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- #129500 - CLOUSTON SYNDROME
- OMIM
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<span class="h4">#129500</span>
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/129500"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS305100"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#contributors"><strong>Contributors</strong></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=CLOUSTON SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=991&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 id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:14693" 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>
<div><a href="http://www.informatics.jax.org/disease/129500" 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>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<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.">
&nbsp;
</span>
</span>
</div>
<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">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 54209007<br />
<strong>ORPHA:</strong> 189<br />
<strong>DO:</strong> 14693<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
129500
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
CLOUSTON SYNDROME
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2<br />
ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT<br />
CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA<br />
ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/13/16?start=-3&limit=10&highlight=16">
13q12.11
</a>
</span>
</td>
<td>
<span class="mim-font">
Ectodermal dysplasia 2, Clouston type
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129500"> 129500 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
GJB6
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604418"> 604418 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/129500" 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>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS305100" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<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/129500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/129500" 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>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<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>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<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> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cataract <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193570009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193570009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247053007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247053007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H26.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/366.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086543</a>, <a href="https://bioportal.bioontology.org/search?q=C1690964&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1690964</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span><br /> -
Photophobia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409668002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409668002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246622003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246622003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.14" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.14</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000613" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000613</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000613" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000613</a>]</span><br /> -
Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br /> -
Conjunctivitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9826008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9826008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H10</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H10.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H10.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/372.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">372.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009763&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009763</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000509" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000509</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000509" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000509</a>]</span><br /> -
Blepharitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1231722004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1231722004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41446000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41446000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H01.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H01.00</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H01.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H01.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H01.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H01.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/373" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">373</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/373.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">373.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/373.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">373.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/373.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">373.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005741&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005741</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000498" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000498</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000498" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000498</a>]</span><br /> -
Sparse eyelashes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843300&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843300</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000653</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000653</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=09052e490ffb13e8a17a589d4a9208f0" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyelashes,Sparse-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=09052e490ffb13e8a17a589d4a9208f0&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Sparse eyebrows <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422441003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422441003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0578682&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0578682</a>, <a href="https://bioportal.bioontology.org/search?q=C1832446&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832446</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002223" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002223</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0045075" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0045075</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0045075" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0045075</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Teeth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Normal teeth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/162005007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">162005007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426482&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426482</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<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">
- Thick, dyskeratotic palms <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851859&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851859</a>]</span><br /> -
Clubbed digits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851860&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851860</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Thick, dyskeratotic soles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851861&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851861</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">
- Normal sweating capacity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1832453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832453</a>]</span><br /> -
Palmoplantar hyperkeratosis <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L85.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L85.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022596&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022596</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000972" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000972</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000972" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000972</a>]</span><br /> -
Hyperpigmentation (knuckles, elbows, axillae, areolae, pubic area) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851862&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851862</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4830009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4830009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49765009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49765009</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nails </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Onychodystrophy, severe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851863&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851863</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87065009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87065009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L60.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L60.3</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008404" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008404</a>]</span><br /> -
Onycholysis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/75789001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">75789001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L60.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L60.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085661&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085661</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001806" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001806</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001806" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001806</a>]</span><br /> -
Hypoplastic nails <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11375002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11375002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263523&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263523</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001792" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001792</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001792" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001792</a>]</span><br /> -
Thick, discolored nails <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851864&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851864</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Fine, brittle, slow-growing hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851865&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851865</a>]</span><br /> -
Total alopecia (females) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851866&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851866</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/19754005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">19754005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L63.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L63.0</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007418" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007418</a>]</span><br /> -
Focal alopecia to complete baldness (males) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851867&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851867</a>]</span><br /> -
