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<title>
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Entry
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- #148210 - KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT; KIDAD
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- OMIM
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<span class="h4">#148210</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/phenotypicSeries/PS148210"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#diagnosis">Diagnosis</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="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=520&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=477" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/2ae2277c-43f5-4e4d-88e9-e32f6f3a3888/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0060871" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/148210" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA001287/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 2625009<br />
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<strong>ORPHA:</strong> 477<br />
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<strong>DO:</strong> 0060871<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
|
148210
|
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</span>
|
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
|
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<span class="mim-font">
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KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT; KIDAD
|
|
|
|
</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">
|
|
KID SYNDROME, AUTOSOMAL DOMINANT<br />
|
|
KID
|
|
</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/13/15?start=-3&limit=10&highlight=15">
|
|
13q12.11
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Keratitis-ichthyosis-deafness syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/148210"> 148210 </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">
|
|
GJB2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/121011"> 121011 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/148210" 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>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS148210" 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>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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/148210" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/148210" 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> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Sensorineural deafness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 /> -
|
|
Corneal ulceration <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91514001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91514001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H16.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H16.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H16.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/370.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">370.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/370.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">370.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010043&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010043</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012804" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012804</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012804" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012804</a>]</span><br /> -
|
|
Blindness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0456909&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0456909</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000618" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000618</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000618" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000618</a>]</span><br /> -
|
|
Superficial and deep corneal stromal vascularization with scarring <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835679&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835679</a>]</span><br /> -
|
|
Keratoconjunctivitis sicca <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/46152009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">46152009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302896008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302896008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H04.12" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H04.12</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022575&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022575</a>, <a href="https://bioportal.bioontology.org/search?q=C0013238&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013238</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001097</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001097</a>]</span><br /> -
|
|
Limbal stem cell insufficiency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835680&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835680</a>]</span><br /> -
|
|
Scant eyebrows <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835681&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835681</a>]</span><br /> -
|
|
Scant 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><br /> -
|
|
Thickened and keratinized eyelids <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835683&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835683</a>]</span><br /> -
|
|
Trichiasis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60332004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60332004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221259&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221259</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001128" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001128</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001128" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001128</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Scrotal tongue <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52368004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52368004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K14.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K14.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/529.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">529.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040412&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040412</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000221" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000221</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000221" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000221</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=fc1d7d26326124eb366ffd8d5e089b31" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Tongue,Furrowed-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=fc1d7d26326124eb366ffd8d5e089b31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Oral leukoplakia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414603003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414603003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K13.21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K13.21</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023532&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023532</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002745" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002745</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002745" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002745</a>]</span><br />
|
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</span>
|
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</div>
|
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Elbow contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/239734000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">239734000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.52</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833142&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833142</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034391" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034391</a>]</span><br /> -
|
|
Knee contractures <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.56" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.56</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837263&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837263</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034671" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034671</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034671" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034671</a>]</span><br />
|
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</span>
|
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</div>
|
|
</div>
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Tight heel cords <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5539659&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5539659</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033526" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033526</a>]</span><br /> -
|
|
