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<title>
Entry
- #100300 - ADAMS-OLIVER SYNDROME 1; AOS1
- OMIM
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<span class="h4">#100300</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/100300"><strong>Clinical Synopsis</strong></a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<div><a href="https://wormbase.org/resources/disease/DOID:0060227" 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>
</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>ORPHA:</strong> 974<br />
<strong>DO:</strong> 0060227<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>
100300
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
ADAMS-OLIVER SYNDROME 1; AOS1
</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">
AOS<br />
ABSENCE DEFECT OF LIMBS, SCALP, AND SKULL<br />
CONGENITAL SCALP DEFECTS WITH DISTAL LIMB REDUCTION ANOMALIES<br />
APLASIA CUTIS CONGENITA WITH TERMINAL TRANSVERSE LIMB DEFECTS
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="includedTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
Other entities represented in this entry:
</span>
</p>
</div>
<div>
<span class="h3 mim-font">
APLASIA CUTIS CONGENITA, CONGENITAL HEART DEFECT, AND FRONTONASAL CYSTS, INCLUDED
</span>
</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/3/571?start=-3&limit=10&highlight=571">
3q13.32-q13.33
</a>
</span>
</td>
<td>
<span class="mim-font">
Adams-Oliver syndrome 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/100300"> 100300 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
ARHGAP31
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610911"> 610911 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/100300" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS100300" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/100300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/100300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Microcephaly <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">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> 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> <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 /> -
Aplasia cutis congenita over parietal area <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863492&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863492</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004476" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004476</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004476" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004476</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">
- Esotropia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16596007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16596007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/378.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/378.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014877&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014877</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000565" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000565</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000565" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000565</a>]</span><br /> -
Microphthalmia <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 />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- 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>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Congenital heart defects (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13213009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13213009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q24.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q24.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/746.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">746.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018798&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018798</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001627" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001627</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001627" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001627</a>]</span><br /> -
Ventricular septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30288003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30288003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253549006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253549006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/768552007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">768552007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018818&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018818</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span><br /> -
Atrial septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253366007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253366007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405752007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405752007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70142008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70142008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018817</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001631</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001631</a>]</span><br /> -
Pulmonary valve stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56786000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56786000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034089&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034089</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001642" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001642</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001642" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001642</a>]</span><br /> -
Tetralogy of Fallot <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86299006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86299006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0039685&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039685</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001636" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001636</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001636" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001636</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Vascular </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pulmonary artery stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95441000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95441000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/449125001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">449125001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q25.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q25.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0238397&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0238397</a>, <a href="https://bioportal.bioontology.org/search?q=C0265911&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265911</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004415" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004415</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004415" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004415</a>]</span><br /> -
Pulmonary hypertension <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70995007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70995007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I27.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I27.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020542&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020542</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002092" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002092</a>]</span><br /> -
Vascular malformations <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/783806000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">783806000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158570&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158570</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> External Features </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Poland sequence <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38371006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38371006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q79.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q79.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0032357&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0032357</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">
- Accessory 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 />
</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> Internal Genitalia (Female) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Imperforate vaginal hymen <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863491&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863491</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skull </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Skull defect at vertex <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863493&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863493</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">
- Terminal transverse defects, asymmetric (minimal to absence of a limb) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970142&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970142</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">
- Brachydactyly <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 /> -
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 />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- 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 /> -
Malformed toes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970346</a>]</span><br /> -
Talipes equinovarus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397932003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397932003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156475005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156475005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.89</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</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">
- Aplasia cutis congenita over posterior parietal area <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863495&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863495</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007590" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007590</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007590" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007590</a>]</span><br /> -
Aplasia cutis congenita on trunk or limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863496&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863496</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007589" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007589</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007589" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007589</a>]</span><br /> -
Cutis marmorata <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26825009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26825009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263401&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263401</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000965" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000965</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000965" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000965</a>]</span><br /> -
Thin, hyperpigmented skin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863497&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863497</a>]</span><br /> -
Dilated scalp veins radiating from periphery of scalp defect <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863498&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863498</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">
- Hypoplastic nails <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11375002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11375002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263523&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263523</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001792" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001792</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001792" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001792</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Single-multiple round-oval areas of alopecia in parietal area <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863499&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863499</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">
- Encephalocele (uncommon) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48777005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48777005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55999004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55999004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253101008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253101008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q01.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q01.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q01</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014065&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014065</a>, <a href="https://bioportal.bioontology.org/search?q=C4551722&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551722</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011815" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011815</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002084</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002084</a>]</span><br /> -
Mental retardation (uncommon) <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 /> -
Developmental delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248290002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248290002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a>, <a href="https://bioportal.bioontology.org/search?q=C0424605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424605</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
Enlarged ventricles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278923</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span><br /> -
Periventricular calcifications <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676228&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676228</a>]</span><br /> -
Periventricular leukomalacia (reported in 2 patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230769007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230769007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/P91.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">P91.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/779.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">779.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023529&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023529</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006970" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006970</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006970" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006970</a>]</span><br /> -
Hypoplasia of the corpus callosum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204043002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204043002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0344482&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344482</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002079" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002079</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002079" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002079</a>]</span><br /> -
Cortical dysplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253153000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253153000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431380&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431380</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002539" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002539</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002539" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002539</a>]</span><br /> -
Pachygyria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23024003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23024003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q04.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q04.8</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q04.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q04.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001302" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001302</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001302" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001302</a>]</span><br /> -
Polymicrogyria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4945003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4945003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266464&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266464</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002126</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002126</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
Phenotype is classically defined as aplasia cutis and transverse limb defects<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the Rho GTPase-activating protein 31 gene (ARHGAP31, <a href="/entry/610911#0001">610911.0001</a>)<br />
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<h5>
Adams-Oliver syndrome
- <a href="/phenotypicSeries/PS100300">PS100300</a>
- 6 Entries
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<strong>Location</strong>
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<strong>Phenotype</strong>
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<strong>Inheritance</strong>
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<strong>Phenotype<br />mapping key</strong>
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<strong>Phenotype<br />MIM number</strong>
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<strong>Gene/Locus</strong>
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<strong>Gene/Locus<br />MIM number</strong>
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<span class="mim-font">
<a href="/geneMap/3/448?start=-3&limit=10&highlight=448"> 3p14.1 </a>
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<span class="mim-font">
<a href="/entry/615297"> Adams-Oliver syndrome 4 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/615297"> 615297 </a>
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<a href="/entry/614789"> EOGT </a>
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<a href="/entry/614789"> 614789 </a>
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<span class="mim-font">
<a href="/geneMap/3/571?start=-3&limit=10&highlight=571"> 3q13.32-q13.33 </a>
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<a href="/entry/100300"> Adams-Oliver syndrome 1 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/100300"> 100300 </a>
