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Entry
- #304150 - OCCIPITAL HORN SYNDROME; OHS
- OMIM
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<span class="h4">#304150</span>
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<a href="/clinicalSynopsis/304150"><strong>Clinical Synopsis</strong></a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#nomenclature">Nomenclature</a>
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<div><a href="http://www.informatics.jax.org/disease/304150" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:0111272" 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>SNOMEDCT:</strong> 59399004<br />
<strong>ORPHA:</strong> 198<br />
<strong>DO:</strong> 0111272<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>
304150
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
OCCIPITAL HORN SYNDROME; OHS
</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">
CUTIS LAXA, X-LINKED, FORMERLY<br />
EHLERS-DANLOS SYNDROME, OCCIPITAL HORN TYPE, FORMERLY<br />
EDS IX, FORMERLY<br />
EDS9, FORMERLY
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/450?start=-3&limit=10&highlight=450">
Xq21.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Occipital horn syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/304150"> 304150 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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">
ATP7A
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300011"> 300011 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/304150" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/304150" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/304150" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</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">
- Persistent, open anterior fontanel <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849537&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849537</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004474" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004474</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004474" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004474</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Long, thin face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844686&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844686</a>]</span><br /> -
High forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239676&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239676</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000348" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000348</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000348" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000348</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=1ed202dc7ca7d5b2c5e34a787d713dec" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Hairline,High_Anterior-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=1ed202dc7ca7d5b2c5e34a787d713dec&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 /> -
Long philtrum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865014&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865014</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000343" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000343</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000343" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000343</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6e8169f9668cf95ffe7aad93a28f672b" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Philtrum,Long-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=6e8169f9668cf95ffe7aad93a28f672b&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> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hooked nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000444" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000444</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000444" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000444</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=8ba747980330dee5f23826c6c859e97e" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nasal_Ridge,Convex-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=8ba747980330dee5f23826c6c859e97e&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> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- High-arched palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Neck </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Long neck <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839816</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000472" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000472</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000472" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000472</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=619db1bb487293c86a95953c08d87354" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Neck,Long-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=619db1bb487293c86a95953c08d87354&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>
<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> Vascular </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Orthostatic hypotension <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28651003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28651003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I95.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I95.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/458.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">458.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020651&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020651</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001278" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001278</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001278" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001278</a>]</span><br /> -
Elongated, tortuous carotid arteries <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844693&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844693</a>]</span><br /> -
Intracranial arterial narrowing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844694&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844694</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">
- Narrow shoulders <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249671009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249671009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426790&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426790</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000774</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000774</a>]</span><br /> -
Narrow chest <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249671009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249671009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426790&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426790</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000774</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000774</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ribs Sternum Clavicles & Scapulae </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short, broad clavicles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844684&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844684</a>]</span><br /> -
Pectus excavatum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/391987005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">391987005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/391982004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">391982004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016842&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016842</a>, <a href="https://bioportal.bioontology.org/search?q=C2051831&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2051831</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000767" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000767</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000767" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000767</a>]</span><br /> -
Pectus carinatum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205101001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205101001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38774000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38774000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.82</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2939416&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2939416</a>, <a href="https://bioportal.bioontology.org/search?q=C0158731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000768" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000768</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000768" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000768</a>]</span><br /> -
Short, broad ribs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844685&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844685</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Chronic diarrhea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236071009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236071009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0401151&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0401151</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002028</a>]</span><br /> -
Hiatal hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84089009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84089009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3489393&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3489393</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002036" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002036</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002036" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002036</a>]</span><br />
</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> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hydronephrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43064006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43064006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.30</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/591" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">591</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020295</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ureters </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Ureteral obstruction <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20018005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20018005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/766956009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">766956009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0041956&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0041956</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006000</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006000</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Bladder </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Bladder diverticula <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197866008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197866008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N32.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N32.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/596.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">596.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0156273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0156273</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000015</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000015</a>]</span><br /> -
Bladder rupture <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/251925007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">251925007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0840564&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0840564</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:6000662" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:6000662</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:6000662" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:6000662</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Joint laxity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298203008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298203008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/788453008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">788453008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862377</a>, <a href="https://bioportal.bioontology.org/search?q=C0086437&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086437</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span><br /> -
Osteoporosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64859006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64859006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Z82.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Z82.62</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M81.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M81.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/733.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/V17.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">V17.81</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/733.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2911643&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2911643</a>, <a href="https://bioportal.bioontology.org/search?q=C0029456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029456</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000939" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000939</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000939" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000939</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Skull </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Occipital horn exostoses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844688&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844688</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Kyphosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71311003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71311003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414564002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414564002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413428007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413428007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M40.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M40.20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.41</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/737.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">737.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265673&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265673</a>, <a href="https://bioportal.bioontology.org/search?q=C0022821&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022821</a>, <a href="https://bioportal.bioontology.org/search?q=C2115817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2115817</a>, <a href="https://bioportal.bioontology.org/search?q=C0022822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span><br /> -
Mild platyspondyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848999&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848999</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005752" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005752</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Pelvis </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Coxa valga <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33754009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33754009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16979000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16979000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299236004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299236004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q65.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q65.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.61</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/736.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158480</a>, <a href="https://bioportal.bioontology.org/search?q=C0152430&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152430</a>, <a href="https://bioportal.bioontology.org/search?q=C0239137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239137</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002673" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002673</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002673" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002673</a>]</span><br /> -
Pelvic exostoses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844689&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844689</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003276</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003276</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">
- Short humeri <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1832117&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832117</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005792" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005792</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005792" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005792</a>]</span><br /> -
Genu valgum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299330008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299330008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52012001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52012001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.06" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.06</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158484&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158484</a>, <a href="https://bioportal.bioontology.org/search?q=C0576093&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0576093</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002857" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002857</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002857" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002857</a>]</span><br /> -
Limited elbow extension <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867103&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867103</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001377" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001377</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001377" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001377</a>]</span><br /> -
Limited knee extension <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844690&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844690</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003066" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003066</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003066" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003066</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">
- Capitate-hamate fusion <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857002</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001241" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001241</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001241" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001241</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pes planus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23407003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23407003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/203534009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">203534009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53226007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53226007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.61</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">734</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016202&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016202</a>, <a href="https://bioportal.bioontology.org/search?q=C0392477&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392477</a>, <a href="https://bioportal.bioontology.org/search?q=C0264133&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0264133</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001763" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001763</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001763" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001763</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=1f893093d35c2d1df583eed57a47b6cb" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Pes_Planus-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=1f893093d35c2d1df583eed57a47b6cb&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>
<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">
- Soft skin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844592&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844592</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000977" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000977</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000977" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000977</a>]</span><br /> -
Mildly extensible skin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844691&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844691</a>]</span><br /> -
Loose, redundant skin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/201093004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">201093004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0581342&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0581342</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001582" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001582</a>]</span><br /> -
Easy bruisability <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/425075004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">425075004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/424131007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">424131007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423798&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423798</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000978" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000978</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000978" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000978</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">
- Coarse hair <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48610005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48610005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0277959&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0277959</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002208" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002208</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002208" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002208</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">
- Low-normal IQ <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844683&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844683</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEOPLASIA </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Bladder carcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/255108000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">255108000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0699885&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0699885</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002862" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002862</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002862" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002862</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Decreased serum copper <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0859988&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0859988</a>]</span><br /> -
Decreased ceruloplasmin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0860916&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0860916</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the ATPase, Cu++ transporting, alpha polypeptide gene (ATP7A, <a href="/entry/300011#0002">300011.0002</a>)<br />
</span>
</div>
</div>
</div>
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<p>A number sign (#) is used with this entry because occipital horn syndrome (OHS) is caused by mutation in the ATP7A gene (<a href="/entry/300011">300011</a>) on chromosome Xq21. Menkes syndrome (<a href="/entry/309400">309400</a>) is caused by mutation in the same gene.</p>