Pes cavus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205091006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205091006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36755004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36755004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86900005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86900005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.73" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.73</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/754.71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.71</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0728829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0728829</a>, <a href="https://bioportal.bioontology.org/search?q=C0039273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039273</a>, <a href="https://bioportal.bioontology.org/search?q=C2239098&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2239098</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Pes_Cavus-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</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">
|
|
|
|
- Congenital erythrokeratodermia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835688&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835688</a>]</span><br /> -
|
|
Mild lamellar ichthyosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835689&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835689</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267372009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267372009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205550003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205550003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q80.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q80.2</a>]</span><br /> -
|
|
Hyperkeratosis (palms, soles, elbows, knees) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835690&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835690</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254666005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254666005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399955009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399955009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26996000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26996000</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000962" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000962</a>]</span><br /> -
|
|
Decreased sweating <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111980002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111980002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0553721&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0553721</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000966" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000966</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000966" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000966</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">
|
|
|
|
- Nail dystrophy, variable <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835691&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835691</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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hair </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Scant eyebrows <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835681&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835681</a>]</span><br /> -
|
|
Scant 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><br /> -
|
|
Scant scalp hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835692&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835692</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> IMMUNOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Recurrent cutaneous mycoses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835685&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835685</a>]</span><br /> -
|
|
Recurrent bacterial skin infections <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835686&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835686</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005406" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005406</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005406" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005406</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEOPLASIA </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
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- Squamous cell carcinoma (skin and tongue) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835684&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835684</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162767002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162767002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/402815007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">402815007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002860" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002860</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- KID is an acronym of Keratitis, Ichthyosis, Deafness<br /> -
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HID (Hystrix-like Ichthyosis with Deafness, <a href="/entry/602540">602540</a>) is identical to KID at the molecular level<br /> -
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Onset - present at birth<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the gap junction protein, beta 2 gene (GJB2, <a href="/entry/121011#0020">121011.0020</a>)<br />
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Keratitis-ichthyosis-deafness syndrome
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- <a href="/phenotypicSeries/PS148210">PS148210</a>
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- 2 Entries
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<strong>Inheritance</strong>
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<strong>Phenotype<br />mapping key</strong>
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<strong>Phenotype<br />MIM number</strong>
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<a href="/geneMap/13/15?start=-3&limit=10&highlight=15"> 13q12.11 </a>
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<span class="mim-font">
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<a href="/entry/148210"> Keratitis-ichthyosis-deafness syndrome </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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/148210"> 148210 </a>
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<a href="/entry/121011"> GJB2 </a>
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<a href="/entry/121011"> 121011 </a>
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<a href="/geneMap/22/149?start=-3&limit=10&highlight=149"> 22q12.2 </a>
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<span class="mim-font">
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<a href="/entry/242150"> Keratitis-ichthyosis-deafness syndrome, autosomal recessive </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/242150"> 242150 </a>
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<a href="/entry/600157"> AP1B1 </a>
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<a href="/entry/600157"> 600157 </a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant keratitis-ichthyosis-deafness syndrome (KIDAD) is caused by heterozygous mutation in the connexin-26 gene (GJB2; <a href="/entry/121011">121011</a>) on chromosome 13q12.</p>
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<strong>Description</strong>
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<p>Keratitis-ichthyosis-deafness (KID) syndrome is a rare ectodermal dysplasia characterized by sensorineural hearing loss, photophobia and corneal vascularization, hyperkeratosis of the palms and soles, erythrokeratoderma, follicular hyperkeratosis, and recurrent bacterial and fungal infections. A subset of patients with KID may develop multiple cystic pilar tumors, which are prone to malignant transformation and metastasis (<a href="#13" class="mim-tip-reference" title="Nyquist, G. G., Mumm, C., Grau, R., Crowson, A. N., Shurman, D. L., Benedetto, P., Allen, P., Lovelace, K., Smith, D. W., Frieden, I., Hybarger, C. P., Richard, G. <strong>Malignant proliferating pilar tumors arising in KID syndrome: a report of two patients.</strong> Am. J. Med. Genet. 143A: 734-741, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17330861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17330861</a>] [<a href="https://doi.org/10.1002/ajmg.a.31635" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17330861">Nyquist et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17330861" 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>Vohwinkel syndrome (<a href="/entry/124500">124500</a>) is an allelic disorder involving congenital deafness with keratopachydermia and constrictions of fingers and toes. Another similar disorder caused by mutation in GJB2 is palmoplantar keratoderma with deafness (<a href="/entry/148350">148350</a>).</p><p><strong><em>Genetic Heterogeneity of Keratitis-Ichthyosis-Deafness Syndrome</em></strong></p><p>
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An autosomal recessive form of KID syndrome (KIDAR; <a href="/entry/242150">242150</a>) is caused by mutation in the AP1B1 gene (<a href="/entry/600157">600157</a>) on chromosome 22q12.</p>