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<a href="/entry/610911"> ARHGAP31 </a>
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<span class="mim-font">
<a href="/entry/610911"> 610911 </a>
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<a href="/geneMap/4/139?start=-3&limit=10&highlight=139"> 4p15.2 </a>
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<a href="/entry/614814"> Adams-Oliver syndrome 3 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/614814"> 614814 </a>
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<a href="/entry/147183"> RBPJ </a>
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<span class="mim-font">
<a href="/entry/147183"> 147183 </a>
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<span class="mim-font">
<a href="/geneMap/9/656?start=-3&limit=10&highlight=656"> 9q34.3 </a>
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<span class="mim-font">
<a href="/entry/616028"> Adams-Oliver syndrome 5 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/616028"> 616028 </a>
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<a href="/entry/190198"> NOTCH1 </a>
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<span class="mim-font">
<a href="/entry/190198"> 190198 </a>
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<span class="mim-font">
<a href="/geneMap/15/112?start=-3&limit=10&highlight=112"> 15q15.1 </a>
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<a href="/entry/616589"> Adams-Oliver syndrome 6 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/616589"> 616589 </a>
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<a href="/entry/605185"> DLL4 </a>
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<span class="mim-font">
<a href="/entry/605185"> 605185 </a>
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<span class="mim-font">
<a href="/geneMap/19/291?start=-3&limit=10&highlight=291"> 19p13.2 </a>
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<span class="mim-font">
<a href="/entry/614219"> Adams-Oliver syndrome 2 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/614219"> 614219 </a>
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<a href="/entry/614194"> DOCK6 </a>
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<span class="mim-font">
<a href="/entry/614194"> 614194 </a>
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Adams-Oliver syndrome-1 (AOS1) is caused by heterozygous mutation in the ARHGAP31 gene (<a href="/entry/610911">610911</a>) on chromosome 3q13.</p>
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<strong>Description</strong>
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<p>Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by <a href="#34" class="mim-tip-reference" title="Stittrich, A.-B., Lehman, A., Bodian, D. L., Ashworth, J., Zong, Z., Li, H., Lam, P., Khromykh, A., Iyer, R. K., Vockley, J. G., Baveja, R., Silva, E. S., Dixon, J., Leon, E. L., Solomon, B. D., Glusman, G., Niederhuber, J. E., Roach, J. C., Patel, M. S. &lt;strong&gt;Mutations in NOTCH1 cause Adams-Oliver syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 95: 275-284, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25132448/&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;25132448&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=25132448[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2014.07.011&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="25132448">Stittrich et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25132448" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Adams-Oliver Syndrome</em></strong></p><p>
Other autosomal dominant forms of Adams-Oliver syndrome include AOS3 (<a href="/entry/614814">614814</a>), caused by mutation in the RBPJ gene (<a href="/entry/147183">147183</a>) on chromosome 4p15; AOS5 (<a href="/entry/616028">616028</a>), caused by mutation in the NOTCH1 gene (<a href="/entry/190198">190198</a>) on chromosome 9q34; and AOS6 (<a href="/entry/616589">616589</a>), caused by mutation in the DLL4 gene (<a href="/entry/605185">605185</a>) on chromosome 15q15.1.</p><p>Autosomal recessive forms of Adams-Oliver syndrome include AOS2 (<a href="/entry/614219">614219</a>), caused by mutation in the DOCK6 gene (<a href="/entry/614194">614194</a>) on chromosome 19p13, and AOS4 (<a href="/entry/615297">615297</a>), caused by mutation in the EOGT gene (<a href="/entry/614789">614789</a>) on chromosome 3p14.</p>
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<strong>Clinical Features</strong>
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<p><a href="#1" class="mim-tip-reference" title="Adams, F. H., Oliver, C. P. &lt;strong&gt;Hereditary deformities in man due to arrested development.&lt;/strong&gt; J. Hered. 36: 3-7, 1945."None>Adams and Oliver (1945)</a> reported a boy with absence of the lower extremities below the midcalf region, absence of all digits and some of the metacarpals of the right hand, a denuded ulcerated area on the vertex of the scalp present at birth, and a bony defect of the skull underlying the scalp defect. The skin and skull lesions were similar to those of aplasia cutis congenita (ACC; <a href="/entry/107600">107600</a>). The proband had 4 unaffected brothers and a sister and brother with identical defects of limbs, scalp, and skull. The father was born with absence of toes 2-5 on the left foot, short terminal phalanges of all fingers, and a scalp defect. The father was 1 of 10 children, 3 of whom had defects of the extremities. The father's father was said to have had short fingers. <a href="#40" class="mim-tip-reference" title="Whitley, C. B., Gorlin, R. J. &lt;strong&gt;Adams-Oliver syndrome revisited.&lt;/strong&gt; Am. J. Med. Genet. 40: 319-326, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1951437/&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;1951437&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320400315&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="1951437">Whitley and Gorlin (1991)</a> provided a follow-up on the family studied by <a href="#1" class="mim-tip-reference" title="Adams, F. H., Oliver, C. P. &lt;strong&gt;Hereditary deformities in man due to arrested development.&lt;/strong&gt; J. Hered. 36: 3-7, 1945."None>Adams and Oliver (1945)</a>; the disorder had been transmitted to a member of a fourth generation. In the intervening 45 years, the original proband had survived to adulthood and was employed, using orthotic devices for lower limb defects. He reported good quality of life and no other medical problems. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1951437" 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="Scribanu, N., Temtamy, S. A. &lt;strong&gt;Syndrome of aplasia cutis congenita with terminal transverse defects of limbs.&lt;/strong&gt; J. Pediat. 87: 79-82, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1173820/&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;1173820&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(75)80074-6&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="1173820">Scribanu and Temtamy (1975)</a> described a family with aplasia cutis congenita with terminal transverse defects of the limbs. The proband was a 3-year-old boy with striking cutis marmorata telangiectatica congenita (CMTC; <a href="/entry/219250">219250</a>). There was variable expressivity and reduced penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1173820" 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="#38" class="mim-tip-reference" title="Toriello, H. V., Graff, R. G., Florentine, M. F., Lacina, S., Moore, W. D. &lt;strong&gt;Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome?&lt;/strong&gt; Am. J. Med. Genet. 29: 269-276, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3354598/&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;3354598&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320290204&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="3354598">Toriello et al. (1988)</a> described cutis marmorata telangiectatica congenita in a child with the Adams-Oliver syndrome. He also had pulmonary hypertension in association with pulmonary vein stenosis and died at age 4 months of cardiopulmonary arrest. The mother had CMTC without other features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3354598" 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="Kuster, W., Lenz, W., Kaariainen, H., Majewski, F. &lt;strong&gt;Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): report of ten cases and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 31: 99-115, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3066221/&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;3066221&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320310112&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="3066221">Kuster et al. (1988)</a> described 10 individuals with AOS, 7 of them in 2 families and 3 sporadic. The most common features included absence of middle and distal phalanges, brachydactyly, malformed toes, syndactyly of the toes, nail dysplasia, hairless scalp patches, and osseous skull defects. One child had tetralogy of Fallot. The authors identified 11 affected families and 19 sporadic cases that had been reported and found great variability of limb anomalies, ranging from brachydactyly to absent lower limbs. The family data suggested autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3066221" 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="#29" class="mim-tip-reference" title="Santos, H., Cordeiro, I., Menezes, I. &lt;strong&gt;Aplasia cutis congenita associated with congenital heart defect, not a coincidence? (Letter)&lt;/strong&gt; Am. J. Med. Genet. 34: 614-615, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2519562/&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;2519562&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320340437&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="2519562">Santos et al. (1989)</a> reported a girl with scalp ACC and no distal limb anomalies, who also had aortic coarctation and ventricular septal defect; her mother had ACC and upper and lower limb reductions, and her maternal grandmother had typical ACC. The authors suggested that congenital heart disease could be a component manifestation of AOS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2519562" 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="#17" class="mim-tip-reference" title="Jaeggi, E., Kind, C., Morger, R. &lt;strong&gt;Congenital scalp and skull defects with terminal transverse limb anomalies (Adams-Oliver syndrome): report of three additional cases.&lt;/strong&gt; Europ. J. Pediat. 149: 565-566, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2161342/&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;2161342&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01957693&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="2161342">Jaeggi et al. (1990)</a> reported an affected mother and child as well as a third sporadic case. Among the 31 reported patients with the full syndrome, major hemorrhage from the scalp defect occurred in 10, with 2 fatalities. Local infection was noted in 7 babies, with 1 case of fatal meningitis. Only 30% of the patients had surgical treatment of their scalp defects by skin grafting. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2161342" 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="Whitley, C. B., Gorlin, R. J. &lt;strong&gt;Adams-Oliver syndrome revisited.&lt;/strong&gt; Am. J. Med. Genet. 40: 319-326, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1951437/&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;1951437&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320400315&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="1951437">Whitley and Gorlin (1991)</a> found reports of 81 cases in 32 families with approximately equal distribution between males and females. The limb defects were usually asymmetric and ranged from hypoplastic nails to absence of a hand or foot. Vertical transmission in at least 8 families was consistent with autosomal dominant inheritance. Despite large defects of the cranium, the authors stated that central nervous system abnormalities had not been found in this disorder and intellectual development appeared to be normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1951437" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="David, A., Roze, J.-C., Melon-David, V. &lt;strong&gt;Adams-Oliver syndrome associated with congenital heart defect: not a coincidence. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 40: 126-127, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1887843/&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;1887843&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320400128&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="1887843">David et al. (1991)</a> reported congenital heart disease in association with the features of Adams-Oliver syndrome. This brought to 6 the number of cases of such an association. <a href="#16" class="mim-tip-reference" title="Ishikiriyama, S., Kaou, B., Udagawa, A., Niwa, K. &lt;strong&gt;Congenital heart defect in a Japanese girl with Adams-Oliver syndrome: one of the most important complications. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 43: 900-901, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1642283/&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;1642283&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430533&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="1642283">Ishikiriyama et al. (1992)</a> added to the description of the association and suggested that ventricular septal defect, including tetralogy of Fallot, may be the predominant type of congenital heart defect in the Adams-Oliver syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1642283+1887843" 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="Fryns, J. P., de Cock, P., van den Berghe, H. &lt;strong&gt;Occipital scalp defect associated with valvular pulmonary stenosis: a new entity?&lt;/strong&gt; Clin. Genet. 42: 97-99, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1424238/&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;1424238&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1992.tb03147.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="1424238">Fryns et al. (1992)</a> reported a 6-month-old, developmentally retarded male with a congenital scalp defect associated with a ventricular septal defect and valvular pulmonary stenosis. Hands and feet were relatively small with short distal phalanges and small nails of the fifth fingers. Brain CT scan showed marked cerebellar hypoplasia and vermis agenesis. They noted that <a href="#23" class="mim-tip-reference" title="Paltzik, R. L., Aiello, A. M. &lt;strong&gt;Aplasia cutis congenita associated with valvular heart disease.&lt;/strong&gt; Cutis 36: 57-58, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3839451/&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;3839451&lt;/a&gt;]" pmid="3839451">Paltzik and Aiello (1985)</a> had reported scalp defect in association with ventricular septal defect and pulmonary stenosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1424238+3839451" 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>On the basis of a sporadic case in a 10-year-old male, <a href="#5" class="mim-tip-reference" title="Chitayat, D., Meunier, C., Hodgkinson, K. A., Robb, L., Azouz, M. &lt;strong&gt;Acrania: a manifestation of the Adams-Oliver syndrome.&lt;/strong&gt; Am. J. Med. Genet. 44: 562-566, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1481809/&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;1481809&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320440506&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="1481809">Chitayat et al. (1992)</a> suggested that acrania is a severe form of aplasia cutis congenita and is within the spectrum of Adams-Oliver syndrome. In acrania, the flat bones of the cranial vault are absent, whereas the bones at the base of the skull are normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1481809" 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="Farrell, S. A., Warda, L. J., LaFlair, P., Szymonowicz, W. &lt;strong&gt;Adams-Oliver syndrome: a case with juvenile chronic myelogenous leukemia and chylothorax.&lt;/strong&gt; Am. J. Med. Genet. 47: 1175-1179, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8291551/&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;8291551&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320470809&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="8291551">Farrell et al. (1993)</a> described a sporadic case of AOS in a male infant. In addition to typical manifestations, he had atrial septal defect, chylothorax, and chronic juvenile myelogenous leukemia which was diagnosed at 9 months. Review of the literature (102 cases) showed that 78% of patients had defects of lower limbs and 59% had defects of upper limbs. To avoid ascertainment bias, <a href="#11" class="mim-tip-reference" title="Farrell, S. A., Warda, L. J., LaFlair, P., Szymonowicz, W. &lt;strong&gt;Adams-Oliver syndrome: a case with juvenile chronic myelogenous leukemia and chylothorax.&lt;/strong&gt; Am. J. Med. Genet. 47: 1175-1179, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8291551/&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;8291551&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320470809&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="8291551">Farrell et al. (1993)</a> excluded propositi for calculations of scalp and skull defects. After this exclusion, 56% of patients had scalp defects and 21% had skull defects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8291551" 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="#2" class="mim-tip-reference" title="Bamforth, J. S., Kaurah, P., Byrne, J., Ferreira, P. &lt;strong&gt;Adams Oliver syndrome: a family with extreme variability in clinical expression.&lt;/strong&gt; Am. J. Med. Genet. 49: 393-396, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8160731/&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;8160731&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320490408&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="8160731">Bamforth et al. (1994)</a> reported AOS in a mother and her 3 children with variable scalp defects and limb defects. Other anomalies included congenital heart disease, microcephaly, epilepsy, mental retardation, arhinencephaly, hydrocephaly, anatomic bronchial anomalies, and renal anomalies. The 3 children were by 2 different fathers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8160731" 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="#41" class="mim-tip-reference" title="Zapata, H. H., Sletten, L. J., Pierpont, M. E. M. &lt;strong&gt;Congenital cardiac malformations in Adams-Oliver syndrome.&lt;/strong&gt; Clin. Genet. 47: 80-84, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7606848/&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;7606848&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1995.tb03928.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="7606848">Zapata et al. (1995)</a> reported 2 patients with Adams-Oliver syndrome and congenital cardiac malformations. A literature review demonstrated that 13.4% of individuals with this syndrome have congenital heart anomalies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7606848" 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="#27" class="mim-tip-reference" title="Pousti, T. J., Bartlett, R. A. &lt;strong&gt;Adams-Oliver syndrome: genetics and associated anomalies of cutis aplasia.