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<p>Occipital horn syndrome (OHS) is a rare connective tissue disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, and multiple skeletal abnormalities. The disorder is sometimes accompanied by mild neurologic impairment, and bony abnormalities of the occiput are a common feature, giving rise to the name (summary by <a href="#5" class="mim-tip-reference" title="Das, S., Levinson, B., Vulpe, C., Whitney, S., Gitschier, J., Packman, S. &lt;strong&gt;Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.&lt;/strong&gt; Am. J. Hum. Genet. 56: 570-576, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7887410/&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;7887410&lt;/a&gt;]" pmid="7887410">Das et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7887410" 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="#14" class="mim-tip-reference" title="Lazoff, S. G., Rybak, J. J., Parker, B. R., Luzzatti, L. &lt;strong&gt;Skeletal dysplasia, occipital horns, intestinal malabsorption, and obstructive uropathy--a new hereditary syndrome.&lt;/strong&gt; Birth Defects Orig. Art. Ser. XI(5): 71-74, 1975."None>Lazoff et al. (1975)</a> described an unusual syndrome in an 11-year-old male and 2 maternal uncles. Bony 'horns,' symmetrically situated on each side of the foramen magnum and pointing caudad, were demonstrable radiographically. A lifelong history of frequent loose stools, obstructive uropathy requiring in 1 uncle ileal loop diversion, and mild mental retardation were other features. Some suspicion that a relative through the maternal grandfather had the same condition (which could not be confirmed because of lack of cooperation) meant that autosomal dominant inheritance with reduced penetrance could not be excluded.</p><p><a href="#3" class="mim-tip-reference" title="Byers, P. H., Narayanan, A. S., Bornstein, P., Hall, J. G. &lt;strong&gt;An X-linked form of cutis laxa due to deficiency of lysyloxidase.&lt;/strong&gt; Birth Defects Orig. Art. Ser. 12(5): 293-298, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/953234/&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;953234&lt;/a&gt;]" pmid="953234">Byers et al. (1976)</a> found deficiency of lysyl oxidase in affected males in a family with apparent X-linked cutis laxa. Three affected males were observed, each in a different sibship connected through females who as children showed joint laxity but outgrew it. Hooked nose and long philtrum typical of cutis laxa were described. In 1 case, pectus excavatum and carinatum were sufficiently severe to require surgical repair shortly after birth. Two cousins were brought to medical attention because of recurrent urinary tract infection due to multiple large diverticula of the bladder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=953234" 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="MacFarlane, J. D., Hollister, D. W., Weaver, D. D., Brandt, K. D., Luzzatti, L., Biegel, A. A. &lt;strong&gt;A new Ehlers-Danlos syndrome with skeletal dysplasia. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 32: 118A, 1980."None>MacFarlane et al. (1980)</a> described 2 kindreds with an X-linked disorder that in general appeared to fall into the Ehlers-Danlos category but had some unusual features such as bladder diverticula, bladder neck obstruction, marked varicosities, and, by x-ray, occipital horns, short broad clavicles, and fused carpal bones. <a href="#6" class="mim-tip-reference" title="Hall, J. G. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Seattle, Wash. 1980."None>Hall (1980)</a> found that the children studied with <a href="#3" class="mim-tip-reference" title="Byers, P. H., Narayanan, A. S., Bornstein, P., Hall, J. G. &lt;strong&gt;An X-linked form of cutis laxa due to deficiency of lysyloxidase.&lt;/strong&gt; Birth Defects Orig. Art. Ser. 12(5): 293-298, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/953234/&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;953234&lt;/a&gt;]" pmid="953234">Byers et al. (1976)</a> also had occipital horns, and diarrhea, a feature found in MacFarlane's families, was also present. Thus, these are probably the same disorder. The age at which the affected persons were studied may have been a factor in determining whether the disorder was labeled cutis laxa or EDS. Low levels of ceruloplasmin (<a href="/entry/117700">117700</a>) and serum copper were found in these cases, suggesting that, like Menkes syndrome, it may be a disorder of copper metabolism rather than a primary defect of lysyl oxidase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=953234" 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="Hollister, D. W. &lt;strong&gt;Clinical features of Ehlers-Danlos syndrome types VIII and IX.In: Akeson, W.; Glimcher, M. J.; Bornstein, P. : Proceeding of the Workshop on Inherited Connective Tissue Disorders.&lt;/strong&gt; New York: Elsevier/North Holland Press (pub.) 1981."None>Hollister (1981)</a> pointed out that the patients show hypermobility of the finger joints but limitation of extension of the elbows.</p><p><a href="#13" class="mim-tip-reference" title="Kuivaniemi, H., Peltonen, L., Palotie, A., Kaitila, I., Kivirikko, K. I. &lt;strong&gt;Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder.&lt;/strong&gt; J. Clin. Invest. 69: 730-733, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6120954/&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;6120954&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/jci110503&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="6120954">Kuivaniemi et al. (1982)</a> studied 2 brothers with bladder diverticula, inguinal hernias, slight skin laxity and hyperextensibility, and skeletal abnormalities, including occipital exostoses. Lysyl oxidase activity was low in the medium of cultured skin fibroblasts, and conversion of newly synthesized collagen into the insoluble form was reduced. Copper concentrations were markedly elevated in cultured skin fibroblasts but decreased in serum and hair. Serum ceruloplasmin levels were low. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6120954" 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="#9" class="mim-tip-reference" title="Kaitila, I. I., Peltonen, L., Kuivaniemi, H., Palotie, A., Elo, J., Kivirikko, K. I. &lt;strong&gt;A skeletal and connective tissue disorder associated with lysyl oxidase deficiency and abnormal copper metabolism.In: Papadatos, C. J.; Bartsocas, C. S. : Skeletal Dysplasias.&lt;/strong&gt; New York: Alan R. Liss (pub.) 1982. Pp. 307-316."None>Kaitila et al. (1982)</a> suggested that this disorder may be allelic to Menkes disease.</p><p><a href="#18" class="mim-tip-reference" title="Peltonen, L., Kuivaniemi, H., Palotie, A., Horn, N., Kaitila, I., Kivirikko, K. I. &lt;strong&gt;Alterations in copper and collagen metabolism in the Menkes syndrome and a new subtype of the Ehlers-Danlos syndrome.&lt;/strong&gt; Biochemistry 22: 6156-6163, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6140952/&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;6140952&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1021/bi00295a018&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="6140952">Peltonen et al. (1983)</a> found many similar abnormalities of copper and collagen metabolism in the cultured fibroblasts of 13 patients with Menkes syndrome and 2 patients with OHS (then called EDS IX). In both disorders, fibroblasts had markedly increased copper content and rate of incorporation of (64)Cu, and accumulation was in metallothionein or a metallothionein-like protein as previously established for Menkes cells. Histochemical staining showed that copper was distributed uniformly throughout the cytoplasm in both cell types, this location being consistent with accumulation in metallothionein. Both fibroblast types showed very low lysyl oxidase activity and increased extractability of newly synthesized collagen, but no abnormality in cell viability, duplication rate, prolyl 4-hydroxylase activity, or collagen synthesis rate. Skin biopsy specimens from one EDS IX patient showed the same abnormalities in lysyl oxidase activity and collagen extractability. Fibroblasts of the mother of EDS IX patients showed increased (64)Cu incorporation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6140952" 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>Allelism of occipital horn syndrome and Menkes syndrome was demonstrated in a definitive way by <a href="#5" class="mim-tip-reference" title="Das, S., Levinson, B., Vulpe, C., Whitney, S., Gitschier, J., Packman, S. &lt;strong&gt;Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.&lt;/strong&gt; Am. J. Hum. Genet. 56: 570-576, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7887410/&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;7887410&lt;/a&gt;]" pmid="7887410">Das et al. (1995)</a> who identified hemizygosity for a mutation in the copper-transporting ATPase that is mutant in Menkes syndrome. One of the mild mottled mutants in the mouse, 'blotchy,' symbolized Mo-blo, exhibits connective tissue abnormalities reminiscent of those seen in OHS patients, including weak skin and bone abnormalities. In blotchy males, hindlegs are occasionally deformed, vibrissae are kinked at birth, crosslinking of skin collagen and aortic elastin is defective, and death frequently results from aortic rupture. <a href="#5" class="mim-tip-reference" title="Das, S., Levinson, B., Vulpe, C., Whitney, S., Gitschier, J., Packman, S. &lt;strong&gt;Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.&lt;/strong&gt; Am. J. Hum. Genet. 56: 570-576, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7887410/&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;7887410&lt;/a&gt;]" pmid="7887410">Das et al. (1995)</a> identified similar splicing mutations in both the blotchy mouse and cases of the occipital horn syndrome. <a href="#5" class="mim-tip-reference" title="Das, S., Levinson, B., Vulpe, C., Whitney, S., Gitschier, J., Packman, S. &lt;strong&gt;Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.&lt;/strong&gt; Am. J. Hum. Genet. 56: 570-576, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7887410/&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;7887410&lt;/a&gt;]" pmid="7887410">Das et al. (1995)</a> reported 2 OHS patients in each of whom there was a deletion of 1 exon in the ATP7A gene; one deletion was caused by an A-to-G transition at the -4 position of the splice acceptor site 5-prime of the skipped exon, and the other deletion was caused by a G-to-A transition at the +5 splice donor site following the skipped exon. The first patient had presented to a genetics clinic at the age of 14 years for evaluation of musculoskeletal abnormalities and recurrent bladder rupture. In the neonatal period, mild hypotonia and, on radiographs, cranial contour abnormalities and wormian bones had been observed. There had been numerous orthopedic interventions, including osteotomies for leg straightening and treatment for multiple compression fractures of the vertebrae. Recurrent bladder rupture, bladder diverticula, vesicular calcium stones, and atonic bladder required intermittent catheterization. Examination showed dolichocephaly, prominent and simple ears, downslanting palpebral fissures with bilateral ptosis, dental crowding, pectus carinatum, cutis laxa, and muscle wasting. Neurologic status, including cognition, was normal. Serum ceruloplasmin was slightly low. Radiographs demonstrated osteopenia, dislocated radial heads, and characteristic occipital horns. Radiocopper accumulation in fibroblasts was elevated. The second patient presented to a medical genetics clinic at the age of 15 years, at which time he was wheelchair-bound because of genu valgum and coxa vara deformities. He was mentally retarded. The skin had a cobblestone appearance with hyperelasticity at the elbows and without skin friability. There was laxity of the interphalangeal joints with contractures at the elbows and knees. Serum ceruloplasmin and copper determinations were normal. Radiographs showed bilateral occipital horns. The large diverticula of the bladder were demonstrated. X-rays of the skeleton showed osteoporosis, fusion anomalies in the wrist, and dysplasia of the radius and ulna, with dislocation of the radius at the elbow. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7887410" 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>That the occipital horn syndrome has ramifications beyond connective tissue is suggested by peculiarities of personality. Unlike patients with Menkes disease, most patients with OHS have mild mental retardation. <a href="#22" class="mim-tip-reference" title="Wakai, S., Ishikawa, Y., Nagaoka, M., Okabe, M., Minami, R., Hayakawa, T. &lt;strong&gt;Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlos type IX--a first Japanese case.&lt;/strong&gt; J. Neurol. Sci. 116: 1-5, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8099605/&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;8099605&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0022-510x(93)90081-9&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="8099605">Wakai et al. (1993)</a> described the first Japanese case in a 34-year-old man who had psychomotor retardation and seizures since early childhood. At the time of study, he had severe mental retardation and generalized muscular atrophy, in addition to characteristic facial features, hyperelasticity of the skin, and joint subluxation. Laboratory studies demonstrated low serum copper and ceruloplasmin levels as well as intestinal nonabsorption of copper. Radiographic studies showed occipital exostoses, bladder diverticula, tortuosity of peripheral veins, and osteoporosis. Lysyl oxidase activity was decreased in skin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8099605" 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="Tsukahara, M., Imaizumi, K., Kawai, S., Kajii, T. &lt;strong&gt;Occipital horn syndrome: report of a patient and review of the literature.&lt;/strong&gt; Clin. Genet. 45: 32-35, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8149649/&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;8149649&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1994.tb03986.