2826 lines
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Entry
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- #184840 - OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA
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- OMIM
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<p>
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<span class="h4">#184840</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/184840"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS184840"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#nomenclature">Nomenclature</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="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div><a href="https://clinicaltrials.gov/search?cond=OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=17618&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1302/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/6880" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/weissenbacher-zweymuller-syndrome" 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.ncbi.nlm.nih.gov/gtr/all/tests/?term=184840[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=166100" 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/df2f5985-1586-4b7e-8f77-855d0de1e832/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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080677" 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/184840" 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 id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 166100<br />
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<strong>DO:</strong> 0080677<br />
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">ICD+</a>
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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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184840
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA
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</span>
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</h3>
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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="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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OSMED, HETEROZYGOUS<br />
|
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WEISSENBACHER-ZWEYMULLER SYNDROME; WZS<br />
|
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PIERRE ROBIN SYNDROME WITH FETAL CHONDRODYSPLASIA STICKLER SYNDROME, NONOCULAR TYPE, FORMERLY<br />
|
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STICKLER SYNDROME, TYPE III, FORMERLY; STL3, FORMERLY
|
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</span>
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</h4>
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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="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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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">
|
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6p21.32
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</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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Otospondylomegaepiphyseal dysplasia, autosomal dominant
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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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<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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COL11A2
|
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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>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/184840" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS184840" class="btn btn-info" role="button"> Phenotypic Series </a>
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<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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/184840" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/184840" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
|
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<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>
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<div>
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </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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|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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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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<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 />
|
|
|
|
</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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 /> -
|
|
Cleft palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837218</a>, <a href="https://bioportal.bioontology.org/search?q=C2981150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2981150</a>, <a href="https://bioportal.bioontology.org/search?q=C2240378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240378</a>, <a href="https://bioportal.bioontology.org/search?q=C0008925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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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> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mild platyspondyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848999&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848999</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005752" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005752</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
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- Joint pain <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=C4085641&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4085641</a>, <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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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 /> -
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Large epiphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833328&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833328</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010580" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010580</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010580" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010580</a>]</span><br />
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Also called 'heterozygous OSMED' and 'autosomal dominant OSMED'<br />