Sparse eyelashes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843300&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843300</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000653</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000653</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=09052e490ffb13e8a17a589d4a9208f0" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyelashes,Sparse-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=09052e490ffb13e8a17a589d4a9208f0&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Sparse eyebrows <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422441003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422441003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0578682&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0578682</a>, <a href="https://bioportal.bioontology.org/search?q=C1832446&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832446</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002223" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002223</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0045075" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0045075</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0045075" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0045075</a>]</span><br /> -
Absent axillary hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859392&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859392</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002221" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002221</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002221" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002221</a>]</span><br /> -
Absent pubic hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859391&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859391</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002555" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002555</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002555" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002555</a>]</span><br /> -
Reduced tensile strength of hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851868&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851868</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002299" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002299</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002299" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002299</a>]</span><br /> -
Disorganized structure of hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851869&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851869</a>]</span><br /> -
Decreased cysteine and disulfide bonds in hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851870&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851870</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Complete penetrance with variable expressivity<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 mutations in the gap junction protein, beta-6 gene (GJB6, <a href="/entry/604418#0002">604418.0002</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Ectodermal dysplasia (select examples)
- <a href="/phenotypicSeries/PS305100">PS305100</a>
- 18 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/333?start=-3&limit=10&highlight=333"> 1p36.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617337"> ?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617337"> 617337 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616758"> KDF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616758"> 616758 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1824?start=-3&limit=10&highlight=1824"> 1q42.3-q43 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614941"> Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614941"> 614941 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606603"> EDARADD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606603"> 606603 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1824?start=-3&limit=10&highlight=1824"> 1q42.3-q43 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614940"> Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614940"> 614940 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606603"> EDARADD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606603"> 606603 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/550?start=-3&limit=10&highlight=550"> 2q13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129490"> Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129490"> 129490 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604095"> EDAR </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604095"> 604095 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/550?start=-3&limit=10&highlight=550"> 2q13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/224900"> Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/224900"> 224900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604095"> EDAR </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604095"> 604095 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1021?start=-3&limit=10&highlight=1021"> 2q35 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/257980"> Ectodermal dysplasia 16 (odontoonychodermal dysplasia) </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/257980"> 257980 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606268"> WNT10A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606268"> 606268 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/63?start=-3&limit=10&highlight=63"> 4p16.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/189500"> Ectodermal dysplasia 3, Witkop type </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/189500"> 189500 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142983"> MSX1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142983"> 142983 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/496?start=-3&limit=10&highlight=496"> 10q24.32-q25.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614927"> Ectodermal dysplasia 5, hair/nail type </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614927"> 614927 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614927"> ECTD5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614927"> 614927 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/620?start=-3&limit=10&highlight=620"> 11q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618535"> ?Ectodermal dysplasia 15, hypohidrotic/hair type </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618535"> 618535 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601891"> CST6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601891"> 601891 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/403?start=-3&limit=10&highlight=403"> 12q13.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602032"> Ectodermal dysplasia 4, hair/nail type </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602032"> 602032 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602767"> KRT85 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602767"> 602767 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/412?start=-3&limit=10&highlight=412"> 12q13.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614929"> ?Ectodermal dysplasia 7, hair/nail type </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614929"> 614929 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608248"> KRT74 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608248"> 608248 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/448?start=-3&limit=10&highlight=448"> 12q13.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614931"> Ectodermal dysplasia 9, hair/nail type </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614931"> 614931 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142976"> HOXC13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142976"> 142976 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/13/16?start=-3&limit=10&highlight=16"> 13q12.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129500"> Ectodermal dysplasia 2, Clouston type </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129500"> 129500 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604418"> GJB6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604418"> 604418 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/231?start=-3&limit=10&highlight=231"> 17p12-q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614928"> Ectodermal dysplasia 6, hair/nail type </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614928"> 614928 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614928"> ECTD6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614928"> 614928 </a>
</span>
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<a href="/geneMap/18/240?start=-3&limit=10&highlight=240"> 18q22.1-q22.3 </a>
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<span class="mim-font">
<a href="/entry/602401"> Ectodermal dysplasia 8, hair/tooth/nail type </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<a href="/entry/602401"> 602401 </a>
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<a href="/entry/602401"> ECTD8 </a>
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<a href="/entry/602401"> 602401 </a>
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<a href="/geneMap/21/162?start=-3&limit=10&highlight=162"> 21q22.3 </a>
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<a href="/entry/618180"> Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<a href="/entry/618180"> 618180 </a>
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<a href="/entry/612920"> TSPEAR </a>
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<span class="mim-font">
<a href="/entry/612920"> 612920 </a>
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<a href="/geneMap/22/144?start=-3&limit=10&highlight=144"> 22q12.1 </a>
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<a href="/entry/617392"> Ectodermal dysplasia 13, hair/tooth type </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/617392"> 617392 </a>
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<a href="/entry/609898"> KREMEN1 </a>
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<span class="mim-font">
<a href="/entry/609898"> 609898 </a>
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<span class="mim-font">
<a href="/geneMap/X/387?start=-3&limit=10&highlight=387"> Xq13.1 </a>
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<span class="mim-font">
<a href="/entry/305100"> Ectodermal dysplasia 1, hypohidrotic, X-linked </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/305100"> 305100 </a>
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<span class="mim-font">
<a href="/entry/300451"> EDA </a>
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<span class="mim-font">
<a href="/entry/300451"> 300451 </a>
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<p>A number sign (#) is used with this entry because Clouston syndrome is caused by heterozygous mutation in the GJB6 gene (<a href="/entry/604418">604418</a>), which encodes connexin-30, on chromosome 13q12.</p>