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="8149649">Tsukahara et al. (1994)</a> described OHS in an 18-year-old Japanese boy. In addition to bilateral occipital exostosis, radiologic features were prominent mandibular angles, short and broad clavicles with 'hammer-shaped' distal ends, long bones with thin and undercalcified cortices, coalescence between the hamate and capitate bones and between the greater and lesser multiangular bones, and coxa valga. Since birth the patient had had chronic diarrhea (5-10 times/day) that did not respond to antidiarrheal drugs. <a href="#20" class="mim-tip-reference" title="Tsukahara, M., Imaizumi, K., Kawai, S., Kajii, T. &lt;strong&gt;Occipital horn syndrome: report of a patient and review of the literature.&lt;/strong&gt; Clin. Genet. 45: 32-35, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8149649/&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;8149649&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1994.tb03986.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="8149649">Tsukahara et al. (1994)</a> found reports of a total of 21 patients, all male. Mild manifestations were described in some of the mothers or aunts of patients (<a href="#7" class="mim-tip-reference" title="Herman, T. E., McAlister, W. H., Boniface, A., Whyte, M. P. &lt;strong&gt;Occipital horn syndrome: additional radiographic findings in two new cases.&lt;/strong&gt; Pediat. Radiol. 22: 363-365, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1408447/&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;1408447&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF02016258&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="1408447">Herman et al., 1992</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1408447+8149649" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a study of cultured cells from patients with EDS IX, <a href="#12" class="mim-tip-reference" title="Kuivaniemi, H., Peltonen, L., Kivirikko, K. I. &lt;strong&gt;Type IX Ehlers-Danlos syndrome and Menkes syndrome: the decrease in lysyl oxidase activity is associated with a corresponding deficiency in the enzyme protein.&lt;/strong&gt; Am. J. Hum. Genet. 37: 798-808, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9556668/&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;9556668&lt;/a&gt;]" pmid="9556668">Kuivaniemi et al. (1985)</a> could not demonstrate that there was secreted into the medium or contained in the cell any significant amounts of copper-deficient, catalytically inactive lysyl oxidase protein. Although the rapid degradation of a mutant protein could not be excluded, the authors favored the idea that synthesis of the lysyl oxidase protein is impaired. <a href="#16" class="mim-tip-reference" title="Levinson, B., Gitschier, J., Vulpe, C., Whitney, S., Yang, S., Packman, S. &lt;strong&gt;Are X-linked cutis laxa and Menkes disease allelic? (Letter)&lt;/strong&gt; Nature Genet. 3: 6, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8490656/&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;8490656&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0193-6&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="8490656">Levinson et al. (1993)</a> found a marked reduction in expression of a copper-transporting ATPase gene, which <a href="#21" class="mim-tip-reference" title="Vulpe, C., Levinson, B., Whitney, S., Packman, S., Gitschier, J. &lt;strong&gt;Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.&lt;/strong&gt; Nature Genet. 3: 7-13, 1993. Note: Erratum: Nature Genet. 3: 273 only, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8490659/&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;8490659&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0193-7&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="8490659">Vulpe et al. (1993)</a> had designated Mc1 and proposed as a candidate gene for Menkes disease, in Northern blots of RNA extracted from fibroblasts of 2 unrelated males with X-linked cutis laxa. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8490659+8490656+9556668" 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="Blackston, R. D., Hirschhorn, K., Elsas, L. J. &lt;strong&gt;Ehlers-Danlos syndrome (EDS), type IX: biochemical evidence for X-linkage. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 41: A49, 1987."None>Blackston et al. (1987)</a> studied copper storage and copper retention in females at risk of being heterozygous. In the mother of an affected male, they found in skin fibroblasts a level of total copper and a value for retention of copper that were outside the normal. The findings in a sister of the proband indicated that she was homozygous normal.</p><p><a href="#11" class="mim-tip-reference" title="Khakoo, A., Thomas, R., Trompeter, R., Duffy, P., Price, R., Pope, F. M. &lt;strong&gt;Congenital cutis laxa and lysyl oxidase deficiency.&lt;/strong&gt; Clin. Genet. 51: 109-114, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9111998/&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;9111998&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1997.tb02430.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="9111998">Khakoo et al. (1997)</a> reported 2 phenotypically similar patients with primary cutis laxa associated with deficiency of lysyl oxidase. Previous reports of congenital cutis laxa had concerned mainly the X-linked form of the disorder, which is characterized by typical occipital osseous projections and an abnormality of copper metabolism. The 2 patients reported by <a href="#11" class="mim-tip-reference" title="Khakoo, A., Thomas, R., Trompeter, R., Duffy, P., Price, R., Pope, F. M. &lt;strong&gt;Congenital cutis laxa and lysyl oxidase deficiency.&lt;/strong&gt; Clin. Genet. 51: 109-114, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9111998/&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;9111998&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1997.tb02430.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="9111998">Khakoo et al. (1997)</a> showed no occipital projections and had normal copper metabolism. Furthermore, they showed wormian bones, and the family pattern of inheritance was thought to be consistent with an autosomal recessive disorder. The first boy, 15 years old at the time of report, was born with unusually translucent wrinkled skin with prominent veins, generalized joint laxity, and a hooked nose. A large umbilical hernia was repaired at 3 months of age. Lysyl oxidase deficiency was demonstrated by study of cultured fibroblasts. Lax skin, generalized joint laxity, and blue sclerae were consistently noted. The ears were large with prominent lobes. At the age of 10, the skin had become thicker without residual translucency. Wormian bones were demonstrated in the lambdoid sutures and osteoporosis of the lumbar spine was found. The mother's lysyl oxidase levels were approximately half normal. The second boy was born to first-cousin parents of Pakistani origin. Again the skin was lax at birth and the nose hooked, the joints of the hands and feet were hypermobile, and wormian bones were demonstrated in the lambdoid sutures. There was an irreducible, translocated left hip. Lysyl oxidase activity was measured at 20% of normal. At 2 years of age, the patient developed acute renal failure, owing to a vesicoureteric obstruction causing gross bilateral hydroureters and hydronephrosis. Bladder atonicity was also present. The ears were large, and radiographs of the lumbar spine showed osteoporosis. Bilateral dislocatable shoulders were also present in this boy, who was 5 years old at the time of the report. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9111998" 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="Tang, J., Robertson, S., Lem, K. E., Godwin, S. C., Kaler, S. G. &lt;strong&gt;Functional copper transport explains neurologic sparing in occipital horn syndrome.&lt;/strong&gt; Genet. Med. 8: 711-718, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17108763/&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;17108763&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/01.gim.0000245578.94312.1e&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="17108763">Tang et al. (2006)</a> described 2 brothers with occipital horn syndrome. The proband had occipital horns bilaterally at age 4 years, short broad clavicles, broad and flat ilia, and dislocated radial heads. Both brothers had genu valgum; the proband required bilateral tibial osteotomies. Both brothers had coarse hair and hyperelastic skin but no dysmorphic facial features. The mother, who carried the mutation present in her sons, had had clubfoot requiring multiple surgeries as a young child. She had coarse hair and mild hyperextensibility of the metacarpophalangeal and interphalangeal joints, which was marked in her sons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17108763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Molecular Genetics</strong>
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<p><a href="#10" class="mim-tip-reference" title="Kaler, S. G., Gallo, L. K., Proud, V. K., Percy, A. K., Mark, Y., Segal, N. A., Goldstein, D. S., Holmes C. S., Gahl, W. A. &lt;strong&gt;Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus.&lt;/strong&gt; Nature Genet. 8: 195-202, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7842019/&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;7842019&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1094-195&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="7842019">Kaler et al. (1994)</a> reported a 15-year-old male with OHS who had an A-to-G change at base 2642 of the MNK locus, predicting a neutral glycine for serine substitution at nucleotide 833. Actually, this mutation at the -2 exonic position of a splice donor site caused exon skipping and activation of a cryptic splice acceptor site (<a href="/entry/300011#0002">300011.0002</a>). The authors suggested that maintenance of some normal splicing could explain the relatively mild phenotype of this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7842019" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with OHS, <a href="#15" class="mim-tip-reference" title="Levinson, B., Conant, R., Schnur, R., Das, S., Packman, S., Gitschier, J. &lt;strong&gt;A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome.&lt;/strong&gt; Hum. Molec. Genet. 5: 1737-1742, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8923001/&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;8923001&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/5.11.1737&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="8923001">Levinson et al. (1996)</a> identified a 98-bp deletion involving an upstream regulatory element of the MNK gene; see <a href="/entry/300011">300011</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8923001" 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="Tang, J., Robertson, S., Lem, K. E., Godwin, S. C., Kaler, S. G. &lt;strong&gt;Functional copper transport explains neurologic sparing in occipital horn syndrome.&lt;/strong&gt; Genet. Med. 8: 711-718, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17108763/&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;17108763&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/01.gim.0000245578.94312.1e&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="17108763">Tang et al. (2006)</a> described 2 brothers with occipital horn syndrome who had a missense mutation (N1304S; <a href="/entry/300011#0013">300011.0013</a>) that had 33% residual copper transport activity. Serum copper level was low, and ceruloplasmin was at the low end of normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17108763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="nomenclature" class="mim-anchor"></a>
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<strong>Nomenclature</strong>
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<p><a href="#17" class="mim-tip-reference" title="MacFarlane, J. D., Hollister, D. W., Weaver, D. D., Brandt, K. D., Luzzatti, L., Biegel, A. A. &lt;strong&gt;A new Ehlers-Danlos syndrome with skeletal dysplasia. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 32: 118A, 1980."None>MacFarlane et al. (1980)</a> suggested the designation Ehlers-Danlos syndrome type IX. It was suggested at a workshop convened in Berlin by <a href="#1" class="mim-tip-reference" title="Beighton, P. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Cape Town, South Africa 9/26/1986."None>Beighton (1986)</a> that this disorder be removed from the Ehlers-Danlos category (with the EDS IX number retired, as with MPS V and clotting factor IV) and instead be placed in a category of disorders with secondary changes in connective tissue due to a defect in copper metabolism.</p>
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<a id="seeAlso" class="mim-anchor"></a>
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<strong>See Also:</strong>
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<a href="#Byers1980" class="mim-tip-reference" title="Byers, P. H., Siegel, R. C., Holbrook, K. A., Narayanan, A. S., Bornstein, P., Hall, J. G. &lt;strong&gt;X-linked cutis laxa: defective collagen crosslink formation due to decreased lysyl oxidase activity.&lt;/strong&gt; New Eng. J. Med. 303: 61-65, 1980.">Byers et al. (1980)</a>
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<a id="1" class="mim-anchor"></a>
<a id="Beighton1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Beighton, P.
