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<title>
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Entry
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- #215150 - OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE; OSMEDB
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- OMIM
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<span class="h4">#215150</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/phenotypicSeries/PS184840"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE) OR (COL11A2)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1633&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/otospondylomegaepiphyseal-dysplasia" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1427" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/2ff7626d-96d0-41db-85fe-79475698039a/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080026" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/215150" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA001772/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 1427<br />
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<strong>DO:</strong> 0080026<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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215150
|
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</span>
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</span>
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<div>
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<h3>
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OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE; OSMEDB
|
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</span>
|
|
</h3>
|
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</div>
|
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<div>
|
|
<br />
|
|
</div>
|
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|
|
|
<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">
|
|
OSMED<br />
|
|
CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS<br />
|
|
NANCE-INSLEY SYNDROME<br />
|
|
NANCE-SWEENEY CHONDRODYSPLASIA<br />
|
|
WEISSENBACHER-ZWEYMULLER SYNDROME, FORMERLY; WZS, FORMERLY
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
|
|
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|
</div>
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|
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|
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|
|
|
|
|
|
<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/6/383?start=-3&limit=10&highlight=383">
|
|
6p21.32
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Otospondylomegaepiphyseal dysplasia, autosomal recessive
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/215150"> 215150 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
COL11A2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120290"> 120290 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/215150" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS184840" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/215150" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/215150" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Small jaw <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Micrognathia-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Midface hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853242&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853242</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011800</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011800</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=f0adae8ae2dc0ad9ed28c3c3e0e8f8a9" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Midface_Retrusion-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=f0adae8ae2dc0ad9ed28c3c3e0e8f8a9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Sensorineural hearing loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br /> -
|
|
Mixed hearing loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/77507001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">77507001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.8</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.20</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0155552&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0155552</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000410" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000410</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000410" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000410</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- No ocular symptoms <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859105&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859105</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Anteverted nares <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/708670007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">708670007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840077&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840077</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=656ef0aca7742d97c5769f51f0dd56de" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Nares,Anteverted-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=656ef0aca7742d97c5769f51f0dd56de" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Bulbous nasal tip <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855751&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855751</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000414" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000414</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000414" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000414</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=50ff569bd76b9a6cd5dba7aabce89564" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Nose,Bulbous-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=50ff569bd76b9a6cd5dba7aabce89564" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
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</span>
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</div>
|
|
</div>
|
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cleft palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837218</a>, <a href="https://bioportal.bioontology.org/search?q=C2981150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2981150</a>, <a href="https://bioportal.bioontology.org/search?q=C2240378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240378</a>, <a href="https://bioportal.bioontology.org/search?q=C0008925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br /> -
|
|
Pierre-Robin sequence <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4602007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4602007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q87.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q87.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0031900&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0031900</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000201" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000201</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000201" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000201</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
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|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Lung </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Recurrent pulmonary infections <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859117&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859117</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006532" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006532</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006532" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006532</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
</div>
|
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|
|
</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Epiphyseal dysplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254080004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254080004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392476&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392476</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002656" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002656</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002656" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002656</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">
|
|
|
|
- Mandibular hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</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">
|
|
|
|