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<p>The main features of Clouston syndrome are dystrophy of the nails that tend to be hypoplastic and deformed with increased susceptibility to paronychial infections, defects of the hair that range from brittleness and slow growth rate to total alopecia, and moderate to severe palmoplantar hyperkeratosis with reduced keratinocyte desquamation (summary by <a href="#13" class="mim-tip-reference" title="Kibar, Z., Der Kaloustian, V. M., Brais, B., Hani, V., Fraser, F. C., Rouleau, G. A. &lt;strong&gt;The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q.&lt;/strong&gt; Hum. Molec. Genet. 5: 543-547, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8845850/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8845850&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/5.4.543&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8845850">Kibar et al., 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8845850" 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="#3" class="mim-tip-reference" title="Clouston, H. R. &lt;strong&gt;A hereditary ectodermal dystrophy.&lt;/strong&gt; Canad. Med. Assoc. J. 21: 18-31, 1929.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20317409/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20317409&lt;/a&gt;]" pmid="20317409">Clouston (1929)</a> described members of a large French Canadian family with a form of ectodermal dysplasia affecting predominantly the nails, hair, and skin. Sweating was normal. Fingernails and toenails were short, thick, and slow growing; in some cases the nails were absent. Hair was fine, dry, and brittle and in some cases absent; eyelashes and eyebrows were also affected. Patients had clubbing of fingers, palmar hyperkeratosis, and hyperpigmentation of the skin. Although 'as a whole' those affected had 'poor teeth,' dentition was 'mostly normal.' Several other reports described an extensive kindred of French extraction that migrated to Canada, Scotland, and northern United States (<a href="#4" class="mim-tip-reference" title="Clouston, H. R. &lt;strong&gt;The major forms of hereditary ectodermal dysplasia.&lt;/strong&gt; Canad. Med. Assoc. J. 40: 1-7, 1939.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20321205/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20321205&lt;/a&gt;]" pmid="20321205">Clouston, 1939</a>; <a href="#11" class="mim-tip-reference" title="Joachim, H. &lt;strong&gt;Hereditary dystrophy of the hair and nails in six generations.&lt;/strong&gt; Ann. Intern. Med. 10: 400-402, 1936."None>Joachim, 1936</a>; <a href="#17" class="mim-tip-reference" title="MacKay, H., Davidson, A. M. &lt;strong&gt;Congenital ectodermal dysplasia.&lt;/strong&gt; Brit. J. Derm. 41: 1-5, 1929."None>MacKay and Davidson, 1929</a>; <a href="#24" class="mim-tip-reference" title="Wilkey, W. D., Stevenson, G. H. &lt;strong&gt;A family with inherited ectodermal dystrophy.&lt;/strong&gt; Canad. Med. Assoc. J. 53: 226-230, 1945.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20323542/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20323542&lt;/a&gt;]" pmid="20323542">Wilkey and Stevenson, 1945</a>). In a large French Canadian family living in rural New Hampshire and Vermont, <a href="#6" class="mim-tip-reference" title="Gagnon, C. A., Berg, S. Z., Moeschler, J. B. &lt;strong&gt;Clouston hydrotic (sic) ectodermal dysplasia: report of a large New England family. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 45 (suppl.): A121, 1989."None>Gagnon et al. (1989)</a> found that all affected females had complete balding while the males had variable expression ranging from light blond hair with focal alopecia to total balding. All females wore wigs beginning in childhood. Presumably this kindred had genealogic connections to those studied by Clouston (<a href="#3" class="mim-tip-reference" title="Clouston, H. R. &lt;strong&gt;A hereditary ectodermal dystrophy.&lt;/strong&gt; Canad. Med. Assoc. J. 21: 18-31, 1929.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20317409/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20317409&lt;/a&gt;]" pmid="20317409">1929</a>, <a href="#4" class="mim-tip-reference" title="Clouston, H. R. &lt;strong&gt;The major forms of hereditary ectodermal dysplasia.&lt;/strong&gt; Canad. Med. Assoc. J. 40: 1-7, 1939.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20321205/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20321205&lt;/a&gt;]" pmid="20321205">1939</a>) and others. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20321205+20323542+20317409" 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="#20" class="mim-tip-reference" title="Rajagopalan, K., Tay, C. H. &lt;strong&gt;Hidrotic ectodermal dysplasia: study of a large Chinese pedigree.&lt;/strong&gt; Arch. Derm. 113: 481-484, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/139851/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;139851&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archderm.113.4.481&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="139851">Rajagopalan and Tay (1977)</a> described autosomal dominant hidrotic ectodermal dysplasia in 15 members in 5 generations of a Chinese family in Malaysia. All 15 had typical nail, hair, and skin lesions. Scalp alopecia was more extensive in females, whereas keratoderma of the palms and soles was more notable in males. <a href="#22" class="mim-tip-reference" title="Stevens, H. P., Choon, S. E., Hennies, H. C., Kelsell, D. P. &lt;strong&gt;Evidence for a single genetic locus in Clouston&#x27;s hidrotic ectodermal dysplasia. (Letter)&lt;/strong&gt; Brit. J. Derm. 140: 963-991, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10354044/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10354044&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1365-2133.1999.02837.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10354044">Stevens et al. (1999)</a> examined 14 affected members over 3 generations of the family originally described by <a href="#20" class="mim-tip-reference" title="Rajagopalan, K., Tay, C. H. &lt;strong&gt;Hidrotic ectodermal dysplasia: study of a large Chinese pedigree.&lt;/strong&gt; Arch. Derm. 113: 481-484, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/139851/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;139851&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archderm.113.4.481&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="139851">Rajagopalan and Tay (1977)</a>. A diffuse warty palmoplantar keratoderma developed over the entire sole and the hypothenar eminence of the hands. The skin changes extended to involve the periungual regions of the nails. The nail changes were variable and ranged from discolored, thickened, and dystrophic nails to hypoplasia with a classic cone-shaped or triangular nail. The distal ends of the fingers were thickened and the digits appeared clubbed. Some developed a severe alopecia in infancy, whereas in others it occurred later. The eyebrows, eyelashes, and pubic and axillary hair were almost invariably involved and were either very sparse or lost completely. Sweating, teeth, breast development, and oral mucosa all appeared normal. The authors noted that multiple cutaneous squamous cell carcinomas of the palmar tissue and nail bed had been reported in the Canadian family (<a href="#2" class="mim-tip-reference" title="Campbell, C. J., Keokarn, T. A. &lt;strong&gt;Squamous-cell carcinoma of the nail bed in epidermal dysplasia.&lt;/strong&gt; J. Bone Joint Surg. Am. 48: 92-99, 1966.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5902801/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5902801&lt;/a&gt;]" pmid="5902801">Campbell and Keokarn, 1966</a>; <a href="#25" class="mim-tip-reference" title="Williams, M., Fraser, F. C. &lt;strong&gt;Hidrotic ectodermal dysplasia--Clouston&#x27;s family revisited.&lt;/strong&gt; Canad. Med. Assoc. J. 96: 36-38, 1967.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6016585/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6016585&lt;/a&gt;]" pmid="6016585">Williams and Fraser, 1967</a>; <a href="#18" class="mim-tip-reference" title="Mauro, J., Maslyn, R., Stein, A. A. &lt;strong&gt;Squamous-cell carcinoma of nail bed in hereditary ectodermal dysplasia.&lt;/strong&gt; N. Y. State J. Med. 1: 1065-1066, 1972."None>Mauro et al., 1972</a>), but were not observed in the Chinese-Malay family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6016585+5902801+139851+10354044" 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="#1" class="mim-tip-reference" title="Bixler, D., Patel, R. A. &lt;strong&gt;Clouston syndrome: a rare autosomal dominant trait with palmoplantar hyperkeratosis and alopecia. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 47 (suppl.): A49, 1990."None>Bixler and Patel (1990)</a> described a large kindred of British ancestry. They emphasized the occurrence of palmoplantar hyperkeratosis and alopecia as well as severely dysplastic nails.</p><p><a href="#9" class="mim-tip-reference" title="Hassed, S. J., Kincannon, J. M., Arnold, G. L. &lt;strong&gt;Clouston syndrome: an ectodermal dysplasia without significant dental findings.&lt;/strong&gt; Am. J. Med. Genet. 61: 274-276, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8741874/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8741874&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1096-8628(19960122)61:3&lt;274::AID-AJMG13&gt;3.0.CO;2-Q&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8741874">Hassed et al. (1996)</a> described a family with a hair-nail dysplasia in 10 persons through 4 generations. Affected individuals had features consistent with Clouston syndrome, including variable sparsity of hair, thick, discolored, hyperconvex nails with onycholysis, and normal sweating. Unlike affected members of the families originally described by <a href="#3" class="mim-tip-reference" title="Clouston, H. R. &lt;strong&gt;A hereditary ectodermal dystrophy.&lt;/strong&gt; Canad. Med. Assoc. J. 21: 18-31, 1929.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20317409/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20317409&lt;/a&gt;]" pmid="20317409">Clouston (1929)</a>, however, they lacked hyperkeratosis and dental caries. <a href="#9" class="mim-tip-reference" title="Hassed, S. J., Kincannon, J. M., Arnold, G. L. &lt;strong&gt;Clouston syndrome: an ectodermal dysplasia without significant dental findings.&lt;/strong&gt; Am. J. Med. Genet. 61: 274-276, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8741874/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8741874&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1096-8628(19960122)61:3&lt;274::AID-AJMG13&gt;3.0.CO;2-Q&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8741874">Hassed et al. (1996)</a> noted that dental abnormalities had not been reported in other families with Clouston syndrome. They proposed that dental abnormalities, typical of other ectodermal dysplasias, are not a usual component of the Clouston syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8741874+20317409" 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="#21" class="mim-tip-reference" title="Scriver, C. R., Solomons, C. C., Davies, E., Williams, M., Bolton, J. &lt;strong&gt;A molecular abnormality of keratin in ectodermal dysplasia. (Abstract)&lt;/strong&gt; J. Pediat. 67: 946, 1965."None>Scriver et al. (1965)</a> found that the hair from affected patients was thin with reduced tensile strength, disorganized fibrillar structure by light microscopy, reduced birefringence in polarized light, and increased amount of reactive SH groups. A full report was provided by <a href="#7" class="mim-tip-reference" title="Gold, R. J. M., Scriver, C. R. &lt;strong&gt;The characterization of hereditary abnormalities of keratin: Clouston&#x27;s ectodermal dysplasia.&lt;/strong&gt; Birth Defects Orig. Art. Ser. 7(8): 91-95, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5173317/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5173317&lt;/a&gt;]" pmid="5173317">Gold and Scriver (1971)</a>. Ultrastructural studies of hair showed disorganization of hair fibrils with loss of the cuticular cortex (<a href="#5" class="mim-tip-reference" title="Escobar, V., Goldblatt, L. I., Bixler, D., Weaver, D. &lt;strong&gt;Clouston syndrome: an ultrastructural study.&lt;/strong&gt; Clin. Genet. 24: 140-146, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6616952/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6616952&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1983.tb02225.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6616952">Escobar et al., 1983</a>). The changes were considered consistent with a molecular defect of keratin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5173317+6616952" 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 id="inheritance" class="mim-anchor"></a>
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<strong>Inheritance</strong>
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<p>The transmission pattern of ectodermal dysplasia in the French Canadian family described by <a href="#3" class="mim-tip-reference" title="Clouston, H. R. &lt;strong&gt;A hereditary ectodermal dystrophy.&lt;/strong&gt; Canad. Med. Assoc. J. 21: 18-31, 1929.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20317409/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20317409&lt;/a&gt;]" pmid="20317409">Clouston (1929)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20317409" 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 id="mapping" class="mim-anchor"></a>
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<strong>Mapping</strong>