&lt;/strong&gt; Plast. Reconstr. Surg. 100: 1491-1496, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9385961/&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;9385961&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00006534-199711000-00018&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="9385961">Pousti and Bartlett (1997)</a> described cutis aplasia congenita in twin boys born to a mother with a history of cutis aplasia. One of the infants had associated distal limb anomalies and the other had cardiac anomalies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9385961" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Lin, A. E., Westgate, M.-N., van der Velde, M. E., Lacro, R. V., Holmes, L. B. &lt;strong&gt;Adams-Oliver syndrome associated with cardiovascular malformations.&lt;/strong&gt; Clin. Dysmorph. 7: 235-241, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9823488/&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;9823488&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00019605-199810000-00001&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="9823488">Lin et al. (1998)</a> reported a mother with scalp ACC but normal digits, who had heart sounds consistent with a bicuspid aortic valve. She had twin boys with AOS and heart anomalies: the cardiac findings were consistent with Shone complex in 1 twin and consisted of bicuspid aortic valve and patent ductus arteriosus in the other. <a href="#20" class="mim-tip-reference" title="Lin, A. E., Westgate, M.-N., van der Velde, M. E., Lacro, R. V., Holmes, L. B. &lt;strong&gt;Adams-Oliver syndrome associated with cardiovascular malformations.&lt;/strong&gt; Clin. Dysmorph. 7: 235-241, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9823488/&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;9823488&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00019605-199810000-00001&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="9823488">Lin et al. (1998)</a> reported a second family in which the proband was a 3.5-year-old girl with AOS and bicuspid aortic valve, whose father had AOS consisting of ACC and small distal fingertips and fingernails; her sister and paternal grandfather reportedly also had mild AOS features with ACC and digital hypoplasia. <a href="#20" class="mim-tip-reference" title="Lin, A. E., Westgate, M.-N., van der Velde, M. E., Lacro, R. V., Holmes, L. B. &lt;strong&gt;Adams-Oliver syndrome associated with cardiovascular malformations.&lt;/strong&gt; Clin. Dysmorph. 7: 235-241, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9823488/&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;9823488&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00019605-199810000-00001&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="9823488">Lin et al. (1998)</a> reviewed published cases of AOS and stated that approximately 20% have associated cardiovascular malformations, frequently involving obstructive lesions on the left side of the heart. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9823488" 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="Swartz, E. N., Sanatani, S., Sandor, G. G. S., Schreiber, R. A. &lt;strong&gt;Vascular abnormalities in Adams-Oliver syndrome: cause or effect?&lt;/strong&gt; Am. J. Med. Genet. 82: 49-52, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9916843/&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;9916843&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19990101)82:1&lt;49::aid-ajmg10&gt;3.0.co;2-m&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="9916843">Swartz et al. (1999)</a> reported a 4-year-old girl with AOS who also had double-outlet right ventricle, pulmonary hypertension, and portal hypertension resulting from hepatoportal sclerosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9916843" 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="Keymolen, K., De Smet, L., Bracke, P., Fryns, J. P. &lt;strong&gt;The concurrence of ring constrictions in Adams-Oliver syndrome: additional evidence for vascular disruption as common pathogenetic mechanism.&lt;/strong&gt; Genet. Counsel. 10: 295-300, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10546102/&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;10546102&lt;/a&gt;]" pmid="10546102">Keymolen et al. (1999)</a> reported a girl with congenital scalp and acral reduction limb defects, consistent with the diagnosis of Adams-Oliver syndrome, who also showed constriction rings, making the limb anomalies similar to those seen in the amniotic band disruption sequence (<a href="/entry/217100">217100</a>). The report was further evidence that the Adams-Oliver syndrome may be a vascular disruption sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10546102" 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="Savarirayan, R., Thompson, E. M., Abbott, K. J., Moore, M. H. &lt;strong&gt;Cerebral cortical dysplasia and digital constriction rings in Adams-Oliver syndrome.&lt;/strong&gt; Am. J. Med. Genet. 86: 15-19, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10440823/&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;10440823&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19990903)86:1&lt;15::aid-ajmg4&gt;3.0.co;2-i&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="10440823">Savarirayan et al. (1999)</a> described a boy with AOS whose sister was also mildly affected. Their mother had hypoplastic fifth toenails, thought to represent very mild expression of the syndrome. Computed tomography of the brain to investigate mild left hemiparesis in the boy demonstrated severe cortical dysplasia of central, occipital, and anterior regions of the right cerebral hemisphere. The boy and his sister had apparent constriction rings present on the toes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10440823" 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="Pereira-da-Silva, L., Leal, F., Santos, G. C., Amaral, J. M. V., Feijoo, M. J. &lt;strong&gt;Clinical evidence of vascular abnormalities at birth in Adams-Oliver syndrome: report of two further cases. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 94: 75-76, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10982487/&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;10982487&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/1096-8628(20000904)94:1&lt;75::aid-ajmg15&gt;3.0.co;2-3&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="10982487">Pereira-da-Silva et al. (2000)</a> described 2 patients with AOS, one of whom had necrotic lesions of the fingertips, generalized cutis marmorata telangiectatica, and localized ulceration of the abdominal skin, indicative of a vascular abnormality. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10982487" 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="#25" class="mim-tip-reference" title="Patel, M. S., Taylor, G. P., Bharya, S., Al-Sanna&#x27;a, N., Adatia, I., Chitayat, D., Lewis, M. E. S., Human, D. G. &lt;strong&gt;Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome.&lt;/strong&gt; Am. J. Med. Genet. 129A: 294-299, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15326631/&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;15326631&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30221&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="15326631">Patel et al. (2004)</a> described 2 children with AOS and additional features, including intrauterine growth retardation, CMTC, pulmonary hypertension, intracranial densities (shown in 1 patient to be sites of active bleeding), and osteopenia. <a href="#25" class="mim-tip-reference" title="Patel, M. S., Taylor, G. P., Bharya, S., Al-Sanna&#x27;a, N., Adatia, I., Chitayat, D., Lewis, M. E. S., Human, D. G. &lt;strong&gt;Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome.&lt;/strong&gt; Am. J. Med. Genet. 129A: 294-299, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15326631/&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;15326631&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30221&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="15326631">Patel et al. (2004)</a> concluded that the 2 patients they described, in addition to those reported by <a href="#38" class="mim-tip-reference" title="Toriello, H. V., Graff, R. G., Florentine, M. F., Lacina, S., Moore, W. D. &lt;strong&gt;Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome?&lt;/strong&gt; Am. J. Med. Genet. 29: 269-276, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3354598/&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;3354598&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320290204&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="3354598">Toriello et al. (1988)</a> and <a href="#35" class="mim-tip-reference" title="Swartz, E. N., Sanatani, S., Sandor, G. G. S., Schreiber, R. A. &lt;strong&gt;Vascular abnormalities in Adams-Oliver syndrome: cause or effect?&lt;/strong&gt; Am. J. Med. Genet. 82: 49-52, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9916843/&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;9916843&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19990101)82:1&lt;49::aid-ajmg10&gt;3.0.co;2-m&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="9916843">Swartz et al. (1999)</a>, established that a subset of AOS patients is at high risk for pulmonary hypertension. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9916843+15326631+3354598" 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="Maniscalco, M., Zedda, A., Faraone, S., de Laurentiis, G., Verde, R., Molese, V., Lapiccirella, G., Sofia, M. &lt;strong&gt;Association of Adams-Oliver syndrome with pulmonary arterio-venous malformation in the same family: a further support to the vascular hypothesis.&lt;/strong&gt; Am. J. Med. Genet. 136A: 269-274, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15948197/&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;15948197&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30828&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="15948197">Maniscalco et al. (2005)</a> reported a father and son with AOS and pulmonary arteriovenous malformations (PAVMs). Manifestations of AOS in this 3-generation family included scalp defect, digital hypoplasia and/or syndactyly, and cutis marmorata telangiectasia. The authors suggested that the occurrence of PAVM in AOS supported the hypothesis that endothelial-specific abnormalities could be the pathophysiologic mechanism for the development of AOS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15948197" 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="Rodrigues, R. G. &lt;strong&gt;Aplasia cutis congenita, congenital heart lesions, and frontonasal cysts in four successive generations.&lt;/strong&gt; Clin. Genet. 71: 558-560, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17539905/&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;17539905&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2007.00806.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="17539905">Rodrigues (2007)</a> reported a family in which 4 individuals spanning 4 generations had aplasia cutis congenita and congenital heart lesions. In addition, affected individuals had craniofacial abnormalities associated with frontonasal cysts. The proband presented at age 9 days with a midline frontal cyst between the eyebrows. She also had small C-shaped ears, prominent nasal bridge, and a V-shaped gingival notch. Other features included brachydactyly and ventricular septal defect. The proband's mother and grandmother had similar features and a maternal grandfather was reportedly affected. None of the affected members had neurologic or mental impairment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17539905" 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="Snape, K. M. G., Ruddy, D., Zenker, M., Wuyts, W., Whiteford, M., Johnson, D., Lam, W., Trembath, R. C. &lt;strong&gt;The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects.&lt;/strong&gt; Am. J. Med. Genet. 149A: 1860-1881, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19610107/&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;19610107&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32708&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="19610107">Snape et al. (2009)</a> described 3 cases of AOS and provided a detailed review of the available literature, with tabulation of the clinical features of all reported AOS dominant and recessive families as well as sporadic patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19610107" 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="Papadopoulou, E., Sifakis, S., Raissaki, M., Germanakis, I., Kalmanti, M. &lt;strong&gt;Antenatal and postnatal evidence of periventricular leukomalacia as a further indication of vascular disruption in Adams-Oliver syndrome.&lt;/strong&gt; Am. J. Med. Genet. 146A: 2545-2550, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18792979/&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;18792979&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32410&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="18792979">Papadopoulou et al. (2008)</a> reported a 14-month-old boy with aplasia cutis congenita, distal limb transverse defects, growth retardation, and a wide atrial septal defect. Central nervous system abnormalities included central hypotonia, small corpus callosum, and developmental delay. MRI showed periventricular leukomalacia and enlarged ventricles. Fetal MRI at 26 weeks' gestation had shown bilateral dilatation of lateral ventricles and periventricular cysts at the site of the postnatal lesions, as well as a hypoplastic corpus callosum. The patient's father and paternal grandfather also had aplasia cutis congenita without mental defect or other anomalies. The antenatal and postnatal MRI findings suggested to the authors that this patient's periventricular leukomalacia may represent an unusual congenital feature of AOS, possibly due to vascular disruption and decreased perfusion during critical periods of fetal brain development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18792979" 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>Citing previous studies that have shown the possible association between ACC of the scalp and various congenital heart defects, including patent ductus arteriosus (<a href="#7" class="mim-tip-reference" title="Deeken, J. H., Caplan, R. M. &lt;strong&gt;Aplasia cutis congenita.&lt;/strong&gt; Arch. Derm. 102: 386-389, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5536130/&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;5536130&lt;/a&gt;]" pmid="5536130">Deeken and Caplan, 1970</a>) and ventricular septal defect (<a href="#10" class="mim-tip-reference" title="Dubosson, J.-D., Schneider, P. &lt;strong&gt;Manifestation familiale d&#x27;une aplasie cutanee circonscrite du vertex (ACCV), associee dans un cas a une malformation cardiaque.&lt;/strong&gt; J. Genet. Hum. 26: 351-365, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/752066/&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;752066&lt;/a&gt;]" pmid="752066">Dubosson and Schneider, 1978</a>), and noting that such congenital heart defects occur in approximately 20% of AOS patients (<a href="#20" class="mim-tip-reference" title="Lin, A. E., Westgate, M.-N., van der Velde, M. E., Lacro, R. V., Holmes, L. B. &lt;strong&gt;Adams-Oliver syndrome associated with cardiovascular malformations.&lt;/strong&gt; Clin. Dysmorph. 7: 235-241, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9823488/&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;9823488&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00019605-199810000-00001&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="9823488">Lin et al., 1998</a>), <a href="#9" class="mim-tip-reference" title="Digilio, M. C., Marino, B., Dallapiccola, B. &lt;strong&gt;Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: a possible link to the Adams-Oliver syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 146A: 2842-2844, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18924173/&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;18924173&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32526&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="18924173">Digilio et al. (2008)</a> proposed that variability in clinical expression of AOS might include the association of congenital heart defect and ACC without limb defects. <a href="#9" class="mim-tip-reference" title="Digilio, M. C., Marino, B., Dallapiccola, B. &lt;strong&gt;Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: a possible link to the Adams-Oliver syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 146A: 2842-2844, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18924173/&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;18924173&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32526&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="18924173">Digilio et al. (2008)</a> pointed to families in which some members exhibit classic AOS and other members have only ACC and congenital heart defect (<a href="#29" class="mim-tip-reference" title="Santos, H., Cordeiro, I., Menezes, I. &lt;strong&gt;Aplasia cutis congenita associated with congenital heart defect, not a coincidence? (Letter)&lt;/strong&gt; Am. J. Med. Genet. 34: 614-615, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2519562/&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;2519562&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320340437&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="2519562">Santos et al., 1989</a>; <a href="#20" class="mim-tip-reference" title="Lin, A. E., Westgate, M.-N., van der Velde, M. E., Lacro, R. V., Holmes, L. B. &lt;strong&gt;Adams-Oliver syndrome associated with cardiovascular malformations.&lt;/strong&gt; Clin. Dysmorph. 7: 235-241, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9823488/&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;9823488&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00019605-199810000-00001&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="9823488">Lin et al., 1998</a>) to substantiate their hypothesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5536130+18924173+9823488+752066+2519562" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Reviews</em></strong></p><p>
<a href="#36" class="mim-tip-reference" title="Sybert, V. P. &lt;strong&gt;Aplasia cutis congenita: a report of 12 new families and review of the literature.&lt;/strong&gt; Pediat. Derm. 3: 1-14, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3906608/&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;3906608&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1525-1470.1985.tb00478.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="3906608">Sybert (1985)</a> and <a href="#12" class="mim-tip-reference" title="Frieden, I. &lt;strong&gt;Aplasia cutis congenita: a clinical review and proposal for classification.&lt;/strong&gt; J. Am. Acad. Derm. 14: 646-660, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3514708/&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;3514708&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0190-9622(86)70082-0&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="3514708">Frieden (1986)</a> provided reviews. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3906608+3514708" 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="populationGenetics" class="mim-anchor"></a>