<strong>Personal Communication.</strong>
Cape Town, South Africa 9/26/1986.
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<a id="2" class="mim-anchor"></a>
<a id="Blackston1987" class="mim-anchor"></a>
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<p class="mim-text-font">
Blackston, R. D., Hirschhorn, K., Elsas, L. J.
<strong>Ehlers-Danlos syndrome (EDS), type IX: biochemical evidence for X-linkage. (Abstract)</strong>
Am. J. Hum. Genet. 41: A49, 1987.
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<a id="Byers1976" class="mim-anchor"></a>
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<p class="mim-text-font">
Byers, P. H., Narayanan, A. S., Bornstein, P., Hall, J. G.
<strong>An X-linked form of cutis laxa due to deficiency of lysyloxidase.</strong>
Birth Defects Orig. Art. Ser. 12(5): 293-298, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/953234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">953234</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=953234" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="4" class="mim-anchor"></a>
<a id="Byers1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Byers, P. H., Siegel, R. C., Holbrook, K. A., Narayanan, A. S., Bornstein, P., Hall, J. G.
<strong>X-linked cutis laxa: defective collagen crosslink formation due to decreased lysyl oxidase activity.</strong>
New Eng. J. Med. 303: 61-65, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6104292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6104292</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6104292" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM198007103030201" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
<a id="Das1995" class="mim-anchor"></a>
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Das, S., Levinson, B., Vulpe, C., Whitney, S., Gitschier, J., Packman, S.
<strong>Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.</strong>
Am. J. Hum. Genet. 56: 570-576, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7887410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7887410</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7887410" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="6" class="mim-anchor"></a>
<a id="Hall1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hall, J. G.
<strong>Personal Communication.</strong>
Seattle, Wash. 1980.
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<a id="7" class="mim-anchor"></a>
<a id="Herman1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Herman, T. E., McAlister, W. H., Boniface, A., Whyte, M. P.
<strong>Occipital horn syndrome: additional radiographic findings in two new cases.</strong>
Pediat. Radiol. 22: 363-365, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1408447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1408447</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1408447" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF02016258" target="_blank">Full Text</a>]
</p>
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<a id="8" class="mim-anchor"></a>
<a id="Hollister1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hollister, D. W.
<strong>Clinical features of Ehlers-Danlos syndrome types VIII and IX.In: Akeson, W.; Glimcher, M. J.; Bornstein, P. : Proceeding of the Workshop on Inherited Connective Tissue Disorders.</strong>
New York: Elsevier/North Holland Press (pub.) 1981.
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<a id="Kaitila1982" class="mim-anchor"></a>
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<p class="mim-text-font">
Kaitila, I. I., Peltonen, L., Kuivaniemi, H., Palotie, A., Elo, J., Kivirikko, K. I.
<strong>A skeletal and connective tissue disorder associated with lysyl oxidase deficiency and abnormal copper metabolism.In: Papadatos, C. J.; Bartsocas, C. S. : Skeletal Dysplasias.</strong>
New York: Alan R. Liss (pub.) 1982. Pp. 307-316.
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<a id="10" class="mim-anchor"></a>
<a id="Kaler1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kaler, S. G., Gallo, L. K., Proud, V. K., Percy, A. K., Mark, Y., Segal, N. A., Goldstein, D. S., Holmes C. S., Gahl, W. A.
<strong>Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus.</strong>
Nature Genet. 8: 195-202, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7842019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7842019</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7842019" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng1094-195" target="_blank">Full Text</a>]
</p>
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<a id="11" class="mim-anchor"></a>
<a id="Khakoo1997" class="mim-anchor"></a>
<div class="">
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Khakoo, A., Thomas, R., Trompeter, R., Duffy, P., Price, R., Pope, F. M.
<strong>Congenital cutis laxa and lysyl oxidase deficiency.</strong>
Clin. Genet. 51: 109-114, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9111998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9111998</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9111998" 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.1399-0004.1997.tb02430.x" target="_blank">Full Text</a>]
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<a id="Kuivaniemi1985" class="mim-anchor"></a>
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Kuivaniemi, H., Peltonen, L., Kivirikko, K. I.
<strong>Type IX Ehlers-Danlos syndrome and Menkes syndrome: the decrease in lysyl oxidase activity is associated with a corresponding deficiency in the enzyme protein.</strong>
Am. J. Hum. Genet. 37: 798-808, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9556668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9556668</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9556668" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="13" class="mim-anchor"></a>
<a id="Kuivaniemi1982" class="mim-anchor"></a>
<div class="">
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Kuivaniemi, H., Peltonen, L., Palotie, A., Kaitila, I., Kivirikko, K. I.
<strong>Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder.</strong>
J. Clin. Invest. 69: 730-733, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6120954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6120954</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6120954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1172/jci110503" target="_blank">Full Text</a>]
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<a id="Lazoff1975" class="mim-anchor"></a>
<div class="">
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Lazoff, S. G., Rybak, J. J., Parker, B. R., Luzzatti, L.
<strong>Skeletal dysplasia, occipital horns, intestinal malabsorption, and obstructive uropathy--a new hereditary syndrome.</strong>
Birth Defects Orig. Art. Ser. XI(5): 71-74, 1975.
</p>
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<a id="Levinson1996" class="mim-anchor"></a>
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Levinson, B., Conant, R., Schnur, R., Das, S., Packman, S., Gitschier, J.
<strong>A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome.</strong>
Hum. Molec. Genet. 5: 1737-1742, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8923001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8923001</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8923001" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/5.11.1737" target="_blank">Full Text</a>]
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<a id="Levinson1993" class="mim-anchor"></a>
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Levinson, B., Gitschier, J., Vulpe, C., Whitney, S., Yang, S., Packman, S.
<strong>Are X-linked cutis laxa and Menkes disease allelic? (Letter)</strong>
Nature Genet. 3: 6, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8490656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8490656</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8490656" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng0193-6" target="_blank">Full Text</a>]
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<a id="MacFarlane1980" class="mim-anchor"></a>
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MacFarlane, J. D., Hollister, D. W., Weaver, D. D., Brandt, K. D., Luzzatti, L., Biegel, A. A.
<strong>A new Ehlers-Danlos syndrome with skeletal dysplasia. (Abstract)</strong>
Am. J. Hum. Genet. 32: 118A, 1980.
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<a id="18" class="mim-anchor"></a>
<a id="Peltonen1983" class="mim-anchor"></a>
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Peltonen, L., Kuivaniemi, H., Palotie, A., Horn, N., Kaitila, I., Kivirikko, K. I.
<strong>Alterations in copper and collagen metabolism in the Menkes syndrome and a new subtype of the Ehlers-Danlos syndrome.</strong>
Biochemistry 22: 6156-6163, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6140952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6140952</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6140952" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1021/bi00295a018" target="_blank">Full Text</a>]
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<a id="Tang2006" class="mim-anchor"></a>
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Tang, J., Robertson, S., Lem, K. E., Godwin, S. C., Kaler, S. G.
<strong>Functional copper transport explains neurologic sparing in occipital horn syndrome.</strong>
Genet. Med. 8: 711-718, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17108763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17108763</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17108763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1097/01.gim.0000245578.94312.1e" target="_blank">Full Text</a>]
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<a id="Tsukahara1994" class="mim-anchor"></a>
<div class="">
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Tsukahara, M., Imaizumi, K., Kawai, S., Kajii, T.
<strong>Occipital horn syndrome: report of a patient and review of the literature.</strong>
Clin. Genet. 45: 32-35, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8149649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8149649</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8149649" 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.1399-0004.1994.tb03986.x" target="_blank">Full Text</a>]
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<a id="21" class="mim-anchor"></a>
<a id="Vulpe1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Vulpe, C., Levinson, B., Whitney, S., Packman, S., Gitschier, J.