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<p>By 2-point and multipoint linkage analysis of 9 microsatellite markers in 8 French Canadian families segregating Clouston hidrotic ectodermal dysplasia, <a href="#13" class="mim-tip-reference" title="Kibar, Z., Der Kaloustian, V. M., Brais, B., Hani, V., Fraser, F. C., Rouleau, G. A. &lt;strong&gt;The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q.&lt;/strong&gt; Hum. Molec. Genet. 5: 543-547, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8845850/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8845850&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/5.4.543&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8845850">Kibar et al. (1996)</a> mapped the locus for this disorder to the pericentromeric region of chromosome 13q. Data from haplotype analysis showed that D13S143 is the telomeric flanking marker for the Clouston hidrotic ectodermal dysplasia gene region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8845850" 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 large Indian kindred from the Gujarat region, <a href="#19" class="mim-tip-reference" title="Radhakrishna, U., Blouin, J.-L., Mehenni, H., Mehta, T. Y., Sheth, F. J., Sheth, J. J., Solanki, J. V., Antonarakis, S. E. &lt;strong&gt;The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region.&lt;/strong&gt; Am. J. Med. Genet. 71: 80-86, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9215774/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9215774&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19970711)71:1&lt;80::aid-ajmg15&gt;3.0.co;2-r&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9215774">Radhakrishna et al. (1997)</a> mapped the Clouston syndrome to 13q11-q12.1 through linkage with DNA markers. Multipoint linkage analysis yielded a lod score of 5.04 at theta = 0.00 with D13S1316; haplotype analysis indicated that the gene for Clouston syndrome in this kindred is located proximal to D13S292. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9215774" 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="#23" class="mim-tip-reference" title="Taylor, T. D., Hayflick, S. J., McKinnon, W., Guttmacher, A. E., Hovnanian, A., Litt, M., Zonana, J. &lt;strong&gt;Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with evidence for multiple independent mutations.&lt;/strong&gt; J. Invest. Derm. 111: 83-85, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9665391/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9665391&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1523-1747.1998.00245.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9665391">Taylor et al. (1998)</a> found linkage to 13q11-q12.1 in 2 additional families of French Canadian descent, 1 of Scottish-Irish descent, and 1 French family. The 2 families of French Canadian descent shared haplotypes with those reported by <a href="#13" class="mim-tip-reference" title="Kibar, Z., Der Kaloustian, V. M., Brais, B., Hani, V., Fraser, F. C., Rouleau, G. A. &lt;strong&gt;The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q.&lt;/strong&gt; Hum. Molec. Genet. 5: 543-547, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8845850/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8845850&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/5.4.543&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8845850">Kibar et al. (1996)</a>, indicating a common founder. The French and Scottish-Irish families did not demonstrate the common haplotype, indicating that the mutations in these populations were probably of different origin. <a href="#16" class="mim-tip-reference" title="Lamartine, J., Laoudj, D., Blanchet-Bardon, C., Kibar, Z., Soularue, P., Ridoux, V., Dubertret, L., Rouleau, G. A., Waksman, G. &lt;strong&gt;Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family.&lt;/strong&gt; Brit. J. Derm. 142: 248-252, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10730756/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10730756&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1365-2133.2000.03292.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10730756">Lamartine et al. (2000)</a> confirmed linkage of Clouston syndrome to chromosome 13q11-q12.1 in a large French family. The maximum lod score was 8.5 at theta = 0 for D13S1835. They localized the gene to a 4.5-Mb interval between D13S1832 and D13S1826. Haplotypes were analyzed and found to be different from those found in French Canadian families, suggesting these mutations may have had different origins. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9665391+8845850+10730756" 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 the family of Chinese-Malay descent with autosomal dominant hidrotic ectodermal dysplasia originally described by <a href="#20" class="mim-tip-reference" title="Rajagopalan, K., Tay, C. H. &lt;strong&gt;Hidrotic ectodermal dysplasia: study of a large Chinese pedigree.&lt;/strong&gt; Arch. Derm. 113: 481-484, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/139851/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;139851&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archderm.113.4.481&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="139851">Rajagopalan and Tay (1977)</a>, <a href="#22" class="mim-tip-reference" title="Stevens, H. P., Choon, S. E., Hennies, H. C., Kelsell, D. P. &lt;strong&gt;Evidence for a single genetic locus in Clouston&#x27;s hidrotic ectodermal dysplasia. (Letter)&lt;/strong&gt; Brit. J. Derm. 140: 963-991, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10354044/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10354044&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1365-2133.1999.02837.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10354044">Stevens et al. (1999)</a> found linkage to 13q11-q12.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=139851+10354044" 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><strong><em>Exclusion Studies</em></strong></p><p>
<a href="#10" class="mim-tip-reference" title="Hayflick, S. J., Taylor, T., McKinnon, W., Guttmacher, A. E., Litt, M., Zonana, J. &lt;strong&gt;Clouston syndrome (hidrotic ectodermal dysplasia) is not linked to keratin gene clusters on chromosomes 12 and 17.&lt;/strong&gt; J. Invest. Derm. 107: 11-14, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8752831/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8752831&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/1523-1747.ep12295239&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8752831">Hayflick et al. (1996)</a> excluded linkage between Clouston syndrome and the keratin gene clusters on chromosomes 12 (see <a href="/entry/139350">139350</a>) and 17 (see <a href="/entry/607606">607606</a>). They also excluded linkage to 4 other candidate regions containing the genes encoding keratin-associated proteins: the desmoglein (<a href="/entry/125670">125670</a>) genes on 18q12.1; proteins expressed in terminally differentiated epidermis on 1q21; and transglutaminase (<a href="/entry/190195">190195</a>) on 20q12. It also did not map to 17q23-qter where the tylosis/esophageal cancer syndrome maps separate from the keratin gene cluster. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8752831" 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>In a genetic analysis applied to a multiethnic group of 29 hidrotic ectodermal dysplasia families, <a href="#14" class="mim-tip-reference" title="Kibar, Z., Dube, M.-P., Powell, J., McCuaig, C., Hayflick, S. J., Zonana, J., Hovnanian, A., Radhakrishna, U., Antonarakis, S. E., Benohanian, A., Sheeran, A. D., Stephan, M. L., Gosselin, R., Kelsell, D. P., Christianson, A. L., Fraser, F. C., Der Kaloustian, V. M., Rouleau, G. A. &lt;strong&gt;Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping.&lt;/strong&gt; Europ. J. Hum. Genet. 8: 372-380, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10854098/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10854098&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5200471&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10854098">Kibar et al. (2000)</a> found no evidence of genetic heterogeneity in families of French, Spanish, African, or Malaysian origin. They showed evidence for a strong founder effect in families of French Canadian origin, thereby representing the first example of a founder disease in the southwest part of the province of Quebec. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10854098" 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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<strong>Molecular Genetics</strong>
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<p>In patients with Clouston syndrome, <a href="#15" class="mim-tip-reference" title="Lamartine, J., Essenfelder, G. M., Kibar, Z., Lanneluc, I., Callouet, E., Laoudj, D., Lemaitre, G., Hand, C., Haylick, S. J., Zonana, J., Antonarakis, S., Radhakrishna, U., Kelsell, D. P., Christianson, A. L., Pitaval, A., Der Kaloustian, V., Fraser, C., Blanchet-Bardon, C., Rouleau, G. A., Waksman, G. &lt;strong&gt;Mutations in GJB6 cause hidrotic ectodermal dysplasia.&lt;/strong&gt; Nature Genet. 26: 142-144, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11017065/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11017065&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/79851&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11017065">Lamartine et al. (2000)</a> demonstrated mutations in the gene encoding connexin-30 (GJB6; <a href="/entry/604418">604418</a>). One mutation, G11R (<a href="/entry/604418#0002">604418.0002</a>), was found in individuals from several areas of Europe and in 1 from Africa. Another missense mutation in the GJB6 gene (<a href="/entry/604418#0001">604418.0001</a>) causes autosomal dominant nonsyndromic sensorineural deafness (DFNA3; <a href="/entry/601544">601544</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11017065" 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>It is possible that cases of Clouston syndrome with deafness represent a contiguous gene syndrome resulting from deletion of the GJB6 gene and of the connexin-26 gene (<a href="/entry/121011">121011</a>), which is the site of mutations causing both autosomal dominant and autosomal recessive forms of deafness and is localized to 13q11-q12 (<a href="#12" class="mim-tip-reference" title="Kelsell, D. P., Dunlop, J., Stevens, H. P., Lench, N. J., Liang, J. N., Parry, G., Mueller, R. F., Leigh, I. M. &lt;strong&gt;Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.&lt;/strong&gt; Nature 387: 80-83, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9139825/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9139825&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/387080a0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9139825">Kelsell et al., 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9139825" 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 id="nomenclature" class="mim-anchor"></a>
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<strong>Nomenclature</strong>
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<p>The acronym HED has been used in the literature to designate both hypohidrotic ectodermal dysplasia (see <a href="/entry/305100">305100</a>, <a href="/entry/224900">224900</a>, and <a href="/entry/129490">129490</a>) and hidrotic ectodermal dysplasia. In OMIM, HED is used to designate hypohidrotic ectodermal dysplasia.</p>
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<a id="seeAlso" class="mim-anchor"></a>
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>See Also:</strong>
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<span class="mim-text-font">
<a href="#Gold1972" class="mim-tip-reference" title="Gold, R. J. M., Scriver, C. R. &lt;strong&gt;Properties of hair keratin in an autosomal dominant form of ectodermal dysplasia.&lt;/strong&gt; Am. J. Hum. Genet. 24: 549-561, 1972.">Gold and Scriver (1972)</a>
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<a id="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
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</h4>
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<a id="1" class="mim-anchor"></a>
<a id="Bixler1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bixler, D., Patel, R. A.