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<p><a href="#34" class="mim-tip-reference" title="Stittrich, A.-B., Lehman, A., Bodian, D. L., Ashworth, J., Zong, Z., Li, H., Lam, P., Khromykh, A., Iyer, R. K., Vockley, J. G., Baveja, R., Silva, E. S., Dixon, J., Leon, E. L., Solomon, B. D., Glusman, G., Niederhuber, J. E., Roach, J. C., Patel, M. S. &lt;strong&gt;Mutations in NOTCH1 cause Adams-Oliver syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 95: 275-284, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25132448/&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;25132448&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=25132448[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2014.07.011&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="25132448">Stittrich et al. (2014)</a> stated that the incidence of AOS is approximately 1 in 225,000 individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25132448" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="inheritance" class="mim-anchor"></a>
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<p><a href="#3" class="mim-tip-reference" title="Bonafede, R. P., Beighton, P. &lt;strong&gt;Autosomal dominant inheritance of scalp defects with ectrodactyly.&lt;/strong&gt; Am. J. Med. Genet. 3: 35-41, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/474617/&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;474617&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320030109&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="474617">Bonafede and Beighton (1979)</a> reported a family in which 9 members spanning 4 generations had congenital scalp defects associated with abnormalities of the hands and feet. Circumscribed defects of the skull were an inconsistent finding. Inheritance was clearly autosomal dominant, with one instance of male-to-male transmission. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=474617" 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="Sybert, V. P. &lt;strong&gt;Congenital scalp defects with distal limb anomalies (Adams-Oliver Syndrome--McKusick 10030): further suggestion of autosomal recessive inheritance. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 32: 266-267, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2929669/&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;2929669&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320320230&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="2929669">Sybert (1989)</a> concluded that ACC in association with limb defects is most often inherited in an autosomal dominant pattern. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2929669" 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="pathogenesis" class="mim-anchor"></a>
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<p><a href="#38" class="mim-tip-reference" title="Toriello, H. V., Graff, R. G., Florentine, M. F., Lacina, S., Moore, W. D. &lt;strong&gt;Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome?&lt;/strong&gt; Am. J. Med. Genet. 29: 269-276, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3354598/&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;3354598&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320290204&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="3354598">Toriello et al. (1988)</a> suggested that the vascular changes in the skin may indicate that features of Adams-Oliver syndrome result from vascular disruption sequences. <a href="#17" class="mim-tip-reference" title="Jaeggi, E., Kind, C., Morger, R. &lt;strong&gt;Congenital scalp and skull defects with terminal transverse limb anomalies (Adams-Oliver syndrome): report of three additional cases.&lt;/strong&gt; Europ. J. Pediat. 149: 565-566, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2161342/&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;2161342&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01957693&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="2161342">Jaeggi et al. (1990)</a> also noted that cutis marmorata and dilated scalp veins in AOS suggested a probable vascular disruptive pathogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2161342+3354598" 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="#8" class="mim-tip-reference" title="Der Kaloustian, V. M., Hoyme, H. E., Hogg, H., Entin, M. A., Guttmacher, A. E. &lt;strong&gt;Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome.&lt;/strong&gt; Am. J. Med. Genet. 38: 69-73, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2012136/&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;2012136&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320380116&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="2012136">Der Kaloustian et al. (1991)</a> described 2 families having members affected with the Poland anomalad (<a href="/entry/173800">173800</a>) and AOS. They hypothesized that the Poland anomalad and AOS result from the interruption of early embryonic blood supply in the subclavian arteries, and that the gene predisposing to this interruption follows an autosomal dominant pattern of inheritance. <a href="#15" class="mim-tip-reference" title="Hoyme, H. E., Entin, M. A., Der Kaloustian, V. M., Hogg, H., Guttmacher, A. E. &lt;strong&gt;Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome: an additional clinical observation. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 42: 398-399, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1536190/&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;1536190&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320420334&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="1536190">Hoyme et al. (1992)</a> reported that 2 additional individuals in family 2 of <a href="#8" class="mim-tip-reference" title="Der Kaloustian, V. M., Hoyme, H. E., Hogg, H., Entin, M. A., Guttmacher, A. E. &lt;strong&gt;Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome.&lt;/strong&gt; Am. J. Med. Genet. 38: 69-73, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2012136/&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;2012136&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320380116&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="2012136">Der Kaloustian et al. (1991)</a> had the Poland sequence with no findings of Adams-Oliver syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2012136+1536190" 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="Swartz, E. N., Sanatani, S., Sandor, G. G. S., Schreiber, R. A. &lt;strong&gt;Vascular abnormalities in Adams-Oliver syndrome: cause or effect?&lt;/strong&gt; Am. J. Med. Genet. 82: 49-52, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9916843/&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;9916843&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19990101)82:1&lt;49::aid-ajmg10&gt;3.0.co;2-m&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="9916843">Swartz et al. (1999)</a> suggested that AOS should be considered not merely a syndrome consisting of aplasia cutis congenita and terminal transverse limb defects, but rather a constellation of clinical findings resulting from an early embryonic vascular abnormality. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9916843" 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>Postmortem examination of an AOS patient with pulmonary hypertension reported by <a href="#25" class="mim-tip-reference" title="Patel, M. S., Taylor, G. P., Bharya, S., Al-Sanna&#x27;a, N., Adatia, I., Chitayat, D., Lewis, M. E. S., Human, D. G. &lt;strong&gt;Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome.&lt;/strong&gt; Am. J. Med. Genet. 129A: 294-299, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15326631/&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;15326631&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30221&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="15326631">Patel et al. (2004)</a> showed defective vascular smooth muscle cell/pericyte coverage of the vasculature associated with 2 blood vessel abnormalities. Pericyte absence correlated with vessel dilatation whereas hyperproliferation of pericytes correlated with vessel stenosis. These findings suggested a unifying pathogenic mechanism for the abnormalities seen in AOS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15326631" 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="#39" class="mim-tip-reference" title="Verdyck, P., Blaumeiser, B., Holder-Espinasse, M., Van Hul, W., Wuyts, W. &lt;strong&gt;Adams-Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes.&lt;/strong&gt; Clin. Genet. 69: 86-92, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16451141/&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;16451141&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2006.00552.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="16451141">Verdyck et al. (2006)</a> reported a Belgian family in which 10 individuals over 4 generations had Adams-Oliver syndrome, 6 of whom were available for study. Clinical symptoms were variable, as reported in other families, and included large areas of alopecia on the vertex of the skull and serious limb reduction defects with agenesis of all toes of 1 foot. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16451141" 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="#33" class="mim-tip-reference" title="Southgate, L., Machado, R. D., Snape, K. M., Primeau, M., Dafou, D., Ruddy, D. M., Branney, P. A., Fisher, M., Lee, G. J., Simpson, M. A., He, Y., Bradshaw, T. Y., and 9 others. &lt;strong&gt;Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.&lt;/strong&gt; Am. J. Hum. Genet. 88: 574-585, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21565291/&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;21565291&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21565291[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2011.04.013&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="21565291">Southgate et al. (2011)</a> performed a genomewide screen in 22 members of 2 multigenerational families segregating autosomal dominant Adams-Oliver syndrome, originally reported by <a href="#3" class="mim-tip-reference" title="Bonafede, R. P., Beighton, P. &lt;strong&gt;Autosomal dominant inheritance of scalp defects with ectrodactyly.&lt;/strong&gt; Am. J. Med. Genet. 3: 35-41, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/474617/&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;474617&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320030109&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="474617">Bonafede and Beighton (1979)</a> and <a href="#39" class="mim-tip-reference" title="Verdyck, P., Blaumeiser, B., Holder-Espinasse, M., Van Hul, W., Wuyts, W. &lt;strong&gt;Adams-Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes.&lt;/strong&gt; Clin. Genet. 69: 86-92, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16451141/&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;16451141&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2006.00552.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="16451141">Verdyck et al. (2006)</a>, respectively, and identified a locus for the disease on chromosome 3q13.31-q13.33. Fine mapping defined a 5.53-Mb critical interval flanked by markers <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs714697;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs714697</a> and D3S4523. A maximum multipoint lod score of 4.93 was obtained at marker <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1464311;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1464311</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=474617+21565291+16451141" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 families with congenital scalp defects and distal limb reduction anomalies mapping to chromosome 3q13, originally reported by <a href="#3" class="mim-tip-reference" title="Bonafede, R. P., Beighton, P. &lt;strong&gt;Autosomal dominant inheritance of scalp defects with ectrodactyly.&lt;/strong&gt; Am. J. Med. Genet. 3: 35-41, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/474617/&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;474617&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320030109&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="474617">Bonafede and Beighton (1979)</a> and <a href="#39" class="mim-tip-reference" title="Verdyck, P., Blaumeiser, B., Holder-Espinasse, M., Van Hul, W., Wuyts, W. &lt;strong&gt;Adams-Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes.&lt;/strong&gt; Clin. Genet. 69: 86-92, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16451141/&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;16451141&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2006.00552.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="16451141">Verdyck et al. (2006)</a>, respectively, <a href="#33" class="mim-tip-reference" title="Southgate, L., Machado, R. D., Snape, K. M., Primeau, M., Dafou, D., Ruddy, D. M., Branney, P. A., Fisher, M., Lee, G. J., Simpson, M. A., He, Y., Bradshaw, T. Y., and 9 others. &lt;strong&gt;Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.&lt;/strong&gt; Am. J. Hum. Genet. 88: 574-585, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21565291/&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;21565291&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21565291[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2011.04.013&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="21565291">Southgate et al. (2011)</a> sequenced 4 candidate genes and identified heterozygosity for 2 different truncating mutations in the ARHGAP31 gene (<a href="/entry/610911#0001">610911.0001</a> and <a href="/entry/610911#0002">610911.0002</a>, respectively) that segregated with disease in each family. Sequencing of ARHGAP31 in 3 additional multiplex AOS kindreds as well as 43 sporadic patients with features of aplasia cutis congenita and/or terminal transverse limb defects revealed no mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=474617+16451141+21565291" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Burton1976" class="mim-tip-reference" title="Burton, B. K., Hauser, L., Nadler, H. L. &lt;strong&gt;Congenital scalp defects with distal limb anomalies: report of a family.&lt;/strong&gt; J. Med. Genet. 13: 466-468, 1976.">Burton et al. (1976)</a>; <a href="#Fryns1987" class="mim-tip-reference" title="Fryns, J. P. &lt;strong&gt;Congenital scalp defects with distal limb reduction anomalies.&lt;/strong&gt; J. Med. Genet. 24: 493-496, 1987.">Fryns (1987)</a>; <a href="#McMurray1977" class="mim-tip-reference" title="McMurray, B. R., Martin, L. W., Dignan, P. S. J., Fogelson, M. H. &lt;strong&gt;Hereditary aplasia cutis congenita and associated defects: three instances in one family and a survey of reported cases.&lt;/strong&gt; Clin. Pediat. 16: 610-614, 1977.">McMurray et al. (1977)</a>
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<a id="Adams1945" class="mim-anchor"></a>
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Adams, F. H., Oliver, C. P.
<strong>Hereditary deformities in man due to arrested development.</strong>
J. Hered. 36: 3-7, 1945.
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</div>
</li>
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<a id="Bamforth1994" class="mim-anchor"></a>
<div class="">
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Bamforth, J. S., Kaurah, P., Byrne, J., Ferreira, P.
<strong>Adams Oliver syndrome: a family with extreme variability in clinical expression.</strong>
Am. J. Med. Genet. 49: 393-396, 1994.
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[<a href="https://doi.org/10.1002/ajmg.1320490408" target="_blank">Full Text</a>]
</p>
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<a id="3" class="mim-anchor"></a>
<a id="Bonafede1979" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bonafede, R. P., Beighton, P.
<strong>Autosomal dominant inheritance of scalp defects with ectrodactyly.</strong>
Am. J. Med. Genet. 3: 35-41, 1979.
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[<a href="https://doi.org/10.1002/ajmg.1320030109" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
<a id="Burton1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Burton, B. K., Hauser, L., Nadler, H. L.
<strong>Congenital scalp defects with distal limb anomalies: report of a family.</strong>
J. Med. Genet. 13: 466-468, 1976.
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[<a href="https://doi.org/10.1136/jmg.13.6.466" target="_blank">Full Text</a>]
</p>
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<a id="5" class="mim-anchor"></a>
<a id="Chitayat1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chitayat, D., Meunier, C., Hodgkinson, K. A., Robb, L., Azouz, M.
<strong>Acrania: a manifestation of the Adams-Oliver syndrome.</strong>
Am. J. Med. Genet. 44: 562-566, 1992.
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[<a href="https://doi.org/10.1002/ajmg.1320440506" target="_blank">Full Text</a>]
</p>
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<a id="6" class="mim-anchor"></a>
<a id="David1991" class="mim-anchor"></a>
<div class="">
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David, A., Roze, J.-C., Melon-David, V.
<strong>Adams-Oliver syndrome associated with congenital heart defect: not a coincidence. (Letter)</strong>
Am. J. Med. Genet. 40: 126-127, 1991.
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[<a href="https://doi.org/10.1002/ajmg.1320400128" target="_blank">Full Text</a>]
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<a id="Deeken1970" class="mim-anchor"></a>
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Deeken, J. H., Caplan, R. M.
<strong>Aplasia cutis congenita.</strong>
Arch. Derm. 102: 386-389, 1970.
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<a id="8" class="mim-anchor"></a>
<a id="Der Kaloustian1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Der Kaloustian, V. M., Hoyme, H. E., Hogg, H., Entin, M. A., Guttmacher, A. E.
<strong>Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome.</strong>
Am. J. Med. Genet. 38: 69-73, 1991.
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[<a href="https://doi.org/10.1002/ajmg.1320380116" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
<a id="Digilio2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Digilio, M. C., Marino, B., Dallapiccola, B.
<strong>Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: a possible link to the Adams-Oliver syndrome. (Letter)</strong>
Am. J. Med. Genet. 146A: 2842-2844, 2008.
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[<a href="https://doi.org/10.1002/ajmg.a.32526" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
<a id="Dubosson1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dubosson, J.-D., Schneider, P.
<strong>Manifestation familiale d'une aplasie cutanee circonscrite du vertex (ACCV), associee dans un cas a une malformation cardiaque.</strong>
J. Genet. Hum. 26: 351-365, 1978.
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<a id="11" class="mim-anchor"></a>
<a id="Farrell1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Farrell, S. A., Warda, L. J., LaFlair, P., Szymonowicz, W.