- Increased lumbar lordosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/313471000119104" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">313471000119104</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1184923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1184923</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002938</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002938</a>]</span><br /> -
|
|
Vertebral coronal clefts (newborn) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859106&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859106</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003417</a>]</span><br /> -
|
|
Enlarged odontoid (childhood) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859107&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859107</a>]</span><br /> -
|
|
Platyspondyly (childhood) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849030&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849030</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000926" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000926</a>]</span><br /> -
|
|
Anterior vertebral wedging (childhood) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859108&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859108</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">
|
|
|
|
- Square iliac wings <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859109&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859109</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">
|
|
|
|
- Premature osteoarthritis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835121&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835121</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003088" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003088</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003088" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003088</a>]</span><br /> -
|
|
Joint contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7890003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7890003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/718.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.4</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/718.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009918&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009918</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034392" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034392</a>]</span><br /> -
|
|
Joint pains <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57676002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57676002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M25.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M25.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/719.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.40</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/719.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003862&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003862</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002829</a>]</span><br /> -
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Enlarged Joints <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859111&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859111</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003037" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003037</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003037" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003037</a>]</span><br /> -
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Dumbbell-shaped femurs (newborn) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150272&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150272</a>]</span><br /> -
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Short long bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854912&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854912</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003026" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003026</a>]</span><br /> -
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Absent-small capital femoral epiphyses (infancy-early childhood) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859113&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859113</a>]</span><br /> -
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Wide flat epiphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859114&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859114</a>]</span><br /> -
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Metaphyseal flaring <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850135&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850135</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003015</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003015</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Hands </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Short hands <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4552108&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4552108</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004279" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004279</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004279" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004279</a>]</span><br /> -
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Short fingers <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249765007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249765007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239594&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239594</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009381" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009381</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009381" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009381</a>]</span><br /> -
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Short metacarpals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837084&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837084</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010049</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010049</a>]</span><br /> -
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Prominent interphalangeal joints <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859115&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859115</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006237" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006237</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006237" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006237</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Feet </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Large tarsal bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859116&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859116</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004679" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004679</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004679" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004679</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the collagen XI, alpha-2 polypeptide gene (COL11A2, <a href="/entry/120290#0002">120290.0002</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
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Otospondylomegaepiphyseal dysplasia
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- <a href="/phenotypicSeries/PS184840">PS184840</a>
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- 2 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />mapping key</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Gene/Locus<br />MIM number</strong>
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/6/383?start=-3&limit=10&highlight=383"> 6p21.32 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/215150"> Otospondylomegaepiphyseal dysplasia, autosomal recessive </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/215150"> 215150 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/120290"> COL11A2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/120290"> 120290 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/6/383?start=-3&limit=10&highlight=383"> 6p21.32 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/184840"> Otospondylomegaepiphyseal dysplasia, autosomal dominant </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/184840"> 184840 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/120290"> COL11A2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/120290"> 120290 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div class="text-right small">
|