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<strong>Clinical Features</strong>
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<p><a href="#6" class="mim-tip-reference" title="Grob, J. J., Breton, A., Bonafe, J. L., Sauvan-Ferdani, M., Bonerandi, J. J. <strong>Keratitis, ichthyosis, and deafness (KID) syndrome: vertical transmission and death from multiple squamous cell carcinomas.</strong> Arch. Derm. 123: 777-782, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3579358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3579358</a>]" pmid="3579358">Grob et al. (1987)</a> described KID syndrome in a father and daughter. In the father the disorder was complicated by fatal skin cancer. A second instance of familial occurrence was described by <a href="#12" class="mim-tip-reference" title="Nazzaro, V., Blanchet-Bardon, C., Lorette, G., Civatte, J. <strong>Familial occurrence of KID (keratitis, ichthyosis, deafness) syndrome: case reports of a mother and daughter.</strong> J. Am. Acad. Derm. 23: 385-388, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2394858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2394858</a>] [<a href="https://doi.org/10.1016/0190-9622(90)70229-b" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2394858">Nazzaro et al. (1990)</a> in a mother and daughter. The mother had progressive corneal opacification that required repeated bilateral corneal grafts, which were unsuccessful. <a href="#10" class="mim-tip-reference" title="Langer, K., Konrad, K., Wolff, K. <strong>Keratitis, ichthyosis and deafness (KID)-syndrome: report of three cases and a review of the literature.</strong> Brit. J. Derm. 122: 689-697, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2191710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2191710</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1990.tb07292.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2191710">Langer et al. (1990)</a> reported 3 patients who had the characteristic hyperkeratotic skin lesions and neurosensory hearing defects. Two had ophthalmologic manifestations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2191710+3579358+2394858" 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>Corneal epithelial defects, scarring, and neovascularization ('keratitis') cause progressive decline of visual acuity and may eventually lead to blindness. Congenital sensorineural hearing loss is generally severe and bilateral, although unilateral or moderate hearing impairment has been observed (<a href="#20" class="mim-tip-reference" title="Szymko-Bennett, Y. M., Russell, L. J., Bale, S. J., Griffith, A. J. <strong>Auditory manifestations of keratitis ichthyosis-deafness (KID) syndrome.</strong> Laryngoscope 112: 272-280, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11889383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11889383</a>] [<a href="https://doi.org/10.1097/00005537-200202000-00014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11889383">Szymko-Bennett et al., 2002</a>). Increased susceptibility to mucocutaneous infections is common and sometimes fatal in the neonatal period. Squamous cell carcinoma of the skin and oral mucosa is a rare but serious complication that can shorten life expectancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11889383" 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="#11" class="mim-tip-reference" title="Messmer, E. M., Kenyon, K. R., Rittinger, O., Janecke, A. R., Kampik, A. <strong>Ocular manifestations of keratitis--ichthyosis--deafness (KID) syndrome.</strong> Ophthalmology 112: e1, 2005. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15691545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15691545</a>] [<a href="https://doi.org/10.1016/j.ophtha.2004.07.034" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15691545">Messmer et al. (2005)</a> described the ocular manifestations in 3 patients with molecularly confirmed KID syndrome. The manifestations included loss of eyebrows and lashes, thickened and keratinized eyelids, trichiasis, recurrent corneal epithelial defects, superficial and deep corneal stromal vascularization with scarring, keratoconjunctivitis sicca, and in 1 patient, limbal insufficiency. Visual acuity ranged from normal to severe visual loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15691545" 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="#13" class="mim-tip-reference" title="Nyquist, G. G., Mumm, C., Grau, R., Crowson, A. N., Shurman, D. L., Benedetto, P., Allen, P., Lovelace, K., Smith, D. W., Frieden, I., Hybarger, C. P., Richard, G. <strong>Malignant proliferating pilar tumors arising in KID syndrome: a report of two patients.</strong> Am. J. Med. Genet. 143A: 734-741, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17330861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17330861</a>] [<a href="https://doi.org/10.1002/ajmg.a.31635" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17330861">Nyquist et al. (2007)</a> described 2 young adults with KID syndrome who developed malignant proliferating pilar tumors of the scalp. The first was a 32-year-old African American woman who had progressive, severe hidradenitis of the groin and dissecting cellulitis of the scalp, both recalcitrant to aggressive treatment with antibiotics and isotretinoin. Moderately differentiated squamous cell carcinoma was found in the area of the hidradenitis at 28 years of age and treated with surgical resection and adjuvant radiation and chemotherapy. Three years later, she underwent resection of a primary malignant proliferating pilar tumor of the scalp, with metastases found in 3 of 25 lymph nodes examined. The second patient was a 24-year-old man of mixed Japanese and African American background who developed an ulcerated scalp nodule at age 19 that appeared to be squamous cell carcinoma on biopsy. Histopathologic examination of multiple enlarging scalp nodules that developed over the next 6 months revealed a spectrum of disease from pilar cysts to proliferating pilar tumors, with some areas showing fully transformed malignant changes with an infiltrating pattern of growth. The patient continued to develop multiple masses of the scalp, which were treated with intralesional methotrexate, but he ultimately required subtotal full-thickness scalp resection; he later developed metastases to the lungs and the base of the skull and cavernous sinus, and despite whole brain radiation and systemic chemotherapy, died of his disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17330861" 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="#18" class="mim-tip-reference" title="Skinner, B. A., Greist, M. C., Norins, A. L. <strong>The keratitis, ichthyosis, and deafness (KID) syndrome.</strong> Arch. Derm. 117: 285-289, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7224657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7224657</a>]" pmid="7224657">Skinner et al. (1981)</a> proposed that the term KID syndrome be used for an entity that falls under the general heading of congenital ectodermal defects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7224657" 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="#15" class="mim-tip-reference" title="Richard, G., Rouan, F., Willoughby, C. E., Brown, N., Chung, P., Ryynanen, M., Jabs, E. W., Bale, S. J., DiGiovanna, J. J., Uitto, J., Russell, L. <strong>Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.</strong> Am. J. Hum. Genet. 70: 1341-1348, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11912510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11912510</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11912510[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/339986" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11912510">Richard et al. (2002)</a> confirmed autosomal dominant inheritance of a form of KID syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11912510" 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="#10" class="mim-tip-reference" title="Langer, K., Konrad, K., Wolff, K. <strong>Keratitis, ichthyosis and deafness (KID)-syndrome: report of three cases and a review of the literature.</strong> Brit. J. Derm. 122: 689-697, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2191710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2191710</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1990.tb07292.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2191710">Langer et al. (1990)</a> suggested spontaneous mutation as the basis of the disorder. <a href="#23" class="mim-tip-reference" title="Wilson, G. N., Squires, R. H., Jr., Weinberg, A. G. <strong>Keratitis, hepatitis, ichthyosis, and deafness: report and review of KID syndrome.</strong> Am. J. Med. Genet. 40: 255-259, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1951425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1951425</a>] [<a href="https://doi.org/10.1002/ajmg.1320400302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1951425">Wilson et al. (1991)</a> presented evidence for an autosomal dominant form of the KID syndrome as well as a recessive form (<a href="/entry/242150">242150</a>) that is associated with progressive cirrhosis and mental retardation. It seems likely that the patient of <a href="#17" class="mim-tip-reference" title="Senter, T. P., Jones, K. L., Sakati, N., Nyhan, W. L. <strong>Atypical ichthyosiform erythroderma and congenital neurosensory deafness--a distinct syndrome.