<strong>Adams-Oliver syndrome: a case with juvenile chronic myelogenous leukemia and chylothorax.</strong>
Am. J. Med. Genet. 47: 1175-1179, 1993.
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[<a href="https://doi.org/10.1002/ajmg.1320470809" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
<a id="Frieden1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Frieden, I.
<strong>Aplasia cutis congenita: a clinical review and proposal for classification.</strong>
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[<a href="https://doi.org/10.1016/s0190-9622(86)70082-0" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
<a id="Fryns1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fryns, J. P., de Cock, P., van den Berghe, H.
<strong>Occipital scalp defect associated with valvular pulmonary stenosis: a new entity?</strong>
Clin. Genet. 42: 97-99, 1992.
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[<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03147.x" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
<a id="Fryns1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fryns, J. P.
<strong>Congenital scalp defects with distal limb reduction anomalies.</strong>
J. Med. Genet. 24: 493-496, 1987.
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[<a href="https://doi.org/10.1136/jmg.24.8.493" target="_blank">Full Text</a>]
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<a id="15" class="mim-anchor"></a>
<a id="Hoyme1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hoyme, H. E., Entin, M. A., Der Kaloustian, V. M., Hogg, H., Guttmacher, A. E.
<strong>Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome: an additional clinical observation. (Letter)</strong>
Am. J. Med. Genet. 42: 398-399, 1992.
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[<a href="https://doi.org/10.1002/ajmg.1320420334" target="_blank">Full Text</a>]
</p>
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<a id="16" class="mim-anchor"></a>
<a id="Ishikiriyama1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ishikiriyama, S., Kaou, B., Udagawa, A., Niwa, K.
<strong>Congenital heart defect in a Japanese girl with Adams-Oliver syndrome: one of the most important complications. (Letter)</strong>
Am. J. Med. Genet. 43: 900-901, 1992.
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[<a href="https://doi.org/10.1002/ajmg.1320430533" target="_blank">Full Text</a>]
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<a id="17" class="mim-anchor"></a>
<a id="Jaeggi1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Jaeggi, E., Kind, C., Morger, R.
<strong>Congenital scalp and skull defects with terminal transverse limb anomalies (Adams-Oliver syndrome): report of three additional cases.</strong>
Europ. J. Pediat. 149: 565-566, 1990.
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[<a href="https://doi.org/10.1007/BF01957693" target="_blank">Full Text</a>]
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<a id="Keymolen1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Keymolen, K., De Smet, L., Bracke, P., Fryns, J. P.
<strong>The concurrence of ring constrictions in Adams-Oliver syndrome: additional evidence for vascular disruption as common pathogenetic mechanism.</strong>
Genet. Counsel. 10: 295-300, 1999.
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<a id="Kuster1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kuster, W., Lenz, W., Kaariainen, H., Majewski, F.
<strong>Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): report of ten cases and review of the literature.</strong>
Am. J. Med. Genet. 31: 99-115, 1988.
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[<a href="https://doi.org/10.1002/ajmg.1320310112" target="_blank">Full Text</a>]
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<a id="Lin1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lin, A. E., Westgate, M.-N., van der Velde, M. E., Lacro, R. V., Holmes, L. B.
<strong>Adams-Oliver syndrome associated with cardiovascular malformations.</strong>
Clin. Dysmorph. 7: 235-241, 1998.
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[<a href="https://doi.org/10.1097/00019605-199810000-00001" target="_blank">Full Text</a>]
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<a id="Maniscalco2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Maniscalco, M., Zedda, A., Faraone, S., de Laurentiis, G., Verde, R., Molese, V., Lapiccirella, G., Sofia, M.
<strong>Association of Adams-Oliver syndrome with pulmonary arterio-venous malformation in the same family: a further support to the vascular hypothesis.</strong>
Am. J. Med. Genet. 136A: 269-274, 2005.
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[<a href="https://doi.org/10.1002/ajmg.a.30828" target="_blank">Full Text</a>]
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<a id="McMurray1977" class="mim-anchor"></a>
<div class="">
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McMurray, B. R., Martin, L. W., Dignan, P. S. J., Fogelson, M. H.
<strong>Hereditary aplasia cutis congenita and associated defects: three instances in one family and a survey of reported cases.</strong>
Clin. Pediat. 16: 610-614, 1977.
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[<a href="https://doi.org/10.1177/000992287701600705" target="_blank">Full Text</a>]
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<a id="Paltzik1985" class="mim-anchor"></a>
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Paltzik, R. L., Aiello, A. M.
<strong>Aplasia cutis congenita associated with valvular heart disease.</strong>
Cutis 36: 57-58, 1985.
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<a id="Papadopoulou2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Papadopoulou, E., Sifakis, S., Raissaki, M., Germanakis, I., Kalmanti, M.
<strong>Antenatal and postnatal evidence of periventricular leukomalacia as a further indication of vascular disruption in Adams-Oliver syndrome.</strong>
Am. J. Med. Genet. 146A: 2545-2550, 2008.
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[<a href="https://doi.org/10.1002/ajmg.a.32410" target="_blank">Full Text</a>]
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<a id="25" class="mim-anchor"></a>
<a id="Patel2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Patel, M. S., Taylor, G. P., Bharya, S., Al-Sanna'a, N., Adatia, I., Chitayat, D., Lewis, M. E. S., Human, D. G.
<strong>Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome.</strong>
Am. J. Med. Genet. 129A: 294-299, 2004.
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[<a href="https://doi.org/10.1002/ajmg.a.30221" target="_blank">Full Text</a>]
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<li>
<a id="26" class="mim-anchor"></a>
<a id="Pereira-da-Silva2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pereira-da-Silva, L., Leal, F., Santos, G. C., Amaral, J. M. V., Feijoo, M. J.
<strong>Clinical evidence of vascular abnormalities at birth in Adams-Oliver syndrome: report of two further cases. (Letter)</strong>
Am. J. Med. Genet. 94: 75-76, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10982487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10982487</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10982487" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/1096-8628(20000904)94:1&lt;75::aid-ajmg15&gt;3.0.co;2-3" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="27" class="mim-anchor"></a>
<a id="Pousti1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pousti, T. J., Bartlett, R. A.
<strong>Adams-Oliver syndrome: genetics and associated anomalies of cutis aplasia.</strong>
Plast. Reconstr. Surg. 100: 1491-1496, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9385961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9385961</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9385961" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1097/00006534-199711000-00018" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="28" class="mim-anchor"></a>
<a id="Rodrigues2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Rodrigues, R. G.
<strong>Aplasia cutis congenita, congenital heart lesions, and frontonasal cysts in four successive generations.</strong>
Clin. Genet. 71: 558-560, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17539905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17539905</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17539905" 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.1399-0004.2007.00806.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="29" class="mim-anchor"></a>
<a id="Santos1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Santos, H., Cordeiro, I., Menezes, I.
<strong>Aplasia cutis congenita associated with congenital heart defect, not a coincidence? (Letter)</strong>
Am. J. Med. Genet. 34: 614-615, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2519562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2519562</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2519562" 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.1320340437" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="30" class="mim-anchor"></a>
<a id="Savarirayan1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Savarirayan, R., Thompson, E. M., Abbott, K. J., Moore, M. H.
<strong>Cerebral cortical dysplasia and digital constriction rings in Adams-Oliver syndrome.</strong>
Am. J. Med. Genet. 86: 15-19, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10440823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10440823</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10440823" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1096-8628(19990903)86:1&lt;15::aid-ajmg4&gt;3.0.co;2-i" target="_blank">Full Text</a>]
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<a id="31" class="mim-anchor"></a>
<a id="Scribanu1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Scribanu, N., Temtamy, S. A.
<strong>Syndrome of aplasia cutis congenita with terminal transverse defects of limbs.</strong>
J. Pediat. 87: 79-82, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1173820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1173820</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1173820" 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/s0022-3476(75)80074-6" target="_blank">Full Text</a>]
</p>
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<a id="32" class="mim-anchor"></a>
<a id="Snape2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Snape, K. M. G., Ruddy, D., Zenker, M., Wuyts, W., Whiteford, M., Johnson, D., Lam, W., Trembath, R. C.
<strong>The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects.</strong>
Am. J. Med. Genet. 149A: 1860-1881, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19610107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19610107</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19610107" 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.a.32708" target="_blank">Full Text</a>]
</p>
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<a id="33" class="mim-anchor"></a>
<a id="Southgate2011" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Southgate, L., Machado, R. D., Snape, K. M., Primeau, M., Dafou, D., Ruddy, D. M., Branney, P. A., Fisher, M., Lee, G. J., Simpson, M. A., He, Y., Bradshaw, T. Y., and 9 others.
<strong>Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.</strong>
Am. J. Hum. Genet. 88: 574-585, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21565291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21565291</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21565291[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21565291" 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/j.ajhg.2011.04.013" target="_blank">Full Text</a>]
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<a id="34" class="mim-anchor"></a>
<a id="Stittrich2014" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Stittrich, A.-B., Lehman, A., Bodian, D. L., Ashworth, J., Zong, Z., Li, H., Lam, P., Khromykh, A., Iyer, R. K., Vockley, J. G., Baveja, R., Silva, E. S., Dixon, J., Leon, E. L., Solomon, B. D., Glusman, G., Niederhuber, J. E., Roach, J. C., Patel, M. S.
<strong>Mutations in NOTCH1 cause Adams-Oliver syndrome.</strong>
Am. J. Hum. Genet. 95: 275-284, 2014.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25132448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25132448</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25132448[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25132448" 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/j.ajhg.2014.07.011" target="_blank">Full Text</a>]
</p>
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<a id="35" class="mim-anchor"></a>
<a id="Swartz1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Swartz, E. N., Sanatani, S., Sandor, G. G. S., Schreiber, R. A.
<strong>Vascular abnormalities in Adams-Oliver syndrome: cause or effect?</strong>
Am. J. Med. Genet. 82: 49-52, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9916843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9916843</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9916843" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1096-8628(19990101)82:1&lt;49::aid-ajmg10&gt;3.0.co;2-m" target="_blank">Full Text</a>]
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<a id="36" class="mim-anchor"></a>
<a id="Sybert1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sybert, V. P.
<strong>Aplasia cutis congenita: a report of 12 new families and review of the literature.</strong>
Pediat. Derm. 3: 1-14, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3906608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3906608</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3906608" 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.1525-1470.1985.tb00478.x" target="_blank">Full Text</a>]
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<a id="37" class="mim-anchor"></a>
<a id="Sybert1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sybert, V. P.
<strong>Congenital scalp defects with distal limb anomalies (Adams-Oliver Syndrome--McKusick 10030): further suggestion of autosomal recessive inheritance. (Letter)</strong>
Am. J. Med. Genet. 32: 266-267, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2929669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2929669</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2929669" 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.1320320230" target="_blank">Full Text</a>]
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<a id="38" class="mim-anchor"></a>
<a id="Toriello1988" class="mim-anchor"></a>
<div class="">
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Toriello, H. V., Graff, R. G., Florentine, M. F., Lacina, S., Moore, W. D.
<strong>Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome?</strong>
Am. J. Med. Genet. 29: 269-276, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3354598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3354598</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3354598" 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.1320290204" target="_blank">Full Text</a>]
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<a id="39" class="mim-anchor"></a>
<a id="Verdyck2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Verdyck, P., Blaumeiser, B., Holder-Espinasse, M., Van Hul, W., Wuyts, W.
<strong>Adams-Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes.</strong>
Clin. Genet. 69: 86-92, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16451141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16451141</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16451141" 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.1399-0004.2006.00552.x" target="_blank">Full Text</a>]
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<a id="40" class="mim-anchor"></a>
<a id="Whitley1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Whitley, C. B., Gorlin, R. J.
<strong>Adams-Oliver syndrome revisited.</strong>
Am. J. Med. Genet. 40: 319-326, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1951437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1951437</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1951437" 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.1320400315" target="_blank">Full Text</a>]
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<a id="41" class="mim-anchor"></a>
<a id="Zapata1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zapata, H. H., Sletten, L. J., Pierpont, M. E. M.
