4162 lines
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Entry
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- #132400 - EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1
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- OMIM
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<p>
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<span class="h4">#132400</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/132400"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS132400"> <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="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#heterogeneity">Heterogeneity</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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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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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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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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</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 class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=EPIPHYSEAL DYSPLASIA, MULTIPLE" 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=12245&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/NBK1123/" 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.ncbi.nlm.nih.gov/gtr/all/tests/?term=132400[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=93308" 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/db527c12-d51d-4897-ac27-941cca2e5a3a/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>
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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:0070303" 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/132400" 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/OMIA001790/" 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>
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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="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>SNOMEDCT:</strong> 715673002<br />
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<strong>ORPHA:</strong> 93308<br />
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<strong>DO:</strong> 0070303<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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132400
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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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EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1
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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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MULTIPLE EPIPHYSEAL DYSPLASIA, COMP-RELATED
|
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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="includedTitles" 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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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
|
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<span class="h3 mim-font">
|
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EPIPHYSEAL DYSPLASIA, FAIRBANK TYPE, INCLUDED
|
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</span>
|
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</div>
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<div>
|
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<span class="h4 mim-font">
|
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EPIPHYSEAL DYSPLASIA, RIBBING TYPE, INCLUDED
|
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</span>
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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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<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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<span class="mim-font">
|
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<a href="/geneMap/19/473?start=-3&limit=10&highlight=473">
|
|
19p13.11
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Epiphyseal dysplasia, multiple, 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/132400"> 132400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
COMP
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600310"> 600310 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/132400" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS132400" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/132400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/132400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature, mild to moderate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3149232&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3149232</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br /> -
|
|
Dwarfism, mild short-limb <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3149248&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3149248</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>]</span><br /> -
|
|
Final adult height 145-170cm <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851539&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851539</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Generalized joint laxity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836308&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836308</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002761</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002761</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">
|
|
|
|
- Ovoid vertebral bodies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855665&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855665</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003300</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003300</a>]</span><br /> -
|
|
Mild irregularity of vertebral endplates <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851541</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pelvis </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Avascular necrosis of femoral head <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/203476003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">203476003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0410480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0410480</a>]</span><br /> -
|
|
Limited hip movement <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851542&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851542</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008800</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008800</a>]</span><br /> -
|
|
Broad, short femoral neck <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866512&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866512</a>]</span><br /> -
|
|
Hip osteoarthritis (early-onset) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851543</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/239872002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">239872002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M16.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M16.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M16" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M16</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008843" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008843</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">