<strong>Clouston syndrome: a rare autosomal dominant trait with palmoplantar hyperkeratosis and alopecia. (Abstract)</strong>
Am. J. Hum. Genet. 47 (suppl.): A49, 1990.
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<a id="2" class="mim-anchor"></a>
<a id="Campbell1966" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Campbell, C. J., Keokarn, T. A.
<strong>Squamous-cell carcinoma of the nail bed in epidermal dysplasia.</strong>
J. Bone Joint Surg. Am. 48: 92-99, 1966.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5902801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5902801</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5902801" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="3" class="mim-anchor"></a>
<a id="Clouston1929" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Clouston, H. R.
<strong>A hereditary ectodermal dystrophy.</strong>
Canad. Med. Assoc. J. 21: 18-31, 1929.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20317409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20317409</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20317409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="4" class="mim-anchor"></a>
<a id="Clouston1939" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Clouston, H. R.
<strong>The major forms of hereditary ectodermal dysplasia.</strong>
Canad. Med. Assoc. J. 40: 1-7, 1939.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20321205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20321205</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20321205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="5" class="mim-anchor"></a>
<a id="Escobar1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Escobar, V., Goldblatt, L. I., Bixler, D., Weaver, D.
<strong>Clouston syndrome: an ultrastructural study.</strong>
Clin. Genet. 24: 140-146, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6616952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6616952</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6616952" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1983.tb02225.x" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
<a id="Gagnon1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gagnon, C. A., Berg, S. Z., Moeschler, J. B.
<strong>Clouston hydrotic (sic) ectodermal dysplasia: report of a large New England family. (Abstract)</strong>
Am. J. Hum. Genet. 45 (suppl.): A121, 1989.
</p>
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<li>
<a id="7" class="mim-anchor"></a>
<a id="Gold1971" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gold, R. J. M., Scriver, C. R.
<strong>The characterization of hereditary abnormalities of keratin: Clouston's ectodermal dysplasia.</strong>
Birth Defects Orig. Art. Ser. 7(8): 91-95, 1971.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5173317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5173317</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5173317" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
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<a id="8" class="mim-anchor"></a>
<a id="Gold1972" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gold, R. J. M., Scriver, C. R.
<strong>Properties of hair keratin in an autosomal dominant form of ectodermal dysplasia.</strong>
Am. J. Hum. Genet. 24: 549-561, 1972.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5054225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5054225</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5054225" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="9" class="mim-anchor"></a>
<a id="Hassed1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hassed, S. J., Kincannon, J. M., Arnold, G. L.
<strong>Clouston syndrome: an ectodermal dysplasia without significant dental findings.</strong>
Am. J. Med. Genet. 61: 274-276, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8741874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8741874</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8741874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(SICI)1096-8628(19960122)61:3&lt;274::AID-AJMG13&gt;3.0.CO;2-Q" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
<a id="Hayflick1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hayflick, S. J., Taylor, T., McKinnon, W., Guttmacher, A. E., Litt, M., Zonana, J.
<strong>Clouston syndrome (hidrotic ectodermal dysplasia) is not linked to keratin gene clusters on chromosomes 12 and 17.</strong>
J. Invest. Derm. 107: 11-14, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8752831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8752831</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8752831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/1523-1747.ep12295239" target="_blank">Full Text</a>]
</p>
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<a id="11" class="mim-anchor"></a>
<a id="Joachim1936" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Joachim, H.
<strong>Hereditary dystrophy of the hair and nails in six generations.</strong>
Ann. Intern. Med. 10: 400-402, 1936.
</p>
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</li>
<li>
<a id="12" class="mim-anchor"></a>
<a id="Kelsell1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kelsell, D. P., Dunlop, J., Stevens, H. P., Lench, N. J., Liang, J. N., Parry, G., Mueller, R. F., Leigh, I. M.
<strong>Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.</strong>
Nature 387: 80-83, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9139825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9139825</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9139825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/387080a0" target="_blank">Full Text</a>]
</p>
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<a id="13" class="mim-anchor"></a>
<a id="Kibar1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kibar, Z., Der Kaloustian, V. M., Brais, B., Hani, V., Fraser, F. C., Rouleau, G. A.
<strong>The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q.</strong>
Hum. Molec. Genet. 5: 543-547, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8845850/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8845850</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8845850" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/5.4.543" target="_blank">Full Text</a>]
</p>
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<a id="14" class="mim-anchor"></a>
<a id="Kibar2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kibar, Z., Dube, M.-P., Powell, J., McCuaig, C., Hayflick, S. J., Zonana, J., Hovnanian, A., Radhakrishna, U., Antonarakis, S. E., Benohanian, A., Sheeran, A. D., Stephan, M. L., Gosselin, R., Kelsell, D. P., Christianson, A. L., Fraser, F. C., Der Kaloustian, V. M., Rouleau, G. A.
<strong>Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping.</strong>
Europ. J. Hum. Genet. 8: 372-380, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10854098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10854098</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10854098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/sj.ejhg.5200471" target="_blank">Full Text</a>]
</p>
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<a id="15" class="mim-anchor"></a>
<a id="Lamartine2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lamartine, J., Essenfelder, G. M., Kibar, Z., Lanneluc, I., Callouet, E., Laoudj, D., Lemaitre, G., Hand, C., Haylick, S. J., Zonana, J., Antonarakis, S., Radhakrishna, U., Kelsell, D. P., Christianson, A. L., Pitaval, A., Der Kaloustian, V., Fraser, C., Blanchet-Bardon, C., Rouleau, G. A., Waksman, G.
<strong>Mutations in GJB6 cause hidrotic ectodermal dysplasia.</strong>
Nature Genet. 26: 142-144, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11017065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11017065</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11017065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/79851" target="_blank">Full Text</a>]
</p>
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<a id="16" class="mim-anchor"></a>
<a id="Lamartine2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lamartine, J., Laoudj, D., Blanchet-Bardon, C., Kibar, Z., Soularue, P., Ridoux, V., Dubertret, L., Rouleau, G. A., Waksman, G.