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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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#0001">120290.0001</a>)<br />
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</span>
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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 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 class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<strong>Location</strong>
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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 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 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 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 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 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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</tr>
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</thead>
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<tbody>
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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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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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 class="mim-font">
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<a href="/entry/215150"> 215150 </a>
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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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<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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<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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<td>
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<span class="mim-font">
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<a href="/entry/120290"> COL11A2 </a>
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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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</tbody>
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</table>
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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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<br />
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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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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant otospondylomegaepiphyseal dysplasia (OSMEDA), also known as Weissenbacher-Zweymuller syndrome (WZS), is caused by heterozygous mutation in the COL11A2 gene (<a href="/entry/120290">120290</a>) on chromosome 6p21.</p><p>Autosomal recessive otospondylomegaepiphyseal dysplasia (OSMEDB; <a href="/entry/215150">215150</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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<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 deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by <a href="#2" class="mim-tip-reference" title="Giedion, A., Brandner, M., Lecannellier, J., Muhar, U., Prader, A., Sulzer, J., Zweymuller, E. <strong>Oto-spondylo-megaepiphyseal dysplasia (OSMED).</strong> Helv. Paediat. Acta 37: 361-380, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7153059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7153059</a>]" pmid="7153059">Giedion et al., 1982</a>). Some patients have osteoarthritis (<a href="#1" class="mim-tip-reference" title="Brunner, H. G., van Beersum, S. E. C., Warman, M. L., Olsen, B. R., Ropers, H.-H., Mariman, E. C. M. <strong>A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.</strong> Hum. Molec. Genet. 3: 1561-1564, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7833911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7833911</a>] [<a href="https://doi.org/10.1093/hmg/3.9.1561" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7833911">Brunner et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7153059+7833911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
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<br />
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<div>
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<a id="nomenclature" class="mim-anchor"></a>
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<h4 href="#mimNomenclatureFold" id="mimNomenclatureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimNomenclatureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Nomenclature</strong>
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</span>
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</h4>
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</div>
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<div id="mimNomenclatureFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#6" class="mim-tip-reference" title="Spranger, J. <strong>The type XI collagenopathies.</strong> Pediat. Radiol. 28: 745-750, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9799295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9799295</a>] [<a href="https://doi.org/10.1007/s002470050459" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9799295">Spranger (1998)</a> reviewed the findings of disorders caused by mutation in the COL11A2 gene. He concluded that Weissenbacher-Zweymuller syndrome and nonocular Stickler syndrome are the same disorder and suggested the designation heterozygous OSMED. <a href="#4" 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> likewise concluded that WZS and nonocular Stickler syndrome are identical and suggested that they be classified as the heterozygous type of OSMED. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9805126+9799295" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
