hoof-like hyperkeratosis involved the heels and the Achilles tendon area, and this developed when she was 15 years old. The nails, hair, and mucous membranes were normal. The hyperkeratosis and constricting bands improved on therapy with etretinate. </p><p>De Zwart-Storm et al. (2011) studied a 38-year-old Zimbabwean man with a 30-year history of thickened skin over the palms and soles as well as congenital sensory hearing impairment. Examination revealed palmoplantar keratoderma with hyperkeratotic papules over the knuckles and dorsum of the toes. He also had autoamputations of the fifth digits of the hands and feet, with pseudoainhum around the proximal interphalangeal joints of all remaining fingers. Similar features were reportedly present in other family members, but none were available for examination. </p>
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<strong>Mapping</strong>
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<p>Korge et al. (1997) studied 2 families, one with starfish keratoses with deafness but no ichthyosis, and the other with keratoderma and ichthyosis. They demonstrated that the classic and variant forms of Vohwinkel syndrome are clinically and ultrastructurally distinct and that the classic form does not map to the loricrin locus (152445) on chromosome 1q21. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of VOWNKL in the patients reported by Maestrini et al. (1999) was consistent with autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>Maestrini et al. (1999) identified a heterozygous missense mutation in the GJB2 gene (D66H; 121011.0012) in affected members of a large British pedigree with Vohwinkel syndrome, and subsequently in affected individuals from 2 unrelated Spanish and Italian pedigrees. In these cases, mutilating keratoderma was associated with sensorineural deafness but not with ichthyosis. </p><p>In a 38-year-old Zimbabwean man with severe Vohwinkel syndrome, de Zwart-Storm et al. (2011) analyzed the GJB2 gene and identified heterozygosity for a missense mutation (Y65H; 121011.0041). </p>
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<strong>See Also:</strong>
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</h4>
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Camisa et al. (1988); Camisa and Rossana (1984); Hyde and Montgomery
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(1901)
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<strong>REFERENCES</strong>
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</h4>
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<p />
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<div>
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<ol>
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<p class="mim-text-font">
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Aksu, F., Mietens, C.
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<strong>Keratopachydermie mit Schnuerfurchen in Fingern und Zehen und Innenohrschwerhoerigkeit.</strong>
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Paediat. Prox. 23: 303-310, 1980.
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<p class="mim-text-font">
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Camisa, C., Hessel, A., Rossana, C., Parks, A.
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<strong>Autosomal dominant keratoderma, ichthyosiform dermatosis and elevated serum beta-glucuronidase.</strong>
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Dermatologica 177: 341-347, 1988.
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[PubMed: 2976687]
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[Full Text: https://doi.org/10.1159/000248604]
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Camisa, C., Rossana, C.
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<strong>Variant of keratoderma hereditaria mutilans (Vohwinkel's syndrome): treatment with orally administered isotretinoin.</strong>
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Arch. Derm. 120: 1323-1328, 1984.
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[PubMed: 6237617]
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de Zwart-Storm, E. A., van Geel, M., Veysey, E., Burge, S., Cooper, S., Steijlen, P. M., Martin, P. E., van Steensel, M. A. M.
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<strong>A novel missense mutation in GJB2, tyr65his, causes severe Vohwinkel syndrome.</strong>
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Brit. J. Derm. 164: 197-199, 2011.
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[PubMed: 20854437]
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[Full Text: https://doi.org/10.1111/j.1365-2133.2010.10058.x]
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Drummond, M.
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<strong>A case of unusual skin disease.</strong>
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Irish J. Med. Sci. 8: 85-86, 1939.
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<li>
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<p class="mim-text-font">
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Gibbs, R. C., Frank, S. B.
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<strong>Keratoma hereditaria mutilans (Vohwinkel): differentiating features of conditions with constriction of digits.</strong>
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Arch. Derm. 94: 619-625, 1966.
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[PubMed: 5960366]
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[Full Text: https://doi.org/10.1001/archderm.94.5.619]
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Hyde, J. N., Montgomery, F. H.
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<strong>A Practical Treatise of Diseases of the Skin. (6th ed.)</strong>
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Philadelphia: Lea Brothers and Co. (pub.) 1901.
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Korge, B. P., Ishida-Yamamoto, A., Punter, C., Dopping-Hepenstal, P. J. C., Iizuka, H., Stephenson, A., Eady, R. A. J., Munro, C. S.
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<strong>Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis.</strong>
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J. Invest. Derm. 109: 604-610, 1997.
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[PubMed: 9326398]
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[Full Text: https://doi.org/10.1111/1523-1747.ep12337534]
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Maestrini, E., Korge, B. P., Ocana-Sierra, J., Calzolari, E., Cambiaghi, S., Scudder, P. M., Hovnanian, A., Monaco, A. P., Munro, C. S.
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<strong>A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.</strong>
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Hum. Molec. Genet. 8: 1237-1243, 1999.
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[PubMed: 10369869]
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[Full Text: https://doi.org/10.1093/hmg/8.7.1237]
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Morris, J., Ackerman, A. B., Koblenzer, P. J.
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<strong>Generalized spiny hyperkeratosis, universal alopecia, and deafness: a previously undescribed syndrome.</strong>
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Arch. Derm. 100: 692-698, 1969.
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[PubMed: 5365216]
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Nockemann, P. F.
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<strong>Erbliche Hornhautverdickung mit Schnuerfurchen an Fingern und Zehen und Innenohrschwerhoerigkeit.</strong>
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Med. Welt. 2: 1894-1900, 1961.
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Peris, K., Salvati, E. F., Torlone, G., Chimenti, S.
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<strong>Keratoderma hereditarium mutilans (Vohwinkel's syndrome) associated with congenital deaf-mutism.</strong>
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Brit. J. Derm. 132: 617-620, 1995.
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[PubMed: 7748756]
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[Full Text: https://doi.org/10.1111/j.1365-2133.1995.tb08721.x]
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Sensi, A., Bettoli, V., Zampino, M. R., Gandini, E., Calzolari, E.
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<strong>Vohwinkel syndrome (mutilating keratoderma) associated with craniofacial anomalies.</strong>
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Am. J. Med. Genet. 50: 201-203, 1994.
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[PubMed: 8010352]
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[Full Text: https://doi.org/10.1002/ajmg.1320500212]
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Vohwinkel, K. H.
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<strong>Keratoma hereditarium mutilans.</strong>
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Arch. Derm. Syph. 158: 354-364, 1929.
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Marla J. F. O'Neill - updated : 08/01/2016<br>Marla J. F. O'Neill - updated : 4/27/2012<br>Ada Hamosh - updated : 8/11/1999<br>Victor A. McKusick - updated : 7/22/1999
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Victor A. McKusick : 6/4/1986
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alopez : 08/22/2023<br>carol : 07/13/2023<br>carol : 06/09/2023<br>carol : 02/19/2020<br>carol : 08/01/2016<br>carol : 08/01/2016<br>carol : 07/09/2016<br>carol : 5/27/2016<br>carol : 4/27/2012<br>ckniffin : 1/11/2011<br>alopez : 3/13/2001<br>mcapotos : 12/9/1999<br>carol : 8/11/1999<br>terry : 7/22/1999<br>alopez : 7/7/1997<br>terry : 5/14/1996<br>terry : 5/13/1996<br>terry : 5/6/1996<br>mark : 6/13/1995<br>davew : 8/18/1994<br>mimadm : 6/25/1994<br>terry : 4/26/1994<br>carol : 4/13/1994<br>supermim : 3/16/1992
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