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- #305600 - FOCAL DERMAL HYPOPLASIA; FDH
- OMIM
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<span class="h4">#305600</span>
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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="/clinicalSynopsis/305600"><strong>Clinical Synopsis</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=FOCAL DERMAL HYPOPLASIA" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:2120" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/305600" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:2120" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:305600" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 205573006<br />
<strong>ORPHA:</strong> 2092<br />
<strong>DO:</strong> 2120<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
305600
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
FOCAL DERMAL HYPOPLASIA; FDH
</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">
FODH; DHOF<br />
GOLTZ SYNDROME<br />
GOLTZ-GORLIN SYNDROME
</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/X/248?start=-3&limit=10&highlight=248">
Xp11.23
</a>
</span>
</td>
<td>
<span class="mim-font">
Focal dermal hypoplasia
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/305600"> 305600 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</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">
PORCN
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300651"> 300651 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/305600" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<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/305600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/305600" 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">
- X-linked dominant <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847879&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847879</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Microcephaly, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836806&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836806</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040196" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040196</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Facial asymmetry <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13851000119109" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13851000119109</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15253005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15253005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1306710&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1306710</a>, <a href="https://bioportal.bioontology.org/search?q=C0546952&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0546952</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000324</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000324</a>]</span><br /> -
Pointed chin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844505&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844505</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000307</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000307</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7974ac288cfc8dbf20fe3f16a7844d32" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Chin,Pointed-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=7974ac288cfc8dbf20fe3f16a7844d32&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Protruding, simple ears <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844532&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844532</a>]</span><br /> -
Low-set ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95515009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95515009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239234&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239234</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ear,Low-Set-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Narrow auditory canals <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/301061006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">301061006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860248&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860248</a>, <a href="https://bioportal.bioontology.org/search?q=C0395837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0395837</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000402" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000402</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000402" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000402</a>]</span><br /> -
Hearing loss, mixed <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/77507001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">77507001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.8</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.20</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0155552&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0155552</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000410" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000410</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000410" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000410</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">
- Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br /> -
Iris coloboma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51485001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51485001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240063&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240063</a>, <a href="https://bioportal.bioontology.org/search?q=C0266551&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266551</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000612" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000612</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000612" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000612</a>]</span><br /> -
Aniridia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/69278003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">69278003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.45" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.45</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003076&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003076</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000526" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000526</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000526" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000526</a>]</span><br /> -
Microphthalmia (15%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204108000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204108000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61142002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61142002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q11.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q11.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026010&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026010</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span><br /> -
Anophthalmia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7183006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7183006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q11.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q11.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003119&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003119</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000528" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000528</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000528" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000528</a>]</span><br /> -
Choroidoretinal coloboma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39302008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39302008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q14.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q14.8</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.52</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240896&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240896</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000567" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000567</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000567" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000567</a>]</span><br /> -
Ectopia lentis (6%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74969002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74969002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q12.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q12.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.37" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.37</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013581</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001083</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001083</a>]</span><br /> -
Aniridia (3%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/69278003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">69278003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.45" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.45</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003076&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003076</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000526" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000526</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000526" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000526</a>]</span><br /> -
Optic atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/76976005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">76976005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/377.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/377.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029124&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029124</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span><br /> -
Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br /> -
Decreased visual acuity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13164000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234632&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234632</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Narrow nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551564&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551564</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000446" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000446</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000446" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000446</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=4851b8e2f8e95412788215794870d541" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nasal_Bridge,Narrow-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=4851b8e2f8e95412788215794870d541&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Broad nasal tip <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249327002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249327002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426429&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426429</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000455" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000455</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000455" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000455</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6ddac380d031baefd82dea5c5d13ca2a" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nasal_Tip,Broad-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=6ddac380d031baefd82dea5c5d13ca2a&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Notched nasal alae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844537&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844537</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003191" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003191</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003191" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003191</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">
- Papillomas (lip, gingiva) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844538</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/711329002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">711329002</a>]</span><br /> -
Cleft lip <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80281008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80281008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q36" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q36</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q36.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q36.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008924</a>, <a href="https://bioportal.bioontology.org/search?q=C4321245&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4321245</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000204" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000204</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0410030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410030</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0410030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410030</a>]</span><br /> -
Cleft palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837218</a>, <a href="https://bioportal.bioontology.org/search?q=C2981150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2981150</a>, <a href="https://bioportal.bioontology.org/search?q=C2240378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240378</a>, <a href="https://bioportal.bioontology.org/search?q=C0008925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Teeth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypodontia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64969001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64969001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020608&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020608</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000668</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000668</a>]</span><br /> -
Oligodontia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/787414001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">787414001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64969001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64969001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4082304&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4082304</a>, <a href="https://bioportal.bioontology.org/search?q=C0020608&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020608</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000668</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000677</a>]</span><br /> -
Enamel hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26597004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26597004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011351&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011351</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006297</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006297</a>]</span><br /> -
Delayed eruption <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5639000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5639000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239174&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239174</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000684</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000684</a>]</span><br /> -
Malocclusion <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/707598004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">707598004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/47944004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">47944004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000689" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000689</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000689" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000689</a>]</span><br /> -
Notched incisors <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844539&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844539</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Larynx </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Papillomatosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/82049002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">82049002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0205875&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0205875</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CHEST </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Ribs Sternum Clavicles & Scapulae </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Midclavicular aplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844529&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844529</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006638" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006638</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006638" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006638</a>]</span><br /> -
Midclavicular hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844530&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844530</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006608" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006608</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006608" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006608</a>]</span><br /> -
Rib hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/93291001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">93291001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249696007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249696007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426817</a>, <a href="https://bioportal.bioontology.org/search?q=C0685624&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0685624</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000773" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000773</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000773" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000773</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Breasts </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Supernumerary nipples <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50956007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50956007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q83.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q83.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266011&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266011</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002558" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002558</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002558" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002558</a>]</span><br /> -
Asymmetric breast <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271691008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271691008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0425779&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0425779</a>]</span><br /> -
Nipple hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/268290005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">268290005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0432355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0432355</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002557" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002557</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002557" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002557</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Diaphragm </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Diaphragmatic hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17190001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17190001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39839004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39839004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q79.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q79.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K44.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K44.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K44" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K44</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/553.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">553.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235833&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235833</a>, <a href="https://bioportal.bioontology.org/search?q=C0494752&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0494752</a>, <a href="https://bioportal.bioontology.org/search?q=C0019284&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019284</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000776" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000776</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000776" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000776</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Features </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Umbilical hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396347007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396347007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K42.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K42.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/553.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">553.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019322&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019322</a>, <a href="https://bioportal.bioontology.org/search?q=C0041636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0041636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001537</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001537</a>]</span><br /> -
Omphalocele <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18735004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18735004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q79.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q79.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/756.72" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">756.72</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0795690&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0795690</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001539" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001539</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001539" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001539</a>]</span><br /> -
Diastasis recti <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62629000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62629000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221766&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221766</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001540</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001540</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hiatus hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84089009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84089009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3489393&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3489393</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002036" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002036</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002036" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002036</a>]</span><br /> -
Anteriorly displaced anus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838705&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838705</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001545</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001545</a>]</span><br /> -
Intestinal malrotation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48641006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48641006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29980002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29980002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253789002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253789002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221210&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221210</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002566" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002566</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002566" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002566</a>]</span><br /> -