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive otospondylomegaepiphyseal dysplasia (OSMEDB), also known as Nance-Insley syndrome, is caused by homozygous or compound heterozygous mutation in the COL11A2 gene (<a href="/entry/120290">120290</a>) on chromosome 6p21.</p><p>Autosomal dominant otospondylomegaepiphyseal dysplasia (OSMEDA; <a href="/entry/184840">184840</a>) is also caused by mutation in the COL11A2 gene.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural hearing loss, enlarged epiphyses, disproportionate shortness of the limbs, abnormalities in vertebral bodies, and typical facial features (summary by <a href="#4" class="mim-tip-reference" title="Harel, T., Rabinowitz, R., Hendler, N., Galil, A., Flusser, H., Chemke, J., Gradstein, L., Lifshitz, T., Ofir, R., Elbedour, K., Birk, O. S. <strong>COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).</strong> Am. J. Med. Genet. 132A: 33-35, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15558753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15558753</a>] [<a href="https://doi.org/10.1002/ajmg.a.30371" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15558753">Harel et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15558753" 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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</span>
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<div>
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<br />
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</div>
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</div>
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<p>Affected kindreds were reported by <a href="#8" class="mim-tip-reference" title="Nance, W. E., Sweeney, A. <strong>A recessively inherited chondrodystrophy.</strong> Birth Defects Orig. Art. Ser. VI(4): 25-27, 1970."None>Nance and Sweeney (1970)</a> and by <a href="#5" class="mim-tip-reference" title="Insley, J., Astley, R. <strong>A bone dysplasia with deafness.</strong> Brit. J. Radiol. 47: 244-251, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4830146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4830146</a>] [<a href="https://doi.org/10.1259/0007-1285-47-557-244" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4830146">Insley and Astley (1974)</a>. The adult height of Nance and Sweeney's patient was 51 inches. The nasal bridge was markedly sunken. Superficially the appearance suggested achondroplasia, but clearly it was a different condition. Platyspondyly and progressive fusion of carpal bones were noted. Deafness was progressive and severe. <a href="#8" class="mim-tip-reference" title="Nance, W. E., Sweeney, A. <strong>A recessively inherited chondrodystrophy.</strong> Birth Defects Orig. Art. Ser. VI(4): 25-27, 1970."None>Nance and Sweeney (1970)</a> observed several affected sibs and their female cousins. <a href="#5" class="mim-tip-reference" title="Insley, J., Astley, R. <strong>A bone dysplasia with deafness.</strong> Brit. J. Radiol. 47: 244-251, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4830146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4830146</a>] [<a href="https://doi.org/10.1259/0007-1285-47-557-244" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4830146">Insley and Astley (1974)</a> described 2 affected sisters. <a href="#6" class="mim-tip-reference" title="Miny, P., Lenz, W. <strong>Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome.</strong> Am. J. Med. Genet. 21: 317-324, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4014313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4014313</a>] [<a href="https://doi.org/10.1002/ajmg.1320210214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4014313">Miny and Lenz (1985)</a> reported 2 affected sibs in a Turkish family with consanguineous parents. <a href="#12" class="mim-tip-reference" title="Salinas, C. F., de Botero, D., Isaza, C. <strong>Bone dysplasia, deafness and cleft palate syndrome. (Abstract)</strong> 7th International Congress of Human Genetics, Berlin 1986. P. 259."None>Salinas et al. (1986)</a> also observed parental consanguinity. They described affected brothers and emphasized cleft palate as a feature. The mode of inheritance would seem to differentiate this disorder from the Stickler syndrome (<a href="/entry/108300">108300</a>). In addition, the epiphyses are abnormally large in this disorder, whereas they are small in Stickler syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4014313+4830146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>On the basis of 5 new patients from 3 families and an analysis of previously reported cases with a diagnosis of Weissenbacher-Zweymuller syndrome (WZS; see <a href="/entry/184850">184850</a>), <a href="#2" class="mim-tip-reference" title="Chemke, J., Carmi, R., Galil, A., Bar-Ziv, Y., Ben-Ytzhak, I., Zurkowski, L. <strong>Weissenbacher-Zweymuller syndrome: a distinct autosomal recessive skeletal dysplasia.</strong> Am. J. Med. Genet. 43: 989-995, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1415350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1415350</a>] [<a href="https://doi.org/10.1002/ajmg.1320430616" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1415350">Chemke et al. (1992)</a> concluded that this is a distinct disorder of delayed skeletal maturation, different from Stickler syndrome, and inherited as an autosomal recessive trait. Myopia and retinal detachment are characteristics of Stickler syndrome that are not found in WZS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1415350" 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="#7" class="mim-tip-reference" title="Moore, S. J., Ladda, R. L., Mowrey, P. N., Mascari, M. J., Ramer, J. C. <strong>Weissenbacher-Zweymuller syndrome in monozygous twins with neural tube defects and septo-optic dysplasia. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A56 only, 1989."None>Moore et al. (1989)</a> and <a href="#10" class="mim-tip-reference" title="Ramer, J. C., Eggli, K., Rogan, P. K., Ladda, R. L. <strong>Identical twins with Weissenbacher-Zweymuller syndrome and neural tube defect.</strong> Am. J. Med. Genet. 45: 614-618, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8456835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8456835</a>] [<a href="https://doi.org/10.1002/ajmg.1320450520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8456835">Ramer et al. (1993)</a> described monozygotic male twins with skeletal findings typical of WZS, including small size at birth, proximal limb shortness, midface hypoplasia, and myopia. In addition, 1 twin had a parietal-occipital encephalocele, while the other had a meningocele at the same location. One twin had hearing loss and significant delays in development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8456835" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Galil, A., Carmi, R., Goldstein, E., Porter, B., Bar Ziv, J., Chemke, J. <strong>Weissenbacher-Zweymuller syndrome: long-term follow-up of growth and psychomotor development.</strong> Dev. Med. Child Neurol. 33: 1104-1109, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1723388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1723388</a>] [<a href="https://doi.org/10.1111/j.1469-8749.1991.tb14834.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1723388">Galil et al. (1991)</a> described the physical, motor, cognitive, and academic development of a child with WZS from birth to the age of 8 years and suggested a more favorable prognosis for both physical and psychomotor development than previously reported. Birth length was 44 cm, with rhizomelic shortening of the lower limbs. Facial features included micrognathia with mild glossoptosis, slightly protruding eyes, hypertelorism, depressed nasal bridge, and submucous cleft of the soft palate. The femurs were short, with widening of the metaphyses of the long bones. Coronal cleft of lumbar vertebrae was noted. By age 2 years, only a minor widening of the long bones was still apparent; by age 8 years, there were no abnormal radiographic features. At the age of 8, he was at the 10th percentile for height. Motor development was delayed in the first 18 months because of severe truncal hypotonia and mild hypotonia of the legs. At the age of 5 years, both gross and fine motor performance were within normal limits. Myopia was found at age 2 years and combined sensory and conductive hearing loss at the age of 3. <a href="#3" class="mim-tip-reference" title="Galil, A., Carmi, R., Goldstein, E., Porter, B., Bar Ziv, J., Chemke, J. <strong>Weissenbacher-Zweymuller syndrome: long-term follow-up of growth and psychomotor development.</strong> Dev. Med. Child Neurol. 33: 1104-1109, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1723388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1723388</a>] [<a href="https://doi.org/10.1111/j.1469-8749.1991.tb14834.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1723388">Galil et al. (1991)</a> suggested that WZS is not a dysplasia, but a disease of connective tissue resulting in delayed maturation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1723388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Rosser, E. M., Hall, C. M., Harper, J., Lacour, M., Baraitser, M. <strong>Nance-Sweeney chondrodysplasia--a further case?