<strong>Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family.</strong>
Brit. J. Derm. 142: 248-252, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10730756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10730756</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10730756" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1046/j.1365-2133.2000.03292.x" target="_blank">Full Text</a>]
</p>
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<a id="17" class="mim-anchor"></a>
<a id="MacKay1929" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
MacKay, H., Davidson, A. M.
<strong>Congenital ectodermal dysplasia.</strong>
Brit. J. Derm. 41: 1-5, 1929.
</p>
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<a id="18" class="mim-anchor"></a>
<a id="Mauro1972" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mauro, J., Maslyn, R., Stein, A. A.
<strong>Squamous-cell carcinoma of nail bed in hereditary ectodermal dysplasia.</strong>
N. Y. State J. Med. 1: 1065-1066, 1972.
</p>
</div>
</li>
<li>
<a id="19" class="mim-anchor"></a>
<a id="Radhakrishna1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Radhakrishna, U., Blouin, J.-L., Mehenni, H., Mehta, T. Y., Sheth, F. J., Sheth, J. J., Solanki, J. V., Antonarakis, S. E.
<strong>The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region.</strong>
Am. J. Med. Genet. 71: 80-86, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215774/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215774</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9215774" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1096-8628(19970711)71:1&lt;80::aid-ajmg15&gt;3.0.co;2-r" target="_blank">Full Text</a>]
</p>
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<a id="Rajagopalan1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Rajagopalan, K., Tay, C. H.
<strong>Hidrotic ectodermal dysplasia: study of a large Chinese pedigree.</strong>
Arch. Derm. 113: 481-484, 1977.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/139851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">139851</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=139851" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archderm.113.4.481" target="_blank">Full Text</a>]
</p>
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<a id="21" class="mim-anchor"></a>
<a id="Scriver1965" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Scriver, C. R., Solomons, C. C., Davies, E., Williams, M., Bolton, J.
<strong>A molecular abnormality of keratin in ectodermal dysplasia. (Abstract)</strong>
J. Pediat. 67: 946, 1965.
</p>
</div>
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<a id="Stevens1999" class="mim-anchor"></a>
<div class="">
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Stevens, H. P., Choon, S. E., Hennies, H. C., Kelsell, D. P.
<strong>Evidence for a single genetic locus in Clouston's hidrotic ectodermal dysplasia. (Letter)</strong>
Brit. J. Derm. 140: 963-991, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10354044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10354044</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10354044" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1046/j.1365-2133.1999.02837.x" target="_blank">Full Text</a>]
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<a id="Taylor1998" class="mim-anchor"></a>
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Taylor, T. D., Hayflick, S. J., McKinnon, W., Guttmacher, A. E., Hovnanian, A., Litt, M., Zonana, J.
<strong>Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with evidence for multiple independent mutations.</strong>
J. Invest. Derm. 111: 83-85, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9665391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9665391</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9665391" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1046/j.1523-1747.1998.00245.x" target="_blank">Full Text</a>]
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<a id="Wilkey1945" class="mim-anchor"></a>
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Wilkey, W. D., Stevenson, G. H.
<strong>A family with inherited ectodermal dystrophy.</strong>
Canad. Med. Assoc. J. 53: 226-230, 1945.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20323542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20323542</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20323542" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="25" class="mim-anchor"></a>
<a id="Williams1967" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Williams, M., Fraser, F. C.
<strong>Hidrotic ectodermal dysplasia--Clouston's family revisited.</strong>
Canad. Med. Assoc. J. 96: 36-38, 1967.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6016585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6016585</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6016585" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cassandra L. Kniffin - reorganized : 9/15/2003
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Victor A. McKusick - updated : 11/2/2000<br>Victor A. McKusick - updated : 9/20/2000<br>Gary A. Bellus - updated : 4/25/2000<br>Victor A. McKusick - updated : 11/4/1999<br>Victor A. McKusick - updated : 8/26/1998<br>Victor A. McKusick - updated : 8/18/1997<br>Victor A. McKusick - updated : 4/30/1997<br>Moyra Smith - updated : 5/11/1996
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Creation Date:
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Victor A. McKusick : 6/4/1986
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carol : 05/16/2017
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<h3>
<span class="mim-font">
<strong>#</strong> 129500
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<span class="mim-font">
CLOUSTON SYNDROME
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2<br />
ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT<br />
CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA<br />
ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY
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<strong>SNOMEDCT:</strong> 54209007; &nbsp;
<strong>ORPHA:</strong> 189; &nbsp;
<strong>DO:</strong> 14693; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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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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Gene/Locus
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Gene/Locus <br /> MIM number
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13q12.11
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Ectodermal dysplasia 2, Clouston type
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129500
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Autosomal dominant
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3
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GJB6
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604418
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Clouston syndrome is caused by heterozygous mutation in the GJB6 gene (604418), which encodes connexin-30, on chromosome 13q12.</p>
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<strong>Description</strong>
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<p>The main features of Clouston syndrome are dystrophy of the nails that tend to be hypoplastic and deformed with increased susceptibility to paronychial infections, defects of the hair that range from brittleness and slow growth rate to total alopecia, and moderate to severe palmoplantar hyperkeratosis with reduced keratinocyte desquamation (summary by Kibar et al., 1996). </p>
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<strong>Clinical Features</strong>