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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="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>First described in 1964 as 'Pierre Robin syndrome with fetal chondrodysplasia,' the Weissenbacher-Zweymuller syndrome is characterized by neonatal micrognathia and rhizomelic chondrodysplasia with dumbbell-shaped femora and humeri, and regression of bone changes and normal growth in later years (<a href="#9" class="mim-tip-reference" title="Weissenbacher, G., Zweymuller, E. <strong>Gleichzeitiges Vorkommen eines Syndroms von Pierre Robin und einer fetalen Chondrodysplasie.</strong> Mschr. Kinderheilk. 112: 315-317, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14234962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14234962</a>]" pmid="14234962">Weissenbacher and Zweymuller, 1964</a>; <a href="#3" class="mim-tip-reference" title="Haller, J. O., Berdon, W. E., Robinow, M., Slovis, T. L., Baker, D. H., Johnson, G. F. <strong>The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth.</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 125: 936-943, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/813535/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">813535</a>] [<a href="https://doi.org/10.2214/ajr.125.4.936" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="813535">Haller et al., 1975</a>). Catch-up growth after 2-3 years is one of the striking features. The patient reported by <a href="#9" class="mim-tip-reference" title="Weissenbacher, G., Zweymuller, E. <strong>Gleichzeitiges Vorkommen eines Syndroms von Pierre Robin und einer fetalen Chondrodysplasie.</strong> Mschr. Kinderheilk. 112: 315-317, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14234962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14234962</a>]" pmid="14234962">Weissenbacher and Zweymuller (1964)</a> also had marked snub nose, cleft soft palate, glossoptosis, and hypognathia. <a href="#2" class="mim-tip-reference" title="Giedion, A., Brandner, M., Lecannellier, J., Muhar, U., Prader, A., Sulzer, J., Zweymuller, E. <strong>Oto-spondylo-megaepiphyseal dysplasia (OSMED).</strong> Helv. Paediat. Acta 37: 361-380, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7153059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7153059</a>]" pmid="7153059">Giedion et al. (1982)</a> provided follow-up on this patient (case D), who was then 18 years of age. He had developed sensorineural deafness at age 5. He had no eye abnormalities. Enlarged epiphyses was a prominent radiologic feature. <a href="#2" class="mim-tip-reference" title="Giedion, A., Brandner, M., Lecannellier, J., Muhar, U., Prader, A., Sulzer, J., Zweymuller, E. <strong>Oto-spondylo-megaepiphyseal dysplasia (OSMED).</strong> Helv. Paediat. Acta 37: 361-380, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7153059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7153059</a>]" pmid="7153059">Giedion et al. (1982)</a> reported 3 additional patients with a similar phenotype and proposed that the disorder be called otospondylomegaepiphyseal dysplasia (OSMED). He suggested autosomal recessive inheritance of the disorder because 2 of the patients were sibs. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7153059+14234962+813535" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Brunner, H. G., van Beersum, S. E. C., Warman, M. L., Olsen, B. R., Ropers, H.-H., Mariman, E. C. M. <strong>A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.</strong> Hum. Molec. Genet. 3: 1561-1564, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7833911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7833911</a>] [<a href="https://doi.org/10.1093/hmg/3.9.1561" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7833911">Brunner et al. (1994)</a> reported a large Dutch kindred in which 16 members had characteristic facial features of Stickler syndrome (see <a href="/entry/108300">108300</a>) in combination with hearing impairment. Cleft palate or mild arthropathy occurred in several patients, but ocular signs of Stickler syndrome (high myopia, vitreoretinal degeneration, and retinal detachment) were absent. Four of the affected individuals were born with the Pierre Robin sequence of micrognathia, glossoptosis, and cleft palate. More than half of affected family members reported painful joints, especially of the knees. Degenerative joint disease was documented radiographically in 3 individuals by x-ray of the spine and of the knees. Hearing loss was mostly high-tone perceptive and progressed slowly to involve all frequencies. Shortening of the fourth and fifth metatarsals was present in 2 affected members of the kindred. Both had been born with cleft palate and were considered severely affected. Shortening of the fifth metacarpals was also noted in 1 of them. All affected individuals were of normal stature, except 1 female who was just below the third percentile for height. A mild thorax deformity was noted in 4 cases (pectus excavatum in 2, and pectus carinatum in 2 others). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7833911" 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="#5" class="mim-tip-reference" title="Sirko-Osadsa, D. A., Murray, M. A., Scott, J. A., Lavery, M. A., Warman, M. L., Robin, N. H. <strong>Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha-2(XI) chain of type XI collagen.</strong> J. Pediat. 132: 368-371, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9506662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9506662</a>] [<a href="https://doi.org/10.1016/s0022-3476(98)70466-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9506662">Sirko-Osadsa et al. (1998)</a> described a family with features of Stickler syndrome but without eye involvement. Affected members of the family had sensorineural hearing loss, cleft palate/uvula, micrognathia, malar flattening, joint pains, and multiple hereditary exostoses. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9506662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Vuoristo, M. M., Pappas, J. G., Jansen, V., Ala-Kokko, L. <strong>A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome.</strong> Am. J. Med. Genet. 130A: 160-164, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15372529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15372529</a>] [<a href="https://doi.org/10.1002/ajmg.a.30111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15372529">Vuoristo et al. (2004)</a> described a 3-generation family in which several members were diagnosed with nonocular Stickler syndrome. Sensorineural hearing loss was present in all 3 generations. The propositus was a 4-year-old boy who had Robin sequence at birth. Both the propositus and his father had a flat malar area and nasal bridge, and the nose was upturned. The father had symptoms and radiologic findings of osteoarthritis from the age of 29 years. At age 73 years, the affected grandmother showed extensive osteoarthritic changes in the spine. Her father had undergone hip replacement in mid-adulthood. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15372529" 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>Studying a large Dutch kindred segregating a nonocular Stickler syndrome phenotype unlinked to COL2A1 (<a href="/entry/120140">120140</a>), <a href="#1" class="mim-tip-reference" title="Brunner, H. G., van Beersum, S. E. C., Warman, M. L., Olsen, B. R., Ropers, H.-H., Mariman, E. C. M. <strong>A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.</strong> Hum. Molec. Genet. 