</strong> Clin. Dysmorph. 5: 207-212, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8818448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8818448</a>]" pmid="8818448">Rosser et al. (1996)</a> found a similar association of skeletal abnormalities, cleft palate, subcutaneous calcifications, and sensorineural deafness in a 15-month-old girl. They proposed the designation Nance-Sweeney chondrodysplasia to describe the condition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8818448" 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 Dutch family with OSMED reported by <a href="#15" class="mim-tip-reference" title="Vikkula, M., Mariman, E. C. M., Lui, V. C. H., Zhidkova, N. I., Tiller, G. E., Goldring, M. B., van Beersum, S. E. C., de Waal Malefijt, M. C., van den Hoogen, F. H. J., Ropers, H.-H., Mayne, R., Cheah, K. S. E., Olsen, B. R., Warman, M. L., Brunner, H. G. <strong>Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.</strong> Cell 80: 431-437, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7859284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7859284</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90493-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7859284">Vikkula et al. (1995)</a>, 3 affected sibs had typical features of the disorder but did not have cleft palate, which is present in more than half of the cases of OSMED. The sibs presented in early adulthood with severe degenerative joint disease of the osteoarthritis type affecting predominantly the hips, knees, elbows, and shoulders. The spine was less severely affected, and adult height was only slightly below that of the unaffected sibs. There was increased lumbar lordosis and prominent interphalangeal joints. Short fifth metacarpals were found in all 3. The patients had distinctive facial features: midface hypoplasia with a short upturned nose, prominent eyes, depressed nasal bridge, and prominent supraorbital ridges. Sensorineural hearing loss was present from birth and required the use of hearing aids in all 3. None had myopia or vitreoretinal degeneration. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7859284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Temtamy, S. A., Mannikko, M., Abdel-Salam, G. M. H., Hassan, N. A., Ala-Kokko, L., Afifi, H. H. <strong>Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.</strong> Am. J. Med. Genet. 140A: 1189-1195, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16637051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16637051</a>] [<a href="https://doi.org/10.1002/ajmg.a.31205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16637051">Temtamy et al. (2006)</a> described a brother and sister with genetically confirmed OSMED. The sibs had disproportionate short stature and short limbs, distinct face with midface hypoplasia, short nose, depressed nasal bridge, long philtrum, and nonprogressive sensorineural deafness. Radiologic examination revealed short long bones and large epiphyses with metaphyseal flaring and mild platyspondyly and coronal clefting. The first-cousin parents were heterozygous for the deletion; the father, who had repeated episodes of unilateral otitis media 2 years previously, was found to have mild unilateral nonprogressive sensorineural hearing loss. A younger brother was unaffected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16637051" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a Dutch family with 3 sibs, the offspring of fourth-cousin parents, who were affected with a syndrome reported as OSMED, <a href="#15" class="mim-tip-reference" title="Vikkula, M., Mariman, E. C. M., Lui, V. C. H., Zhidkova, N. I., Tiller, G. E., Goldring, M. B., van Beersum, S. E. C., de Waal Malefijt, M. C., van den Hoogen, F. H. J., Ropers, H.-H., Mayne, R., Cheah, K. S. E., Olsen, B. R., Warman, M. L., Brunner, H. G. <strong>Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.</strong> Cell 80: 431-437, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7859284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7859284</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90493-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7859284">Vikkula et al. (1995)</a> demonstrated linkage to the 6p21 region, where the COL11A2 gene (<a href="/entry/120290">120290</a>) had been mapped. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7859284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 3 affected sibs in a Dutch family with OSMED, <a href="#15" class="mim-tip-reference" title="Vikkula, M., Mariman, E. C. M., Lui, V. C. H., Zhidkova, N. I., Tiller, G. E., Goldring, M. B., van Beersum, S. E. C., de Waal Malefijt, M. C., van den Hoogen, F. H. J., Ropers, H.-H., Mayne, R., Cheah, K. S. E., Olsen, B. R., Warman, M. L., Brunner, H. G. <strong>Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.</strong> Cell 80: 431-437, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7859284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7859284</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90493-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7859284">Vikkula et al. (1995)</a> identified homozygosity for a missense mutation in the COL11A2 gene (<a href="/entry/120290#0002">120290.0002</a>) as the cause of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7859284" 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 brother and sister with OSMED, <a href="#13" class="mim-tip-reference" title="Temtamy, S. A., Mannikko, M., Abdel-Salam, G. M. H., Hassan, N. A., Ala-Kokko, L., Afifi, H. H. <strong>Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.</strong> Am. J. Med. Genet. 140A: 1189-1195, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16637051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16637051</a>] [<a href="https://doi.org/10.1002/ajmg.a.31205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16637051">Temtamy et al. (2006)</a> identified homozygosity for a 1-bp deletion in the COL11A2 gene (<a href="/entry/120290#0011">120290.0011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16637051" 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="#9" class="mim-tip-reference" title="Pihlajamaa, T., Prockop, D. J., Faber, J., Winterpacht, A., Zabel, B., Giedion, A., Wiesbauer, P., Spranger, J., Ala-Kokko, L. <strong>Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymuller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).</strong> Am. J. Med. Genet. 80: 115-120, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9805126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9805126</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19981102)80:2<115::aid-ajmg5>3.0.co;2-o" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9805126">Pihlajamaa et al. (1998)</a> proposed that OSMED occurs in both autosomal dominant and autosomal recessive forms due to heterozygous or homozygous mutations, respectively, in the COL11A2 gene. The recessive form is represented by cases in which <a href="#15" class="mim-tip-reference" title="Vikkula, M., Mariman, E. C. M., Lui, V. C. H., Zhidkova, N. I., Tiller, G. E., Goldring, M. B., van Beersum, S. E. C., de Waal Malefijt, M. C., van den Hoogen, F. H. J., Ropers, H.-H., Mayne, R., Cheah, K. S. E., Olsen, B. R., Warman, M. L., Brunner, H. G. <strong>Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.</strong> Cell 80: 431-437, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7859284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7859284</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90493-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7859284">Vikkula et al. (1995)</a> demonstrated a COL11A2 mutation (<a href="/entry/120290#0002">120290.0002</a>) and the cases of <a href="#5" class="mim-tip-reference" title="Insley, J., Astley, R. <strong>A bone dysplasia with deafness.</strong> Brit. J. Radiol. 47: 244-251, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4830146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4830146</a>] [<a href="https://doi.org/10.1259/0007-1285-47-557-244" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4830146">Insley and Astley (1974)</a> and others. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7859284+4830146+9805126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Chemke1990" class="mim-tip-reference" title="Chemke, J., Carmi, R., Bar-Ziv, J. <strong>The Weissenbacher-Zweymuller syndrome: a unique syndrome of delayed osseous maturation. (Abstract)</strong> Am. J. Hum. Genet. 47 (suppl.): A51 only, 1990.">Chemke et al. (1990)</a>; <a href="#van1997" class="mim-tip-reference" title="van Steensel, M. A. M., Buma, P., de Waal Malefijt, M. C., van den Hoogen, F. H. J., Brunner, H. G. <strong>Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.</strong> Am. J. Med. Genet. 70: 315-323, 1997.">van Steensel et al. (1997)</a>
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Chemke, J., Carmi, R., Bar-Ziv, J.