Esophageal papillomas <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844531&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844531</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Inguinal hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396232000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396232000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K40.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40.90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/550" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">550</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019294&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019294</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> External Genitalia (Female) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Clitoral hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844527&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844527</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000060" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000060</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000060" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000060</a>]</span><br /> -
Labial hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850325&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850325</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000066" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000066</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000066" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000066</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Internal Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cryptorchidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204878001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204878001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q53.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q53.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010417</a>, <a href="https://bioportal.bioontology.org/search?q=C5441920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441920</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Horseshoe kidney <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41729002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41729002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221353&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221353</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000085" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000085</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000085" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000085</a>]</span><br /> -
Hydronephrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43064006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43064006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.30</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/591" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">591</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020295</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ureters </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Bifid ureter <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3887498&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887498</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030037" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030037</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030037" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030037</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Skeletal asymmetry <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844540&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844540</a>]</span><br /> -
Joint laxity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298203008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298203008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/788453008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">788453008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862377</a>, <a href="https://bioportal.bioontology.org/search?q=C0086437&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086437</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Skull </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Asymmetric skull <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248372000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248372000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424690&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424690</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002678</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br /> -
Spina bifida occulta <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/76916001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">76916001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/756.17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">756.17</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0080174&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0080174</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003298" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003298</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003298" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003298</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Pelvis </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Failure of pubic bone fusion <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844542&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844542</a>]</span><br /> -
Congenital hip dislocation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52781008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52781008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48334007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48334007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q65.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q65.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551649&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551649</a>, <a href="https://bioportal.bioontology.org/search?q=C0019555&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019555</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001374" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001374</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001385</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001374" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001374</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Osteopathia striata <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/82663009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">82663009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265513&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265513</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010740" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010740</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010740" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010740</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Syndactyly (75%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/373413006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">373413006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2117411&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2117411</a>, <a href="https://bioportal.bioontology.org/search?q=C0039075&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039075</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Foot,Osseous_Syndactyly_of-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Brachydactyly (60%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43476002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43476002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221357&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221357</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span><br /> -
Oligodactyly (45%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71358006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71358006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0728895&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0728895</a>, <a href="https://bioportal.bioontology.org/search?q=C3887496&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887496</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012165" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012165</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012165" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012165</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dacbf5d96aa9e50fb1a64ebba7a6d2de" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/nGAzv9TaTE5zrNnSGCf9KDRuVhVKb45B-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=dacbf5d96aa9e50fb1a64ebba7a6d2de&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Ectrodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13624003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13624003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/81208006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">81208006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q71.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q71.6</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q71.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q71.60</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.58" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.58</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2931019&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2931019</a>, <a href="https://bioportal.bioontology.org/search?q=C0265554&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265554</a>, <a href="https://bioportal.bioontology.org/search?q=C2699510&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2699510</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001171" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001171</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0100257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100257</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100257</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=55c8d7d8f005af0ba3e1fd0632b2418a" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Foot,Split-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=55c8d7d8f005af0ba3e1fd0632b2418a&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Postaxial polydactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0220697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220697</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</a>]</span><br /> -
Short phalanges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0877165&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0877165</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009803" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009803</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009803" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009803</a>]</span><br /> -
Short metacarpal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837084&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837084</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010049</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010049</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bbffe73721c15b13e67a7f229d9c9acd" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Metacarpal,Short-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=bbffe73721c15b13e67a7f229d9c9acd&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short metatarsal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849020&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849020</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010743</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010743</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=55564bd51a04bb27891e7473147cf74e" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Metatarsal,Short-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=55564bd51a04bb27891e7473147cf74e&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Syndactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/373413006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">373413006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2117411&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2117411</a>, <a href="https://bioportal.bioontology.org/search?q=C0039075&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039075</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Foot,Osseous_Syndactyly_of-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Hypoplastic digits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844548&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844548</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009381" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009381</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009381" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009381</a>]</span><br /> -
Missing toes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4281601&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4281601</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001849" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001849</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001849" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001849</a>]</span><br /> -
Ectrodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13624003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13624003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/81208006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">81208006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q71.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q71.6</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q71.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q71.60</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.58" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.58</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2931019&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2931019</a>, <a href="https://bioportal.bioontology.org/search?q=C0265554&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265554</a>, <a href="https://bioportal.bioontology.org/search?q=C2699510&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2699510</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001171" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001171</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0100257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100257</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100257</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=55c8d7d8f005af0ba3e1fd0632b2418a" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Foot,Split-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=55c8d7d8f005af0ba3e1fd0632b2418a&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Polydactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/367506006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">367506006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q69.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q69.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q69" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q69</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/755.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152427&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152427</a>, <a href="https://bioportal.bioontology.org/search?q=C2117329&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2117329</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010442</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010442</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Linear or reticular hyperpigmentation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844549&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844549</a>]</span><br /> -
Skin atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400190005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400190005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L90.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L90.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004334" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004334</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004334" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004334</a>]</span><br /> -
Telangiectasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247479008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247479008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/112641009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">112641009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0039446&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039446</a>, <a href="https://bioportal.bioontology.org/search?q=C5848131&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5848131</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001009</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0034697" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034697</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001009</a>]</span><br /> -
Localized cutaneous deposits of superficial fat <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844550&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844550</a>]</span><br /> -
Arborescent papillomas (axillae, periumbilical area, anus, vulva) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844551&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844551</a>]</span><br /> -
Hypoplastic fingertip epidermal ridges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844552&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844552</a>]</span><br /> -
Hidrocystomas <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80549000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80549000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0206672&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0206672</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">
- Dystrophic nails (spooned, grooves) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844553&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844553</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 /> -
Absent fingernails <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844554&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844554</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001817" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001817</a>]</span><br /> -
Absent toenails <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844555&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844555</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001802" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001802</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001802" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001802</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">
- Sparse hair <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162675003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162675003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5551005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5551005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008070" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008070</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008070" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008070</a>]</span><br /> -
Brittle hair <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25159003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25159003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L67.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L67.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263490&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263490</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002299" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002299</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002299" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002299</a>]</span><br /> -
Patchy alopecia (head, pubic area) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844556&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844556</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002232" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002232</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Mental retardation (15%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
Myelomeningocele <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414667000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414667000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q05" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q05</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5781264&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5781264</a>, <a href="https://bioportal.bioontology.org/search?q=C0025312&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025312</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002475" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002475</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002475" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002475</a>]</span><br /> -
Hydrocephalus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230745008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230745008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020255&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020255</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span><br /> -
Agenesis of corpus callosum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5102002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5102002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q04.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q04.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0175754&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0175754</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001274</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001274</a>]</span><br /> -
Arnold-Chiari malformation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253184003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253184003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q07.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q07.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003803&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003803</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002308" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002308</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002308" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002308</a>]</span><br />
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- Majority of cases (95%) are sporadic<br /> -
Ninety percent of cases are female<br /> -
Affected males are all result of new mutation<br />
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- Caused by mutation in the porcupine O-acyltransferase gene (PORCN, <a href="/entry/300651#0001">300651.0001</a>)<br />
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<p>A number sign (#) is used with this entry because of evidence that focal dermal hypoplasia is caused by heterozygous mutation in the PORCN gene (<a href="/entry/300651">300651</a>) on chromosome Xp11.</p>