</strong> J. Pediat. 92: 68-72, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/338874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">338874</a>] [<a href="https://doi.org/10.1016/s0022-3476(78)80073-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="338874">Senter et al. (1978)</a> had the autosomal dominant form of the disease, whereas the patient reported by <a href="#4" class="mim-tip-reference" title="Desmons, F., Bar, J., Chevillard, Y. <strong>Erythrodermie ichthyosiforme congenitale seche, surdi-mutite, hepatomegalie, de transmission recessive autosomique: etude d'une famille.</strong> Bull. Soc. Franc. Derm. Syph. 78: 585-588, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4119872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4119872</a>]" pmid="4119872">Desmons et al. (1971)</a> had the recessive form. A low incidence of affected sibs in reported cases and 2 sibships of 9 with only 1 affected member (<a href="#1" class="mim-tip-reference" title="Beare, J. M., Nevin, N. C., Froggatt, P., Kernohan, D. C., Allen, I. V. <strong>Atypical erythrokeratoderma with deafness, physical retardation and peripheral neuropathy.</strong> Brit. J. Derm. 87: 308-314, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4342731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4342731</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1972.tb07415.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4342731">Beare et al., 1972</a>; <a href="#3" class="mim-tip-reference" title="Cram, D. L., Resneck, J. S., Jackson, W. B. <strong>A congenital ichthyosiform syndrome with deafness and keratitis.</strong> Arch. Derm. 115: 467-471, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/434873/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">434873</a>]" pmid="434873">Cram et al., 1979</a>) support the existence of a dominant form. Familial occurrence was reported by <a href="#6" class="mim-tip-reference" title="Grob, J. J., Breton, A., Bonafe, J. L., Sauvan-Ferdani, M., Bonerandi, J. J. <strong>Keratitis, ichthyosis, and deafness (KID) syndrome: vertical transmission and death from multiple squamous cell carcinomas.</strong> Arch. Derm. 123: 777-782, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3579358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3579358</a>]" pmid="3579358">Grob et al. (1987)</a>, <a href="#12" class="mim-tip-reference" title="Nazzaro, V., Blanchet-Bardon, C., Lorette, G., Civatte, J. <strong>Familial occurrence of KID (keratitis, ichthyosis, deafness) syndrome: case reports of a mother and daughter.</strong> J. Am. Acad. Derm. 23: 385-388, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2394858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2394858</a>] [<a href="https://doi.org/10.1016/0190-9622(90)70229-b" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2394858">Nazzaro et al. (1990)</a>, and <a href="#9" class="mim-tip-reference" title="Kone-Paut, I., Hesse, S., Palix, C., Rey, R., Remediani, K., Garnier, J. M., Berbis, P. <strong>Keratitis, ichthyosis, and deafness (KID) syndrome in half sibs.</strong> Pediat. Derm. 15: 219-221, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9655320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9655320</a>] [<a href="https://doi.org/10.1046/j.1525-1470.1998.1998015219.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9655320">Kone-Paut et al. (1998)</a>, among others. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2394858+4119872+1951425+434873+2191710+3579358+9655320+4342731+338874" 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="#16" class="mim-tip-reference" title="Sbidian, E., Feldmann, D., Bengoa, J., Fraitag, S., Abadie, V., de Prost, Y., Bodemer, C., Hadj-Rabia, S. <strong>Germline mosaicism in keratitis-ichthyosis-deafness syndrome: pre-natal diagnosis in a familial lethal form.</strong> Clin. Genet. 77: 587-592, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20412116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20412116</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01339.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20412116">Sbidian et al. (2010)</a> reported an African family in which the lethal form of KID syndrome occurred in 2 dizygotic twins and in their brother, all of whom carried the G45E mutation in the GJB2 gene (<a href="/entry/121011#0033">121011.0033</a>). The father was completely unaffected, whereas the mother showed palmoplantar keratoderma. Neither parent carried the mutation in the blood, and the mutation was absent from a skin biopsy from the mother, suggesting germline mosaicism. The 3 sibs inherited the same maternal GJB2 allele, which was also found prenatally in a fourth affected sib. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20412116" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#16" class="mim-tip-reference" title="Sbidian, E., Feldmann, D., Bengoa, J., Fraitag, S., Abadie, V., de Prost, Y., Bodemer, C., Hadj-Rabia, S. <strong>Germline mosaicism in keratitis-ichthyosis-deafness syndrome: pre-natal diagnosis in a familial lethal form.</strong> Clin. Genet. 77: 587-592, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20412116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20412116</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01339.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20412116">Sbidian et al. (2010)</a> reported prenatal diagnosis of the lethal form of KID syndrome by chorionic villus biopsy with detection of the G45E mutation in the GJB2 gene in a family with recurrence of the disorder in 3 older sibs. The 3 older sibs presented at birth with dysmorphic features, including scaphocephaly, asymmetrical ears, almond-shaped eyes, short nose and philtrum, anteverted nostrils, thin upper lip, hypertrophic gums, short and large fingers, and single palmar crease. All had ichthyosiform erythrodermal skin, painful bathing-trunk pachydermia, palmoplantar keratoderma, dystrophic nails, complete atrichia with keratosis pilaris, and congenital absence of the foreskin. One patient also had edema and dyskeratotic laryngeal mucosa. All showed failure to thrive, suggesting a digestive disorder. Skin biopsies from 2 patients showed compact orthokeratotic hyperkeratosis associated with epidermal hyperplasia and acanthosis, with decreased or absent granular layer. In 1 patient, biopsy showed acanthosis and swollen keratinocytes. All died of infection by age 5 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20412116" 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="#2" class="mim-tip-reference" title="Caceres-Rios, H., Tamayo-Sanchez, L., Duran-McKinster, C., de la Luz Orozco, M., Ruiz-Maldonado, R. <strong>Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology.</strong> Pediat. Derm. 13: 105-113, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9122065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9122065</a>] [<a href="https://doi.org/10.1111/j.1525-1470.1996.tb01414.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9122065">Caceres-Rios et al. (1996)</a> stated that approximately 70 cases, most of them sporadic, had been reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9122065" 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 Dutch woman with KID syndrome, <a href="#22" class="mim-tip-reference" title="van Steensel, M. A. M., van Geel, M., Nahuys, M., Smitt, J. H. S., Steijlen, P. M. <strong>A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome.</strong> J. Invest. Derm. 118: 724-727, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11918723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11918723</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2002.01735.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11918723">Van Steensel et al. (2002)</a> analyzed 6 candidate connexin genes and identified a de novo missense mutation (D50N; <a href="/entry/121011#0020">121011.0020</a>) in the GJB2 gene. The mutation was not found in 164 control alleles or in her unaffected mother or 4 unaffected sibs; DNA from the deceased father was unavailable. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11918723" 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="#15" class="mim-tip-reference" title="Richard, G., Rouan, F., Willoughby, C. E., Brown, N., Chung, P., Ryynanen, M., Jabs, E. W., Bale, S. J., DiGiovanna, J. J., Uitto, J., Russell, L. <strong>Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.</strong> Am. J. Hum. Genet. 70: 1341-1348, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11912510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11912510</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11912510[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/339986" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11912510">Richard et al. (2002)</a> provided compelling evidence that KID is caused by heterozygous missense mutations in the connexin-26 gene. In each of 10 patients with this syndrome, they identified a point mutation leading to substitution of conserved residues in the cytoplasmic amino terminus or first extracellular domain of CX26. One of these mutations was detected in 6 unrelated sporadic case subjects and also segregated in 1 family with vertical transmission of KID (<a href="/entry/121011#0020">121011.0020</a>). This result indicated the presence of a common, recurrent mutation and established its autosomal dominant nature. They found that mutant CX26 was incapable of inducing intercellular coupling in vitro, which indicated its functional impairment. Decreased host defense and increased carcinogenic potential in KID illustrated that gap junction communication plays not only a crucial role in epithelial homeostasis and differentiation but also in immune response and epidermal carcinogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11912510" 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="#19" class="mim-tip-reference" title="Sonoda, S., Uchino, E., Sonoda, K.