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<strong>The Weissenbacher-Zweymuller syndrome: a unique syndrome of delayed osseous maturation. (Abstract)</strong>
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Am. J. Hum. Genet. 47 (suppl.): A51 only, 1990.
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Chemke, J., Carmi, R., Galil, A., Bar-Ziv, Y., Ben-Ytzhak, I., Zurkowski, L.
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<strong>Weissenbacher-Zweymuller syndrome: a distinct autosomal recessive skeletal dysplasia.</strong>
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Am. J. Med. Genet. 43: 989-995, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1415350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1415350</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1415350" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320430616" target="_blank">Full Text</a>]
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Galil, A., Carmi, R., Goldstein, E., Porter, B., Bar Ziv, J., Chemke, J.
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<strong>Weissenbacher-Zweymuller syndrome: long-term follow-up of growth and psychomotor development.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1723388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1723388</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1723388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1469-8749.1991.tb14834.x" target="_blank">Full Text</a>]
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Harel, T., Rabinowitz, R., Hendler, N., Galil, A., Flusser, H., Chemke, J., Gradstein, L., Lifshitz, T., Ofir, R., Elbedour, K., Birk, O. S.
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<strong>COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).</strong>
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Am. J. Med. Genet. 132A: 33-35, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15558753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15558753</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15558753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30371" target="_blank">Full Text</a>]
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Insley, J., Astley, R.
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<strong>A bone dysplasia with deafness.</strong>
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Brit. J. Radiol. 47: 244-251, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4830146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4830146</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4830146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1259/0007-1285-47-557-244" target="_blank">Full Text</a>]
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Miny, P., Lenz, W.
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<strong>Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome.</strong>
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Am. J. Med. Genet. 21: 317-324, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4014313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4014313</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4014313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320210214" target="_blank">Full Text</a>]
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Moore, S. J., Ladda, R. L., Mowrey, P. N., Mascari, M. J., Ramer, J. C.
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<strong>Weissenbacher-Zweymuller syndrome in monozygous twins with neural tube defects and septo-optic dysplasia. (Abstract)</strong>
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Am. J. Hum. Genet. 45 (suppl.): A56 only, 1989.
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Nance, W. E., Sweeney, A.
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<strong>A recessively inherited chondrodystrophy.</strong>
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Birth Defects Orig. Art. Ser. VI(4): 25-27, 1970.
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Pihlajamaa, T., Prockop, D. J., Faber, J., Winterpacht, A., Zabel, B., Giedion, A., Wiesbauer, P., Spranger, J., Ala-Kokko, L.
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<strong>Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymuller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).</strong>
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Am. J. Med. Genet. 80: 115-120, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9805126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9805126</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9805126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19981102)80:2<115::aid-ajmg5>3.0.co;2-o" target="_blank">Full Text</a>]
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<a id="Ramer1993" class="mim-anchor"></a>
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Ramer, J. C., Eggli, K., Rogan, P. K., Ladda, R. L.
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<strong>Identical twins with Weissenbacher-Zweymuller syndrome and neural tube defect.</strong>
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Am. J. Med. Genet. 45: 614-618, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8456835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8456835</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8456835" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320450520" target="_blank">Full Text</a>]
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Rosser, E. M., Hall, C. M., Harper, J., Lacour, M., Baraitser, M.
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<strong>Nance-Sweeney chondrodysplasia--a further case?</strong>
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Clin. Dysmorph. 5: 207-212, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8818448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8818448</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8818448" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Salinas, C. F., de Botero, D., Isaza, C.
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<strong>Bone dysplasia, deafness and cleft palate syndrome. (Abstract)</strong>
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7th International Congress of Human Genetics, Berlin 1986. P. 259.
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Temtamy, S. A., Mannikko, M., Abdel-Salam, G. M. H., Hassan, N. A., Ala-Kokko, L., Afifi, H. H.