<strong>Congenital cardiac malformations in Adams-Oliver syndrome.</strong>
Clin. Genet. 47: 80-84, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7606848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7606848</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7606848" 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.1399-0004.1995.tb03928.x" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Marla J. F. O'Neill - updated : 10/6/2015
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Marla J. F. O'Neill - updated : 9/24/2014<br>Marla J. F. O'Neill - updated : 7/2/2013<br>Marla J. F. O'Neill - updated : 9/7/2012<br>Marla J. F. O'Neill - updated : 9/9/2011<br>Marla J. F. O'Neill - updated : 5/26/2011<br>Cassandra L. Kniffin - updated : 10/1/2010<br>Marla J. F. O'Neill - updated : 8/31/2009<br>Cassandra L. Kniffin - updated : 4/20/2009<br>Cassandra L. Kniffin - updated : 2/13/2009<br>Cassandra L. Kniffin - updated : 2/25/2008<br>Cassandra L. Kniffin - reorganized : 7/16/2007<br>Cassandra L. Kniffin - updated : 7/12/2007<br>Victor A. McKusick - updated : 3/7/2006<br>Cassandra L. Kniffin - updated : 10/12/2005<br>Victor A. McKusick - updated : 9/21/2005<br>Victor A. McKusick - updated : 9/22/2004<br>Victor A. McKusick - updated : 9/18/2000<br>Victor A. McKusick - updated : 1/14/2000<br>Victor A. McKusick - updated : 9/1/1999<br>Victor A. McKusick - updated : 1/12/1999<br>Victor A. McKusick - updated : 12/21/1998<br>Victor A. McKusick - updated : 2/26/1998<br>Iosif W. Lurie - updated : 8/12/1996
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Creation Date:
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Victor A. McKusick : 6/4/1986
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joanna : 04/07/2022
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carol : 11/21/2017<br>joanna : 06/23/2016<br>carol : 3/16/2016<br>carol : 1/30/2016<br>carol : 10/6/2015<br>carol : 9/25/2014<br>carol : 9/25/2014<br>mcolton : 9/24/2014<br>carol : 11/8/2013<br>carol : 7/2/2013<br>carol : 9/10/2012<br>terry : 9/7/2012<br>carol : 10/14/2011<br>carol : 9/9/2011<br>wwang : 6/10/2011<br>carol : 5/26/2011<br>terry : 5/26/2011<br>wwang : 10/7/2010<br>ckniffin : 10/1/2010<br>wwang : 9/28/2010<br>carol : 9/2/2009<br>terry : 8/31/2009<br>wwang : 5/7/2009<br>ckniffin : 4/20/2009<br>wwang : 4/16/2009<br>ckniffin : 2/13/2009<br>carol : 9/19/2008<br>wwang : 3/13/2008<br>ckniffin : 2/25/2008<br>carol : 7/16/2007<br>ckniffin : 7/12/2007<br>alopez : 3/14/2006<br>terry : 3/7/2006<br>wwang : 10/25/2005<br>wwang : 10/21/2005<br>ckniffin : 10/12/2005<br>wwang : 10/11/2005<br>terry : 9/21/2005<br>tkritzer : 9/24/2004<br>terry : 9/22/2004<br>mgross : 3/17/2004<br>carol : 9/18/2000<br>mcapotos : 2/1/2000<br>mcapotos : 1/31/2000<br>terry : 1/14/2000<br>terry : 11/24/1999<br>jlewis : 9/23/1999<br>terry : 9/1/1999<br>terry : 4/29/1999<br>carol : 1/19/1999<br>terry : 1/12/1999<br>carol : 12/30/1998<br>terry : 12/21/1998<br>mark : 2/26/1998<br>terry : 2/26/1998<br>carol : 6/3/1997<br>carol : 8/12/1996<br>mark : 6/8/1995<br>mimadm : 3/11/1994<br>carol : 3/7/1994<br>carol : 12/18/1992<br>supermim : 3/16/1992<br>carol : 2/27/1992
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<h3>
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<strong>#</strong> 100300
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<h3>
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ADAMS-OLIVER SYNDROME 1; AOS1
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<em>Alternative titles; symbols</em>
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<h4>
<span class="mim-font">
AOS<br />
ABSENCE DEFECT OF LIMBS, SCALP, AND SKULL<br />
CONGENITAL SCALP DEFECTS WITH DISTAL LIMB REDUCTION ANOMALIES<br />
APLASIA CUTIS CONGENITA WITH TERMINAL TRANSVERSE LIMB DEFECTS
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<p>
<span class="mim-font">
Other entities represented in this entry:
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<span class="h3 mim-font">
APLASIA CUTIS CONGENITA, CONGENITAL HEART DEFECT, AND FRONTONASAL CYSTS, INCLUDED
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<span class="mim-text-font">
<strong>ORPHA:</strong> 974; &nbsp;
<strong>DO:</strong> 0060227; &nbsp;
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<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<th>
Location
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Phenotype
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Phenotype <br /> MIM number
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<th>
Inheritance
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<th>
Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<td>
<span class="mim-font">
3q13.32-q13.33
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<span class="mim-font">
Adams-Oliver syndrome 1
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<span class="mim-font">
100300
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<span class="mim-font">
Autosomal dominant
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<span class="mim-font">
3
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<span class="mim-font">
ARHGAP31
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<span class="mim-font">
610911
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<h4>
<span class="mim-font">
<strong>TEXT</strong>
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<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that Adams-Oliver syndrome-1 (AOS1) is caused by heterozygous mutation in the ARHGAP31 gene (610911) on chromosome 3q13.</p>
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<h4>
<span class="mim-font">
<strong>Description</strong>
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<span class="mim-text-font">
<p>Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014). </p><p><strong><em>Genetic Heterogeneity of Adams-Oliver Syndrome</em></strong></p><p>
Other autosomal dominant forms of Adams-Oliver syndrome include AOS3 (614814), caused by mutation in the RBPJ gene (147183) on chromosome 4p15; AOS5 (616028), caused by mutation in the NOTCH1 gene (190198) on chromosome 9q34; and AOS6 (616589), caused by mutation in the DLL4 gene (605185) on chromosome 15q15.1.</p><p>Autosomal recessive forms of Adams-Oliver syndrome include AOS2 (614219), caused by mutation in the DOCK6 gene (614194) on chromosome 19p13, and AOS4 (615297), caused by mutation in the EOGT gene (614789) on chromosome 3p14.</p>
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<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
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<p>Adams and Oliver (1945) reported a boy with absence of the lower extremities below the midcalf region, absence of all digits and some of the metacarpals of the right hand, a denuded ulcerated area on the vertex of the scalp present at birth, and a bony defect of the skull underlying the scalp defect. The skin and skull lesions were similar to those of aplasia cutis congenita (ACC; 107600). The proband had 4 unaffected brothers and a sister and brother with identical defects of limbs, scalp, and skull. The father was born with absence of toes 2-5 on the left foot, short terminal phalanges of all fingers, and a scalp defect. The father was 1 of 10 children, 3 of whom had defects of the extremities. The father's father was said to have had short fingers. Whitley and Gorlin (1991) provided a follow-up on the family studied by Adams and Oliver (1945); the disorder had been transmitted to a member of a fourth generation. In the intervening 45 years, the original proband had survived to adulthood and was employed, using orthotic devices for lower limb defects. He reported good quality of life and no other medical problems. </p><p>Scribanu and Temtamy (1975) described a family with aplasia cutis congenita with terminal transverse defects of the limbs. The proband was a 3-year-old boy with striking cutis marmorata telangiectatica congenita (CMTC; 219250). There was variable expressivity and reduced penetrance. </p><p>Toriello et al. (1988) described cutis marmorata telangiectatica congenita in a child with the Adams-Oliver syndrome. He also had pulmonary hypertension in association with pulmonary vein stenosis and died at age 4 months of cardiopulmonary arrest. The mother had CMTC without other features. </p><p>Kuster et al. (1988) described 10 individuals with AOS, 7 of them in 2 families and 3 sporadic. The most common features included absence of middle and distal phalanges, brachydactyly, malformed toes, syndactyly of the toes, nail dysplasia, hairless scalp patches, and osseous skull defects. One child had tetralogy of Fallot. The authors identified 11 affected families and 19 sporadic cases that had been reported and found great variability of limb anomalies, ranging from brachydactyly to absent lower limbs. The family data suggested autosomal dominant inheritance. </p><p>Santos et al. (1989) reported a girl with scalp ACC and no distal limb anomalies, who also had aortic coarctation and ventricular septal defect; her mother had ACC and upper and lower limb reductions, and her maternal grandmother had typical ACC. The authors suggested that congenital heart disease could be a component manifestation of AOS. </p><p>Jaeggi et al. (1990) reported an affected mother and child as well as a third sporadic case. Among the 31 reported patients with the full syndrome, major hemorrhage from the scalp defect occurred in 10, with 2 fatalities. Local infection was noted in 7 babies, with 1 case of fatal meningitis. Only 30% of the patients had surgical treatment of their scalp defects by skin grafting. </p><p>Whitley and Gorlin (1991) found reports of 81 cases in 32 families with approximately equal distribution between males and females. The limb defects were usually asymmetric and ranged from hypoplastic nails to absence of a hand or foot. Vertical transmission in at least 8 families was consistent with autosomal dominant inheritance. Despite large defects of the cranium, the authors stated that central nervous system abnormalities had not been found in this disorder and intellectual development appeared to be normal. </p><p>David et al. (1991) reported congenital heart disease in association with the features of Adams-Oliver syndrome. This brought to 6 the number of cases of such an association. Ishikiriyama et al. (1992) added to the description of the association and suggested that ventricular septal defect, including tetralogy of Fallot, may be the predominant type of congenital heart defect in the Adams-Oliver syndrome. </p><p>Fryns et al. (1992) reported a 6-month-old, developmentally retarded male with a congenital scalp defect associated with a ventricular septal defect and valvular pulmonary stenosis. Hands and feet were relatively small with short distal phalanges and small nails of the fifth fingers. Brain CT scan showed marked cerebellar hypoplasia and vermis agenesis. They noted that Paltzik and Aiello (1985) had reported scalp defect in association with ventricular septal defect and pulmonary stenosis. </p><p>On the basis of a sporadic case in a 10-year-old male, Chitayat et al. (1992) suggested that acrania is a severe form of aplasia cutis congenita and is within the spectrum of Adams-Oliver syndrome. In acrania, the flat bones of the cranial vault are absent, whereas the bones at the base of the skull are normal. </p><p>Farrell et al. (1993) described a sporadic case of AOS in a male infant. In addition to typical manifestations, he had atrial septal defect, chylothorax, and chronic juvenile myelogenous leukemia which was diagnosed at 9 months. Review of the literature (102 cases) showed that 78% of patients had defects of lower limbs and 59% had defects of upper limbs. To avoid ascertainment bias, Farrell et al. (1993) excluded propositi for calculations of scalp and skull defects. After this exclusion, 56% of patients had scalp defects and 21% had skull defects. </p><p>Bamforth et al. (1994) reported AOS in a mother and her 3 children with variable scalp defects and limb defects. Other anomalies included congenital heart disease, microcephaly, epilepsy, mental retardation, arhinencephaly, hydrocephaly, anatomic bronchial anomalies, and renal anomalies. The 3 children were by 2 different fathers. </p><p>Zapata et al. (1995) reported 2 patients with Adams-Oliver syndrome and congenital cardiac malformations. A literature review demonstrated that 13.4% of individuals with this syndrome have congenital heart anomalies. </p><p>Pousti and Bartlett (1997) described cutis aplasia congenita in twin boys born to a mother with a history of cutis aplasia. One of the infants had associated distal limb anomalies and the other had cardiac anomalies. </p><p>Lin et al. (1998) reported a mother with scalp ACC but normal digits, who had heart sounds consistent with a bicuspid aortic valve. She had twin boys with AOS and heart anomalies: the cardiac findings were consistent with Shone complex in 1 twin and consisted of bicuspid aortic valve and patent ductus arteriosus in the other. Lin et al. (1998) reported a second family in which the proband was a 3.5-year-old girl with AOS and bicuspid aortic valve, whose father had AOS consisting of ACC and small distal fingertips and fingernails; her sister and paternal grandfather reportedly also had mild AOS features with ACC and digital hypoplasia. Lin et al. (1998) reviewed published cases of AOS and stated that approximately 20% have associated cardiovascular malformations, frequently involving obstructive lesions on the left side of the heart. </p><p>Swartz