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<p>Clouston (1929) described members of a large French Canadian family with a form of ectodermal dysplasia affecting predominantly the nails, hair, and skin. Sweating was normal. Fingernails and toenails were short, thick, and slow growing; in some cases the nails were absent. Hair was fine, dry, and brittle and in some cases absent; eyelashes and eyebrows were also affected. Patients had clubbing of fingers, palmar hyperkeratosis, and hyperpigmentation of the skin. Although 'as a whole' those affected had 'poor teeth,' dentition was 'mostly normal.' Several other reports described an extensive kindred of French extraction that migrated to Canada, Scotland, and northern United States (Clouston, 1939; Joachim, 1936; MacKay and Davidson, 1929; Wilkey and Stevenson, 1945). In a large French Canadian family living in rural New Hampshire and Vermont, Gagnon et al. (1989) found that all affected females had complete balding while the males had variable expression ranging from light blond hair with focal alopecia to total balding. All females wore wigs beginning in childhood. Presumably this kindred had genealogic connections to those studied by Clouston (1929, 1939) and others. </p><p>Rajagopalan and Tay (1977) described autosomal dominant hidrotic ectodermal dysplasia in 15 members in 5 generations of a Chinese family in Malaysia. All 15 had typical nail, hair, and skin lesions. Scalp alopecia was more extensive in females, whereas keratoderma of the palms and soles was more notable in males. Stevens et al. (1999) examined 14 affected members over 3 generations of the family originally described by Rajagopalan and Tay (1977). A diffuse warty palmoplantar keratoderma developed over the entire sole and the hypothenar eminence of the hands. The skin changes extended to involve the periungual regions of the nails. The nail changes were variable and ranged from discolored, thickened, and dystrophic nails to hypoplasia with a classic cone-shaped or triangular nail. The distal ends of the fingers were thickened and the digits appeared clubbed. Some developed a severe alopecia in infancy, whereas in others it occurred later. The eyebrows, eyelashes, and pubic and axillary hair were almost invariably involved and were either very sparse or lost completely. Sweating, teeth, breast development, and oral mucosa all appeared normal. The authors noted that multiple cutaneous squamous cell carcinomas of the palmar tissue and nail bed had been reported in the Canadian family (Campbell and Keokarn, 1966; Williams and Fraser, 1967; Mauro et al., 1972), but were not observed in the Chinese-Malay family. </p><p>Bixler and Patel (1990) described a large kindred of British ancestry. They emphasized the occurrence of palmoplantar hyperkeratosis and alopecia as well as severely dysplastic nails.</p><p>Hassed et al. (1996) described a family with a hair-nail dysplasia in 10 persons through 4 generations. Affected individuals had features consistent with Clouston syndrome, including variable sparsity of hair, thick, discolored, hyperconvex nails with onycholysis, and normal sweating. Unlike affected members of the families originally described by Clouston (1929), however, they lacked hyperkeratosis and dental caries. Hassed et al. (1996) noted that dental abnormalities had not been reported in other families with Clouston syndrome. They proposed that dental abnormalities, typical of other ectodermal dysplasias, are not a usual component of the Clouston syndrome. </p><p>Scriver et al. (1965) found that the hair from affected patients was thin with reduced tensile strength, disorganized fibrillar structure by light microscopy, reduced birefringence in polarized light, and increased amount of reactive SH groups. A full report was provided by Gold and Scriver (1971). Ultrastructural studies of hair showed disorganization of hair fibrils with loss of the cuticular cortex (Escobar et al., 1983). The changes were considered consistent with a molecular defect of keratin. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of ectodermal dysplasia in the French Canadian family described by Clouston (1929) was consistent with autosomal dominant inheritance. </p>
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<strong>Mapping</strong>
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<p>By 2-point and multipoint linkage analysis of 9 microsatellite markers in 8 French Canadian families segregating Clouston hidrotic ectodermal dysplasia, Kibar et al. (1996) mapped the locus for this disorder to the pericentromeric region of chromosome 13q. Data from haplotype analysis showed that D13S143 is the telomeric flanking marker for the Clouston hidrotic ectodermal dysplasia gene region. </p><p>In a large Indian kindred from the Gujarat region, Radhakrishna et al. (1997) mapped the Clouston syndrome to 13q11-q12.1 through linkage with DNA markers. Multipoint linkage analysis yielded a lod score of 5.04 at theta = 0.00 with D13S1316; haplotype analysis indicated that the gene for Clouston syndrome in this kindred is located proximal to D13S292. </p><p>Taylor et al. (1998) found linkage to 13q11-q12.1 in 2 additional families of French Canadian descent, 1 of Scottish-Irish descent, and 1 French family. The 2 families of French Canadian descent shared haplotypes with those reported by Kibar et al. (1996), indicating a common founder. The French and Scottish-Irish families did not demonstrate the common haplotype, indicating that the mutations in these populations were probably of different origin. Lamartine et al. (2000) confirmed linkage of Clouston syndrome to chromosome 13q11-q12.1 in a large French family. The maximum lod score was 8.5 at theta = 0 for D13S1835. They localized the gene to a 4.5-Mb interval between D13S1832 and D13S1826. Haplotypes were analyzed and found to be different from those found in French Canadian families, suggesting these mutations may have had different origins. </p><p>In the family of Chinese-Malay descent with autosomal dominant hidrotic ectodermal dysplasia originally described by Rajagopalan and Tay (1977), Stevens et al. (1999) found linkage to 13q11-q12.1. </p><p><strong><em>Exclusion Studies</em></strong></p><p>
Hayflick et al. (1996) excluded linkage between Clouston syndrome and the keratin gene clusters on chromosomes 12 (see 139350) and 17 (see 607606). They also excluded linkage to 4 other candidate regions containing the genes encoding keratin-associated proteins: the desmoglein (125670) genes on 18q12.1; proteins expressed in terminally differentiated epidermis on 1q21; and transglutaminase (190195) on 20q12. It also did not map to 17q23-qter where the tylosis/esophageal cancer syndrome maps separate from the keratin gene cluster. </p>
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<span class="mim-font">
<strong>Population Genetics</strong>
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<p>In a genetic analysis applied to a multiethnic group of 29 hidrotic ectodermal dysplasia families, Kibar et al. (2000) found no evidence of genetic heterogeneity in families of French, Spanish, African, or Malaysian origin. They showed evidence for a strong founder effect in families of French Canadian origin, thereby representing the first example of a founder disease in the southwest part of the province of Quebec. </p>
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<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
<p>In patients with Clouston syndrome, Lamartine et al. (2000) demonstrated mutations in the gene encoding connexin-30 (GJB6; 604418). One mutation, G11R (604418.0002), was found in individuals from several areas of Europe and in 1 from Africa. Another missense mutation in the GJB6 gene (604418.0001) causes autosomal dominant nonsyndromic sensorineural deafness (DFNA3; 601544). </p><p>It is possible that cases of Clouston syndrome with deafness represent a contiguous gene syndrome resulting from deletion of the GJB6 gene and of the connexin-26 gene (121011), which is the site of mutations causing both autosomal dominant and autosomal recessive forms of deafness and is localized to 13q11-q12 (Kelsell et al., 1997). </p>
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<span class="mim-font">
<strong>Nomenclature</strong>
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<span class="mim-text-font">
<p>The acronym HED has been used in the literature to designate both hypohidrotic ectodermal dysplasia (see 305100, 224900, and 129490) and hidrotic ectodermal dysplasia. In OMIM, HED is used to designate hypohidrotic ectodermal dysplasia.</p>
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<h4>
<span class="mim-font">
<strong>See Also:</strong>
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</h4>
<span class="mim-text-font">
Gold and Scriver (1972)
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
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<p />
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<div>
<ol>
<li>
<p class="mim-text-font">
Bixler, D., Patel, R. A.
<strong>Clouston syndrome: a rare autosomal dominant trait with palmoplantar hyperkeratosis and alopecia. (Abstract)</strong>
Am. J. Hum. Genet. 47 (suppl.): A49, 1990.
</p>
</li>
<li>
<p class="mim-text-font">
Campbell, C. J., Keokarn, T. A.
<strong>Squamous-cell carcinoma of the nail bed in epidermal dysplasia.</strong>
J. Bone Joint Surg. Am. 48: 92-99, 1966.
[PubMed: 5902801]
</p>
</li>
<li>
<p class="mim-text-font">
Clouston, H. R.
<strong>A hereditary ectodermal dystrophy.</strong>
Canad. Med. Assoc. J. 21: 18-31, 1929.
[PubMed: 20317409]
</p>
</li>
<li>
<p class="mim-text-font">
Clouston, H. R.
<strong>The major forms of hereditary ectodermal dysplasia.</strong>
Canad. Med. Assoc. J. 40: 1-7, 1939.
[PubMed: 20321205]
</p>
</li>
<li>
<p class="mim-text-font">
Escobar, V., Goldblatt, L. I., Bixler, D., Weaver, D.
<strong>Clouston syndrome: an ultrastructural study.</strong>
Clin. Genet. 24: 140-146, 1983.
[PubMed: 6616952]
[Full Text: https://doi.org/10.1111/j.1399-0004.1983.tb02225.x]
</p>
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<li>
<p class="mim-text-font">
Gagnon, C. A., Berg, S. Z., Moeschler, J. B.
<strong>Clouston hydrotic (sic) ectodermal dysplasia: report of a large New England family. (Abstract)</strong>
Am. J. Hum. Genet. 45 (suppl.): A121, 1989.
</p>
</li>
<li>
<p class="mim-text-font">
Gold, R. J. M., Scriver, C. R.