-H., Yotsumoto, S., Uchio, E., Isashiki, Y., Sakamoto, T. <strong>Two patients with severe corneal disease in KID syndrome.</strong> Am. J. Ophthal. 137: 181-183, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14700667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14700667</a>] [<a href="https://doi.org/10.1016/s0002-9394(03)00739-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14700667">Sonoda et al. (2004)</a> reported the ocular findings, clinical course, and treatment regimen for 2 Japanese patients with KID syndrome. One patient was found to have an asp50-to-tyr mutation in the GJB2 gene (D50Y; <a href="/entry/121011#0027">121011.0027</a>); the other had no pathologic mutation in the GJB2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14700667" 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 fatal course of KID syndrome in the first year of life, due to severe infections of the skin lesions and septicemia, was reported in at least 5 patients (<a href="#5" class="mim-tip-reference" title="Gilliam, A., Williams, M. L. <strong>Fatal septicemia in an infant with keratitis, ichthyosis, and deafness (KID) syndrome.</strong> Pediat. Derm. 19: 232-236, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12047643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12047643</a>] [<a href="https://doi.org/10.1046/j.1525-1470.2002.00075.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12047643">Gilliam and Williams, 2002</a>). In 3 Austrian patients with KID syndrome, <a href="#8" class="mim-tip-reference" title="Janecke, A. R., Hennies, H. C., Gunther, B., Gansl, G., Smolle, J., Messmer, E. M., Utermann, G., Rittinger, O. <strong>GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.</strong> Am. J. Med. Genet. 133A: 128-131, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15633193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15633193</a>] [<a href="https://doi.org/10.1002/ajmg.a.30515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15633193">Janecke et al. (2005)</a> identified the D50N mutation in the GJB2 gene. In an Austrian patient with the fatal form of KID syndrome, they identified a gly45-to-glu mutation in the GJB2 gene (G45E; <a href="/entry/121011#0033">121011.0033</a>) and a common polymorphism in the GJB3 gene (a 798C-T transition). <a href="#8" class="mim-tip-reference" title="Janecke, A. R., Hennies, H. C., Gunther, B., Gansl, G., Smolle, J., Messmer, E. M., Utermann, G., Rittinger, O. <strong>GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.</strong> Am. J. Med. Genet. 133A: 128-131, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15633193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15633193</a>] [<a href="https://doi.org/10.1002/ajmg.a.30515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15633193">Janecke et al. (2005)</a> noted that the G45E mutation had not previously been reported in Caucasian patients; however, it was the third most common GJB2 mutation in Japanese patients with autosomal recessive nonsyndromic hearing loss, occurring 16% of disease alleles (<a href="#14" class="mim-tip-reference" title="Ohtsuka, A., Yuge, I., Kimura, S., Namba, A., Abe, S., Van Laer, L., Van Camp, G., Usami, S. <strong>GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.</strong> Hum. Genet. 112: 329-333, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12560944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12560944</a>] [<a href="https://doi.org/10.1007/s00439-002-0889-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12560944">Ohtsuka et al., 2003</a>). <a href="#8" class="mim-tip-reference" title="Janecke, A. R., Hennies, H. C., Gunther, B., Gansl, G., Smolle, J., Messmer, E. M., Utermann, G., Rittinger, O. <strong>GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.</strong> Am. J. Med. Genet. 133A: 128-131, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15633193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15633193</a>] [<a href="https://doi.org/10.1002/ajmg.a.30515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15633193">Janecke et al. (2005)</a> stated that their findings suggested different modes of action of the same GJB2 mutation that are dependent on genetic background and that this hypothesis was substantiated by their observation of a variable clinical course in patients harboring the D50N mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12047643+15633193+12560944" 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="#13" class="mim-tip-reference" title="Nyquist, G. G., Mumm, C., Grau, R., Crowson, A. N., Shurman, D. L., Benedetto, P., Allen, P., Lovelace, K., Smith, D. W., Frieden, I., Hybarger, C. P., Richard, G. <strong>Malignant proliferating pilar tumors arising in KID syndrome: a report of two patients.</strong> Am. J. Med. Genet. 143A: 734-741, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17330861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17330861</a>] [<a href="https://doi.org/10.1002/ajmg.a.31635" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17330861">Nyquist et al. (2007)</a> analyzed the GJB2 gene in 2 young adults with KID syndrome who developed malignant proliferating pilar tumors of the scalp and identified heterozygosity for the common D50N mutation in a 32-year-old African American woman. In a 24-year-old man of mixed Japanese and African American background, they identified homozygosity for a glu114-to-gly change and heterozygosity for a val27-to-ile change in the GJB2 gene, both of which are known polymorphisms in Asian individuals; no mutation was found in the GJB3, GJB4, GJB5, or GJB6 genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17330861" 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="Titeux, M., Mendonca, V., Decha, A., Moreira, E., Magina, S., Maia, A., Lacaze-Buzy, L., Mejia, J. E., Torrao, L., Carvalho, F., Eca-Guimaraes, J., Hovnanian, A. <strong>Keratitis-ichthyosis-deafness syndrome caused by GJB2 maternal mosaicism. (Letter)</strong> J. Invest. Derm. 129: 776-779, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18843290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18843290</a>] [<a href="https://doi.org/10.1038/jid.2008.312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18843290">Titeux et al. (2009)</a> reported a Portuguese boy with KID syndrome who was heterozygous for the known D50N mutation in the GJB2 gene (<a href="/entry/121011#0020">121011.0020</a>). His mother, who had bilateral hyperkeratotic hyperpigmented linear cutaneous lesions on the chest, shoulders, and back along Blaschko lines, consistent with type 1 segmental manifestations (see <a href="/entry/113800">113800</a> and <a href="#7" class="mim-tip-reference" title="Happle, R. <strong>A rule concerning the segmental manifestation of autosomal dominant skin disorders: review of clinical examples providing evidence for dichotomous types of severity.</strong> Arch. Derm. 133: 1505-1509, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9420534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9420534</a>]" pmid="9420534">Happle, 1997</a>), was found to be mosaic for the mutation. The boy also had nystagmus, generalized hypotonia, and spastic tetraparesia, and MRI revealed hypoplasia of the cerebellar vermis; <a href="#21" class="mim-tip-reference" title="Titeux, M., Mendonca, V., Decha, A., Moreira, E., Magina, S., Maia, A., Lacaze-Buzy, L., Mejia, J. E., Torrao, L., Carvalho, F., Eca-Guimaraes, J., Hovnanian, A. <strong>Keratitis-ichthyosis-deafness syndrome caused by GJB2 maternal mosaicism. (Letter)</strong> J. Invest. Derm. 129: 776-779, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18843290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18843290</a>] [<a href="https://doi.org/10.1038/jid.2008.312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18843290">Titeux et al. (2009)</a> stated that cerebellar and neuromuscular defects had been reported previously in only a few cases of KID syndrome (<a href="#2" class="mim-tip-reference" title="Caceres-Rios, H., Tamayo-Sanchez, L., Duran-McKinster, C., de la Luz Orozco, M., Ruiz-Maldonado, R. <strong>Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology.</strong> Pediat. Derm. 13: 105-113, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9122065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9122065</a>] [<a href="https://doi.org/10.1111/j.1525-1470.1996.tb01414.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9122065">Caceres-Rios et al., 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18843290+9420534+9122065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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[<a href="https://doi.org/10.1111/j.1365-2133.1972.tb07415.x" target="_blank">Full Text</a>]
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Caceres-Rios, H., Tamayo-Sanchez, L., Duran-McKinster, C., de la Luz Orozco, M., Ruiz-Maldonado, R.