3: 1561-1564, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7833911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7833911</a>] [<a href="https://doi.org/10.1093/hmg/3.9.1561" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7833911">Brunner et al. (1994)</a> found close linkage with polymorphic markers from the 6p22-p21.3 region. The highest lod score was 4.36 without recombination with D6S276. Since the gene encoding the alpha-2 chain of type XI collagen (COL11A2) maps to the same region, <a href="#1" class="mim-tip-reference" title="Brunner, H. G., van Beersum, S. E. C., Warman, M. L., Olsen, B. R., Ropers, H.-H., Mariman, E. C. M. <strong>A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.</strong> Hum. Molec. Genet. 3: 1561-1564, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7833911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7833911</a>] [<a href="https://doi.org/10.1093/hmg/3.9.1561" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7833911">Brunner et al. (1994)</a> suggested that mutation in this collagen gene may be the explanation for Stickler syndrome in this and some other families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7833911" 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="#4" 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 (<a href="/entry/215150">215150</a>) forms due to heterozygous or homozygous mutations, respectively, in the COL11A2 gene. <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'})"><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 affected members of the large Dutch kindred with a Stickler syndrome-like phenotype reported by <a href="#1" class="mim-tip-reference" title="Brunner, H. G., van Beersum, S. E. C., Warman, M. L., Olsen, B. R., Ropers, H.-H., Mariman, E. C. M. <strong>A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.</strong> Hum. Molec. Genet. 3: 1561-1564, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7833911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7833911</a>] [<a href="https://doi.org/10.1093/hmg/3.9.1561" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7833911">Brunner et al. (1994)</a>, <a href="#7" 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 a heterozygous nonsense mutation in the COL11A2 gene (<a href="/entry/120290#0001">120290.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7859284+7833911" 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 affected members of a family with a diagnosis of nonocular Stickler syndrome, <a href="#5" class="mim-tip-reference" title="Sirko-Osadsa, D. A., Murray, M. A., Scott, J. A., Lavery, M. A., Warman, M. L., Robin, N. H. <strong>Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha-2(XI) chain of type XI collagen.</strong> J. Pediat. 132: 368-371, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9506662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9506662</a>] [<a href="https://doi.org/10.1016/s0022-3476(98)70466-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9506662">Sirko-Osadsa et al. (1998)</a> identified a heterozygous 27-bp deletion within exon 39 of the COL11A2 gene (<a href="/entry/120290#0003">120290.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9506662" 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 affected members of a 3-generation family with a diagnosis of nonocular Stickler syndrome, <a href="#8" class="mim-tip-reference" title="Vuoristo, M. M., Pappas, J. G., Jansen, V., Ala-Kokko, L. <strong>A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome.</strong> Am. J. Med. Genet. 130A: 160-164, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15372529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15372529</a>] [<a href="https://doi.org/10.1002/ajmg.a.30111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15372529">Vuoristo et al. (2004)</a> identified a heterozygous nonsense mutation in the COL11A2 gene (<a href="/entry/120290#0008">120290.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15372529" 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="#4" 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> analyzed DNA from the original patient reported by <a href="#9" class="mim-tip-reference" title="Weissenbacher, G., Zweymuller, E. <strong>Gleichzeitiges Vorkommen eines Syndroms von Pierre Robin und einer fetalen Chondrodysplasie.</strong> Mschr. Kinderheilk. 112: 315-317, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14234962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14234962</a>]" pmid="14234962">Weissenbacher and Zweymuller (1964)</a> for mutations in 2 candidate genes expressed in cartilage, COL2A1 (<a href="/entry/120140">120140</a>) and COL11A2 (<a href="/entry/120290">120290</a>). No mutations were found in the COL2A1 gene but the COL11A2 gene contained a single-base mutation that converted a codon for an obligate glycine to a codon for glutamate at position 955 in the alpha-2 chain (G955E; <a href="/entry/120290#0004">120290.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9805126+14234962" 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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Hum. Molec. Genet. 3: 1561-1564, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7833911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7833911</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7833911" 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/10.1093/hmg/3.9.1561" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="2" class="mim-anchor"></a>
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<a id="Giedion1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Giedion, A., Brandner, M., Lecannellier, J., Muhar, U., Prader, A., Sulzer, J., Zweymuller, E.
|
|
<strong>Oto-spondylo-megaepiphyseal dysplasia (OSMED).</strong>
|
|
Helv. Paediat. Acta 37: 361-380, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7153059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7153059</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7153059" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Haller1975" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Haller, J. O., Berdon, W. E., Robinow, M., Slovis, T. L., Baker, D. H., Johnson, G. F.
|
|
<strong>The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth.</strong>
|
|
Am. J. Roentgen. Radium Ther. Nucl. Med. 125: 936-943, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/813535/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">813535</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=813535" 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/10.2214/ajr.125.4.936" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Pihlajamaa1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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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.