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<p>Focal dermal hypoplasia is inherited as an X-linked dominant with in utero lethality in males. The features include atrophy and linear pigmentation of the skin, herniation of fat through the dermal defects, and multiple papillomas of the mucous membranes or skin. In addition, digital anomalies consist of syndactyly, polydactyly, camptodactyly, and absence deformities. Oral anomalies, in addition to lip papillomas, include hypoplastic teeth. Ocular anomalies (coloboma of iris and choroid, strabismus, microphthalmia) have also been present in some cases. Mental retardation occurs in some patients. Striated bones are probably a nearly constant feature (<a href="#27" class="mim-tip-reference" title="Larregue, M., Duterque, M. &lt;strong&gt;Striated osteopathy in focal dermal hypoplasia.&lt;/strong&gt; Arch. Derm. 111: 1365 only, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1190805/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1190805&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archderm.1975.01630220129019&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1190805">Larregue and Duterque, 1975</a>; <a href="#22" class="mim-tip-reference" title="Happle, R., Lenz, W. &lt;strong&gt;Striation of bones in focal dermal hypoplasia: manifestation of functional mosaicism?&lt;/strong&gt; Brit. J. Derm. 96: 133-138, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/843447/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;843447&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1365-2133.1977.tb12534.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="843447">Happle and Lenz, 1977</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1190805+843447" 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>Reports from the International Research Symposium on Goltz Syndrome in 2013 were published in the American Journal of Medical Genetics; the authors and subjects of the reports are listed in an introduction by <a href="#8" class="mim-tip-reference" title="Fete, T. J., Fete, M. &lt;strong&gt;International Research Symposium on Goltz syndrome.&lt;/strong&gt; Am. J. Med. Genet. Part C Semin. Med. Genet. 172C: 3-6, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26834080/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;26834080&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.c.31475&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="26834080">Fete and Fete (2016)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26834080" 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="#13" class="mim-tip-reference" title="Goltz, R. W., Peterson, W. C., Jr., Gorlin, R. J., Ravits, H. G. &lt;strong&gt;Focal dermal hypoplasia.&lt;/strong&gt; Arch. Derm. 86: 708-717, 1962.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13948891/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13948891&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archderm.1962.01590120006002&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="13948891">Goltz et al. (1962)</a> reported 3 females with a disorder that they called focal dermal hypoplasia. They described the defect as congenital linear areas of thinning of the skin and herniations of adipose tissue in the form of yellowish papules. They identified 2 similar previously reported female patients. Additional features in some of the patients included cleft palate, syndactyly, polydactyly, nail and tooth deformities, ocular anomalies, and sparse hair. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13948891" 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>The mother of a female patient reported by <a href="#44" class="mim-tip-reference" title="Wodniansky, P. &lt;strong&gt;Ueber die Formen der congenitalen Poikilodermie.&lt;/strong&gt; Arch. Klin. Exp. Derm. 205: 331-342, 1957.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13522016/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13522016&lt;/a&gt;]" pmid="13522016">Wodniansky (1957)</a> had skin changes and a sister had bilateral syndactyly of the third and fourth fingers and toes. <a href="#41" class="mim-tip-reference" title="Warburg, M. &lt;strong&gt;Focal dermal hypoplasia. Ocular and general manifestations with a survey of the literature.&lt;/strong&gt; Acta Ophthal. 48: 525-536, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4990274/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4990274&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1755-3768.1970.tb03754.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4990274">Warburg (1970)</a> observed microphthalmos with bilateral coloboma of the iris and ectopia lentis in a patient with FDH. <a href="#7" class="mim-tip-reference" title="Ferguson-Smith, M. A. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Glasgow, Scotland 7/9/1981."None>Ferguson-Smith (1981)</a> observed a typically affected patient who had coloboma of the iris as a feature. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13522016+4990274" 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="#14" class="mim-tip-reference" title="Goltz, R. W. &lt;strong&gt;Focal dermal hypoplasia syndrome: an update. (Editorial)&lt;/strong&gt; Arch. Derm. 128: 1108-1111, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1497368/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1497368&lt;/a&gt;]" pmid="1497368">Goltz (1992)</a> reviewed the disorder that carries his name. Patients with areas of total absence of skin at birth have been reported. Apocrine gland anomalies and hydrocystomas near the eyes have been described in patients with FDH. Fibrovascular papillomas, particularly in the perineal, vulvar, and perianal regions, have been mistaken for warts and aroused questions about sexual activity or sexual abuse. They may attain massive size, their surfaces may become eroded, and bleeding may occur. Laryngeal papillomas requiring tracheostomy in one case and esophageal papillomas associated with stricture have been described. Longitudinal striation of the long bones, crossing the epiphyses (osteopathia striata), is a frequent finding. The combination of split hand with syndactyly and absence of rays, the so-called lobster-claw hand, has come to be recognized as a striking feature of FDH. Similar deformity may affect the foot. Although 'focal dermal hypoplasia' does not describe all the protean manifestations of the disorder, it is difficult to devise a designation that is better and, as in the case of many genetic and other clinical disorders, the name for the part is used as the name for the whole. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1497368" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Buchner, S. A., Itin, P. &lt;strong&gt;Focal dermal hypoplasia syndrome in a male patient: report of a case and histologic and immunohistochemical studies.&lt;/strong&gt; Arch. Derm. 128: 1078-1082, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1497362/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1497362&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archderm.1992.01680180072008&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1497362">Buchner and Itin (1992)</a> described typical FDH in a 68-year-old man. He had complete syndactyly between the third and fourth fingers of the right hand from birth. Other than the findings in the skin, <a href="#3" class="mim-tip-reference" title="Buchner, S. A., Itin, P. &lt;strong&gt;Focal dermal hypoplasia syndrome in a male patient: report of a case and histologic and immunohistochemical studies.&lt;/strong&gt; Arch. Derm. 128: 1078-1082, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1497362/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1497362&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archderm.1992.01680180072008&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1497362">Buchner and Itin (1992)</a> stated that 'results from the remainder of the physical examination were unremarkable.' Features consistent with Klinefelter syndrome were not described and karyotype was apparently not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1497362" 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="#26" class="mim-tip-reference" title="Landa, N., Oleaga, J. M., Raton, J. A., Gardeazabal, J., Diaz-Perez, J. L. &lt;strong&gt;Focal dermal hypoplasia (Goltz syndrome): an adult case with multisystemic involvement.&lt;/strong&gt; J. Am. Acad. Derm. 28: 86-89, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8425976/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8425976&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0190-9622(93)70015-l&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8425976">Landa et al. (1993)</a> described an unusual patient in whom the diagnosis of FDH was first made at the age of 39 years. She showed atrophic erythematous and hyperpigmented linear streaks following Blaschko lines, some of which were in a reticular or cribriform arrangement. Yellow, soft nodules caused by fat herniation were visible mainly in skin folds. The patient had multiple bone anomalies, including longitudinal striation of long bones (osteopathia striata). The left side of the body was generally underdeveloped, and the skin on the left showed more extensive changes than the right. There was coloboma of the left iris, subluxation of the left lens, and bilateral lenticular opacities. Syndactyly affected the second and third fingers of the right hand and the first and second toes of the left foot. Spina bifida occulta of the cervical spine and a smaller left kidney were also observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8425976" 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="#42" class="mim-tip-reference" title="Wellenreuther, U., Adler, A., Haas, N., Happle, R., Czarnetzki, B. M. &lt;strong&gt;A case of Goltz syndrome with ulcerative colitis and obliterative cholangitis.&lt;/strong&gt; Europ. J. Derm. 4: 371-373, 1994."None>Wellenreuther et al. (1994)</a> reported the case of a 40-year-old woman who was thought to have typical Goltz syndrome except that no herniation of fatty tissue was observed. Others had suggested that such herniation is not a necessary feature of the disorder. The patient also had ulcerative colitis and obliterative cholangitis of unknown relationship to the skin disorder.</p><p>In a 14-year-old black girl and her mother with cutaneous manifestations of FDH and syndactyly, <a href="#29" class="mim-tip-reference" title="Lueder, G. T., Steiner, R. D. &lt;strong&gt;Corneal abnormalities in a mother and daughter with focal dermal hypoplasia (Goltz-Gorlin syndrome).&lt;/strong&gt; Am. J. Ophthal. 120: 256-258, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7639315/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7639315&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0002-9394(14)72621-2&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7639315">Lueder and Steiner (1995)</a> found several discrete vascularized peripheral subepithelial corneal opacifications bilaterally with no other ocular abnormalities. They interpreted these corneal lesions as representing an unusual manifestation of FDH. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7639315" 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="#24" class="mim-tip-reference" title="Irvine, A. D., Stewart, F. J., Bingham, E. A., Nevin, N. C., Boston, V. E. &lt;strong&gt;Focal dermal hypoplasia (Goltz syndrome) associated with intestinal malrotation and mediastinal dextroposition.&lt;/strong&gt; Am. J. Med. Genet. 62: 213-215, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8882775/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8882775&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1096-8628(19960329)62:3&lt;213::AID-AJMG2&gt;3.0.CO;2-U&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8882775">Irvine et al. (1996)</a> reported a child with typical cutaneous, ocular, and skeletal manifestations of FDH, who had also preauricular sinuses, omphalocele, duodenal atresia, mediastinal dextraposition, patent ductus arteriosus (see <a href="/entry/607411">607411</a>), esophageal reflux, and hydronephrosis. The X-inactivation pattern was markedly skewed in the proband but random in her mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8882775" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Bellosta, M., Trespiolli, D., Ghiselli, E., Capra, E., Scappaticci, S. &lt;strong&gt;Focal dermal hypoplasia: report of a family with 7 affected women in 3 generations.&lt;/strong&gt; Europ. J. Derm. 6: 499-500, 1996."None>Bellosta et al. (1996)</a> reported a family with affected females in 3 generations. The grandmother, 72 years old, had typical manifestations of FDH, including multiple telangiectases of the legs, linear hyperpigmented macules, skin atrophy with focal herniations of subcutaneous tissue, dystrophic nails, erythematous lesions of the right leg and arm, and a large papilloma of the tongue. X-ray examinations showed osteopathia striata, scoliosis, and some esophageal papillomas. Karyotype analysis revealed chromosomal abnormalities in 5% of the metaphases examined. The pedigree is consistent with X-linked dominant transmission with lethality in the male.</p><p><a href="#17" class="mim-tip-reference" title="Gorlin, R. J. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Minneapolis, Minn. 10/19/1998."None>Gorlin (1998)</a> pointed to the occurrence of giant cell tumors of bone in this disorder.</p><p>In a woman with FDH, <a href="#38" class="mim-tip-reference" title="Traupe, H. &lt;strong&gt;Functional X-chromosomal mosaicism of the skin: Rudolf Happle and the lines of Alfred Blaschko.&lt;/strong&gt; Am. J. Med. Genet. 85: 324-329, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10398252/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10398252&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19990806)85:4&lt;324::aid-ajmg2&gt;3.0.co;2-o&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10398252">Traupe (1999)</a> illustrated lines of Blaschko, suggesting the visual consequences of lyonization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10398252" 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="#32" class="mim-tip-reference" title="Patel, J. S., Maher, E. R., Charles, A. K. &lt;strong&gt;Focal dermal hypoplasia (Goltz syndrome) presenting as a severe fetal malformation syndrome.&lt;/strong&gt; Clin. Dysmorph. 6: 267-272, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9220199/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9220199&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00019605-199707000-00012&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9220199">Patel et al. (1997)</a> reported an unusually severe presentation of FDH in a fetus with typical defects of the hands and feet, anophthalmia, total anomalous pulmonary venous return, and diaphragmatic hernia, but with minimal skin defects. <a href="#20" class="mim-tip-reference" title="Han, X. Y., Wu, S. S., Conway, D. H., Pawel, B. R., Punnett, H. H., Martin, R. A., de Chadarevian, J.-P. &lt;strong&gt;Truncus arteriosus and other lethal internal anomalies in Goltz syndrome.&lt;/strong&gt; Am. J. Med. Genet. 90: 45-48, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10602117/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10602117&lt;/a&gt;]" pmid="10602117">Han et al. (2000)</a> described an infant girl of 36 weeks' gestational age who had cardiovascular and other lethal internal anomalies in addition to characteristic external anomalies of FDH. The internal anomalies included truncus arteriosus type II with truncal origin of hypoplastic pulmonary arteries, cardiac ventricular septal defect, severe hypoplasia of the lungs and pulmonary veins, massive diaphragmatic hernia, and absence of the right kidney. The infant showed an oblique facial cleft. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10602117+9220199" 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="Hancock, S., Pryde, P., Fong, C., Brazy, J. E., Stewart, K., Favour, A., Pauli, R. M. &lt;strong&gt;Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution.&lt;/strong&gt; Am. J. Med. Genet. 110: 370-379, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12116212/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12116212&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.10456&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12116212">Hancock et al. (2002)</a> described a girl diagnosed with severe Goltz syndrome at 8 months of age when fatty herniations or lipopapillomata were noted. At birth this child was thought to have the same condition as the child described by <a href="#39" class="mim-tip-reference" title="Van Allen, M. I., Myhre, S. &lt;strong&gt;New multiple congenital anomalies syndrome in a stillborn infant of consanguinous (sic) parents and a prediabetic pregnancy.&lt;/strong&gt; Am. J. Med. Genet. 38: 523-528, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2063890/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2063890&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320380404&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2063890">Van Allen and Myhre (1991)</a>, although the latter had ectopia cordis and died in the neonatal period. The child reported by <a href="#21" class="mim-tip-reference" title="Hancock, S., Pryde, P., Fong, C., Brazy, J. E., Stewart, K., Favour, A., Pauli, R. M. &lt;strong&gt;Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution.&lt;/strong&gt; Am. J. Med. Genet. 110: 370-379, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12116212/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12116212&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.10456&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12116212">Hancock et al. (2002)</a> had intrauterine growth retardation, bilateral split foot-split hand malformations, a broad-based, skin-covered periumbilical abdominal wall herniation, areas of cutis aplasia congenita and bullous vesicles, microphthalmia, and colobomata of the iris, retina, and optic nerve bilaterally. No chromosomal deletion was found in the Xp22 region. <a href="#21" class="mim-tip-reference" title="Hancock, S., Pryde, P., Fong, C., Brazy, J. E., Stewart, K., Favour, A., Pauli, R. M. &lt;strong&gt;Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution.&lt;/strong&gt; Am. J. Med. Genet. 110: 370-379, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12116212/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12116212&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.10456&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12116212">Hancock et al. (2002)</a> suggested that the child described by <a href="#39" class="mim-tip-reference" title="Van Allen, M. I., Myhre, S. &lt;strong&gt;New multiple congenital anomalies syndrome in a stillborn infant of consanguinous (sic) parents and a prediabetic pregnancy.&lt;/strong&gt; Am. J. Med. Genet. 38: 523-528, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2063890/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2063890&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320380404&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2063890">Van Allen and Myhre (1991)</a> also had a severe form of Goltz syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2063890+12116212" 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="Gordjani, N., Herdeg, S., Ross, U. H., Grimme, H., Kleinschmidt, M., Brandis, M. &lt;strong&gt;Focal dermal hypoplasia (Goltz-Gorlin syndrome) associated with obstructive papillomatosis of the larynx and hypopharynx.&lt;/strong&gt; Europ. J. Derm. 9: 618-620, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10586128/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10586128&lt;/a&gt;]" pmid="10586128">Gordjani et al. (1999)</a> described a 14-year-old girl with FDH who had extensive papillomatosis of the hypopharynx and larynx. These masses were resected subtotally by endoscopic laser treatment. Residual papillomas were left in the subglottic space but tracheotomy was avoided. Complete clinical recovery ensued. Histologic examination did not show morphologic signs of human papillomavirus as an etiologic agent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10586128" 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="#33" class="mim-tip-reference" title="Rodini, E. S. O., Machado-Paula, L. A., Vendramini, S., Guion-Almeida, M. L. &lt;strong&gt;Atypical facial clefting in a patient with Goltz syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 140A: 1616 only, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16761285/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16761285&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30141&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16761285">Rodini et al. (2006)</a> reported a newborn girl with a severe form of Goltz syndrome with atypical and extensive facial clefting. Oral anomalies included hypodontia, papillomas of the lip, and right-sided complex facial clefting involving maxilla, oral, nasal, and ocular structures. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16761285" 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="#30" class="mim-tip-reference" title="Maas, S. M., Lombardi, M. P., van Essen, A. J., Wakeling, E. L., Castle, B., Temple, I. K., Kumar, V. K. A., Writzl, K., Hennekam, R. C. M. &lt;strong&gt;Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome.&lt;/strong&gt; J. Med. Genet. 46: 716-720, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19586929/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19586929&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2009.068403&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19586929">Maas et al. (2009)</a> described the clinical and molecular features of 17 patients with Goltz-Gorlin syndrome. Thirteen classically affected females had a mutation in the PORCN gene, including 2 sisters with germline mosaicism. In a male patient who was classically affected except for relatively mild limb anomalies, a mutation was identified in fibroblast samples from affected and unaffected areas, with a lower signal intensity at the mutation site in unaffected fibroblasts, suggestive of somatic mosaicism. No mutations were identified in the 3 remaining female patients, who were mildly affected, with features limited to focal dermal hypoplasia and hyperpigmentation following Blaschko lines. Two mutation-positive women had 1 and 2 female fetuses, respectively, with a phenotype resembling either the limb-body wall complex (<a href="/entry/217100">217100</a>) or the pentalogy of Cantrell (see <a href="/entry/313850">313850</a>). <a href="#30" class="mim-tip-reference" title="Maas, S. M., Lombardi, M. P., van Essen, A. J., Wakeling, E. L., Castle, B., Temple, I. K., Kumar, V. K. A., Writzl, K., Hennekam, R. C. M. &lt;strong&gt;Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome.&lt;/strong&gt; J. Med. Genet. 46: 716-720, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19586929/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19586929&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2009.068403&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19586929">Maas et al. (2009)</a> suggested that some cases carrying the latter diagnoses may in fact be severely affected fetuses with Goltz-Gorlin syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19586929" 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="Gnamey, D. K., Koffi, K. S., Nagalo, K., Guedenon, K. M., Akakpo-Numado, G. K., Balaka, B., Tatagan-Agbi, K., Atakouma, D. Y. &lt;strong&gt;Aplasia cutis congenita associated with Goltz syndrome in a male neonate.&lt;/strong&gt; Genet. Counsel. 21: 41-47, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20420028/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20420028&lt;/a&gt;]" pmid="20420028">Gnamey et al. (2010)</a> reported a male infant with focal dermal hypoplasia who also had an extensive area of aplasia cutis congenita (ACC; <a href="/entry/107600">107600</a>) of the scalp vertex, with cerebral structures visible through the defect. He had cutaneous atrophy with areas of hyperpigmentation on the right leg, hypoplasia of the first toe of the right foot, absence of the fifth toe of the left foot, and bilateral complete tissue syndactyly with fusion of the toes. Radiography revealed hypoplastic mandible, absence of left first and second metatarsals, absence of the right first metatarsal, and the femora and tibiae were dystrophic with flattened diaphyses. The patient died at 23 days due to neurologic complications. <a href="#11" class="mim-tip-reference" title="Gnamey, D. K., Koffi, K. S., Nagalo, K., Guedenon, K. M., Akakpo-Numado, G. K., Balaka, B., Tatagan-Agbi, K., Atakouma, D. Y. &lt;strong&gt;Aplasia cutis congenita associated with Goltz syndrome in a male neonate.&lt;/strong&gt; Genet. Counsel. 21: 41-47, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20420028/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20420028&lt;/a&gt;]" pmid="20420028">Gnamey et al. (2010)</a> reviewed 18 previously reported cases of FDH and stated that this was the first in which there was associated aplasia cutis congenita. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20420028" 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="#35" class="mim-tip-reference" title="Smigiel, R., Jakubiak, A., Lombardi, M. P., Jaworski, W., Slezak, R., Patkowski, D., Hennekam, R. C. &lt;strong&gt;Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell: case report and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 155A: 1102-1105, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21484999/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21484999&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33895&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21484999">Smigiel et al. (2011)</a> reported an infant girl with a nonsense mutation in the PORCN gene, who had findings fitting both Goltz-Gorlin syndrome, including sparse hair, clinical anophthalmia, clefting, bifid nose, irregular vermilion of both lips, asymmetric limb malformations, caudal appendage, linear aplastic skin defects, and unilateral hearing loss, and the pentalogy of Cantrell, including absent lower sternum, anterior diaphragmatic hernia, ectopia cordis, and omphalocele. <a href="#35" class="mim-tip-reference" title="Smigiel, R., Jakubiak, A., Lombardi, M. P., Jaworski, W., Slezak, R., Patkowski, D., Hennekam, R. C. &lt;strong&gt;Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell: case report and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 155A: 1102-1105, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21484999/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21484999&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33895&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21484999">Smigiel et al. (2011)</a> stated that this was the third patient reported to have this combination of features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21484999" 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>