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<strong>Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology.</strong>
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Pediat. Derm. 13: 105-113, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9122065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9122065</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9122065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1525-1470.1996.tb01414.x" target="_blank">Full Text</a>]
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Cram, D. L., Resneck, J. S., Jackson, W. B.
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Arch. Derm. 115: 467-471, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/434873/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">434873</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=434873" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Erythrodermie ichthyosiforme congenitale seche, surdi-mutite, hepatomegalie, de transmission recessive autosomique: etude d'une famille.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4119872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4119872</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4119872" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Fatal septicemia in an infant with keratitis, ichthyosis, and deafness (KID) syndrome.</strong>
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Pediat. Derm. 19: 232-236, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12047643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12047643</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12047643" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.1525-1470.2002.00075.x" target="_blank">Full Text</a>]
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<strong>Keratitis, ichthyosis, and deafness (KID) syndrome: vertical transmission and death from multiple squamous cell carcinomas.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3579358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3579358</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3579358" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Happle, R.
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<strong>A rule concerning the segmental manifestation of autosomal dominant skin disorders: review of clinical examples providing evidence for dichotomous types of severity.</strong>
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Arch. Derm. 133: 1505-1509, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9420534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9420534</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9420534" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Janecke, A. R., Hennies, H. C., Gunther, B., Gansl, G., Smolle, J., Messmer, E. M., Utermann, G., Rittinger, O.
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<strong>GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.</strong>
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Am. J. Med. Genet. 133A: 128-131, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15633193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15633193</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15633193" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30515" target="_blank">Full Text</a>]
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Kone-Paut, I., Hesse, S., Palix, C., Rey, R., Remediani, K., Garnier, J. M., Berbis, P.
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<strong>Keratitis, ichthyosis, and deafness (KID) syndrome in half sibs.</strong>
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Pediat. Derm. 15: 219-221, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9655320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9655320</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9655320" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.1525-1470.1998.1998015219.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1365-2133.1990.tb07292.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.ophtha.2004.07.034" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0190-9622(90)70229-b" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.31635" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s00439-002-0889-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/339986" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2009.01339.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(78)80073-0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0002-9394(03)00739-6" target="_blank">Full Text</a>]
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<strong>Auditory manifestations of keratitis ichthyosis-deafness (KID) syndrome.</strong>
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Titeux, M., Mendonca, V., Decha, A., Moreira, E., Magina, S., Maia, A., Lacaze-Buzy, L., Mejia, J. E., Torrao, L., Carvalho, F., Eca-Guimaraes, J., Hovnanian, A.
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[<a href="https://doi.org/10.1038/jid.2008.312" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1046/j.1523-1747.2002.01735.x" target="_blank">Full Text</a>]
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Wilson, G. N., Squires, R. H., Jr., Weinberg, A. G.
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<strong>Keratitis, hepatitis, ichthyosis, and deafness: report and review of KID syndrome.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1951425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1951425</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1951425" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320400302" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 01/16/2020
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Marla J. F. O'Neill - updated : 4/27/2012<br>Cassandra L. Kniffin - updated : 12/21/2011<br>Marla J. F. O'Neill - updated : 8/12/2009<br>Marla J. F. O'Neill - updated : 6/7/2007<br>Jane Kelly - updated : 11/17/2005<br>Victor A. McKusick - updated : 3/23/2005<br>Jane Kelly - updated : 3/18/2004<br>Gary A. Bellus - updated : 7/8/2002<br>Victor A. McKusick - updated : 5/17/2002<br>Victor A. McKusick - updated : 4/15/1998
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Victor A. McKusick : 7/7/1987
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carol : 01/17/2020<br>carol : 01/16/2020<br>carol : 06/07/2019<br>carol : 06/06/2019<br>carol : 06/01/2016<br>carol : 4/27/2012<br>carol : 12/22/2011<br>ckniffin : 12/21/2011<br>carol : 12/20/2011<br>wwang : 9/2/2009<br>terry : 8/12/2009<br>carol : 7/27/2007<br>wwang : 6/14/2007<br>terry : 6/7/2007<br>carol : 11/17/2005<br>tkritzer : 3/24/2005<br>terry : 3/23/2005<br>tkritzer : 3/18/2004<br>alopez : 7/8/2002<br>alopez : 6/5/2002<br>alopez : 6/5/2002<br>terry : 5/17/2002<br>carol : 4/18/1998<br>terry : 4/15/1998<br>mimadm : 11/5/1994<br>carol : 11/12/1993<br>carol : 4/1/1992<br>supermim : 3/16/1992<br>carol : 10/25/1991<br>carol : 10/15/1991
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<span class="mim-font">
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<strong>#</strong> 148210
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KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT; KIDAD
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<em>Alternative titles; symbols</em>
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KID SYNDROME, AUTOSOMAL DOMINANT<br />
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KID
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<strong>SNOMEDCT:</strong> 2625009;
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<strong>ORPHA:</strong> 477;
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<strong>DO:</strong> 0060871;
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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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Keratitis-ichthyosis-deafness syndrome
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148210
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Autosomal dominant