<strong>Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.</strong>
Nature Genet. 3: 7-13, 1993. Note: Erratum: Nature Genet. 3: 273 only, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8490659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8490659</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8490659" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng0193-7" target="_blank">Full Text</a>]
</p>
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<a id="22" class="mim-anchor"></a>
<a id="Wakai1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wakai, S., Ishikawa, Y., Nagaoka, M., Okabe, M., Minami, R., Hayakawa, T.
<strong>Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlos type IX--a first Japanese case.</strong>
J. Neurol. Sci. 116: 1-5, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8099605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8099605</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8099605" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0022-510x(93)90081-9" target="_blank">Full Text</a>]
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<a id="contributors" class="mim-anchor"></a>
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Ada Hamosh - updated : 7/25/2007
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Anne M. Stumpf - updated : 5/23/2006<br>Moyra Smith - updated : 1/28/1997
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Victor A. McKusick : 6/4/1986
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carol : 12/20/2019
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alopez : 08/08/2012<br>alopez : 1/31/2012<br>alopez : 1/26/2012<br>terry : 10/12/2010<br>carol : 3/12/2010<br>carol : 1/21/2010<br>terry : 8/26/2008<br>alopez : 7/31/2007<br>terry : 7/25/2007<br>carol : 3/15/2007<br>alopez : 5/23/2006<br>mgross : 11/10/1999<br>carol : 11/24/1998<br>mark : 1/29/1997<br>terry : 1/28/1997<br>jamie : 1/7/1997<br>jamie : 1/6/1997<br>mark : 2/8/1996<br>joanna : 2/4/1996<br>mark : 3/29/1995<br>pfoster : 4/22/1994<br>terry : 4/21/1994<br>warfield : 4/19/1994<br>mimadm : 4/18/1994<br>carol : 4/15/1994
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<h3>
<span class="mim-font">
<strong>#</strong> 304150
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<span class="mim-font">
OCCIPITAL HORN SYNDROME; OHS
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<em>Alternative titles; symbols</em>
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CUTIS LAXA, X-LINKED, FORMERLY<br />
EHLERS-DANLOS SYNDROME, OCCIPITAL HORN TYPE, FORMERLY<br />
EDS IX, FORMERLY<br />
EDS9, FORMERLY
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<strong>SNOMEDCT:</strong> 59399004; &nbsp;
<strong>ORPHA:</strong> 198; &nbsp;
<strong>DO:</strong> 0111272; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
Xq21.1
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Occipital horn syndrome
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304150
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X-linked recessive
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3
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ATP7A
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300011
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because occipital horn syndrome (OHS) is caused by mutation in the ATP7A gene (300011) on chromosome Xq21. Menkes syndrome (309400) is caused by mutation in the same gene.</p>
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<strong>Description</strong>
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<p>Occipital horn syndrome (OHS) is a rare connective tissue disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, and multiple skeletal abnormalities. The disorder is sometimes accompanied by mild neurologic impairment, and bony abnormalities of the occiput are a common feature, giving rise to the name (summary by Das et al., 1995). </p>
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<strong>Clinical Features</strong>
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<p>Lazoff et al. (1975) described an unusual syndrome in an 11-year-old male and 2 maternal uncles. Bony 'horns,' symmetrically situated on each side of the foramen magnum and pointing caudad, were demonstrable radiographically. A lifelong history of frequent loose stools, obstructive uropathy requiring in 1 uncle ileal loop diversion, and mild mental retardation were other features. Some suspicion that a relative through the maternal grandfather had the same condition (which could not be confirmed because of lack of cooperation) meant that autosomal dominant inheritance with reduced penetrance could not be excluded.</p><p>Byers et al. (1976) found deficiency of lysyl oxidase in affected males in a family with apparent X-linked cutis laxa. Three affected males were observed, each in a different sibship connected through females who as children showed joint laxity but outgrew it. Hooked nose and long philtrum typical of cutis laxa were described. In 1 case, pectus excavatum and carinatum were sufficiently severe to require surgical repair shortly after birth. Two cousins were brought to medical attention because of recurrent urinary tract infection due to multiple large diverticula of the bladder. </p><p>MacFarlane et al. (1980) described 2 kindreds with an X-linked disorder that in general appeared to fall into the Ehlers-Danlos category but had some unusual features such as bladder diverticula, bladder neck obstruction, marked varicosities, and, by x-ray, occipital horns, short broad clavicles, and fused carpal bones. Hall (1980) found that the children studied with Byers et al. (1976) also had occipital horns, and diarrhea, a feature found in MacFarlane's families, was also present. Thus, these are probably the same disorder. The age at which the affected persons were studied may have been a factor in determining whether the disorder was labeled cutis laxa or EDS. Low levels of ceruloplasmin (117700) and serum copper were found in these cases, suggesting that, like Menkes syndrome, it may be a disorder of copper metabolism rather than a primary defect of lysyl oxidase. </p><p>Hollister (1981) pointed out that the patients show hypermobility of the finger joints but limitation of extension of the elbows.</p><p>Kuivaniemi et al. (1982) studied 2 brothers with bladder diverticula, inguinal hernias, slight skin laxity and hyperextensibility, and skeletal abnormalities, including occipital exostoses. Lysyl oxidase activity was low in the medium of cultured skin fibroblasts, and conversion of newly synthesized collagen into the insoluble form was reduced. Copper concentrations were markedly elevated in cultured skin fibroblasts but decreased in serum and hair. Serum ceruloplasmin levels were low. </p><p>Kaitila et al. (1982) suggested that this disorder may be allelic to Menkes disease.</p><p>Peltonen et al. (1983) found many similar abnormalities of copper and collagen metabolism in the cultured fibroblasts of 13 patients with Menkes syndrome and 2 patients with OHS (then called EDS IX). In both disorders, fibroblasts had markedly increased copper content and rate of incorporation of (64)Cu, and accumulation was in metallothionein or a metallothionein-like protein as previously established for Menkes cells. Histochemical staining showed that copper was distributed uniformly throughout the cytoplasm in both cell types, this location being consistent with accumulation in metallothionein. Both fibroblast types showed very low lysyl oxidase activity and increased extractability of newly synthesized collagen, but no abnormality in cell viability, duplication rate, prolyl 4-hydroxylase activity, or collagen synthesis rate. Skin biopsy specimens from one EDS IX patient showed the same abnormalities in lysyl oxidase activity and collagen extractability. Fibroblasts of the mother of EDS IX patients showed increased (64)Cu incorporation. </p><p>Allelism of occipital horn syndrome and Menkes syndrome was demonstrated in a definitive way by Das et al. (1995) who identified hemizygosity for a mutation in the copper-transporting ATPase that is mutant in Menkes syndrome. One of the mild mottled mutants in the mouse, 'blotchy,' symbolized Mo-blo, exhibits connective tissue abnormalities reminiscent of those seen in OHS patients, including weak skin and bone abnormalities. In blotchy males, hindlegs are occasionally deformed, vibrissae are kinked at birth, crosslinking of skin collagen and aortic elastin is defective, and death frequently results from aortic rupture. Das et al. (1995) identified similar splicing mutations in both the blotchy mouse and cases of the occipital horn syndrome. Das et al. (1995) reported 2 OHS patients in each of whom there was a deletion of 1 exon in the ATP7A gene; one deletion was caused by an A-to-G transition at the -4 position of the splice acceptor site 5-prime of the skipped exon, and the other deletion was caused by a G-to-A