</span>
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<div>
<a id="inheritance" class="mim-anchor"></a>
<h4 href="#mimInheritanceFold" id="mimInheritanceToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimInheritanceToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
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<div id="mimInheritanceFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>Ninety percent of individuals with FDH are female, with heterozygous or mosaic mutations in the PORCN gene. Males (mosaic mutations) account for 10% of affected individuals; heterozygous nonmosaic mutations are thought to be lethal in males. Approximately 5% of affected females inherit the gene defect from a parent; 95% of affected females have a new mutation (summary by <a href="#5" class="mim-tip-reference" title="Deidrick, K. K. M., Early, M., Constance, J., Stein, M., Fete, T. J. &lt;strong&gt;Cognitive and psychological functioning in focal dermal hypoplasia.&lt;/strong&gt; Am. J. Med. Genet. C Semin. Med. Genet. 172C: 34-40, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26818018/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;26818018&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.c.31471&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="26818018">Deidrick et al., 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26818018" 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="Goltz, R. W., Peterson, W. C., Jr., Gorlin, R. J., Ravits, H. G. &lt;strong&gt;Focal dermal hypoplasia.&lt;/strong&gt; Arch. Derm. 86: 708-717, 1962.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13948891/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13948891&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archderm.1962.01590120006002&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="13948891">Goltz et al. (1962)</a> noted that all 5 of their cases were female, that the disorder occurred only in female antecedents and other relatives, and that miscarriages are frequent in these families. They had affected females in 4 successive generations in 1 family and in 2 generations of another. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13948891" 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="#37" class="mim-tip-reference" title="Toro-Sola, M. A., Kistenmacher, M. L., Punnett, H. H., DiGeorge, A. M. &lt;strong&gt;Focal dermal hypoplasia syndrome in a male.&lt;/strong&gt; Clin. Genet. 7: 325-327, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1126054/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1126054&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1975.tb00336.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1126054">Toro-Sola et al. (1975)</a> reported what they purported to be the eighth case in a male. From a review of published cases, they concluded that multifactorial inheritance is likely. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1126054" 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="#43" class="mim-tip-reference" title="Wettke-Schafer, R., Kantner, G. &lt;strong&gt;X-linked dominant inherited diseases with lethality in hemizygous males.&lt;/strong&gt; Hum. Genet. 64: 1-23, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6873941/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6873941&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00289472&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6873941">Wettke-Schafer and Kantner (1983)</a> stated that the inheritance of FDH as an X-linked dominant lethal in hemizygous males was not confirmed. At least 2 instances of father-to-daughter transmission had been reported (<a href="#27" class="mim-tip-reference" title="Larregue, M., Duterque, M. &lt;strong&gt;Striated osteopathy in focal dermal hypoplasia.&lt;/strong&gt; Arch. Derm. 111: 1365 only, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1190805/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1190805&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archderm.1975.01630220129019&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1190805">Larregue and Duterque, 1975</a>; <a href="#4" class="mim-tip-reference" title="Burgdorf, W. H., Dick, G. F., Soderberg, H. D., Goltz, R. W. &lt;strong&gt;Focal dermal hypoplasia in a father and daughter.&lt;/strong&gt; J. Am. Acad. Derm. 4: 273-277, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7217396/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7217396&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0190-9622(81)70027-6&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7217396">Burgdorf et al., 1981</a>). In a review on FDH, <a href="#36" class="mim-tip-reference" title="Temple, I. K., MacDowall, P., Baraitser, M., Atherton, D. J. &lt;strong&gt;Focal dermal hypoplasia (Goltz syndrome).&lt;/strong&gt; J. Med. Genet. 27: 180-187, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2325092/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2325092&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.27.3.180&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2325092">Temple et al. (1990)</a> suggested that the disorder in males may be the result of half-chromatid mutations. If the mutation occurs early enough in the developing embryo, the gonads would also be affected, and this may explain reports of father-to-daughter transmission. In keeping with this hypothesis, reported affected males have always been the first affected person in their families. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7217396+6873941+1190805+2325092" 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="#18" class="mim-tip-reference" title="Gorski, J. L. &lt;strong&gt;Father-to-daughter transmission of focal dermal hypoplasia associated with nonrandom X-inactivation: support for X-linked inheritance and paternal X chromosome mosaicism.&lt;/strong&gt; Am. J. Med. Genet. 40: 332-337, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1951439/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1951439&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320400317&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1951439">Gorski (1991)</a> observed FDH in father and daughter. Study of somatic cell hybrids constructed by fusing HPRT-deficient rodent fibroblasts with either patient dermal fibroblasts or peripheral white blood cells showed that while hybrids constructed from skin fibroblasts contained an active X chromosome inherited from either of the patient's parents, hybrids constructed from white cells showed a skewed pattern of X inactivation; 11 of 11 hybrids contained an active maternal X chromosome (p = 0.001). These findings were interpreted as indicating that FDH was associated with nonrandom X inactivation consistent with X-linked inheritance and that the patient's father was mosaic for a mutant FDH allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1951439" 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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<div>
<a id="cytogenetics" class="mim-anchor"></a>
<h4 href="#mimCytogeneticsFold" id="mimCytogeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimCytogeneticsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Cytogenetics</strong>
</span>
</h4>
</div>
<div id="mimCytogeneticsFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#9" class="mim-tip-reference" title="Friedman, P. A., Rao, K. W., Teplin, S. W., Aylsworth, A. S. &lt;strong&gt;Provisional deletion mapping of the focal dermal hypoplasia (FDH) gene to Xp22.31. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 43: A50 only, 1988."None>Friedman et al. (1988)</a> described a child with FDH who was found to have a terminal deletion of the short arm of the X chromosome with the breakpoint in Xp22.31. They suggested that this is the site of the gene. <a href="#45" class="mim-tip-reference" title="Zuffardi, O., Caiulo, A., Maraschio, P., Tupler, R., Bianchi, E., Amisano, P., Beluffi, G., Moratti, R., Liguri, G. &lt;strong&gt;Regional assignment of the loci for adenylate kinase to 9q32 and for alpha(1)-acid glycoprotein to 9q31-q32. A locus for Goltz syndrome in region 9q32-qter?&lt;/strong&gt; Hum. Genet. 82: 17-19, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2541064/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2541064&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00288264&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2541064">Zuffardi et al. (1989)</a> observed a child with some of the manifestations of FDH in association with a deletion in 9q32-qter. They questioned whether FDH may in fact be autosomal, not X-linked, or whether there may be an autosomal form. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2541064" 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="#31" class="mim-tip-reference" title="Naritomi, K., Izumikawa, Y., Nagataki, S., Fukushima, Y., Wakui, K., Niikawa, N., Hirayama, K. &lt;strong&gt;Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome?&lt;/strong&gt; Am. J. Med. Genet. 43: 839-843, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1642272/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1642272&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430517&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1642272">Naritomi et al. (1992)</a> described 2 unrelated girls with deletion in the terminal portion of the short arm of the X chromosome. They had features interpreted as combining those of the Goltz and Aicardi syndromes. From this and the clinical and cytogenetic findings in similar cases, <a href="#31" class="mim-tip-reference" title="Naritomi, K., Izumikawa, Y., Nagataki, S., Fukushima, Y., Wakui, K., Niikawa, N., Hirayama, K. &lt;strong&gt;Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome?&lt;/strong&gt; Am. J. Med. Genet. 43: 839-843, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1642272/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1642272&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430517&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1642272">Naritomi et al. (1992)</a> concluded that these may be contiguous gene syndromes in the region Xp22.31 (or, alternatively, caused by mutations in separate genes that are closely situated to each other). <a href="#17" class="mim-tip-reference" title="Gorlin, R. J. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Minneapolis, Minn. 10/19/1998."None>Gorlin (1998)</a> stated that the condition described by <a href="#31" class="mim-tip-reference" title="Naritomi, K., Izumikawa, Y., Nagataki, S., Fukushima, Y., Wakui, K., Niikawa, N., Hirayama, K. &lt;strong&gt;Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome?&lt;/strong&gt; Am. J. Med. Genet. 43: 839-843, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1642272/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1642272&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430517&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1642272">Naritomi et al. (1992)</a> was 'clearly MIDAS syndrome' (MLS; <a href="/entry/309801">309801</a>), which has been mapped to Xp22.31. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1642272" 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="#40" class="mim-tip-reference" title="Wang, X., Reid Sutton, V., Peraza-Llanes, J. O., Yu, Z., Rosetta, R., Kou, Y.-C., Eble, T. N., Patel, A., Thaller, C., Fang, P., Van den Veyver, I. B. &lt;strong&gt;Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.&lt;/strong&gt; Nature Genet. 39: 836-838, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17546030/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17546030&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng2057&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17546030">Wang et al. (2007)</a> cohybridized genomic DNA of girls with FDH with reference female DNA onto a genomewide oligonucleotide comparative genomic hybridization (CGH) array and identified a 219-kb region of copy number loss in 11p11.23 in DNA from 2 affected individuals. This region, which encompassed 5 genes, including PORCN, was not deleted in her unaffected parents. Another affected girl was found to have the nearly identical mutation. In both, there was 100% inactivation of the paternally inherited X chromosomes in peripheral blood leukocyte (PBL) DNA. The finding of 2 such nearly identical heterozygous genomic deletions may indicate that this is a common mutational mechanism for FDH, possibly mediated by low-copy repeat sequences. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17546030" 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="Grzeschik, K.-H., Bornholdt, D., Oeffner, F., Konig, A., Boente, M. del C., Fritz, B., Hertl, M., Grasshoff, U., Hofling, K., Oji, V., Paradisi, M., Schuchardt, C., Szalai, Z., Tadini, G., Traupe, H., Happle, R. &lt;strong&gt;Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.&lt;/strong&gt; Nature Genet. 39: 833-835, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17546031/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17546031&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng2052&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17546031">Grzeschik et al. (2007)</a> used CGH to study 6 affected members of 1 family segregating FDH and 10 unrelated affected individuals. In 2 of those affected, they identified deletion in Xp11.23 that overlapped by approximately 80 kb and included 4 genes, including PORCN. <a href="#19" class="mim-tip-reference" title="Grzeschik, K.-H., Bornholdt, D., Oeffner, F., Konig, A., Boente, M. del C., Fritz, B., Hertl, M., Grasshoff, U., Hofling, K., Oji, V., Paradisi, M., Schuchardt, C., Szalai, Z., Tadini, G., Traupe, H., Happle, R. &lt;strong&gt;Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.&lt;/strong&gt; Nature Genet. 39: 833-835, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17546031/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17546031&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng2052&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17546031">Grzeschik et al. (2007)</a> concluded that FDH can be a component of a contiguous gene syndrome. They also noted skewed X-chromosome activation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17546031" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p><a href="#40" class="mim-tip-reference" title="Wang, X., Reid Sutton, V., Peraza-Llanes, J. O., Yu, Z., Rosetta, R., Kou, Y.-C., Eble, T. N., Patel, A., Thaller, C., Fang, P., Van den Veyver, I. B. &lt;strong&gt;Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.&lt;/strong&gt; Nature Genet. 39: 836-838, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17546030/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17546030&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng2057&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17546030">Wang et al. (2007)</a> amplified and sequenced all coding exons of the PORCN gene, using genomic DNA of 15 girls with confirmed or suspected FDH and identified heterozygous mutations in 10 of them (e.g., <a href="/entry/300651#0001">300651.0001</a>-<a href="/entry/300651#0002">300651.0002</a>). None of the mutations were detected in available parental DNA samples, except for a duplication mutation in exon 12 in 1 individual (<a href="/entry/300651#0001">300651.0001</a>). The sequencing profiles of her father's DNA showed very low signals for the mutant sequence superimposed on the wildtype sequence, suggesting somatic mosaicism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17546030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 8 individuals with FDH, <a href="#19" class="mim-tip-reference" title="Grzeschik, K.-H., Bornholdt, D., Oeffner, F., Konig, A., Boente, M. del C., Fritz, B., Hertl, M., Grasshoff, U., Hofling, K., Oji, V., Paradisi, M., Schuchardt, C., Szalai, Z., Tadini, G., Traupe, H., Happle, R. &lt;strong&gt;Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.&lt;/strong&gt; Nature Genet. 39: 833-835, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17546031/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17546031&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng2052&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17546031">Grzeschik et al. (2007)</a> identified several heterozygous nonsense mutations and 1 splice site mutation (e.g., <a href="/entry/300651#0003">300651.0003</a>-<a href="/entry/300651#0004">300651.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17546031" 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="#28" class="mim-tip-reference" title="Leoyklang, P., Suphapeetiporn, K., Wananukul, S., Shotelersuk, V. &lt;strong&gt;Three novel mutations in the PORCN gene underlying focal dermal hypoplasia.&lt;/strong&gt; Clin. Genet. 73: 373-379, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18325042/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18325042&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2008.00975.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18325042">Leoyklang et al. (2008)</a> reported 3 unrelated Thai girls with sporadic FDH in whom they identified mutations in the PORCN gene (see, e.g., <a href="/entry/300651#0005">300651.0005</a>), confirming that PORCN is the gene responsible for FDH across different populations. One of the girls displayed unilateral athelia, which the authors stated was previously unreported in this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18325042" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 24 unrelated FDH patients from different ethnic backgrounds, <a href="#2" class="mim-tip-reference" title="Bornholdt, D., Oeffner, F., Konig, A., Happle, R., Alanay, Y., Ascherman, J., Benke, P. J., Boente, M. C., van der Burgt, I., Chassaing, N., Ellis, I., Francisco, C. R. I., and 22 others. &lt;strong&gt;PORCN mutations in focal dermal hypoplasia: coping with lethality.&lt;/strong&gt; Hum. Mutat. 30: E618-E628, 2009. Note: Electronic Article. Erratum: Hum. Mutat. 30: 1472-1473, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19309688/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19309688&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20992&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19309688">Bornholdt et al. (2009)</a> identified 23 different PORCN mutations, including 3 microdeletions encompassing PORCN as well as neighboring genes, 12 nonsense mutations resulting in loss of function, 1 splice site mutation, and 8 missense mutations at highly conserved amino acids (see, e.g., <a href="/entry/300651#0005">300651.0005</a>). FDH patients overcome the consequences of potentially lethal X-chromosomal mutations by extreme skewing of X-chromosome inactivation in females, enabling transmission of the trait in families, or by postzygotic mosaicism both in male and female individuals. <a href="#2" class="mim-tip-reference" title="Bornholdt, D., Oeffner, F., Konig, A., Happle, R., Alanay, Y., Ascherman, J., Benke, P. J., Boente, M. C., van der Burgt, I., Chassaing, N., Ellis, I., Francisco, C. R. I., and 22 others. &lt;strong&gt;PORCN mutations in focal dermal hypoplasia: coping with lethality.&lt;/strong&gt; Hum. Mutat. 30: E618-E628, 2009. Note: Electronic Article. Erratum: Hum. Mutat. 30: 1472-1473, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19309688/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19309688&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20992&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19309688">Bornholdt et al. (2009)</a> noted that molecular characterization of PORCN mutations in cases diagnosed as Goltz syndrome is particularly relevant for genetic counseling of patients and their families, since no functional diagnostic test is available and carriers of the mutation might otherwise be overlooked due to considerable phenotypic variability associated with the mosaic status. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19309688" 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="Froyen, G., Govaerts, K., Van Esch, H., Verbeeck, J., Tuomi, M.-L., Heikkila, H., Torniainen, S., Devriendt, K., Fryns, J.-P., Marynen, P., Jarvela, I., Ala-Mello, S. &lt;strong&gt;Novel PORCN mutations in focal dermal hypoplasia.&lt;/strong&gt; Clin. Genet. 76: 535-543, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19863546/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19863546&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2009.01248.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19863546">Froyen et al. (2009)</a> analyzed the PORCN gene in 6 Finnish and 2 Belgian patients with FDH and identified a 150-kb deletion, encompassing PORCN and at least 5 other genes in a 13-year-old Finnish girl. In addition, they identified 2 different missense mutations, 1 in a 6-year-old Belgian girl and the other in a 16-year-old Finnish girl; the latter mutation (R365Q; <a href="/entry/300651#0005">300651.0005</a>) had previously been identified in a Thai girl with a severe form of FDH by <a href="#28" class="mim-tip-reference" title="Leoyklang, P., Suphapeetiporn, K., Wananukul, S., Shotelersuk, V. &lt;strong&gt;Three novel mutations in the PORCN gene underlying focal dermal hypoplasia.&lt;/strong&gt; Clin. Genet. 73: 373-379, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18325042/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18325042&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2008.00975.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18325042">Leoyklang et al. (2008)</a> and in a girl with a mild FDH phenotype by <a href="#2" class="mim-tip-reference" title="Bornholdt, D., Oeffner, F., Konig, A., Happle, R., Alanay, Y., Ascherman, J., Benke, P. J., Boente, M. C., van der Burgt, I., Chassaing, N., Ellis, I., Francisco, C. R. I., and 22 others. &lt;strong&gt;PORCN mutations in focal dermal hypoplasia: coping with lethality.&lt;/strong&gt; Hum. Mutat. 30: E618-E628, 2009. Note: Electronic Article. Erratum: Hum. Mutat. 30: 1472-1473, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19309688/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19309688&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20992&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19309688">Bornholdt et al. (2009)</a>. <a href="#10" class="mim-tip-reference" title="Froyen, G., Govaerts, K., Van Esch, H., Verbeeck, J., Tuomi, M.-L., Heikkila, H., Torniainen, S., Devriendt, K., Fryns, J.-P., Marynen, P., Jarvela, I., Ala-Mello, S. &lt;strong&gt;Novel PORCN mutations in focal dermal hypoplasia.&lt;/strong&gt; Clin. Genet. 76: 535-543, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19863546/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19863546&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2009.01248.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19863546">Froyen et al. (2009)</a> stated that these were the first causal PORCN mutations identified in the Finnish and Belgian FDH populations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19863546+19309688+18325042" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="seeAlso" class="mim-anchor"></a>
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>See Also:</strong>
</span>
</h4>
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<a href="#Feinberg1976" class="mim-tip-reference" title="Feinberg, A., Menter, M. A. &lt;strong&gt;Focal dermal hypoplasia (Goltz syndrome) in a male: a case report.&lt;/strong&gt; S. Afr. Med. J. 50: 554-555, 1976.">Feinberg and Menter (1976)</a>; <a href="#Goltz1970" class="mim-tip-reference" title="Goltz, R. W., Henderson, R. R., Hitch, J. M., Ott, J. E. &lt;strong&gt;Focal dermal hypoplasia syndrome: a review of the literature and report of two cases.&lt;/strong&gt; Arch. Derm. 101: 1-11, 1970.">Goltz et al. (1970)</a>; <a href="#Gorlin1963" class="mim-tip-reference" title="Gorlin, R. J., Meskin, L. H., Peterson, W. C., Jr., Goltz, R. W. &lt;strong&gt;Focal dermal hypoplasia syndrome.&lt;/strong&gt; Acta Derm. Venerol. 43: 421-440, 1963.">Gorlin et al.