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<span class="mim-font">
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3
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GJB2
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121011
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant keratitis-ichthyosis-deafness syndrome (KIDAD) is caused by heterozygous mutation in the connexin-26 gene (GJB2; 121011) on chromosome 13q12.</p>
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<strong>Description</strong>
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<p>Keratitis-ichthyosis-deafness (KID) syndrome is a rare ectodermal dysplasia characterized by sensorineural hearing loss, photophobia and corneal vascularization, hyperkeratosis of the palms and soles, erythrokeratoderma, follicular hyperkeratosis, and recurrent bacterial and fungal infections. A subset of patients with KID may develop multiple cystic pilar tumors, which are prone to malignant transformation and metastasis (Nyquist et al., 2007). </p><p>Vohwinkel syndrome (124500) is an allelic disorder involving congenital deafness with keratopachydermia and constrictions of fingers and toes. Another similar disorder caused by mutation in GJB2 is palmoplantar keratoderma with deafness (148350).</p><p><strong><em>Genetic Heterogeneity of Keratitis-Ichthyosis-Deafness Syndrome</em></strong></p><p>
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An autosomal recessive form of KID syndrome (KIDAR; 242150) is caused by mutation in the AP1B1 gene (600157) on chromosome 22q12.</p>
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<strong>Clinical Features</strong>
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<p>Grob et al. (1987) described KID syndrome in a father and daughter. In the father the disorder was complicated by fatal skin cancer. A second instance of familial occurrence was described by Nazzaro et al. (1990) in a mother and daughter. The mother had progressive corneal opacification that required repeated bilateral corneal grafts, which were unsuccessful. Langer et al. (1990) reported 3 patients who had the characteristic hyperkeratotic skin lesions and neurosensory hearing defects. Two had ophthalmologic manifestations. </p><p>Corneal epithelial defects, scarring, and neovascularization ('keratitis') cause progressive decline of visual acuity and may eventually lead to blindness. Congenital sensorineural hearing loss is generally severe and bilateral, although unilateral or moderate hearing impairment has been observed (Szymko-Bennett et al., 2002). Increased susceptibility to mucocutaneous infections is common and sometimes fatal in the neonatal period. Squamous cell carcinoma of the skin and oral mucosa is a rare but serious complication that can shorten life expectancy. </p><p>Messmer et al. (2005) described the ocular manifestations in 3 patients with molecularly confirmed KID syndrome. The manifestations included loss of eyebrows and lashes, thickened and keratinized eyelids, trichiasis, recurrent corneal epithelial defects, superficial and deep corneal stromal vascularization with scarring, keratoconjunctivitis sicca, and in 1 patient, limbal insufficiency. Visual acuity ranged from normal to severe visual loss. </p><p>Nyquist et al. (2007) described 2 young adults with KID syndrome who developed malignant proliferating pilar tumors of the scalp. The first was a 32-year-old African American woman who had progressive, severe hidradenitis of the groin and dissecting cellulitis of the scalp, both recalcitrant to aggressive treatment with antibiotics and isotretinoin. Moderately differentiated squamous cell carcinoma was found in the area of the hidradenitis at 28 years of age and treated with surgical resection and adjuvant radiation and chemotherapy. Three years later, she underwent resection of a primary malignant proliferating pilar tumor of the scalp, with metastases found in 3 of 25 lymph nodes examined. The second patient was a 24-year-old man of mixed Japanese and African American background who developed an ulcerated scalp nodule at age 19 that appeared to be squamous cell carcinoma on biopsy. Histopathologic examination of multiple enlarging scalp nodules that developed over the next 6 months revealed a spectrum of disease from pilar cysts to proliferating pilar tumors, with some areas showing fully transformed malignant changes with an infiltrating pattern of growth. The patient continued to develop multiple masses of the scalp, which were treated with intralesional methotrexate, but he ultimately required subtotal full-thickness scalp resection; he later developed metastases to the lungs and the base of the skull and cavernous sinus, and despite whole brain radiation and systemic chemotherapy, died of his disease. </p>
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<strong>Nomenclature</strong>
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<p>Skinner et al. (1981) proposed that the term KID syndrome be used for an entity that falls under the general heading of congenital ectodermal defects. </p>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</h4>
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<p>Richard et al. (2002) confirmed autosomal dominant inheritance of a form of KID syndrome. </p><p>Langer et al. (1990) suggested spontaneous mutation as the basis of the disorder. Wilson et al. (1991) presented evidence for an autosomal dominant form of the KID syndrome as well as a recessive form (242150) that is associated with progressive cirrhosis and mental retardation. It seems likely that the patient of Senter et al. (1978) had the autosomal dominant form of the disease, whereas the patient reported by Desmons et al. (1971) had the recessive form. A low incidence of affected sibs in reported cases and 2 sibships of 9 with only 1 affected member (Beare et al., 1972; Cram et al., 1979) support the existence of a dominant form. Familial occurrence was reported by Grob et al. (1987), Nazzaro et al. (1990), and Kone-Paut et al. (1998), among others. </p><p>Sbidian et al. (2010) reported an African family in which the lethal form of KID syndrome occurred in 2 dizygotic twins and in their brother, all of whom carried the G45E mutation in the GJB2 gene (121011.0033). The father was completely unaffected, whereas the mother showed palmoplantar keratoderma. Neither parent carried the mutation in the blood, and the mutation was absent from a skin biopsy from the mother, suggesting germline mosaicism. The 3 sibs inherited the same maternal GJB2 allele, which was also found prenatally in a fourth affected sib. </p>
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<strong>Diagnosis</strong>
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<p><strong><em>Prenatal Diagnosis</em></strong></p><p>
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Sbidian et al. (2010) reported prenatal diagnosis of the lethal form of KID syndrome by chorionic villus biopsy with detection of the G45E mutation in the GJB2 gene in a family with recurrence of the disorder in 3 older sibs. The 3 older sibs presented at birth with dysmorphic features, including scaphocephaly, asymmetrical ears, almond-shaped eyes, short nose and philtrum, anteverted nostrils, thin upper lip, hypertrophic gums, short and large fingers, and single palmar crease. All had ichthyosiform erythrodermal skin, painful bathing-trunk pachydermia, palmoplantar keratoderma, dystrophic nails, complete atrichia with keratosis pilaris, and congenital absence of the foreskin. One patient also had edema and dyskeratotic laryngeal mucosa. All showed failure to thrive, suggesting a digestive disorder. Skin biopsies from 2 patients showed compact orthokeratotic hyperkeratosis associated with epidermal hyperplasia and acanthosis, with decreased or absent granular layer. In 1 patient, biopsy showed acanthosis and swollen keratinocytes. All died of infection by age 5 months. </p>
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<strong>Population Genetics</strong>