transition at the +5 splice donor site following the skipped exon. The first patient had presented to a genetics clinic at the age of 14 years for evaluation of musculoskeletal abnormalities and recurrent bladder rupture. In the neonatal period, mild hypotonia and, on radiographs, cranial contour abnormalities and wormian bones had been observed. There had been numerous orthopedic interventions, including osteotomies for leg straightening and treatment for multiple compression fractures of the vertebrae. Recurrent bladder rupture, bladder diverticula, vesicular calcium stones, and atonic bladder required intermittent catheterization. Examination showed dolichocephaly, prominent and simple ears, downslanting palpebral fissures with bilateral ptosis, dental crowding, pectus carinatum, cutis laxa, and muscle wasting. Neurologic status, including cognition, was normal. Serum ceruloplasmin was slightly low. Radiographs demonstrated osteopenia, dislocated radial heads, and characteristic occipital horns. Radiocopper accumulation in fibroblasts was elevated. The second patient presented to a medical genetics clinic at the age of 15 years, at which time he was wheelchair-bound because of genu valgum and coxa vara deformities. He was mentally retarded. The skin had a cobblestone appearance with hyperelasticity at the elbows and without skin friability. There was laxity of the interphalangeal joints with contractures at the elbows and knees. Serum ceruloplasmin and copper determinations were normal. Radiographs showed bilateral occipital horns. The large diverticula of the bladder were demonstrated. X-rays of the skeleton showed osteoporosis, fusion anomalies in the wrist, and dysplasia of the radius and ulna, with dislocation of the radius at the elbow. </p><p>That the occipital horn syndrome has ramifications beyond connective tissue is suggested by peculiarities of personality. Unlike patients with Menkes disease, most patients with OHS have mild mental retardation. Wakai et al. (1993) described the first Japanese case in a 34-year-old man who had psychomotor retardation and seizures since early childhood. At the time of study, he had severe mental retardation and generalized muscular atrophy, in addition to characteristic facial features, hyperelasticity of the skin, and joint subluxation. Laboratory studies demonstrated low serum copper and ceruloplasmin levels as well as intestinal nonabsorption of copper. Radiographic studies showed occipital exostoses, bladder diverticula, tortuosity of peripheral veins, and osteoporosis. Lysyl oxidase activity was decreased in skin. </p><p>Tsukahara et al. (1994) described OHS in an 18-year-old Japanese boy. In addition to bilateral occipital exostosis, radiologic features were prominent mandibular angles, short and broad clavicles with 'hammer-shaped' distal ends, long bones with thin and undercalcified cortices, coalescence between the hamate and capitate bones and between the greater and lesser multiangular bones, and coxa valga. Since birth the patient had had chronic diarrhea (5-10 times/day) that did not respond to antidiarrheal drugs. Tsukahara et al. (1994) found reports of a total of 21 patients, all male. Mild manifestations were described in some of the mothers or aunts of patients (Herman et al., 1992). </p><p>In a study of cultured cells from patients with EDS IX, Kuivaniemi et al. (1985) could not demonstrate that there was secreted into the medium or contained in the cell any significant amounts of copper-deficient, catalytically inactive lysyl oxidase protein. Although the rapid degradation of a mutant protein could not be excluded, the authors favored the idea that synthesis of the lysyl oxidase protein is impaired. Levinson et al. (1993) found a marked reduction in expression of a copper-transporting ATPase gene, which Vulpe et al. (1993) had designated Mc1 and proposed as a candidate gene for Menkes disease, in Northern blots of RNA extracted from fibroblasts of 2 unrelated males with X-linked cutis laxa. </p><p>Blackston et al. (1987) studied copper storage and copper retention in females at risk of being heterozygous. In the mother of an affected male, they found in skin fibroblasts a level of total copper and a value for retention of copper that were outside the normal. The findings in a sister of the proband indicated that she was homozygous normal.</p><p>Khakoo et al. (1997) reported 2 phenotypically similar patients with primary cutis laxa associated with deficiency of lysyl oxidase. Previous reports of congenital cutis laxa had concerned mainly the X-linked form of the disorder, which is characterized by typical occipital osseous projections and an abnormality of copper metabolism. The 2 patients reported by Khakoo et al. (1997) showed no occipital projections and had normal copper metabolism. Furthermore, they showed wormian bones, and the family pattern of inheritance was thought to be consistent with an autosomal recessive disorder. The first boy, 15 years old at the time of report, was born with unusually translucent wrinkled skin with prominent veins, generalized joint laxity, and a hooked nose. A large umbilical hernia was repaired at 3 months of age. Lysyl oxidase deficiency was demonstrated by study of cultured fibroblasts. Lax skin, generalized joint laxity, and blue sclerae were consistently noted. The ears were large with prominent lobes. At the age of 10, the skin had become thicker without residual translucency. Wormian bones were demonstrated in the lambdoid sutures and osteoporosis of the lumbar spine was found. The mother's lysyl oxidase levels were approximately half normal. The second boy was born to first-cousin parents of Pakistani origin. Again the skin was lax at birth and the nose hooked, the joints of the hands and feet were hypermobile, and wormian bones were demonstrated in the lambdoid sutures. There was an irreducible, translocated left hip. Lysyl oxidase activity was measured at 20% of normal. At 2 years of age, the patient developed acute renal failure, owing to a vesicoureteric obstruction causing gross bilateral hydroureters and hydronephrosis. Bladder atonicity was also present. The ears were large, and radiographs of the lumbar spine showed osteoporosis. Bilateral dislocatable shoulders were also present in this boy, who was 5 years old at the time of the report. </p><p>Tang et al. (2006) described 2 brothers with occipital horn syndrome. The proband had occipital horns bilaterally at age 4 years, short broad clavicles, broad and flat ilia, and dislocated radial heads. Both brothers had genu valgum; the proband required bilateral tibial osteotomies. Both brothers had coarse hair and hyperelastic skin but no dysmorphic facial features. The mother, who carried the mutation present in her sons, had had clubfoot requiring multiple surgeries as a young child. She had coarse hair and mild hyperextensibility of the metacarpophalangeal and interphalangeal joints, which was marked in her sons. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Kaler et al. (1994) reported a 15-year-old male with OHS who had an A-to-G change at base 2642 of the MNK locus, predicting a neutral glycine for serine substitution at nucleotide 833. Actually, this mutation at the -2 exonic position of a splice donor site caused exon skipping and activation of a cryptic splice acceptor site (300011.0002). The authors suggested that maintenance of some normal splicing could explain the relatively mild phenotype of this patient. </p><p>In a patient with OHS, Levinson et al. (1996) identified a 98-bp deletion involving an upstream regulatory element of the MNK gene; see 300011. </p><p>Tang et al. (2006) described 2 brothers with occipital horn syndrome who had a missense mutation (N1304S; 300011.0013) that had 33% residual copper transport activity. Serum copper level was low, and ceruloplasmin was at the low end of normal. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Nomenclature</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>MacFarlane et al. (1980) suggested the designation Ehlers-Danlos syndrome type IX. It was suggested at a workshop convened in Berlin by Beighton (1986) that this disorder be removed from the Ehlers-Danlos category (with the EDS IX number retired, as with MPS V and clotting factor IV) and instead be placed in a category of disorders with secondary changes in connective tissue due to a defect in copper metabolism.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Byers et al. (1980)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Beighton, P.
<strong>Personal Communication.</strong>
Cape Town, South Africa 9/26/1986.
</p>
</li>
<li>
<p class="mim-text-font">
Blackston, R. D., Hirschhorn, K., Elsas, L. J.
<strong>Ehlers-Danlos syndrome (EDS), type IX: biochemical evidence for X-linkage. (Abstract)</strong>
Am. J. Hum. Genet. 41: A49, 1987.
</p>
</li>
<li>
<p class="mim-text-font">
Byers, P. H., Narayanan, A. S., Bornstein, P., Hall, J. G.