(1963)</a>; <a href="#Holden1967" class="mim-tip-reference" title="Holden, J. D., Akers, W. A. &lt;strong&gt;Goltz&#x27;s syndrome: focal dermal hypoplasia.&lt;/strong&gt; Am. J. Dis. Child. 114: 292-300, 1967.">Holden and Akers (1967)</a>; <a href="#Kunze1979" class="mim-tip-reference" title="Kunze, J., Heyne, K., Wiedemann, H.-R. &lt;strong&gt;Diaphragmatic hernia in a female newborn with focal dermal hypoplasia and marked asymmetric malformations (Goltz-Gorlin syndrome).&lt;/strong&gt; Europ. J. Pediat. 131: 213-218, 1979.">Kunze et al. (1979)</a>; <a href="#Ruiz-Maldonado1974" class="mim-tip-reference" title="Ruiz-Maldonado, R., Carnevale, A., Tamayo, L., De Montiel, E. M. &lt;strong&gt;Focal dermal hypoplasia.&lt;/strong&gt; Clin. Genet. 6: 36-45, 1974.">Ruiz-Maldonado
et al. (1974)</a>
</span>
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</div>
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<div>
<a id="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
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</h4>
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<ol>
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Bellosta, M., Trespiolli, D., Ghiselli, E., Capra, E., Scappaticci, S.
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<p class="mim-text-font">
Bornholdt, D., Oeffner, F., Konig, A., Happle, R., Alanay, Y., Ascherman, J., Benke, P. J., Boente, M. C., van der Burgt, I., Chassaing, N., Ellis, I., Francisco, C. R. I., and 22 others.
<strong>PORCN mutations in focal dermal hypoplasia: coping with lethality.</strong>
Hum. Mutat. 30: E618-E628, 2009. Note: Electronic Article. Erratum: Hum. Mutat. 30: 1472-1473, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19309688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19309688</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19309688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.20992" target="_blank">Full Text</a>]
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Buchner, S. A., Itin, P.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1497362/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1497362</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1497362" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archderm.1992.01680180072008" target="_blank">Full Text</a>]
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<a id="Burgdorf1981" class="mim-anchor"></a>
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<p class="mim-text-font">
Burgdorf, W. H., Dick, G. F., Soderberg, H. D., Goltz, R. W.
<strong>Focal dermal hypoplasia in a father and daughter.</strong>
J. Am. Acad. Derm. 4: 273-277, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7217396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7217396</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7217396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0190-9622(81)70027-6" target="_blank">Full Text</a>]
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<a id="Deidrick2016" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Deidrick, K. K. M., Early, M., Constance, J., Stein, M., Fete, T. J.
<strong>Cognitive and psychological functioning in focal dermal hypoplasia.</strong>
Am. J. Med. Genet. C Semin. Med. Genet. 172C: 34-40, 2016.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26818018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26818018</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26818018" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.c.31471" target="_blank">Full Text</a>]
</p>
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<a id="6" class="mim-anchor"></a>
<a id="Feinberg1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Feinberg, A., Menter, M. A.
<strong>Focal dermal hypoplasia (Goltz syndrome) in a male: a case report.</strong>
S. Afr. Med. J. 50: 554-555, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1273724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1273724</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1273724" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
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<a id="7" class="mim-anchor"></a>
<a id="Ferguson-Smith1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ferguson-Smith, M. A.
<strong>Personal Communication.</strong>
Glasgow, Scotland 7/9/1981.
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<a id="Fete2016" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fete, T. J., Fete, M.
<strong>International Research Symposium on Goltz syndrome.</strong>
Am. J. Med. Genet. Part C Semin. Med. Genet. 172C: 3-6, 2016.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26834080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26834080</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26834080" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.c.31475" target="_blank">Full Text</a>]
</p>
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<a id="Friedman1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Friedman, P. A., Rao, K. W., Teplin, S. W., Aylsworth, A. S.
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<p class="mim-text-font">
Froyen, G., Govaerts, K., Van Esch, H., Verbeeck, J., Tuomi, M.-L., Heikkila, H., Torniainen, S., Devriendt, K., Fryns, J.-P., Marynen, P., Jarvela, I., Ala-Mello, S.
<strong>Novel PORCN mutations in focal dermal hypoplasia.</strong>
Clin. Genet. 76: 535-543, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19863546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19863546</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19863546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.2009.01248.x" target="_blank">Full Text</a>]
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<a id="Gnamey2010" class="mim-anchor"></a>
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<p class="mim-text-font">
Gnamey, D. K., Koffi, K. S., Nagalo, K., Guedenon, K. M., Akakpo-Numado, G. K., Balaka, B., Tatagan-Agbi, K., Atakouma, D. Y.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20420028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20420028</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20420028" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
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<li>
<a id="12" class="mim-anchor"></a>
<a id="Goltz1970" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Goltz, R. W., Henderson, R. R., Hitch, J. M., Ott, J. E.
<strong>Focal dermal hypoplasia syndrome: a review of the literature and report of two cases.</strong>
Arch. Derm. 101: 1-11, 1970.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5416790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5416790</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5416790" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archderm.101.1.1" target="_blank">Full Text</a>]
</p>
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<a id="13" class="mim-anchor"></a>
<a id="Goltz1962" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Goltz, R. W., Peterson, W. C., Jr., Gorlin, R. J., Ravits, H. G.
<strong>Focal dermal hypoplasia.</strong>
Arch. Derm. 86: 708-717, 1962.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13948891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13948891</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13948891" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archderm.1962.01590120006002" target="_blank">Full Text</a>]
</p>
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<a id="Goltz1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Goltz, R. W.
<strong>Focal dermal hypoplasia syndrome: an update. (Editorial)</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1497368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1497368</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1497368" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Gordjani1999" class="mim-anchor"></a>
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Gordjani, N., Herdeg, S., Ross, U. H., Grimme, H., Kleinschmidt, M., Brandis, M.
<strong>Focal dermal hypoplasia (Goltz-Gorlin syndrome) associated with obstructive papillomatosis of the larynx and hypopharynx.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10586128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10586128</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10586128" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="16" class="mim-anchor"></a>
<a id="Gorlin1963" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gorlin, R. J., Meskin, L. H., Peterson, W. C., Jr., Goltz, R. W.
<strong>Focal dermal hypoplasia syndrome.</strong>
Acta Derm. Venerol. 43: 421-440, 1963.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14051108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14051108</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14051108" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<p class="mim-text-font">
Gorlin, R. J.
<strong>Personal Communication.</strong>
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<a id="Gorski1991" class="mim-anchor"></a>
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<p class="mim-text-font">
Gorski, J. L.
<strong>Father-to-daughter transmission of focal dermal hypoplasia associated with nonrandom X-inactivation: support for X-linked inheritance and paternal X chromosome mosaicism.</strong>
Am. J. Med. Genet. 40: 332-337, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1951439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1951439</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1951439" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320400317" target="_blank">Full Text</a>]
</p>
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<a id="Grzeschik2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Grzeschik, K.-H., Bornholdt, D., Oeffner, F., Konig, A., Boente, M. del C., Fritz, B., Hertl, M., Grasshoff, U., Hofling, K., Oji, V., Paradisi, M., Schuchardt, C., Szalai, Z., Tadini, G., Traupe, H., Happle, R.
<strong>Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.</strong>
Nature Genet. 39: 833-835, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17546031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17546031</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17546031" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng2052" target="_blank">Full Text</a>]
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<a id="Han2000" class="mim-anchor"></a>
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Han, X. Y., Wu, S. S., Conway, D. H., Pawel, B. R., Punnett, H. H., Martin, R. A., de Chadarevian, J.-P.
<strong>Truncus arteriosus and other lethal internal anomalies in Goltz syndrome.</strong>
Am. J. Med. Genet. 90: 45-48, 2000.
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</p>
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<a id="Hancock2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hancock, S., Pryde, P., Fong, C., Brazy, J. E., Stewart, K., Favour, A., Pauli, R. M.
<strong>Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution.</strong>
Am. J. Med. Genet. 110: 370-379, 2002.
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[<a href="https://doi.org/10.1002/ajmg.10456" target="_blank">Full Text</a>]
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<a id="Happle1977" class="mim-anchor"></a>
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Happle, R., Lenz, W.
<strong>Striation of bones in focal dermal hypoplasia: manifestation of functional mosaicism?</strong>
Brit. J. Derm. 96: 133-138, 1977.
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[<a href="https://doi.org/10.1111/j.1365-2133.1977.tb12534.x" target="_blank">Full Text</a>]
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<div class="">
<p class="mim-text-font">
Holden, J. D., Akers, W. A.
<strong>Goltz's syndrome: focal dermal hypoplasia.</strong>
Am. J. Dis. Child. 114: 292-300, 1967.
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[<a href="https://doi.org/10.1001/archpedi.1967.02090240106009" target="_blank">Full Text</a>]
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<p class="mim-text-font">
Irvine, A. D., Stewart, F. J., Bingham, E. A., Nevin, N. C., Boston, V. E.
<strong>Focal dermal hypoplasia (Goltz syndrome) associated with intestinal malrotation and mediastinal dextroposition.</strong>
Am. J. Med. Genet. 62: 213-215, 1996.