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<p>Caceres-Rios et al. (1996) stated that approximately 70 cases, most of them sporadic, had been reported. </p>
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<strong>Molecular Genetics</strong>
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<p>In a Dutch woman with KID syndrome, Van Steensel et al. (2002) analyzed 6 candidate connexin genes and identified a de novo missense mutation (D50N; 121011.0020) in the GJB2 gene. The mutation was not found in 164 control alleles or in her unaffected mother or 4 unaffected sibs; DNA from the deceased father was unavailable. </p><p>Richard et al. (2002) provided compelling evidence that KID is caused by heterozygous missense mutations in the connexin-26 gene. In each of 10 patients with this syndrome, they identified a point mutation leading to substitution of conserved residues in the cytoplasmic amino terminus or first extracellular domain of CX26. One of these mutations was detected in 6 unrelated sporadic case subjects and also segregated in 1 family with vertical transmission of KID (121011.0020). This result indicated the presence of a common, recurrent mutation and established its autosomal dominant nature. They found that mutant CX26 was incapable of inducing intercellular coupling in vitro, which indicated its functional impairment. Decreased host defense and increased carcinogenic potential in KID illustrated that gap junction communication plays not only a crucial role in epithelial homeostasis and differentiation but also in immune response and epidermal carcinogenesis. </p><p>Sonoda et al. (2004) reported the ocular findings, clinical course, and treatment regimen for 2 Japanese patients with KID syndrome. One patient was found to have an asp50-to-tyr mutation in the GJB2 gene (D50Y; 121011.0027); the other had no pathologic mutation in the GJB2 gene. </p><p>A fatal course of KID syndrome in the first year of life, due to severe infections of the skin lesions and septicemia, was reported in at least 5 patients (Gilliam and Williams, 2002). In 3 Austrian patients with KID syndrome, Janecke et al. (2005) identified the D50N mutation in the GJB2 gene. In an Austrian patient with the fatal form of KID syndrome, they identified a gly45-to-glu mutation in the GJB2 gene (G45E; 121011.0033) and a common polymorphism in the GJB3 gene (a 798C-T transition). Janecke et al. (2005) noted that the G45E mutation had not previously been reported in Caucasian patients; however, it was the third most common GJB2 mutation in Japanese patients with autosomal recessive nonsyndromic hearing loss, occurring 16% of disease alleles (Ohtsuka et al., 2003). Janecke et al. (2005) stated that their findings suggested different modes of action of the same GJB2 mutation that are dependent on genetic background and that this hypothesis was substantiated by their observation of a variable clinical course in patients harboring the D50N mutation. </p><p>Nyquist et al. (2007) analyzed the GJB2 gene in 2 young adults with KID syndrome who developed malignant proliferating pilar tumors of the scalp and identified heterozygosity for the common D50N mutation in a 32-year-old African American woman. In a 24-year-old man of mixed Japanese and African American background, they identified homozygosity for a glu114-to-gly change and heterozygosity for a val27-to-ile change in the GJB2 gene, both of which are known polymorphisms in Asian individuals; no mutation was found in the GJB3, GJB4, GJB5, or GJB6 genes. </p><p>Titeux et al. (2009) reported a Portuguese boy with KID syndrome who was heterozygous for the known D50N mutation in the GJB2 gene (121011.0020). His mother, who had bilateral hyperkeratotic hyperpigmented linear cutaneous lesions on the chest, shoulders, and back along Blaschko lines, consistent with type 1 segmental manifestations (see 113800 and Happle, 1997), was found to be mosaic for the mutation. The boy also had nystagmus, generalized hypotonia, and spastic tetraparesia, and MRI revealed hypoplasia of the cerebellar vermis; Titeux et al. (2009) stated that cerebellar and neuromuscular defects had been reported previously in only a few cases of KID syndrome (Caceres-Rios et al., 1996). </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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<p />
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<p class="mim-text-font">
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Beare, J. M., Nevin, N. C., Froggatt, P., Kernohan, D. C., Allen, I. V.
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<strong>Atypical erythrokeratoderma with deafness, physical retardation and peripheral neuropathy.</strong>
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Brit. J. Derm. 87: 308-314, 1972.
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[PubMed: 4342731]
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[Full Text: https://doi.org/10.1111/j.1365-2133.1972.tb07415.x]
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<p class="mim-text-font">
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Caceres-Rios, H., Tamayo-Sanchez, L., Duran-McKinster, C., de la Luz Orozco, M., Ruiz-Maldonado, R.
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<strong>Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology.</strong>
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Pediat. Derm. 13: 105-113, 1996.
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[PubMed: 9122065]
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[Full Text: https://doi.org/10.1111/j.1525-1470.1996.tb01414.x]
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<p class="mim-text-font">
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Cram, D. L., Resneck, J. S., Jackson, W. B.
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<strong>A congenital ichthyosiform syndrome with deafness and keratitis.</strong>
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Arch. Derm. 115: 467-471, 1979.
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[PubMed: 434873]
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<li>
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<p class="mim-text-font">
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Desmons, F., Bar, J., Chevillard, Y.
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<strong>Erythrodermie ichthyosiforme congenitale seche, surdi-mutite, hepatomegalie, de transmission recessive autosomique: etude d'une famille.</strong>
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Bull. Soc. Franc. Derm. Syph. 78: 585-588, 1971.
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[PubMed: 4119872]
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<li>
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<p class="mim-text-font">
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Gilliam, A., Williams, M. L.
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<strong>Fatal septicemia in an infant with keratitis, ichthyosis, and deafness (KID) syndrome.</strong>
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Pediat. Derm. 19: 232-236, 2002.
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[PubMed: 12047643]
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[Full Text: https://doi.org/10.1046/j.1525-1470.2002.00075.x]
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<li>
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<p class="mim-text-font">
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Grob, J. J., Breton, A., Bonafe, J. L., Sauvan-Ferdani, M., Bonerandi, J. J.
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<strong>Keratitis, ichthyosis, and deafness (KID) syndrome: vertical transmission and death from multiple squamous cell carcinomas.</strong>
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Arch. Derm. 123: 777-782, 1987.
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[PubMed: 3579358]
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<li>
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