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<strong>Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.</strong>
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Am. J. Med. Genet. 140A: 1189-1195, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16637051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16637051</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16637051" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.31205" target="_blank">Full Text</a>]
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van Steensel, M. A. M., Buma, P., de Waal Malefijt, M. C., van den Hoogen, F. H. J., Brunner, H. G.
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<strong>Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.</strong>
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Am. J. Med. Genet. 70: 315-323, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9188673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9188673</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9188673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19970613)70:3<315::aid-ajmg19>3.3.co;2-y" target="_blank">Full Text</a>]
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Vikkula, M., Mariman, E. C. M., Lui, V. C. H., Zhidkova, N. I., Tiller, G. E., Goldring, M. B., van Beersum, S. E. C., de Waal Malefijt, M. C., van den Hoogen, F. H. J., Ropers, H.-H., Mayne, R., Cheah, K. S. E., Olsen, B. R., Warman, M. L., Brunner, H. G.
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<strong>Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.</strong>
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Cell 80: 431-437, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7859284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7859284</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7859284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0092-8674(95)90493-x" target="_blank">Full Text</a>]
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Carol A. Bocchini - updated : 07/18/2017
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Marla J. F. O'Neill - updated : 10/11/2006<br>Victor A. McKusick - updated : 2/14/2006<br>Victor A. McKusick - updated : 12/3/1998<br>Iosif W. Lurie - updated : 9/13/1996
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Victor A. McKusick : 6/3/1986
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carol : 07/19/2017
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carol : 07/18/2017<br>carol : 05/17/2017<br>carol : 05/16/2017<br>carol : 08/05/2016<br>carol : 11/23/2015<br>carol : 8/6/2015<br>wwang : 10/12/2006<br>terry : 10/11/2006<br>alopez : 2/27/2006<br>terry : 2/14/2006<br>mgross : 4/12/2000<br>carol : 12/10/1998<br>terry : 12/3/1998<br>carol : 9/13/1996<br>carol : 2/24/1995<br>warfield : 4/15/1994<br>mimadm : 2/19/1994<br>supermim : 3/16/1992<br>supermim : 5/19/1990<br>supermim : 3/20/1990
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<strong>#</strong> 215150
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OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE; OSMEDB
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OSMED<br />
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CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS<br />
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NANCE-INSLEY SYNDROME<br />
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NANCE-SWEENEY CHONDRODYSPLASIA<br />
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WEISSENBACHER-ZWEYMULLER SYNDROME, FORMERLY; WZS, FORMERLY
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<strong>ORPHA:</strong> 1427;
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<strong>DO:</strong> 0080026;
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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 <br /> MIM number
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6p21.32
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Otospondylomegaepiphyseal dysplasia, autosomal recessive
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<span class="mim-font">
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215150
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Autosomal recessive
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<span class="mim-font">
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3
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COL11A2
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120290
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive otospondylomegaepiphyseal dysplasia (OSMEDB), also known as Nance-Insley syndrome, is caused by homozygous or compound heterozygous mutation in the COL11A2 gene (120290) on chromosome 6p21.</p><p>Autosomal dominant otospondylomegaepiphyseal dysplasia (OSMEDA; 184840) is also caused by mutation in the COL11A2 gene.</p>
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<strong>Description</strong>
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<p>Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural hearing loss, enlarged epiphyses, disproportionate shortness of the limbs, abnormalities in vertebral bodies, and typical facial features (summary by Harel et al., 2005). </p>
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<strong>Clinical Features</strong>
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<p>Affected kindreds were reported by Nance and Sweeney (1970) and by Insley and Astley (1974). The adult height of Nance and Sweeney's patient was 51 inches. The nasal bridge was markedly sunken. Superficially the appearance suggested achondroplasia, but clearly it was a different condition. Platyspondyly and progressive fusion of carpal bones were noted. Deafness was progressive and severe. Nance and Sweeney (1970) observed several affected sibs and their female cousins. Insley and Astley (1974) described 2 affected sisters. Miny and Lenz (1985) reported 2 affected sibs in a Turkish family with consanguineous parents. Salinas et al. (1986) also observed parental consanguinity. They described affected brothers and emphasized cleft palate as a feature. The mode of inheritance would seem to differentiate this disorder from the Stickler syndrome (108300). In addition, the epiphyses are abnormally large in this disorder, whereas they are small in Stickler syndrome. </p><p>On the basis of 5 new patients from 3 families and an analysis of previously reported cases with a diagnosis of Weissenbacher-Zweymuller syndrome (WZS; see 184850), Chemke et al. (1992) concluded that this is a distinct disorder of delayed skeletal maturation, different from Stickler syndrome, and inherited as an autosomal recessive trait. Myopia and retinal detachment are characteristics of Stickler syndrome that are not found