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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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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Sirko-Osadsa1998" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Sirko-Osadsa, D. A., Murray, M. A., Scott, J. A., Lavery, M. A., Warman, M. L., Robin, N. H.
|
|
<strong>Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha-2(XI) chain of type XI collagen.</strong>
|
|
J. Pediat. 132: 368-371, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9506662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9506662</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9506662" 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/s0022-3476(98)70466-4" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Spranger1998" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
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Spranger, J.
|
|
<strong>The type XI collagenopathies.</strong>
|
|
Pediat. Radiol. 28: 745-750, 1998.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9799295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9799295</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9799295" 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/10.1007/s002470050459" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Vikkula1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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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.
|
|
<strong>Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.</strong>
|
|
Cell 80: 431-437, 1995.
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|
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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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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Vuoristo2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Vuoristo, M. M., Pappas, J. G., Jansen, V., Ala-Kokko, L.
|
|
<strong>A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome.</strong>
|
|
Am. J. Med. Genet. 130A: 160-164, 2004.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15372529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15372529</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15372529" 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.30111" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Weissenbacher1964" class="mim-anchor"></a>
|
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<div class="">
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<p class="mim-text-font">
|
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Weissenbacher, G., Zweymuller, E.
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|
<strong>Gleichzeitiges Vorkommen eines Syndroms von Pierre Robin und einer fetalen Chondrodysplasie.</strong>
|
|
Mschr. Kinderheilk. 112: 315-317, 1964.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14234962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14234962</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14234962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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</ol>
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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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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Carol A. Bocchini - updated : 07/18/2017
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Michael J. Wright - updated : 7/12/1999<br>Victor A. McKusick - updated : 12/3/1998<br>Moyra Smith - updated : 10/18/1996
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Victor A. McKusick : 7/13/1993
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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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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 06/21/2019
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/19/2017<br>carol : 07/18/2017<br>carol : 07/12/2017<br>carol : 08/03/2011<br>carol : 6/16/2000<br>carol : 4/17/2000<br>jlewis : 7/19/1999<br>terry : 7/12/1999<br>carol : 12/10/1998<br>terry : 12/3/1998<br>mark : 10/18/1996<br>mark : 10/18/1996<br>mimadm : 5/10/1995<br>carol : 2/24/1995<br>terry : 1/31/1995<br>carol : 7/13/1993
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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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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 184840
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA
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</span>
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</h3>
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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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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
OSMED, HETEROZYGOUS<br />
|
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WEISSENBACHER-ZWEYMULLER SYNDROME; WZS<br />
|
|
PIERRE ROBIN SYNDROME WITH FETAL CHONDRODYSPLASIA STICKLER SYNDROME, NONOCULAR TYPE, FORMERLY<br />
|
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STICKLER SYNDROME, TYPE III, FORMERLY; STL3, FORMERLY
|
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</span>
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</h4>
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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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<div>
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<p>
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 166100;
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<strong>DO:</strong> 0080677;
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</span>
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</p>
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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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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
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Location
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</th>
|
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<th>
|
|
Phenotype