et al. (1999) reported a 4-year-old girl with AOS who also had double-outlet right ventricle, pulmonary hypertension, and portal hypertension resulting from hepatoportal sclerosis. </p><p>Keymolen et al. (1999) reported a girl with congenital scalp and acral reduction limb defects, consistent with the diagnosis of Adams-Oliver syndrome, who also showed constriction rings, making the limb anomalies similar to those seen in the amniotic band disruption sequence (217100). The report was further evidence that the Adams-Oliver syndrome may be a vascular disruption sequence. </p><p>Savarirayan et al. (1999) described a boy with AOS whose sister was also mildly affected. Their mother had hypoplastic fifth toenails, thought to represent very mild expression of the syndrome. Computed tomography of the brain to investigate mild left hemiparesis in the boy demonstrated severe cortical dysplasia of central, occipital, and anterior regions of the right cerebral hemisphere. The boy and his sister had apparent constriction rings present on the toes. </p><p>Pereira-da-Silva et al. (2000) described 2 patients with AOS, one of whom had necrotic lesions of the fingertips, generalized cutis marmorata telangiectatica, and localized ulceration of the abdominal skin, indicative of a vascular abnormality. </p><p>Patel et al. (2004) described 2 children with AOS and additional features, including intrauterine growth retardation, CMTC, pulmonary hypertension, intracranial densities (shown in 1 patient to be sites of active bleeding), and osteopenia. Patel et al. (2004) concluded that the 2 patients they described, in addition to those reported by Toriello et al. (1988) and Swartz et al. (1999), established that a subset of AOS patients is at high risk for pulmonary hypertension. </p><p>Maniscalco et al. (2005) reported a father and son with AOS and pulmonary arteriovenous malformations (PAVMs). Manifestations of AOS in this 3-generation family included scalp defect, digital hypoplasia and/or syndactyly, and cutis marmorata telangiectasia. The authors suggested that the occurrence of PAVM in AOS supported the hypothesis that endothelial-specific abnormalities could be the pathophysiologic mechanism for the development of AOS. </p><p>Rodrigues (2007) reported a family in which 4 individuals spanning 4 generations had aplasia cutis congenita and congenital heart lesions. In addition, affected individuals had craniofacial abnormalities associated with frontonasal cysts. The proband presented at age 9 days with a midline frontal cyst between the eyebrows. She also had small C-shaped ears, prominent nasal bridge, and a V-shaped gingival notch. Other features included brachydactyly and ventricular septal defect. The proband's mother and grandmother had similar features and a maternal grandfather was reportedly affected. None of the affected members had neurologic or mental impairment. </p><p>Snape et al. (2009) described 3 cases of AOS and provided a detailed review of the available literature, with tabulation of the clinical features of all reported AOS dominant and recessive families as well as sporadic patients. </p><p>Papadopoulou et al. (2008) reported a 14-month-old boy with aplasia cutis congenita, distal limb transverse defects, growth retardation, and a wide atrial septal defect. Central nervous system abnormalities included central hypotonia, small corpus callosum, and developmental delay. MRI showed periventricular leukomalacia and enlarged ventricles. Fetal MRI at 26 weeks' gestation had shown bilateral dilatation of lateral ventricles and periventricular cysts at the site of the postnatal lesions, as well as a hypoplastic corpus callosum. The patient's father and paternal grandfather also had aplasia cutis congenita without mental defect or other anomalies. The antenatal and postnatal MRI findings suggested to the authors that this patient's periventricular leukomalacia may represent an unusual congenital feature of AOS, possibly due to vascular disruption and decreased perfusion during critical periods of fetal brain development. </p><p>Citing previous studies that have shown the possible association between ACC of the scalp and various congenital heart defects, including patent ductus arteriosus (Deeken and Caplan, 1970) and ventricular septal defect (Dubosson and Schneider, 1978), and noting that such congenital heart defects occur in approximately 20% of AOS patients (Lin et al., 1998), Digilio et al. (2008) proposed that variability in clinical expression of AOS might include the association of congenital heart defect and ACC without limb defects. Digilio et al. (2008) pointed to families in which some members exhibit classic AOS and other members have only ACC and congenital heart defect (Santos et al., 1989; Lin et al., 1998) to substantiate their hypothesis. </p><p><strong><em>Reviews</em></strong></p><p>
Sybert (1985) and Frieden (1986) provided reviews. </p>
</span>
<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Stittrich et al. (2014) stated that the incidence of AOS is approximately 1 in 225,000 individuals. </p>
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<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Bonafede and Beighton (1979) reported a family in which 9 members spanning 4 generations had congenital scalp defects associated with abnormalities of the hands and feet. Circumscribed defects of the skull were an inconsistent finding. Inheritance was clearly autosomal dominant, with one instance of male-to-male transmission. </p><p>Sybert (1989) concluded that ACC in association with limb defects is most often inherited in an autosomal dominant pattern. </p>
</span>
<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Pathogenesis</strong>
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</h4>
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<span class="mim-text-font">
<p>Toriello et al. (1988) suggested that the vascular changes in the skin may indicate that features of Adams-Oliver syndrome result from vascular disruption sequences. Jaeggi et al. (1990) also noted that cutis marmorata and dilated scalp veins in AOS suggested a probable vascular disruptive pathogenesis. </p><p>Der Kaloustian et al. (1991) described 2 families having members affected with the Poland anomalad (173800) and AOS. They hypothesized that the Poland anomalad and AOS result from the interruption of early embryonic blood supply in the subclavian arteries, and that the gene predisposing to this interruption follows an autosomal dominant pattern of inheritance. Hoyme et al. (1992) reported that 2 additional individuals in family 2 of Der Kaloustian et al. (1991) had the Poland sequence with no findings of Adams-Oliver syndrome. </p><p>Swartz et al. (1999) suggested that AOS should be considered not merely a syndrome consisting of aplasia cutis congenita and terminal transverse limb defects, but rather a constellation of clinical findings resulting from an early embryonic vascular abnormality. </p><p>Postmortem examination of an AOS patient with pulmonary hypertension reported by Patel et al. (2004) showed defective vascular smooth muscle cell/pericyte coverage of the vasculature associated with 2 blood vessel abnormalities. Pericyte absence correlated with vessel dilatation whereas hyperproliferation of pericytes correlated with vessel stenosis. These findings suggested a unifying pathogenic mechanism for the abnormalities seen in AOS. </p><p>Verdyck et al. (2006) reported a Belgian family in which 10 individuals over 4 generations had Adams-Oliver syndrome, 6 of whom were available for study. Clinical symptoms were variable, as reported in other families, and included large areas of alopecia on the vertex of the skull and serious limb reduction defects with agenesis of all toes of 1 foot. </p>
</span>
<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
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</h4>
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<span class="mim-text-font">
<p>Southgate et al. (2011) performed a genomewide screen in 22 members of 2 multigenerational families segregating autosomal dominant Adams-Oliver syndrome, originally reported by Bonafede and Beighton (1979) and Verdyck et al. (2006), respectively, and identified a locus for the disease on chromosome 3q13.31-q13.33. Fine mapping defined a 5.53-Mb critical interval flanked by markers rs714697 and D3S4523. A maximum multipoint lod score of 4.93 was obtained at marker rs1464311. </p>
</span>
<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In 2 families with congenital scalp defects and distal limb reduction anomalies mapping to chromosome 3q13, originally reported by Bonafede and Beighton (1979) and Verdyck et al. (2006), respectively, Southgate et al. (2011) sequenced 4 candidate genes and identified heterozygosity for 2 different truncating mutations in the ARHGAP31 gene (610911.0001 and 610911.0002, respectively) that segregated with disease in each family. Sequencing of ARHGAP31 in 3 additional multiplex AOS kindreds as well as 43 sporadic patients with features of aplasia cutis congenita and/or terminal transverse limb defects revealed no mutations. </p>
</span>
<div>
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</div>
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<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Burton et al. (1976); Fryns (1987); McMurray et al. (1977)
</span>
<div>
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</div>
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<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Adams, F. H., Oliver, C. P.
<strong>Hereditary deformities in man due to arrested development.</strong>
J. Hered. 36: 3-7, 1945.
</p>
</li>
<li>
<p class="mim-text-font">
Bamforth, J. S., Kaurah, P., Byrne, J., Ferreira, P.
<strong>Adams Oliver syndrome: a family with extreme variability in clinical expression.</strong>
Am. J. Med. Genet. 49: 393-396, 1994.
[PubMed: 8160731]
[Full Text: https://doi.org/10.1002/ajmg.1320490408]
</p>
</li>
<li>
<p class="mim-text-font">
Bonafede, R. P., Beighton, P.
<strong>Autosomal dominant inheritance of scalp defects with ectrodactyly.</strong>
Am. J. Med. Genet. 3: 35-41, 1979.
[PubMed: 474617]
[Full Text: https://doi.org/10.1002/ajmg.1320030109]
</p>
</li>
<li>
<p class="mim-text-font">
Burton, B. K., Hauser, L., Nadler, H. L.
<strong>Congenital scalp defects with distal limb anomalies: report of a family.</strong>
J. Med. Genet. 13: 466-468, 1976.
[PubMed: 1018305]
[Full Text: https://doi.org/10.1136/jmg.13.6.466]
</p>
</li>
<li>
<p class="mim-text-font">
Chitayat, D., Meunier, C., Hodgkinson, K. A., Robb, L., Azouz, M.
<strong>Acrania: a manifestation of the Adams-Oliver syndrome.</strong>
Am. J. Med. Genet. 44: 562-566, 1992.
[PubMed: 1481809]
[Full Text: https://doi.org/10.1002/ajmg.1320440506]
</p>
</li>
<li>
<p class="mim-text-font">
David, A., Roze, J.-C., Melon-David, V.
<strong>Adams-Oliver syndrome associated with congenital heart defect: not a coincidence. (Letter)</strong>
Am. J. Med. Genet. 40: 126-127, 1991.
[PubMed: 1887843]
[Full Text: https://doi.org/10.1002/ajmg.1320400128]
</p>
</li>
<li>
<p class="mim-text-font">
Deeken, J. H., Caplan, R. M.
<strong>Aplasia cutis congenita.</strong>
Arch. Derm. 102: 386-389, 1970.
[PubMed: 5536130]
</p>
</li>
<li>
<p class="mim-text-font">
Der Kaloustian, V. M., Hoyme, H. E., Hogg, H., Entin, M. A., Guttmacher, A. E.
<strong>Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome.</strong>
Am. J. Med. Genet. 38: 69-73, 1991.
[PubMed: 2012136]
[Full Text: https://doi.org/10.1002/ajmg.1320380116]
</p>
</li>
<li>
<p class="mim-text-font">
Digilio, M. C., Marino, B., Dallapiccola, B.
<strong>Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: a possible link to the Adams-Oliver syndrome. (Letter)</strong>
Am. J. Med. Genet. 146A: 2842-2844, 2008.
[PubMed: 18924173]
[Full Text: https://doi.org/10.1002/ajmg.a.32526]
</p>
</li>
<li>
<p class="mim-text-font">
Dubosson, J.-D., Schneider, P.
<strong>Manifestation familiale d&#x27;une aplasie cutanee circonscrite du vertex (ACCV), associee dans un cas a une malformation cardiaque.</strong>
J. Genet. Hum. 26: 351-365, 1978.
[PubMed: 752066]
</p>
</li>
<li>
<p class="mim-text-font">
Farrell, S. A., Warda, L. J., LaFlair, P., Szymonowicz, W.
<strong>Adams-Oliver syndrome: a case with juvenile chronic myelogenous leukemia and chylothorax.</strong>
Am. J. Med. Genet. 47: 1175-1179, 1993.
[PubMed: 8291551]
[Full Text: https://doi.org/10.1002/ajmg.1320470809]
</p>
</li>
<li>
<p class="mim-text-font">
Frieden, I.
<strong>Aplasia cutis congenita: a clinical review and proposal for classification.</strong>
J. Am. Acad. Derm. 14: 646-660, 1986.
[PubMed: 3514708]
[Full Text: https://doi.org/10.1016/s0190-9622(86)70082-0]
</p>
</li>
<li>
<p class="mim-text-font">
Fryns, J. P., de Cock, P., van den Berghe, H.
<strong>Occipital scalp defect associated with valvular pulmonary stenosis: a new entity?</strong>
Clin. Genet. 42: 97-99, 1992.
[PubMed: 1424238]
[Full Text: https://doi.org/10.1111/j.1399-0004.1992.tb03147.x]
</p>
</li>
<li>
<p class="mim-text-font">
Fryns, J. P.
<strong>Congenital scalp defects with distal limb reduction anomalies.</strong>
J. Med. Genet. 24: 493-496, 1987.
[PubMed: 3656372]
[Full Text: https://doi.org/10.1136/jmg.24.8.493]
</p>
</li>
<li>
<p class="mim-text-font">
Hoyme, H. E., Entin, M. A., Der Kaloustian, V. M., Hogg, H., Guttmacher, A. E.
<strong>Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome: an additional clinical observation. (Letter)</strong>
Am. J. Med. Genet. 42: 398-399, 1992.