|
|
|
|
- Late ossifying epiphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833001&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833001</a>]</span><br /> -
|
|
Small, irregular epiphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837489&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837489</a>]</span><br /> -
|
|
Genua valga <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299330008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299330008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.06" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.06</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0576093&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0576093</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002857" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002857</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002857" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002857</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short metacarpals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837084&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837084</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010049</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010049</a>]</span><br /> -
|
|
Short phalanges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0877165&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0877165</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009803" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009803</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009803" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009803</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </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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- Genetic heterogeneity (see EDM2 <a href="/entry/600204">600204</a>, EDM3 <a href="/entry/600969">600969</a>, EDM4 <a href="/entry/226900">226900</a>, EDM5 <a href="/entry/607078">607078</a>) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><br /> -
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Allelic to pseudoachondroplasia (<a href="/entry/177170">177170</a>)<br /> -
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Hip joint replacement often necessary<br /> -
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Symptoms usually manifest in childhood including waddling gait and painful, stiff joints<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">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in cartilage oligomeric matrix protein (COMP, <a href="/entry/600310#0005">600310.0005</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
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Epiphyseal dysplasia, multiple
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- <a href="/phenotypicSeries/PS132400">PS132400</a>
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- 7 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />mapping key</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus<br />MIM number</strong>
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/487?start=-3&limit=10&highlight=487"> 1p34.2 </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/600204"> Epiphyseal dysplasia, multiple, 2 </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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|
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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/600204"> 600204 </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/120260"> COL9A2 </a>
|
|
</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/120260"> 120260 </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/2/72?start=-3&limit=10&highlight=72"> 2p24.1 </a>
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|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/607078"> Epiphyseal dysplasia, multiple, 5 </a>
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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|
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</span>
|
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</td>
|
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<td>
|
|
<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>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607078"> 607078 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602109"> MATN3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602109"> 602109 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/658?start=-3&limit=10&highlight=658"> 5q32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/226900"> Epiphyseal dysplasia, multiple, 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/226900"> 226900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606718"> SLC26A2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606718"> 606718 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/632?start=-3&limit=10&highlight=632"> 6q13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614135"> ?Epiphyseal dysplasia, multiple, 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614135"> 614135 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120210"> COL9A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120210"> 120210 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/1004?start=-3&limit=10&highlight=1004"> 17q25.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617719"> Epiphyseal dysplasia, multiple, 7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617719"> 617719 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613165"> CANT1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613165"> 613165 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/473?start=-3&limit=10&highlight=473"> 19p13.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/132400"> Epiphyseal dysplasia, multiple, 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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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>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/132400"> 132400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600310"> COMP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600310"> 600310 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/457?start=-3&limit=10&highlight=457"> 20q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600969"> Epiphyseal dysplasia, multiple, 3, with or without myopathy </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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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>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600969"> 600969 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120270"> COL9A3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120270"> 120270 </a>
|
|
</span>
|
|
</td>
|
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</tr>
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|
|
</tbody>
|
|
</table>
|
|
</div>
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|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</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>
|
|
<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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|
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<span class="mim-font">
|
|
<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.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</span>
|
|
</h4>
|
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<div id="mimTextFold" class="collapse in ">
|