<strong>The characterization of hereditary abnormalities of keratin: Clouston&#x27;s ectodermal dysplasia.</strong>
Birth Defects Orig. Art. Ser. 7(8): 91-95, 1971.
[PubMed: 5173317]
</p>
</li>
<li>
<p class="mim-text-font">
Gold, R. J. M., Scriver, C. R.
<strong>Properties of hair keratin in an autosomal dominant form of ectodermal dysplasia.</strong>
Am. J. Hum. Genet. 24: 549-561, 1972.
[PubMed: 5054225]
</p>
</li>
<li>
<p class="mim-text-font">
Hassed, S. J., Kincannon, J. M., Arnold, G. L.
<strong>Clouston syndrome: an ectodermal dysplasia without significant dental findings.</strong>
Am. J. Med. Genet. 61: 274-276, 1996.
[PubMed: 8741874]
[Full Text: https://doi.org/10.1002/(SICI)1096-8628(19960122)61:3&lt;274::AID-AJMG13&gt;3.0.CO;2-Q]
</p>
</li>
<li>
<p class="mim-text-font">
Hayflick, S. J., Taylor, T., McKinnon, W., Guttmacher, A. E., Litt, M., Zonana, J.
<strong>Clouston syndrome (hidrotic ectodermal dysplasia) is not linked to keratin gene clusters on chromosomes 12 and 17.</strong>
J. Invest. Derm. 107: 11-14, 1996.
[PubMed: 8752831]
[Full Text: https://doi.org/10.1111/1523-1747.ep12295239]
</p>
</li>
<li>
<p class="mim-text-font">
Joachim, H.
<strong>Hereditary dystrophy of the hair and nails in six generations.</strong>
Ann. Intern. Med. 10: 400-402, 1936.
</p>
</li>
<li>
<p class="mim-text-font">
Kelsell, D. P., Dunlop, J., Stevens, H. P., Lench, N. J., Liang, J. N., Parry, G., Mueller, R. F., Leigh, I. M.
<strong>Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.</strong>
Nature 387: 80-83, 1997.
[PubMed: 9139825]
[Full Text: https://doi.org/10.1038/387080a0]
</p>
</li>
<li>
<p class="mim-text-font">
Kibar, Z., Der Kaloustian, V. M., Brais, B., Hani, V., Fraser, F. C., Rouleau, G. A.
<strong>The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q.</strong>
Hum. Molec. Genet. 5: 543-547, 1996.
[PubMed: 8845850]
[Full Text: https://doi.org/10.1093/hmg/5.4.543]
</p>
</li>
<li>
<p class="mim-text-font">
Kibar, Z., Dube, M.-P., Powell, J., McCuaig, C., Hayflick, S. J., Zonana, J., Hovnanian, A., Radhakrishna, U., Antonarakis, S. E., Benohanian, A., Sheeran, A. D., Stephan, M. L., Gosselin, R., Kelsell, D. P., Christianson, A. L., Fraser, F. C., Der Kaloustian, V. M., Rouleau, G. A.
<strong>Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping.</strong>
Europ. J. Hum. Genet. 8: 372-380, 2000.
[PubMed: 10854098]
[Full Text: https://doi.org/10.1038/sj.ejhg.5200471]
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</li>
<li>
<p class="mim-text-font">
Lamartine, J., Essenfelder, G. M., Kibar, Z., Lanneluc, I., Callouet, E., Laoudj, D., Lemaitre, G., Hand, C., Haylick, S. J., Zonana, J., Antonarakis, S., Radhakrishna, U., Kelsell, D. P., Christianson, A. L., Pitaval, A., Der Kaloustian, V., Fraser, C., Blanchet-Bardon, C., Rouleau, G. A., Waksman, G.
<strong>Mutations in GJB6 cause hidrotic ectodermal dysplasia.</strong>
Nature Genet. 26: 142-144, 2000.
[PubMed: 11017065]
[Full Text: https://doi.org/10.1038/79851]
</p>
</li>
<li>
<p class="mim-text-font">
Lamartine, J., Laoudj, D., Blanchet-Bardon, C., Kibar, Z., Soularue, P., Ridoux, V., Dubertret, L., Rouleau, G. A., Waksman, G.
<strong>Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family.</strong>
Brit. J. Derm. 142: 248-252, 2000.
[PubMed: 10730756]
[Full Text: https://doi.org/10.1046/j.1365-2133.2000.03292.x]
</p>
</li>
<li>
<p class="mim-text-font">
MacKay, H., Davidson, A. M.
<strong>Congenital ectodermal dysplasia.</strong>
Brit. J. Derm. 41: 1-5, 1929.
</p>
</li>
<li>
<p class="mim-text-font">
Mauro, J., Maslyn, R., Stein, A. A.
<strong>Squamous-cell carcinoma of nail bed in hereditary ectodermal dysplasia.</strong>
N. Y. State J. Med. 1: 1065-1066, 1972.
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</li>
<li>
<p class="mim-text-font">
Radhakrishna, U., Blouin, J.-L., Mehenni, H., Mehta, T. Y., Sheth, F. J., Sheth, J. J., Solanki, J. V., Antonarakis, S. E.
<strong>The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region.</strong>
Am. J. Med. Genet. 71: 80-86, 1997.
[PubMed: 9215774]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19970711)71:1&lt;80::aid-ajmg15&gt;3.0.co;2-r]
</p>
</li>
<li>
<p class="mim-text-font">
Rajagopalan, K., Tay, C. H.
<strong>Hidrotic ectodermal dysplasia: study of a large Chinese pedigree.</strong>
Arch. Derm. 113: 481-484, 1977.
[PubMed: 139851]
[Full Text: https://doi.org/10.1001/archderm.113.4.481]
</p>
</li>
<li>
<p class="mim-text-font">
Scriver, C. R., Solomons, C. C., Davies, E., Williams, M., Bolton, J.
<strong>A molecular abnormality of keratin in ectodermal dysplasia. (Abstract)</strong>
J. Pediat. 67: 946, 1965.
</p>
</li>
<li>
<p class="mim-text-font">
Stevens, H. P., Choon, S. E., Hennies, H. C., Kelsell, D. P.
<strong>Evidence for a single genetic locus in Clouston&#x27;s hidrotic ectodermal dysplasia. (Letter)</strong>
Brit. J. Derm. 140: 963-991, 1999.
[PubMed: 10354044]
[Full Text: https://doi.org/10.1046/j.1365-2133.1999.02837.x]
</p>
</li>
<li>
<p class="mim-text-font">
Taylor, T. D., Hayflick, S. J., McKinnon, W., Guttmacher, A. E., Hovnanian, A., Litt, M., Zonana, J.
<strong>Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with evidence for multiple independent mutations.</strong>
J. Invest. Derm. 111: 83-85, 1998.
[PubMed: 9665391]
[Full Text: https://doi.org/10.1046/j.1523-1747.1998.00245.x]
</p>
</li>
<li>
<p class="mim-text-font">
Wilkey, W. D., Stevenson, G. H.
<strong>A family with inherited ectodermal dystrophy.</strong>
Canad. Med. Assoc. J. 53: 226-230, 1945.
[PubMed: 20323542]
</p>
</li>
<li>
<p class="mim-text-font">
Williams, M., Fraser, F. C.
<strong>Hidrotic ectodermal dysplasia--Clouston&#x27;s family revisited.</strong>
Canad. Med. Assoc. J. 96: 36-38, 1967.
[PubMed: 6016585]
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