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[<a href="https://doi.org/10.1002/(SICI)1096-8628(19960329)62:3&lt;213::AID-AJMG2&gt;3.0.CO;2-U" target="_blank">Full Text</a>]
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<a id="Kunze1979" class="mim-anchor"></a>
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Kunze, J., Heyne, K., Wiedemann, H.-R.
<strong>Diaphragmatic hernia in a female newborn with focal dermal hypoplasia and marked asymmetric malformations (Goltz-Gorlin syndrome).</strong>
Europ. J. Pediat. 131: 213-218, 1979.
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[<a href="https://doi.org/10.1007/BF00538945" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0190-9622(93)70015-l" target="_blank">Full Text</a>]
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<strong>Striated osteopathy in focal dermal hypoplasia.</strong>
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[<a href="https://doi.org/10.1001/archderm.1975.01630220129019" target="_blank">Full Text</a>]
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<strong>Three novel mutations in the PORCN gene underlying focal dermal hypoplasia.</strong>
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[<a href="https://doi.org/10.1111/j.1399-0004.2008.00975.x" target="_blank">Full Text</a>]
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<strong>Corneal abnormalities in a mother and daughter with focal dermal hypoplasia (Goltz-Gorlin syndrome).</strong>
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[<a href="https://doi.org/10.1016/s0002-9394(14)72621-2" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.2009.068403" target="_blank">Full Text</a>]
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<strong>Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome?</strong>
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[<a href="https://doi.org/10.1002/ajmg.1320430517" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/00019605-199707000-00012" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30141" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1974.tb00628.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.33895" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.27.3.180" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1975.tb00336.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19990806)85:4&lt;324::aid-ajmg2&gt;3.0.co;2-o" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320380404" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng2057" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1755-3768.1970.tb03754.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00289472" target="_blank">Full Text</a>]
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Wodniansky, P.
<strong>Ueber die Formen der congenitalen Poikilodermie.</strong>
Arch. Klin. Exp. Derm. 205: 331-342, 1957.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13522016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13522016</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13522016" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Zuffardi1989" class="mim-anchor"></a>
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Zuffardi, O., Caiulo, A., Maraschio, P., Tupler, R., Bianchi, E., Amisano, P., Beluffi, G., Moratti, R., Liguri, G.
<strong>Regional assignment of the loci for adenylate kinase to 9q32 and for alpha(1)-acid glycoprotein to 9q31-q32. A locus for Goltz syndrome in region 9q32-qter?</strong>
Hum. Genet. 82: 17-19, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2541064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2541064</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2541064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00288264" target="_blank">Full Text</a>]
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Carol A. Bocchini - updated : 08/23/2016
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Marla J. F. O'Neill - updated : 8/22/2011<br>Marla J. F. O'Neill - updated : 2/3/2011<br>Marla J. F. O'Neill - updated : 6/9/2010<br>Marla J. F. O'Neill - updated : 1/29/2010<br>Marla J. F. O'Neill - updated : 11/21/2008<br>Victor A. McKusick - updated : 8/29/2007<br>Cassandra L. Kniffin - updated : 8/18/2006<br>Deborah L. Stone - updated : 10/25/2002<br>Victor A. McKusick - updated : 4/11/2000<br>Victor A. McKusick - updated : 12/29/1999<br>Victor A. McKusick - updated : 9/14/1999<br>Victor A. McKusick - updated : 8/31/1999<br>Victor A. McKusick - updated : 5/27/1999<br>Victor A. McKusick - updated : 10/27/1998<br>Victor A. McKusick - updated : 7/28/1998<br>Wilson H. Y. Lo - updated : 2/18/1997<br>Iosif W. Lurie - updated : 6/29/1996
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Creation Date:
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Victor A. McKusick : 6/4/1986
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alopez : 06/17/2022
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carol : 05/28/2020<br>alopez : 07/17/2017<br>alopez : 03/16/2017<br>carol : 08/23/2016<br>alopez : 02/29/2016<br>carol : 6/23/2015<br>carol : 3/21/2013<br>terry : 10/11/2011<br>wwang : 8/23/2011<br>terry : 8/22/2011<br>wwang : 2/25/2011<br>terry : 2/3/2011<br>wwang : 6/10/2010<br>terry : 6/9/2010<br>wwang : 2/1/2010<br>terry : 1/29/2010<br>wwang : 11/25/2008<br>terry : 11/21/2008<br>carol : 8/31/2007<br>terry : 8/29/2007<br>wwang : 8/25/2006<br>ckniffin : 8/18/2006<br>mgross : 3/17/2004<br>cwells : 11/10/2003<br>mgross : 12/10/2002<br>tkritzer : 11/27/2002<br>carol : 10/25/2002<br>carol : 10/25/2002<br>carol : 10/30/2000<br>mcapotos : 5/2/2000<br>terry : 4/11/2000<br>mcapotos : 4/11/2000<br>mcapotos : 1/10/2000<br>mcapotos : 1/6/2000<br>mcapotos : 1/6/2000<br>terry : 12/29/1999<br>jlewis : 9/14/1999<br>terry : 8/31/1999<br>terry : 6/9/1999<br>alopez : 5/27/1999<br>terry : 5/27/1999<br>carol : 10/28/1998<br>terry : 10/27/1998<br>carol : 10/13/1998<br>carol : 7/28/1998<br>terry : 7/28/1998<br>mark : 2/18/1997<br>carol : 7/1/1996<br>carol : 6/29/1996<br>mark : 12/13/1995<br>mark : 10/16/1995<br>carol : 9/27/1994<br>warfield : 4/20/1994<br>mimadm : 4/13/1994<br>carol : 2/24/1993<br>carol : 10/12/1992
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<strong>#</strong> 305600
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FOCAL DERMAL HYPOPLASIA; FDH
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<em>Alternative titles; symbols</em>
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FODH; DHOF<br />
GOLTZ SYNDROME<br />
GOLTZ-GORLIN SYNDROME
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<strong>SNOMEDCT:</strong> 205573006; &nbsp;
<strong>ORPHA:</strong> 2092; &nbsp;
<strong>DO:</strong> 2120; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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Xp11.23
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Focal dermal hypoplasia
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305600
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X-linked dominant
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3
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PORCN
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300651
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that focal dermal hypoplasia is caused by heterozygous mutation in the PORCN gene (300651) on chromosome Xp11.</p>
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<strong>Description</strong>
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<p>Focal dermal hypoplasia is inherited as an X-linked dominant with in utero lethality in males. The features include atrophy and linear pigmentation of the skin, herniation of fat through the dermal defects, and multiple papillomas of the mucous membranes or skin. In addition, digital anomalies consist of syndactyly, polydactyly, camptodactyly, and absence deformities. Oral anomalies, in addition to lip papillomas, include hypoplastic teeth. Ocular anomalies (coloboma of iris and choroid, strabismus, microphthalmia) have also been present in some cases. Mental retardation occurs in some patients. Striated bones are probably a nearly constant feature (Larregue and Duterque, 1975; Happle and Lenz, 1977). </p><p>Reports from the International Research Symposium on Goltz Syndrome in 2013 were published in the American Journal of Medical Genetics; the authors and subjects of the reports are listed in an introduction by Fete and Fete (2016). </p>
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<strong>Clinical Features</strong>
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<p>Goltz et al. (1962) reported 3 females with a disorder that they called focal dermal hypoplasia. They described the defect as congenital linear areas of thinning of the skin and herniations of adipose tissue in the form of yellowish papules. They identified 2 similar previously reported female patients. Additional features in some of the patients included cleft palate, syndactyly, polydactyly, nail and tooth deformities, ocular anomalies, and sparse hair. </p><p>The mother of a female patient reported by Wodniansky (1957) had skin changes and a sister had bilateral syndactyly of the third and fourth fingers and toes. Warburg (1970) observed microphthalmos with bilateral coloboma of the iris and ectopia lentis in a patient with FDH. Ferguson-Smith (1981) observed a typically affected patient who had coloboma of the iris as a feature. </p><p>Goltz (1992) reviewed the disorder that carries his name. Patients with areas of total absence of skin at birth have been reported. Apocrine gland anomalies and hydrocystomas near the eyes have been described in patients with FDH. Fibrovascular papillomas, particularly in the perineal, vulvar, and perianal regions, have been mistaken for warts and aroused questions about sexual activity or sexual abuse. They may attain massive size, their surfaces may become eroded, and bleeding may occur. Laryngeal papillomas requiring tracheostomy in one case and esophageal papillomas associated with stricture have been described. Longitudinal striation of the long bones, crossing the epiphyses (osteopathia striata), is a frequent finding. The combination of split hand with syndactyly and absence of rays, the so-called lobster-claw hand, has come to be recognized as a striking feature of FDH. Similar deformity may affect the foot. Although 'focal dermal hypoplasia' does not describe all the protean manifestations of the disorder, it is difficult to devise a designation that is better and, as in the case of many genetic and other clinical disorders, the name for the part is used as the name for the whole. </p><p>Buchner and Itin (1992) described typical FDH in a 68-year-old man. He had complete syndactyly between the third and fourth fingers of the right hand from birth. Other than the findings in the skin, Buchner and Itin (1992) stated that 'results from the remainder of the physical examination were unremarkable.' Features consistent with Klinefelter syndrome were not described and karyotype was apparently not performed. </p><p>Landa et al. (1993) described an unusual patient in whom the diagnosis of FDH was first made at the age of 39 years. She showed atrophic erythematous and hyperpigmented linear streaks following Blaschko lines, some of which were in a reticular or cribriform arrangement. Yellow, soft nodules caused by fat herniation were visible mainly in skin folds. The patient had multiple bone anomalies, including longitudinal striation of long bones (osteopathia striata). The left side of the body was generally underdeveloped, and the skin on the left showed more extensive changes than the right. There was coloboma of the left iris, subluxation of the left lens, and bilateral lenticular opacities. Syndactyly affected the second and third fingers of the right hand and the first and second toes of the left foot. Spina bifida occulta of the cervical spine and a smaller left kidney were also observed. </p><p>Wellenreuther et al. (1994) reported the case of a 40-year-old woman who was thought to have typical Goltz syndrome except that no herniation of fatty tissue was observed. Others had suggested that such herniation is not a necessary feature of the disorder. The patient also had ulcerative colitis and obliterative cholangitis of unknown relationship to the skin disorder.</p><p>In a 14-year-old black girl and her mother with cutaneous manifestations of FDH and syndactyly, Lueder and Steiner (1995) found several discrete vascularized peripheral subepithelial corneal opacifications bilaterally with no other ocular abnormalities. They interpreted these corneal lesions as representing an unusual manifestation of FDH. </p><p>Irvine et al. (1996) reported a child with typical cutaneous, ocular, and skeletal manifestations of FDH, who had also preauricular sinuses, omphalocele, duodenal atresia, mediastinal dextraposition, patent ductus arteriosus (see 607411), esophageal reflux, and hydronephrosis. The X-inactivation pattern was markedly skewed in the proband but random in her mother. </p><p>Bellosta et al. (1996) reported a family with affected females in 3 generations. The grandmother, 72 years old, had typical manifestations of FDH, including multiple telangiectases of the legs, linear hyperpigmented macules, skin atrophy with focal herniations of subcutaneous tissue, dystrophic nails, erythematous lesions of the right leg and arm, and a large papilloma of the tongue. X-ray examinations showed osteopathia striata, scoliosis, and some esophageal papillomas. Karyotype analysis revealed chromosomal abnormalities in 5% of the metaphases examined. The pedigree is consistent with X-linked dominant transmission with lethality in the male.</p><p>Gorlin (1998) pointed to the occurrence of giant cell tumors of bone in this disorder.