in WZS. </p><p>Moore et al. (1989) and Ramer et al. (1993) described monozygotic male twins with skeletal findings typical of WZS, including small size at birth, proximal limb shortness, midface hypoplasia, and myopia. In addition, 1 twin had a parietal-occipital encephalocele, while the other had a meningocele at the same location. One twin had hearing loss and significant delays in development. </p><p>Galil et al. (1991) described the physical, motor, cognitive, and academic development of a child with WZS from birth to the age of 8 years and suggested a more favorable prognosis for both physical and psychomotor development than previously reported. Birth length was 44 cm, with rhizomelic shortening of the lower limbs. Facial features included micrognathia with mild glossoptosis, slightly protruding eyes, hypertelorism, depressed nasal bridge, and submucous cleft of the soft palate. The femurs were short, with widening of the metaphyses of the long bones. Coronal cleft of lumbar vertebrae was noted. By age 2 years, only a minor widening of the long bones was still apparent; by age 8 years, there were no abnormal radiographic features. At the age of 8, he was at the 10th percentile for height. Motor development was delayed in the first 18 months because of severe truncal hypotonia and mild hypotonia of the legs. At the age of 5 years, both gross and fine motor performance were within normal limits. Myopia was found at age 2 years and combined sensory and conductive hearing loss at the age of 3. Galil et al. (1991) suggested that WZS is not a dysplasia, but a disease of connective tissue resulting in delayed maturation. </p><p>Rosser et al. (1996) found a similar association of skeletal abnormalities, cleft palate, subcutaneous calcifications, and sensorineural deafness in a 15-month-old girl. They proposed the designation Nance-Sweeney chondrodysplasia to describe the condition. </p><p>In a Dutch family with OSMED reported by Vikkula et al. (1995), 3 affected sibs had typical features of the disorder but did not have cleft palate, which is present in more than half of the cases of OSMED. The sibs presented in early adulthood with severe degenerative joint disease of the osteoarthritis type affecting predominantly the hips, knees, elbows, and shoulders. The spine was less severely affected, and adult height was only slightly below that of the unaffected sibs. There was increased lumbar lordosis and prominent interphalangeal joints. Short fifth metacarpals were found in all 3. The patients had distinctive facial features: midface hypoplasia with a short upturned nose, prominent eyes, depressed nasal bridge, and prominent supraorbital ridges. Sensorineural hearing loss was present from birth and required the use of hearing aids in all 3. None had myopia or vitreoretinal degeneration. </p><p>Temtamy et al. (2006) described a brother and sister with genetically confirmed OSMED. The sibs had disproportionate short stature and short limbs, distinct face with midface hypoplasia, short nose, depressed nasal bridge, long philtrum, and nonprogressive sensorineural deafness. Radiologic examination revealed short long bones and large epiphyses with metaphyseal flaring and mild platyspondyly and coronal clefting. The first-cousin parents were heterozygous for the deletion; the father, who had repeated episodes of unilateral otitis media 2 years previously, was found to have mild unilateral nonprogressive sensorineural hearing loss. A younger brother was unaffected. </p>
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<strong>Mapping</strong>
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<p>In a Dutch family with 3 sibs, the offspring of fourth-cousin parents, who were affected with a syndrome reported as OSMED, Vikkula et al. (1995) demonstrated linkage to the 6p21 region, where the COL11A2 gene (120290) had been mapped. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>In 3 affected sibs in a Dutch family with OSMED, Vikkula et al. (1995) identified homozygosity for a missense mutation in the COL11A2 gene (120290.0002) as the cause of the disorder. </p><p>In a brother and sister with OSMED, Temtamy et al. (2006) identified homozygosity for a 1-bp deletion in the COL11A2 gene (120290.0011). </p>
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<strong>Inheritance</strong>
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<span class="mim-text-font">
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<p>Pihlajamaa et al. (1998) proposed that OSMED occurs in both autosomal dominant and autosomal recessive forms due to heterozygous or homozygous mutations, respectively, in the COL11A2 gene. The recessive form is represented by cases in which Vikkula et al. (1995) demonstrated a COL11A2 mutation (120290.0002) and the cases of Insley and Astley (1974) and others. </p>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Chemke et al. (1990); van Steensel et al. (1997)
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<span class="mim-font">
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<strong>REFERENCES</strong>
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<div>
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<p />
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</div>
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<ol>
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<p class="mim-text-font">
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Chemke, J., Carmi, R., Bar-Ziv, J.
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<strong>The Weissenbacher-Zweymuller syndrome: a unique syndrome of delayed osseous maturation. (Abstract)</strong>
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Am. J. Hum. Genet. 47 (suppl.): A51 only, 1990.
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</p>
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<li>
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<p class="mim-text-font">
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Chemke, J., Carmi, R., Galil, A., Bar-Ziv, Y., Ben-Ytzhak, I., Zurkowski, L.
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<strong>Weissenbacher-Zweymuller syndrome: a distinct autosomal recessive skeletal dysplasia.</strong>
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Am. J. Med. Genet. 43: 989-995, 1992.
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[PubMed: 1415350]
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[Full Text: https://doi.org/10.1002/ajmg.1320430616]
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<li>
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<p class="mim-text-font">
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Galil, A., Carmi, R., Goldstein, E., Porter, B., Bar Ziv, J., Chemke, J.