|
|
</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
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<th>
|
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Gene/Locus
|
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</th>
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<th>
|
|
Gene/Locus <br /> MIM number
|
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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">
|
|
6p21.32
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Otospondylomegaepiphyseal dysplasia, autosomal dominant
|
|
</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
|
184840
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal dominant
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
3
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
COL11A2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
120290
|
|
</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>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>TEXT</strong>
|
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</span>
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</h4>
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<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because of evidence that autosomal dominant otospondylomegaepiphyseal dysplasia (OSMEDA), also known as Weissenbacher-Zweymuller syndrome (WZS), is caused by heterozygous mutation in the COL11A2 gene (120290) on chromosome 6p21.</p><p>Autosomal recessive otospondylomegaepiphyseal dysplasia (OSMEDB; 215150) is also caused by mutation in the COL11A2 gene.</p>
|
|
</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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<h4>
|
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<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
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<p>Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by Giedion et al., 1982). Some patients have osteoarthritis (Brunner et al., 1994). </p>
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<strong>Nomenclature</strong>
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<p>Spranger (1998) reviewed the findings of disorders caused by mutation in the COL11A2 gene. He concluded that Weissenbacher-Zweymuller syndrome and nonocular Stickler syndrome are the same disorder and suggested the designation heterozygous OSMED. Pihlajamaa et al. (1998) likewise concluded that WZS and nonocular Stickler syndrome are identical and suggested that they be classified as the heterozygous type of OSMED. </p>
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<strong>Clinical Features</strong>
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<p>First described in 1964 as 'Pierre Robin syndrome with fetal chondrodysplasia,' the Weissenbacher-Zweymuller syndrome is characterized by neonatal micrognathia and rhizomelic chondrodysplasia with dumbbell-shaped femora and humeri, and regression of bone changes and normal growth in later years (Weissenbacher and Zweymuller, 1964; Haller et al., 1975). Catch-up growth after 2-3 years is one of the striking features. The patient reported by Weissenbacher and Zweymuller (1964) also had marked snub nose, cleft soft palate, glossoptosis, and hypognathia. Giedion et al. (1982) provided follow-up on this patient (case D), who was then 18 years of age. He had developed sensorineural deafness at age 5. He had no eye abnormalities. Enlarged epiphyses was a prominent radiologic feature. Giedion et al. (1982) reported 3 additional patients with a similar phenotype and proposed that the disorder be called otospondylomegaepiphyseal dysplasia (OSMED). He suggested autosomal recessive inheritance of the disorder because 2 of the patients were sibs. </p><p>Brunner et al. (1994) reported a large Dutch kindred in which 16 members had characteristic facial features of Stickler syndrome (see 108300) in combination with hearing impairment. Cleft palate or mild arthropathy occurred in several patients, but ocular signs of Stickler syndrome (high myopia, vitreoretinal degeneration, and retinal detachment) were absent. Four of the affected individuals were born with the Pierre Robin sequence of micrognathia, glossoptosis, and cleft palate. More than half of affected family members reported painful joints, especially of the knees. Degenerative joint disease was documented radiographically in 3 individuals by x-ray of the spine and of the knees. Hearing loss was mostly high-tone perceptive and progressed slowly to involve all frequencies. Shortening of the fourth and fifth metatarsals was present in 2 affected members of the kindred. Both had been born with cleft palate and were considered severely affected. Shortening of the fifth metacarpals was also noted in 1 of them. All affected individuals were of normal stature, except 1 female who was just below the third percentile for height. A mild thorax deformity was noted in 4 cases (pectus excavatum in 2, and pectus carinatum in 2 others). </p><p>Sirko-Osadsa et al. (1998) described a family with features of Stickler syndrome but without eye involvement. Affected members of the family had sensorineural hearing loss, cleft palate/uvula, micrognathia, malar flattening, joint pains, and multiple hereditary exostoses. </p><p>Vuoristo et al. (2004) described a 3-generation family in which several members were diagnosed with nonocular Stickler syndrome. Sensorineural hearing loss was present in all 3 generations. The propositus was a 4-year-old boy who had Robin sequence at birth. Both the propositus and his father had a flat malar area and nasal bridge, and the nose was upturned. The father had symptoms and radiologic findings of osteoarthritis from the age of 29 years. At age 73 years, the affected grandmother showed extensive osteoarthritic changes in the spine. Her father had undergone hip replacement in mid-adulthood. </p>
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<strong>Mapping</strong>
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<p>Studying a large Dutch kindred segregating a nonocular Stickler syndrome phenotype unlinked to COL2A1 (120140), Brunner et al. (1994) found close linkage with polymorphic markers from the 6p22-p21.3 region. The highest lod score was 4.36 without recombination with D6S276. Since the gene encoding the alpha-2 chain of type XI collagen (COL11A2) maps to the same region, Brunner et al. (1994) suggested that mutation in this collagen gene may be the explanation for Stickler syndrome in this and some other families. </p>