</p><p>In a woman with FDH, Traupe (1999) illustrated lines of Blaschko, suggesting the visual consequences of lyonization. </p><p>Patel et al. (1997) reported an unusually severe presentation of FDH in a fetus with typical defects of the hands and feet, anophthalmia, total anomalous pulmonary venous return, and diaphragmatic hernia, but with minimal skin defects. Han et al. (2000) described an infant girl of 36 weeks' gestational age who had cardiovascular and other lethal internal anomalies in addition to characteristic external anomalies of FDH. The internal anomalies included truncus arteriosus type II with truncal origin of hypoplastic pulmonary arteries, cardiac ventricular septal defect, severe hypoplasia of the lungs and pulmonary veins, massive diaphragmatic hernia, and absence of the right kidney. The infant showed an oblique facial cleft. </p><p>Hancock et al. (2002) described a girl diagnosed with severe Goltz syndrome at 8 months of age when fatty herniations or lipopapillomata were noted. At birth this child was thought to have the same condition as the child described by Van Allen and Myhre (1991), although the latter had ectopia cordis and died in the neonatal period. The child reported by Hancock et al. (2002) had intrauterine growth retardation, bilateral split foot-split hand malformations, a broad-based, skin-covered periumbilical abdominal wall herniation, areas of cutis aplasia congenita and bullous vesicles, microphthalmia, and colobomata of the iris, retina, and optic nerve bilaterally. No chromosomal deletion was found in the Xp22 region. Hancock et al. (2002) suggested that the child described by Van Allen and Myhre (1991) also had a severe form of Goltz syndrome. </p><p>Gordjani et al. (1999) described a 14-year-old girl with FDH who had extensive papillomatosis of the hypopharynx and larynx. These masses were resected subtotally by endoscopic laser treatment. Residual papillomas were left in the subglottic space but tracheotomy was avoided. Complete clinical recovery ensued. Histologic examination did not show morphologic signs of human papillomavirus as an etiologic agent. </p><p>Rodini et al. (2006) reported a newborn girl with a severe form of Goltz syndrome with atypical and extensive facial clefting. Oral anomalies included hypodontia, papillomas of the lip, and right-sided complex facial clefting involving maxilla, oral, nasal, and ocular structures. </p><p>Maas et al. (2009) described the clinical and molecular features of 17 patients with Goltz-Gorlin syndrome. Thirteen classically affected females had a mutation in the PORCN gene, including 2 sisters with germline mosaicism. In a male patient who was classically affected except for relatively mild limb anomalies, a mutation was identified in fibroblast samples from affected and unaffected areas, with a lower signal intensity at the mutation site in unaffected fibroblasts, suggestive of somatic mosaicism. No mutations were identified in the 3 remaining female patients, who were mildly affected, with features limited to focal dermal hypoplasia and hyperpigmentation following Blaschko lines. Two mutation-positive women had 1 and 2 female fetuses, respectively, with a phenotype resembling either the limb-body wall complex (217100) or the pentalogy of Cantrell (see 313850). Maas et al. (2009) suggested that some cases carrying the latter diagnoses may in fact be severely affected fetuses with Goltz-Gorlin syndrome. </p><p>Gnamey et al. (2010) reported a male infant with focal dermal hypoplasia who also had an extensive area of aplasia cutis congenita (ACC; 107600) of the scalp vertex, with cerebral structures visible through the defect. He had cutaneous atrophy with areas of hyperpigmentation on the right leg, hypoplasia of the first toe of the right foot, absence of the fifth toe of the left foot, and bilateral complete tissue syndactyly with fusion of the toes. Radiography revealed hypoplastic mandible, absence of left first and second metatarsals, absence of the right first metatarsal, and the femora and tibiae were dystrophic with flattened diaphyses. The patient died at 23 days due to neurologic complications. Gnamey et al. (2010) reviewed 18 previously reported cases of FDH and stated that this was the first in which there was associated aplasia cutis congenita. </p><p>Smigiel et al. (2011) reported an infant girl with a nonsense mutation in the PORCN gene, who had findings fitting both Goltz-Gorlin syndrome, including sparse hair, clinical anophthalmia, clefting, bifid nose, irregular vermilion of both lips, asymmetric limb malformations, caudal appendage, linear aplastic skin defects, and unilateral hearing loss, and the pentalogy of Cantrell, including absent lower sternum, anterior diaphragmatic hernia, ectopia cordis, and omphalocele. Smigiel et al. (2011) stated that this was the third patient reported to have this combination of features. </p>
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<strong>Inheritance</strong>
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<p>Ninety percent of individuals with FDH are female, with heterozygous or mosaic mutations in the PORCN gene. Males (mosaic mutations) account for 10% of affected individuals; heterozygous nonmosaic mutations are thought to be lethal in males. Approximately 5% of affected females inherit the gene defect from a parent; 95% of affected females have a new mutation (summary by Deidrick et al., 2016). </p><p>Goltz et al. (1962) noted that all 5 of their cases were female, that the disorder occurred only in female antecedents and other relatives, and that miscarriages are frequent in these families. They had affected females in 4 successive generations in 1 family and in 2 generations of another. </p><p>Toro-Sola et al. (1975) reported what they purported to be the eighth case in a male. From a review of published cases, they concluded that multifactorial inheritance is likely. </p><p>Wettke-Schafer and Kantner (1983) stated that the inheritance of FDH as an X-linked dominant lethal in hemizygous males was not confirmed. At least 2 instances of father-to-daughter transmission had been reported (Larregue and Duterque, 1975; Burgdorf et al., 1981). In a review on FDH, Temple et al. (1990) suggested that the disorder in males may be the result of half-chromatid mutations. If the mutation occurs early enough in the developing embryo, the gonads would also be affected, and this may explain reports of father-to-daughter transmission. In keeping with this hypothesis, reported affected males have always been the first affected person in their families. </p><p>Gorski (1991) observed FDH in father and daughter. Study of somatic cell hybrids constructed by fusing HPRT-deficient rodent fibroblasts with either patient dermal fibroblasts or peripheral white blood cells showed that while hybrids constructed from skin fibroblasts contained an active X chromosome inherited from either of the patient's parents, hybrids constructed from white cells showed a skewed pattern of X inactivation; 11 of 11 hybrids contained an active maternal X chromosome (p = 0.001). These findings were interpreted as indicating that FDH was associated with nonrandom X inactivation consistent with X-linked inheritance and that the patient's father was mosaic for a mutant FDH allele. </p>
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<strong>Cytogenetics</strong>
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<p>Friedman et al. (1988) described a child with FDH who was found to have a terminal deletion of the short arm of the X chromosome with the breakpoint in Xp22.31. They suggested that this is the site of the gene. Zuffardi et al. (1989) observed a child with some of the manifestations of FDH in association with a deletion in 9q32-qter. They questioned whether FDH may in fact be autosomal, not X-linked, or whether there may be an autosomal form. </p><p>Naritomi et al. (1992) described 2 unrelated girls with deletion in the terminal portion of the short arm of the X chromosome. They had features interpreted as combining those of the Goltz and Aicardi syndromes. From this and the clinical and cytogenetic findings in similar cases, Naritomi et al. (1992) concluded that these may be contiguous gene syndromes in the region Xp22.31 (or, alternatively, caused by mutations in separate genes that are closely situated to each other). Gorlin (1998) stated that the condition described by Naritomi et al. (1992) was 'clearly MIDAS syndrome' (MLS; 309801), which has been mapped to Xp22.31. </p><p>Wang et al. (2007) cohybridized genomic DNA of girls with FDH with reference female DNA onto a genomewide oligonucleotide comparative genomic hybridization (CGH) array and identified a 219-kb region of copy number loss in 11p11.23 in DNA from 2 affected individuals. This region, which encompassed 5 genes, including PORCN, was not deleted in her unaffected parents. Another affected girl was found to have the nearly identical mutation. In both, there was 100% inactivation of the paternally inherited X chromosomes in peripheral blood leukocyte (PBL) DNA. The finding of 2 such nearly identical heterozygous genomic deletions may indicate that this is a common mutational mechanism for FDH, possibly mediated by low-copy repeat sequences. </p><p>Grzeschik et al. (2007) used CGH to study 6 affected members of 1 family segregating FDH and 10 unrelated affected individuals. In 2 of those affected, they identified deletion in Xp11.23 that overlapped by approximately 80 kb and included 4 genes, including PORCN. Grzeschik et al. (2007) concluded that FDH can be a component of a contiguous gene syndrome. They also noted skewed X-chromosome activation. </p>
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<strong>Molecular Genetics</strong>
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<p>Wang et al. (2007) amplified and sequenced all coding exons of the PORCN gene, using genomic DNA of 15 girls with confirmed or suspected FDH and identified heterozygous mutations in 10 of them (e.g., 300651.0001-300651.0002). None of the mutations were detected in available parental DNA samples, except for a duplication mutation in exon 12 in 1 individual (300651.0001). The sequencing profiles of her father's DNA showed very low signals for the mutant sequence superimposed on the wildtype sequence, suggesting somatic mosaicism. </p><p>In 8 individuals with FDH, Grzeschik et al. (2007) identified several heterozygous nonsense mutations and 1 splice site mutation (e.g., 300651.0003-300651.0004). </p><p>Leoyklang et al. (2008) reported 3 unrelated Thai girls with sporadic FDH in whom they identified mutations in the PORCN gene (see, e.g., 300651.0005), confirming that PORCN is the gene responsible for FDH across different populations. One of the girls displayed unilateral athelia, which the authors stated was previously unreported in this disorder. </p><p>In 24 unrelated FDH patients from different ethnic backgrounds, Bornholdt et al. (2009) identified 23 different PORCN mutations, including 3 microdeletions encompassing PORCN as well as neighboring genes, 12 nonsense mutations resulting in loss of function, 1 splice site mutation, and 8 missense mutations at highly conserved amino acids (see, e.g., 300651.0005). FDH patients overcome the consequences of potentially lethal X-chromosomal mutations by extreme skewing of X-chromosome inactivation in females, enabling transmission of the trait in families, or by postzygotic mosaicism both in male and female individuals. Bornholdt et al. (2009) noted that molecular characterization of PORCN mutations in cases diagnosed as Goltz syndrome is particularly relevant for genetic counseling of patients and their families, since no functional diagnostic test is available and carriers of the mutation might otherwise be overlooked due to considerable phenotypic variability associated with the mosaic status. </p><p>Froyen et al. (2009) analyzed the PORCN gene in 6 Finnish and 2 Belgian patients with FDH and identified a 150-kb deletion, encompassing PORCN and at least 5 other genes in a 13-year-old Finnish girl. In addition, they identified 2 different missense mutations, 1 in a 6-year-old Belgian girl and the other in a 16-year-old Finnish girl; the latter mutation (R365Q; 300651.0005) had previously been identified in a Thai girl with a severe form of FDH by Leoyklang et al. (2008) and in a girl with a mild FDH phenotype by Bornholdt et al. (2009). Froyen et al. (2009) stated that these were the first causal PORCN mutations identified in the Finnish and Belgian FDH populations. </p>
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<strong>See Also:</strong>
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Feinberg and Menter (1976); Goltz et al. (1970); Gorlin et al.
(1963); Holden and Akers (1967); Kunze et al. (1979); Ruiz-Maldonado
et al. (1974)
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<strong>REFERENCES</strong>
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<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Bellosta, M., Trespiolli, D., Ghiselli, E., Capra, E., Scappaticci, S.
<strong>Focal dermal hypoplasia: report of a family with 7 affected women in 3 generations.</strong>
Europ. J. Derm. 6: 499-500, 1996.
</p>
</li>
<li>
<p class="mim-text-font">
Bornholdt, D., Oeffner, F., Konig, A., Happle, R., Alanay, Y., Ascherman, J., Benke, P. J., Boente, M. C., van der Burgt, I., Chassaing, N., Ellis, I., Francisco, C. R. I., and 22 others.
<strong>PORCN mutations in focal dermal hypoplasia: coping with lethality.</strong>
Hum. Mutat. 30: E618-E628, 2009. Note: Electronic Article. Erratum: Hum. Mutat. 30: 1472-1473, 2009.
[PubMed: 19309688]
[Full Text: https://doi.org/10.1002/humu.20992]
</p>
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<li>
<p class="mim-text-font">
Buchner, S. A., Itin, P.
<strong>Focal dermal hypoplasia syndrome in a male patient: report of a case and histologic and immunohistochemical studies.</strong>
Arch. Derm. 128: 1078-1082, 1992.
[PubMed: 1497362]
[Full Text: https://doi.org/10.1001/archderm.1992.01680180072008]
</p>
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<p class="mim-text-font">
Burgdorf, W. H., Dick, G. F., Soderberg, H. D., Goltz, R. W.
<strong>Focal dermal hypoplasia in a father and daughter.</strong>
J. Am. Acad. Derm. 4: 273-277, 1981.
[PubMed: 7217396]
[Full Text: https://doi.org/10.1016/s0190-9622(81)70027-6]
</p>
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<p class="mim-text-font">
Deidrick, K. K. M., Early, M., Constance, J., Stein, M., Fete, T. J.
<strong>Cognitive and psychological functioning in focal dermal hypoplasia.</strong>
Am. J. Med. Genet. C Semin. Med. Genet. 172C: 34-40, 2016.
[PubMed: 26818018]
[Full Text: https://doi.org/10.1002/ajmg.c.31471]
</p>
</li>
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<p class="mim-text-font">
Feinberg, A., Menter, M. A.
<strong>Focal dermal hypoplasia (Goltz syndrome) in a male: a case report.</strong>
S. Afr. Med. J. 50: 554-555, 1976.
[PubMed: 1273724]
</p>
</li>
<li>
<p class="mim-text-font">
Ferguson-Smith, M. A.
<strong>Personal Communication.</strong>
Glasgow, Scotland 7/9/1981.
</p>
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<li>
<p class="mim-text-font">
Fete, T. J., Fete, M.