[PubMed: 1536190]
[Full Text: https://doi.org/10.1002/ajmg.1320420334]
</p>
</li>
<li>
<p class="mim-text-font">
Ishikiriyama, S., Kaou, B., Udagawa, A., Niwa, K.
<strong>Congenital heart defect in a Japanese girl with Adams-Oliver syndrome: one of the most important complications. (Letter)</strong>
Am. J. Med. Genet. 43: 900-901, 1992.
[PubMed: 1642283]
[Full Text: https://doi.org/10.1002/ajmg.1320430533]
</p>
</li>
<li>
<p class="mim-text-font">
Jaeggi, E., Kind, C., Morger, R.
<strong>Congenital scalp and skull defects with terminal transverse limb anomalies (Adams-Oliver syndrome): report of three additional cases.</strong>
Europ. J. Pediat. 149: 565-566, 1990.
[PubMed: 2161342]
[Full Text: https://doi.org/10.1007/BF01957693]
</p>
</li>
<li>
<p class="mim-text-font">
Keymolen, K., De Smet, L., Bracke, P., Fryns, J. P.
<strong>The concurrence of ring constrictions in Adams-Oliver syndrome: additional evidence for vascular disruption as common pathogenetic mechanism.</strong>
Genet. Counsel. 10: 295-300, 1999.
[PubMed: 10546102]
</p>
</li>
<li>
<p class="mim-text-font">
Kuster, W., Lenz, W., Kaariainen, H., Majewski, F.
<strong>Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): report of ten cases and review of the literature.</strong>
Am. J. Med. Genet. 31: 99-115, 1988.
[PubMed: 3066221]
[Full Text: https://doi.org/10.1002/ajmg.1320310112]
</p>
</li>
<li>
<p class="mim-text-font">
Lin, A. E., Westgate, M.-N., van der Velde, M. E., Lacro, R. V., Holmes, L. B.
<strong>Adams-Oliver syndrome associated with cardiovascular malformations.</strong>
Clin. Dysmorph. 7: 235-241, 1998.
[PubMed: 9823488]
[Full Text: https://doi.org/10.1097/00019605-199810000-00001]
</p>
</li>
<li>
<p class="mim-text-font">
Maniscalco, M., Zedda, A., Faraone, S., de Laurentiis, G., Verde, R., Molese, V., Lapiccirella, G., Sofia, M.
<strong>Association of Adams-Oliver syndrome with pulmonary arterio-venous malformation in the same family: a further support to the vascular hypothesis.</strong>
Am. J. Med. Genet. 136A: 269-274, 2005.
[PubMed: 15948197]
[Full Text: https://doi.org/10.1002/ajmg.a.30828]
</p>
</li>
<li>
<p class="mim-text-font">
McMurray, B. R., Martin, L. W., Dignan, P. S. J., Fogelson, M. H.
<strong>Hereditary aplasia cutis congenita and associated defects: three instances in one family and a survey of reported cases.</strong>
Clin. Pediat. 16: 610-614, 1977.
[PubMed: 862297]
[Full Text: https://doi.org/10.1177/000992287701600705]
</p>
</li>
<li>
<p class="mim-text-font">
Paltzik, R. L., Aiello, A. M.
<strong>Aplasia cutis congenita associated with valvular heart disease.</strong>
Cutis 36: 57-58, 1985.
[PubMed: 3839451]
</p>
</li>
<li>
<p class="mim-text-font">
Papadopoulou, E., Sifakis, S., Raissaki, M., Germanakis, I., Kalmanti, M.
<strong>Antenatal and postnatal evidence of periventricular leukomalacia as a further indication of vascular disruption in Adams-Oliver syndrome.</strong>
Am. J. Med. Genet. 146A: 2545-2550, 2008.
[PubMed: 18792979]
[Full Text: https://doi.org/10.1002/ajmg.a.32410]
</p>
</li>
<li>
<p class="mim-text-font">
Patel, M. S., Taylor, G. P., Bharya, S., Al-Sanna'a, N., Adatia, I., Chitayat, D., Lewis, M. E. S., Human, D. G.
<strong>Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome.</strong>
Am. J. Med. Genet. 129A: 294-299, 2004.
[PubMed: 15326631]
[Full Text: https://doi.org/10.1002/ajmg.a.30221]
</p>
</li>
<li>
<p class="mim-text-font">
Pereira-da-Silva, L., Leal, F., Santos, G. C., Amaral, J. M. V., Feijoo, M. J.
<strong>Clinical evidence of vascular abnormalities at birth in Adams-Oliver syndrome: report of two further cases. (Letter)</strong>
Am. J. Med. Genet. 94: 75-76, 2000.
[PubMed: 10982487]
[Full Text: https://doi.org/10.1002/1096-8628(20000904)94:1&lt;75::aid-ajmg15&gt;3.0.co;2-3]
</p>
</li>
<li>
<p class="mim-text-font">
Pousti, T. J., Bartlett, R. A.
<strong>Adams-Oliver syndrome: genetics and associated anomalies of cutis aplasia.</strong>
Plast. Reconstr. Surg. 100: 1491-1496, 1997.
[PubMed: 9385961]
[Full Text: https://doi.org/10.1097/00006534-199711000-00018]
</p>
</li>
<li>
<p class="mim-text-font">
Rodrigues, R. G.
<strong>Aplasia cutis congenita, congenital heart lesions, and frontonasal cysts in four successive generations.</strong>
Clin. Genet. 71: 558-560, 2007.
[PubMed: 17539905]
[Full Text: https://doi.org/10.1111/j.1399-0004.2007.00806.x]
</p>
</li>
<li>
<p class="mim-text-font">
Santos, H., Cordeiro, I., Menezes, I.
<strong>Aplasia cutis congenita associated with congenital heart defect, not a coincidence? (Letter)</strong>
Am. J. Med. Genet. 34: 614-615, 1989.
[PubMed: 2519562]
[Full Text: https://doi.org/10.1002/ajmg.1320340437]
</p>
</li>
<li>
<p class="mim-text-font">
Savarirayan, R., Thompson, E. M., Abbott, K. J., Moore, M. H.
<strong>Cerebral cortical dysplasia and digital constriction rings in Adams-Oliver syndrome.</strong>
Am. J. Med. Genet. 86: 15-19, 1999.
[PubMed: 10440823]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19990903)86:1&lt;15::aid-ajmg4&gt;3.0.co;2-i]
</p>
</li>
<li>
<p class="mim-text-font">
Scribanu, N., Temtamy, S. A.
<strong>Syndrome of aplasia cutis congenita with terminal transverse defects of limbs.</strong>
J. Pediat. 87: 79-82, 1975.
[PubMed: 1173820]
[Full Text: https://doi.org/10.1016/s0022-3476(75)80074-6]
</p>
</li>
<li>
<p class="mim-text-font">
Snape, K. M. G., Ruddy, D., Zenker, M., Wuyts, W., Whiteford, M., Johnson, D., Lam, W., Trembath, R. C.
<strong>The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects.</strong>
Am. J. Med. Genet. 149A: 1860-1881, 2009.
[PubMed: 19610107]
[Full Text: https://doi.org/10.1002/ajmg.a.32708]
</p>
</li>
<li>
<p class="mim-text-font">
Southgate, L., Machado, R. D., Snape, K. M., Primeau, M., Dafou, D., Ruddy, D. M., Branney, P. A., Fisher, M., Lee, G. J., Simpson, M. A., He, Y., Bradshaw, T. Y., and 9 others.
<strong>Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.</strong>
Am. J. Hum. Genet. 88: 574-585, 2011.
[PubMed: 21565291]
[Full Text: https://doi.org/10.1016/j.ajhg.2011.04.013]
</p>
</li>
<li>
<p class="mim-text-font">
Stittrich, A.-B., Lehman, A., Bodian, D. L., Ashworth, J., Zong, Z., Li, H., Lam, P., Khromykh, A., Iyer, R. K., Vockley, J. G., Baveja, R., Silva, E. S., Dixon, J., Leon, E. L., Solomon, B. D., Glusman, G., Niederhuber, J. E., Roach, J. C., Patel, M. S.
<strong>Mutations in NOTCH1 cause Adams-Oliver syndrome.</strong>
Am. J. Hum. Genet. 95: 275-284, 2014.
[PubMed: 25132448]
[Full Text: https://doi.org/10.1016/j.ajhg.2014.07.011]
</p>
</li>
<li>
<p class="mim-text-font">
Swartz, E. N., Sanatani, S., Sandor, G. G. S., Schreiber, R. A.
<strong>Vascular abnormalities in Adams-Oliver syndrome: cause or effect?</strong>
Am. J. Med. Genet. 82: 49-52, 1999.
[PubMed: 9916843]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19990101)82:1&lt;49::aid-ajmg10&gt;3.0.co;2-m]
</p>
</li>
<li>
<p class="mim-text-font">
Sybert, V. P.
<strong>Aplasia cutis congenita: a report of 12 new families and review of the literature.</strong>
Pediat. Derm. 3: 1-14, 1985.
[PubMed: 3906608]
[Full Text: https://doi.org/10.1111/j.1525-1470.1985.tb00478.x]
</p>
</li>
<li>
<p class="mim-text-font">
Sybert, V. P.
<strong>Congenital scalp defects with distal limb anomalies (Adams-Oliver Syndrome--McKusick 10030): further suggestion of autosomal recessive inheritance. (Letter)</strong>
Am. J. Med. Genet. 32: 266-267, 1989.
[PubMed: 2929669]
[Full Text: https://doi.org/10.1002/ajmg.1320320230]
</p>
</li>
<li>
<p class="mim-text-font">
Toriello, H. V., Graff, R. G., Florentine, M. F., Lacina, S., Moore, W. D.
<strong>Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome?</strong>
Am. J. Med. Genet. 29: 269-276, 1988.
[PubMed: 3354598]
[Full Text: https://doi.org/10.1002/ajmg.1320290204]
</p>
</li>
<li>
<p class="mim-text-font">
Verdyck, P., Blaumeiser, B., Holder-Espinasse, M., Van Hul, W., Wuyts, W.
<strong>Adams-Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes.</strong>
Clin. Genet. 69: 86-92, 2006.
[PubMed: 16451141]
[Full Text: https://doi.org/10.1111/j.1399-0004.2006.00552.x]
</p>
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<p class="mim-text-font">
Whitley, C. B., Gorlin, R. J.
<strong>Adams-Oliver syndrome revisited.</strong>
Am. J. Med. Genet. 40: 319-326, 1991.
[PubMed: 1951437]
[Full Text: https://doi.org/10.1002/ajmg.1320400315]
</p>
</li>
<li>
<p class="mim-text-font">
Zapata, H. H., Sletten, L. J., Pierpont, M. E. M.
<strong>Congenital cardiac malformations in Adams-Oliver syndrome.</strong>
Clin. Genet. 47: 80-84, 1995.
[PubMed: 7606848]
[Full Text: https://doi.org/10.1111/j.1399-0004.1995.tb03928.x]
</p>
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Marla J. F. O&#x27;Neill - updated : 10/6/2015<br>Marla J. F. O&#x27;Neill - updated : 9/24/2014<br>Marla J. F. O&#x27;Neill - updated : 7/2/2013<br>Marla J. F. O&#x27;Neill - updated : 9/7/2012<br>Marla J. F. O&#x27;Neill - updated : 9/9/2011<br>Marla J. F. O&#x27;Neill - updated : 5/26/2011<br>Cassandra L. Kniffin - updated : 10/1/2010<br>Marla J. F. O&#x27;Neill - updated : 8/31/2009<br>Cassandra L. Kniffin - updated : 4/20/2009<br>Cassandra L. Kniffin - updated : 2/13/2009<br>Cassandra L. Kniffin - updated : 2/25/2008<br>Cassandra L. Kniffin - reorganized : 7/16/2007<br>Cassandra L. Kniffin - updated : 7/12/2007<br>Victor A. McKusick - updated : 3/7/2006<br>Cassandra L. Kniffin - updated : 10/12/2005<br>Victor A. McKusick - updated : 9/21/2005<br>Victor A. McKusick - updated : 9/22/2004<br>Victor A. McKusick - updated : 9/18/2000<br>Victor A. McKusick - updated : 1/14/2000<br>Victor A. McKusick - updated : 9/1/1999<br>Victor A. McKusick - updated : 1/12/1999<br>Victor A. McKusick - updated : 12/21/1998<br>Victor A. McKusick - updated : 2/26/1998<br>Iosif W. Lurie - updated : 8/12/1996
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Victor A. McKusick : 6/4/1986
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