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<strong>Inheritance</strong>
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<p>Pihlajamaa et al. (1998) proposed that OSMED occurs in both autosomal dominant and autosomal recessive (215150) forms due to heterozygous or homozygous mutations, respectively, in the COL11A2 gene. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of the large Dutch kindred with a Stickler syndrome-like phenotype reported by Brunner et al. (1994), Vikkula et al. (1995) identified a heterozygous nonsense mutation in the COL11A2 gene (120290.0001). </p><p>In affected members of a family with a diagnosis of nonocular Stickler syndrome, Sirko-Osadsa et al. (1998) identified a heterozygous 27-bp deletion within exon 39 of the COL11A2 gene (120290.0003). </p><p>In affected members of a 3-generation family with a diagnosis of nonocular Stickler syndrome, Vuoristo et al. (2004) identified a heterozygous nonsense mutation in the COL11A2 gene (120290.0008). </p><p>Pihlajamaa et al. (1998) analyzed DNA from the original patient reported by Weissenbacher and Zweymuller (1964) for mutations in 2 candidate genes expressed in cartilage, COL2A1 (120140) and COL11A2 (120290). No mutations were found in the COL2A1 gene but the COL11A2 gene contained a single-base mutation that converted a codon for an obligate glycine to a codon for glutamate at position 955 in the alpha-2 chain (G955E; 120290.0004). </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p />
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<p class="mim-text-font">
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Brunner, H. G., van Beersum, S. E. C., Warman, M. L., Olsen, B. R., Ropers, H.-H., Mariman, E. C. M.
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<strong>A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.</strong>
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Hum. Molec. Genet. 3: 1561-1564, 1994.
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[PubMed: 7833911]
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[Full Text: https://doi.org/10.1093/hmg/3.9.1561]
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<p class="mim-text-font">
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Giedion, A., Brandner, M., Lecannellier, J., Muhar, U., Prader, A., Sulzer, J., Zweymuller, E.
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<strong>Oto-spondylo-megaepiphyseal dysplasia (OSMED).</strong>
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Helv. Paediat. Acta 37: 361-380, 1982.
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[PubMed: 7153059]
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<li>
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<p class="mim-text-font">
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Haller, J. O., Berdon, W. E., Robinow, M., Slovis, T. L., Baker, D. H., Johnson, G. F.
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<strong>The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth.</strong>
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Am. J. Roentgen. Radium Ther. Nucl. Med. 125: 936-943, 1975.
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[PubMed: 813535]
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[Full Text: https://doi.org/10.2214/ajr.125.4.936]
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<p class="mim-text-font">
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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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Sirko-Osadsa, D. A., Murray, M. A., Scott, J. A., Lavery, M. A., Warman, M. L., Robin, N. H.
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<strong>Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha-2(XI) chain of type XI collagen.</strong>
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J. Pediat. 132: 368-371, 1998.
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[PubMed: 9506662]
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[Full Text: https://doi.org/10.1016/s0022-3476(98)70466-4]
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<p class="mim-text-font">
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Spranger, J.
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<strong>The type XI collagenopathies.</strong>
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Pediat. Radiol. 28: 745-750, 1998.
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[PubMed: 9799295]
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[Full Text: https://doi.org/10.1007/s002470050459]
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<li>
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<p class="mim-text-font">
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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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Vuoristo, M. M., Pappas, J. G., Jansen, V., Ala-Kokko, L.
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<strong>A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome.</strong>
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Am. J. Med. Genet. 130A: 160-164, 2004.
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[PubMed: 15372529]
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[Full Text: https://doi.org/10.1002/ajmg.a.30111]
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Weissenbacher, G., Zweymuller, E.
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<strong>Gleichzeitiges Vorkommen eines Syndroms von Pierre Robin und einer fetalen Chondrodysplasie.</strong>
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Mschr. Kinderheilk. 112: 315-317, 1964.
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[PubMed: 14234962]
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Carol A. Bocchini - updated : 07/18/2017<br>Michael J. Wright - updated : 7/12/1999<br>Victor A. McKusick - updated : 12/3/1998<br>Moyra Smith - updated : 10/18/1996
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