<strong>An X-linked form of cutis laxa due to deficiency of lysyloxidase.</strong>
Birth Defects Orig. Art. Ser. 12(5): 293-298, 1976.
[PubMed: 953234]
</p>
</li>
<li>
<p class="mim-text-font">
Byers, P. H., Siegel, R. C., Holbrook, K. A., Narayanan, A. S., Bornstein, P., Hall, J. G.
<strong>X-linked cutis laxa: defective collagen crosslink formation due to decreased lysyl oxidase activity.</strong>
New Eng. J. Med. 303: 61-65, 1980.
[PubMed: 6104292]
[Full Text: https://doi.org/10.1056/NEJM198007103030201]
</p>
</li>
<li>
<p class="mim-text-font">
Das, S., Levinson, B., Vulpe, C., Whitney, S., Gitschier, J., Packman, S.
<strong>Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.</strong>
Am. J. Hum. Genet. 56: 570-576, 1995.
[PubMed: 7887410]
</p>
</li>
<li>
<p class="mim-text-font">
Hall, J. G.
<strong>Personal Communication.</strong>
Seattle, Wash. 1980.
</p>
</li>
<li>
<p class="mim-text-font">
Herman, T. E., McAlister, W. H., Boniface, A., Whyte, M. P.
<strong>Occipital horn syndrome: additional radiographic findings in two new cases.</strong>
Pediat. Radiol. 22: 363-365, 1992.
[PubMed: 1408447]
[Full Text: https://doi.org/10.1007/BF02016258]
</p>
</li>
<li>
<p class="mim-text-font">
Hollister, D. W.
<strong>Clinical features of Ehlers-Danlos syndrome types VIII and IX.In: Akeson, W.; Glimcher, M. J.; Bornstein, P. : Proceeding of the Workshop on Inherited Connective Tissue Disorders.</strong>
New York: Elsevier/North Holland Press (pub.) 1981.
</p>
</li>
<li>
<p class="mim-text-font">
Kaitila, I. I., Peltonen, L., Kuivaniemi, H., Palotie, A., Elo, J., Kivirikko, K. I.
<strong>A skeletal and connective tissue disorder associated with lysyl oxidase deficiency and abnormal copper metabolism.In: Papadatos, C. J.; Bartsocas, C. S. : Skeletal Dysplasias.</strong>
New York: Alan R. Liss (pub.) 1982. Pp. 307-316.
</p>
</li>
<li>
<p class="mim-text-font">
Kaler, S. G., Gallo, L. K., Proud, V. K., Percy, A. K., Mark, Y., Segal, N. A., Goldstein, D. S., Holmes C. S., Gahl, W. A.
<strong>Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus.</strong>
Nature Genet. 8: 195-202, 1994.
[PubMed: 7842019]
[Full Text: https://doi.org/10.1038/ng1094-195]
</p>
</li>
<li>
<p class="mim-text-font">
Khakoo, A., Thomas, R., Trompeter, R., Duffy, P., Price, R., Pope, F. M.
<strong>Congenital cutis laxa and lysyl oxidase deficiency.</strong>
Clin. Genet. 51: 109-114, 1997.
[PubMed: 9111998]
[Full Text: https://doi.org/10.1111/j.1399-0004.1997.tb02430.x]
</p>
</li>
<li>
<p class="mim-text-font">
Kuivaniemi, H., Peltonen, L., Kivirikko, K. I.
<strong>Type IX Ehlers-Danlos syndrome and Menkes syndrome: the decrease in lysyl oxidase activity is associated with a corresponding deficiency in the enzyme protein.</strong>
Am. J. Hum. Genet. 37: 798-808, 1985.
[PubMed: 9556668]
</p>
</li>
<li>
<p class="mim-text-font">
Kuivaniemi, H., Peltonen, L., Palotie, A., Kaitila, I., Kivirikko, K. I.
<strong>Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder.</strong>
J. Clin. Invest. 69: 730-733, 1982.
[PubMed: 6120954]
[Full Text: https://doi.org/10.1172/jci110503]
</p>
</li>
<li>
<p class="mim-text-font">
Lazoff, S. G., Rybak, J. J., Parker, B. R., Luzzatti, L.
<strong>Skeletal dysplasia, occipital horns, intestinal malabsorption, and obstructive uropathy--a new hereditary syndrome.</strong>
Birth Defects Orig. Art. Ser. XI(5): 71-74, 1975.
</p>
</li>
<li>
<p class="mim-text-font">
Levinson, B., Conant, R., Schnur, R., Das, S., Packman, S., Gitschier, J.
<strong>A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome.</strong>
Hum. Molec. Genet. 5: 1737-1742, 1996.
[PubMed: 8923001]
[Full Text: https://doi.org/10.1093/hmg/5.11.1737]
</p>
</li>
<li>
<p class="mim-text-font">
Levinson, B., Gitschier, J., Vulpe, C., Whitney, S., Yang, S., Packman, S.
<strong>Are X-linked cutis laxa and Menkes disease allelic? (Letter)</strong>
Nature Genet. 3: 6, 1993.
[PubMed: 8490656]
[Full Text: https://doi.org/10.1038/ng0193-6]
</p>
</li>
<li>
<p class="mim-text-font">
MacFarlane, J. D., Hollister, D. W., Weaver, D. D., Brandt, K. D., Luzzatti, L., Biegel, A. A.
<strong>A new Ehlers-Danlos syndrome with skeletal dysplasia. (Abstract)</strong>
Am. J. Hum. Genet. 32: 118A, 1980.
</p>
</li>
<li>
<p class="mim-text-font">
Peltonen, L., Kuivaniemi, H., Palotie, A., Horn, N., Kaitila, I., Kivirikko, K. I.
<strong>Alterations in copper and collagen metabolism in the Menkes syndrome and a new subtype of the Ehlers-Danlos syndrome.</strong>
Biochemistry 22: 6156-6163, 1983.
[PubMed: 6140952]
[Full Text: https://doi.org/10.1021/bi00295a018]
</p>
</li>
<li>
<p class="mim-text-font">
Tang, J., Robertson, S., Lem, K. E., Godwin, S. C., Kaler, S. G.
<strong>Functional copper transport explains neurologic sparing in occipital horn syndrome.</strong>
Genet. Med. 8: 711-718, 2006.
[PubMed: 17108763]
[Full Text: https://doi.org/10.1097/01.gim.0000245578.94312.1e]
</p>
</li>
<li>
<p class="mim-text-font">
Tsukahara, M., Imaizumi, K., Kawai, S., Kajii, T.
<strong>Occipital horn syndrome: report of a patient and review of the literature.</strong>
Clin. Genet. 45: 32-35, 1994.
[PubMed: 8149649]
[Full Text: https://doi.org/10.1111/j.1399-0004.1994.tb03986.x]
</p>
</li>
<li>
<p class="mim-text-font">
Vulpe, C., Levinson, B., Whitney, S., Packman, S., Gitschier, J.
<strong>Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.</strong>
Nature Genet. 3: 7-13, 1993. Note: Erratum: Nature Genet. 3: 273 only, 1993.
[PubMed: 8490659]
[Full Text: https://doi.org/10.1038/ng0193-7]
</p>
</li>
<li>
<p class="mim-text-font">
Wakai, S., Ishikawa, Y., Nagaoka, M., Okabe, M., Minami, R., Hayakawa, T.
<strong>Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlos type IX--a first Japanese case.</strong>
J. Neurol. Sci. 116: 1-5, 1993.
[PubMed: 8099605]
[Full Text: https://doi.org/10.1016/0022-510x(93)90081-9]
</p>
</li>
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Ada Hamosh - updated : 7/25/2007<br>Anne M. Stumpf - updated : 5/23/2006<br>Moyra Smith - updated : 1/28/1997
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