<strong>International Research Symposium on Goltz syndrome.</strong>
Am. J. Med. Genet. Part C Semin. Med. Genet. 172C: 3-6, 2016.
[PubMed: 26834080]
[Full Text: https://doi.org/10.1002/ajmg.c.31475]
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Friedman, P. A., Rao, K. W., Teplin, S. W., Aylsworth, A. S.
<strong>Provisional deletion mapping of the focal dermal hypoplasia (FDH) gene to Xp22.31. (Abstract)</strong>
Am. J. Hum. Genet. 43: A50 only, 1988.
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<p class="mim-text-font">
Froyen, G., Govaerts, K., Van Esch, H., Verbeeck, J., Tuomi, M.-L., Heikkila, H., Torniainen, S., Devriendt, K., Fryns, J.-P., Marynen, P., Jarvela, I., Ala-Mello, S.
<strong>Novel PORCN mutations in focal dermal hypoplasia.</strong>
Clin. Genet. 76: 535-543, 2009.
[PubMed: 19863546]
[Full Text: https://doi.org/10.1111/j.1399-0004.2009.01248.x]
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<p class="mim-text-font">
Gnamey, D. K., Koffi, K. S., Nagalo, K., Guedenon, K. M., Akakpo-Numado, G. K., Balaka, B., Tatagan-Agbi, K., Atakouma, D. Y.
<strong>Aplasia cutis congenita associated with Goltz syndrome in a male neonate.</strong>
Genet. Counsel. 21: 41-47, 2010.
[PubMed: 20420028]
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<p class="mim-text-font">
Goltz, R. W., Henderson, R. R., Hitch, J. M., Ott, J. E.
<strong>Focal dermal hypoplasia syndrome: a review of the literature and report of two cases.</strong>
Arch. Derm. 101: 1-11, 1970.
[PubMed: 5416790]
[Full Text: https://doi.org/10.1001/archderm.101.1.1]
</p>
</li>
<li>
<p class="mim-text-font">
Goltz, R. W., Peterson, W. C., Jr., Gorlin, R. J., Ravits, H. G.
<strong>Focal dermal hypoplasia.</strong>
Arch. Derm. 86: 708-717, 1962.
[PubMed: 13948891]
[Full Text: https://doi.org/10.1001/archderm.1962.01590120006002]
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<p class="mim-text-font">
Goltz, R. W.
<strong>Focal dermal hypoplasia syndrome: an update. (Editorial)</strong>
Arch. Derm. 128: 1108-1111, 1992.
[PubMed: 1497368]
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<p class="mim-text-font">
Gordjani, N., Herdeg, S., Ross, U. H., Grimme, H., Kleinschmidt, M., Brandis, M.
<strong>Focal dermal hypoplasia (Goltz-Gorlin syndrome) associated with obstructive papillomatosis of the larynx and hypopharynx.</strong>
Europ. J. Derm. 9: 618-620, 1999.
[PubMed: 10586128]
</p>
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<li>
<p class="mim-text-font">
Gorlin, R. J., Meskin, L. H., Peterson, W. C., Jr., Goltz, R. W.
<strong>Focal dermal hypoplasia syndrome.</strong>
Acta Derm. Venerol. 43: 421-440, 1963.
[PubMed: 14051108]
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<li>
<p class="mim-text-font">
Gorlin, R. J.
<strong>Personal Communication.</strong>
Minneapolis, Minn. 10/19/1998.
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<li>
<p class="mim-text-font">
Gorski, J. L.
<strong>Father-to-daughter transmission of focal dermal hypoplasia associated with nonrandom X-inactivation: support for X-linked inheritance and paternal X chromosome mosaicism.</strong>
Am. J. Med. Genet. 40: 332-337, 1991.
[PubMed: 1951439]
[Full Text: https://doi.org/10.1002/ajmg.1320400317]
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<p class="mim-text-font">
Grzeschik, K.-H., Bornholdt, D., Oeffner, F., Konig, A., Boente, M. del C., Fritz, B., Hertl, M., Grasshoff, U., Hofling, K., Oji, V., Paradisi, M., Schuchardt, C., Szalai, Z., Tadini, G., Traupe, H., Happle, R.
<strong>Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.</strong>
Nature Genet. 39: 833-835, 2007.
[PubMed: 17546031]
[Full Text: https://doi.org/10.1038/ng2052]
</p>
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Han, X. Y., Wu, S. S., Conway, D. H., Pawel, B. R., Punnett, H. H., Martin, R. A., de Chadarevian, J.-P.
<strong>Truncus arteriosus and other lethal internal anomalies in Goltz syndrome.</strong>
Am. J. Med. Genet. 90: 45-48, 2000.
[PubMed: 10602117]
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Hancock, S., Pryde, P., Fong, C., Brazy, J. E., Stewart, K., Favour, A., Pauli, R. M.
<strong>Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution.</strong>
Am. J. Med. Genet. 110: 370-379, 2002.
[PubMed: 12116212]
[Full Text: https://doi.org/10.1002/ajmg.10456]
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Happle, R., Lenz, W.
<strong>Striation of bones in focal dermal hypoplasia: manifestation of functional mosaicism?</strong>
Brit. J. Derm. 96: 133-138, 1977.
[PubMed: 843447]
[Full Text: https://doi.org/10.1111/j.1365-2133.1977.tb12534.x]
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Holden, J. D., Akers, W. A.
<strong>Goltz&#x27;s syndrome: focal dermal hypoplasia.</strong>
Am. J. Dis. Child. 114: 292-300, 1967.
[PubMed: 4292216]
[Full Text: https://doi.org/10.1001/archpedi.1967.02090240106009]
</p>
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Irvine, A. D., Stewart, F. J., Bingham, E. A., Nevin, N. C., Boston, V. E.
<strong>Focal dermal hypoplasia (Goltz syndrome) associated with intestinal malrotation and mediastinal dextroposition.</strong>
Am. J. Med. Genet. 62: 213-215, 1996.
[PubMed: 8882775]
[Full Text: https://doi.org/10.1002/(SICI)1096-8628(19960329)62:3&lt;213::AID-AJMG2&gt;3.0.CO;2-U]
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<li>
<p class="mim-text-font">
Kunze, J., Heyne, K., Wiedemann, H.-R.
<strong>Diaphragmatic hernia in a female newborn with focal dermal hypoplasia and marked asymmetric malformations (Goltz-Gorlin syndrome).</strong>
Europ. J. Pediat. 131: 213-218, 1979.
[PubMed: 477680]
[Full Text: https://doi.org/10.1007/BF00538945]
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Landa, N., Oleaga, J. M., Raton, J. A., Gardeazabal, J., Diaz-Perez, J. L.
<strong>Focal dermal hypoplasia (Goltz syndrome): an adult case with multisystemic involvement.</strong>
J. Am. Acad. Derm. 28: 86-89, 1993.
[PubMed: 8425976]
[Full Text: https://doi.org/10.1016/0190-9622(93)70015-l]
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<p class="mim-text-font">
Larregue, M., Duterque, M.
<strong>Striated osteopathy in focal dermal hypoplasia.</strong>
Arch. Derm. 111: 1365 only, 1975.
[PubMed: 1190805]
[Full Text: https://doi.org/10.1001/archderm.1975.01630220129019]
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Leoyklang, P., Suphapeetiporn, K., Wananukul, S., Shotelersuk, V.
<strong>Three novel mutations in the PORCN gene underlying focal dermal hypoplasia.</strong>
Clin. Genet. 73: 373-379, 2008.
[PubMed: 18325042]
[Full Text: https://doi.org/10.1111/j.1399-0004.2008.00975.x]
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Lueder, G. T., Steiner, R. D.
<strong>Corneal abnormalities in a mother and daughter with focal dermal hypoplasia (Goltz-Gorlin syndrome).</strong>
Am. J. Ophthal. 120: 256-258, 1995.
[PubMed: 7639315]
[Full Text: https://doi.org/10.1016/s0002-9394(14)72621-2]
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Maas, S. M., Lombardi, M. P., van Essen, A. J., Wakeling, E. L., Castle, B., Temple, I. K., Kumar, V. K. A., Writzl, K., Hennekam, R. C. M.
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[PubMed: 19586929]
[Full Text: https://doi.org/10.1136/jmg.2009.068403]
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Naritomi, K., Izumikawa, Y., Nagataki, S., Fukushima, Y., Wakui, K., Niikawa, N., Hirayama, K.
<strong>Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome?</strong>
Am. J. Med. Genet. 43: 839-843, 1992.
[PubMed: 1642272]
[Full Text: https://doi.org/10.1002/ajmg.1320430517]
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Patel, J. S., Maher, E. R., Charles, A. K.
<strong>Focal dermal hypoplasia (Goltz syndrome) presenting as a severe fetal malformation syndrome.</strong>
Clin. Dysmorph. 6: 267-272, 1997.
[PubMed: 9220199]
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[PubMed: 16761285]
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Ruiz-Maldonado, R., Carnevale, A., Tamayo, L., De Montiel, E. M.
<strong>Focal dermal hypoplasia.</strong>
Clin. Genet. 6: 36-45, 1974.
[PubMed: 4426129]
[Full Text: https://doi.org/10.1111/j.1399-0004.1974.tb00628.x]
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Smigiel, R., Jakubiak, A., Lombardi, M. P., Jaworski, W., Slezak, R., Patkowski, D., Hennekam, R. C.
<strong>Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell: case report and review of the literature.</strong>
Am. J. Med. Genet. 155A: 1102-1105, 2011.
[PubMed: 21484999]
[Full Text: https://doi.org/10.1002/ajmg.a.33895]
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<strong>Focal dermal hypoplasia (Goltz syndrome).</strong>
J. Med. Genet. 27: 180-187, 1990.
[PubMed: 2325092]
[Full Text: https://doi.org/10.1136/jmg.27.3.180]
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Toro-Sola, M. A., Kistenmacher, M. L., Punnett, H. H., DiGeorge, A. M.
<strong>Focal dermal hypoplasia syndrome in a male.</strong>
Clin. Genet. 7: 325-327, 1975.
[PubMed: 1126054]
[Full Text: https://doi.org/10.1111/j.1399-0004.1975.tb00336.x]
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Traupe, H.
<strong>Functional X-chromosomal mosaicism of the skin: Rudolf Happle and the lines of Alfred Blaschko.</strong>
Am. J. Med. Genet. 85: 324-329, 1999.
[PubMed: 10398252]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19990806)85:4&lt;324::aid-ajmg2&gt;3.0.co;2-o]
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<p class="mim-text-font">
Van Allen, M. I., Myhre, S.
<strong>New multiple congenital anomalies syndrome in a stillborn infant of consanguinous (sic) parents and a prediabetic pregnancy.</strong>
Am. J. Med. Genet. 38: 523-528, 1991.
[PubMed: 2063890]
[Full Text: https://doi.org/10.1002/ajmg.1320380404]
</p>
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Wang, X., Reid Sutton, V., Peraza-Llanes, J. O., Yu, Z., Rosetta, R., Kou, Y.-C., Eble, T. N., Patel, A., Thaller, C., Fang, P., Van den Veyver, I. B.
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Nature Genet. 39: 836-838, 2007.
[PubMed: 17546030]
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Warburg, M.
<strong>Focal dermal hypoplasia. Ocular and general manifestations with a survey of the literature.</strong>
Acta Ophthal. 48: 525-536, 1970.
[PubMed: 4990274]
[Full Text: https://doi.org/10.1111/j.1755-3768.1970.tb03754.x]
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Wellenreuther, U., Adler, A., Haas, N., Happle, R., Czarnetzki, B. M.
<strong>A case of Goltz syndrome with ulcerative colitis and obliterative cholangitis.</strong>
Europ. J. Derm. 4: 371-373, 1994.
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Wettke-Schafer, R., Kantner, G.
<strong>X-linked dominant inherited diseases with lethality in hemizygous males.</strong>
Hum. Genet. 64: 1-23, 1983.
[PubMed: 6873941]
[Full Text: https://doi.org/10.1007/BF00289472]
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<li>
<p class="mim-text-font">
Wodniansky, P.
<strong>Ueber die Formen der congenitalen Poikilodermie.</strong>
Arch. Klin. Exp. Derm. 205: 331-342, 1957.
[PubMed: 13522016]
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Zuffardi, O., Caiulo, A., Maraschio, P., Tupler, R., Bianchi, E., Amisano, P., Beluffi, G., Moratti, R., Liguri, G.
<strong>Regional assignment of the loci for adenylate kinase to 9q32 and for alpha(1)-acid glycoprotein to 9q31-q32. A locus for Goltz syndrome in region 9q32-qter?</strong>
Hum. Genet. 82: 17-19, 1989.
[PubMed: 2541064]
[Full Text: https://doi.org/10.1007/BF00288264]
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