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<strong>Weissenbacher-Zweymuller syndrome: long-term follow-up of growth and psychomotor development.</strong>
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Dev. Med. Child Neurol. 33: 1104-1109, 1991.
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[PubMed: 1723388]
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[Full Text: https://doi.org/10.1111/j.1469-8749.1991.tb14834.x]
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<p class="mim-text-font">
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Harel, T., Rabinowitz, R., Hendler, N., Galil, A., Flusser, H., Chemke, J., Gradstein, L., Lifshitz, T., Ofir, R., Elbedour, K., Birk, O. S.
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<strong>COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).</strong>
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Am. J. Med. Genet. 132A: 33-35, 2005.
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[PubMed: 15558753]
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[Full Text: https://doi.org/10.1002/ajmg.a.30371]
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Insley, J., Astley, R.
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<strong>A bone dysplasia with deafness.</strong>
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Brit. J. Radiol. 47: 244-251, 1974.
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[PubMed: 4830146]
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[Full Text: https://doi.org/10.1259/0007-1285-47-557-244]
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Miny, P., Lenz, W.
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<strong>Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome.</strong>
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Am. J. Med. Genet. 21: 317-324, 1985.
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[PubMed: 4014313]
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[Full Text: https://doi.org/10.1002/ajmg.1320210214]
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Moore, S. J., Ladda, R. L., Mowrey, P. N., Mascari, M. J., Ramer, J. C.
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<strong>Weissenbacher-Zweymuller syndrome in monozygous twins with neural tube defects and septo-optic dysplasia. (Abstract)</strong>
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Am. J. Hum. Genet. 45 (suppl.): A56 only, 1989.
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</p>
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<p class="mim-text-font">
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Nance, W. E., Sweeney, A.
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<strong>A recessively inherited chondrodystrophy.</strong>
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Birth Defects Orig. Art. Ser. VI(4): 25-27, 1970.
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Pihlajamaa, T., Prockop, D. J., Faber, J., Winterpacht, A., Zabel, B., Giedion, A., Wiesbauer, P., Spranger, J., Ala-Kokko, L.
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<strong>Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymuller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).</strong>
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Am. J. Med. Genet. 80: 115-120, 1998.
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[PubMed: 9805126]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(19981102)80:2<115::aid-ajmg5>3.0.co;2-o]
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<p class="mim-text-font">
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Ramer, J. C., Eggli, K., Rogan, P. K., Ladda, R. L.
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<strong>Identical twins with Weissenbacher-Zweymuller syndrome and neural tube defect.</strong>
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Am. J. Med. Genet. 45: 614-618, 1993.
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[PubMed: 8456835]
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[Full Text: https://doi.org/10.1002/ajmg.1320450520]
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Rosser, E. M., Hall, C. M., Harper, J., Lacour, M., Baraitser, M.
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<strong>Nance-Sweeney chondrodysplasia--a further case?</strong>
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Clin. Dysmorph. 5: 207-212, 1996.
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[PubMed: 8818448]
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<p class="mim-text-font">
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Salinas, C. F., de Botero, D., Isaza, C.
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<strong>Bone dysplasia, deafness and cleft palate syndrome. (Abstract)</strong>
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7th International Congress of Human Genetics, Berlin 1986. P. 259.
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Temtamy, S. A., Mannikko, M., Abdel-Salam, G. M. H., Hassan, N. A., Ala-Kokko, L., Afifi, H. H.
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<strong>Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.</strong>
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Am. J. Med. Genet. 140A: 1189-1195, 2006.
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[PubMed: 16637051]
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[Full Text: https://doi.org/10.1002/ajmg.a.31205]
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van Steensel, M. A. M., Buma, P., de Waal Malefijt, M. C., van den Hoogen, F. H. J., Brunner, H. G.
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<strong>Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.</strong>
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Am. J. Med. Genet. 70: 315-323, 1997.
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[PubMed: 9188673]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(19970613)70:3<315::aid-ajmg19>3.3.co;2-y]
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Vikkula, M., Mariman, E. C. M., Lui, V. C. H., Zhidkova, N. I., Tiller, G. E., Goldring, M. B., van Beersum, S. E. C., de Waal Malefijt, M. C., van den Hoogen, F. H. J., Ropers, H.-H., Mayne, R., Cheah, K. S. E., Olsen, B. R., Warman, M. L., Brunner, H. G.
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<strong>Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.</strong>
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Cell 80: 431-437, 1995.
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[PubMed: 7859284]
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[Full Text: https://doi.org/10.1016/0092-8674(95)90493-x]
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Carol A. Bocchini - updated : 07/18/2017<br>Marla J. F. O'Neill - updated : 10/11/2006<br>Victor A. McKusick - updated : 2/14/2006<br>Victor A. McKusick - updated : 12/3/1998<br>Iosif W. Lurie - updated : 9/13/1996
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Victor A. McKusick : 6/3/1986
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