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<span class="mim-text-font">
|
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<p>A number sign (#) is used with this entry because of evidence that multiple epiphyseal dysplasia-1 (EDM1) is caused by heterozygous mutation in the gene encoding cartilage oligomeric matrix protein (COMP; <a href="/entry/600310">600310</a>) on chromosome 19p13.</p><p>Mutation in the COMP gene can also cause the more severe disorder pseudoachondroplasia (PSACH; <a href="/entry/177170">177170</a>).</p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
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|
|
|
|
|
|
<div>
|
|
<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
|
</span>
|
|
</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>Multiple epiphyseal dysplasia is a skeletal disorder characterized by short stature and early-onset osteoarthrosis (<a href="#4" class="mim-tip-reference" title="Briggs, M. D., Hoffman, S. M. G., King, L. M., Olsen, A. S., Mohrenweiser, H., Leroy, J. G., Mortier, G. R., Rimoin, D. L., Lachman, R. S., Gaines, E. S., Cekleniak, J. A., Knowlton, R. G., Cohn, D. H. <strong>Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.</strong> Nature Genet. 10: 330-336, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7670472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7670472</a>] [<a href="https://doi.org/10.1038/ng0795-330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7670472">Briggs et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7670472" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Multiple Epiphyseal Dysplasia</em></strong></p><p>
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Multiple epiphyseal dysplasia is a genetically heterogeneous disorder. See also EDM2 (<a href="/entry/600204">600204</a>), caused by mutation in the COL9A2 gene (<a href="/entry/120260">120260</a>); EDM3 (<a href="/entry/600969">600969</a>), caused by mutation in the COL9A3 gene (<a href="/entry/120270">120270</a>); EDM4 (<a href="/entry/226900">226900</a>), caused by mutation in the DTDST gene (<a href="/entry/606718">606718</a>); EDM5 (<a href="/entry/607078">607078</a>), caused by mutation in the MATN3 gene (<a href="/entry/602109">602109</a>); EDM6 (<a href="/entry/614135">614135</a>), caused by mutation in the COL9A1 gene (<a href="/entry/120210">120210</a>); and EDM7 (<a href="/entry/617719">617719</a>), caused by mutation in the CANT1 gene (<a href="/entry/613165">613165</a>).</p>
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<p>Severe osteoarthritis of the hips develops in early adulthood. The diagnosis in the adult is aided by the changes in the distal tibia (<a href="#19" class="mim-tip-reference" title="Leeds, N. E. <strong>Epiphysial dysplasia multiplex.</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 84: 506-510, 1960.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14415227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14415227</a>]" pmid="14415227">Leeds, 1960</a>). A deficiency in the lateral part of the distal tibial ossification center seen in children results in a sloping end of the tibia in adulthood. Short stature and brachydactyly are features. Considerable heterogeneity undoubtedly exists within this category. Chondrodystrophia calcificans congenita is a congenital form of multiple epiphyseal dysplasia (<a href="/entry/215100">215100</a>). <a href="#1" class="mim-tip-reference" title="Bachman, K. <strong>Hereditary peripheral dysostosis (3 cases).</strong> Proc. Roy. Soc. Med. 60: 21-22, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6018472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6018472</a>]" pmid="6018472">Bachman (1967)</a> described a 47-year-old woman, height 61.5 inches, with marked hyperextensibility of fingers and precocious osteoarthritis of the hips. A son and a daughter had very flexible fingers and, by hand x-ray, delay in carpal ossification, proximal pseudoepiphyses of metacarpals 2-5, cone-cup epiphyses-metaphyses, and widened joint spaces. Other joints showed extensive changes with widening of joint spaces and irregular epiphyses. The mother's mother, aunt, uncle, and cousin had hyperextensibility of the fingers and premature osteoarthritis. These authors referred to the condition as peripheral dysostosis but it seems different from the peripheral dysostosis (<a href="/entry/170700">170700</a>) described by <a href="#31" class="mim-tip-reference" title="Singleton, E. B., Daeschner, C. W., Teng, C. T. <strong>Peripheral dysostosis.</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 84: 499-505, 1960.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14447114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14447114</a>]" pmid="14447114">Singleton et al. (1960)</a>; the term 'peripheral' seems inappropriate, and the description suggests what others would call Fairbank multiple epiphyseal dysplasia. (See <a href="/entry/105835">105835</a> for another interpretation of the family reported by <a href="#1" class="mim-tip-reference" title="Bachman, K. <strong>Hereditary peripheral dysostosis (3 cases).</strong> Proc. Roy. Soc. Med. 60: 21-22, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6018472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6018472</a>]" pmid="6018472">Bachman (1967)</a>.) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14447114+14415227+6018472" 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>Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank (<a href="#10" class="mim-tip-reference" title="Fairbank, H. A. T. <strong>Dysplasia epiphysealis multiplex.</strong> Proc. Roy. Soc. Med. 39: 315-317, 1945."None>Fairbank, 1945</a>) and milder Ribbing (<a href="#30" class="mim-tip-reference" title="Ribbing, S. <strong>Studien ueber hereditaere, multiple Epiphysenstoerungen.</strong> Acta Radiol. Suppl. 34: 7-107, 1937."None>Ribbing, 1937</a>) types. Fairbank multiple epiphyseal dysplasia is probably the same as that described as enchondral dysostosis by <a href="#26" class="mim-tip-reference" title="Odman, P. <strong>Hereditary enchondral dysostosis: twelve cases in three generations mainly with peripheral location.</strong> Acta Radiol. 52: 97-113, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14428296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14428296</a>]" pmid="14428296">Odman (1959)</a>. <a href="#13" class="mim-tip-reference" title="Hulvey, J. T., Keats, T. E. <strong>Multiple epiphyseal dysplasia: a contribution to the problem of spinal involvement.</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 106: 170-177, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5769300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5769300</a>]" pmid="5769300">Hulvey and Keats (1969)</a> commented on the variability in the extent of spinal involvement and presented a family in which many members had severe peripheral involvement with no spinal involvement. The dividing line between multiple epiphyseal dysplasia and spondyloepiphyseal dysplasia tarda (see <a href="/entry/313400">313400</a>) can be indistinct, as evidenced by the family reported by <a href="#9" class="mim-tip-reference" title="Diamond, L. S. <strong>A family study of spondyloepiphyseal dysplasia.</strong> J. Bone Joint Surg. Am. 52: 1587-1594, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4991676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4991676</a>]" pmid="4991676">Diamond (1970)</a>--see <a href="/entry/184100">184100</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5769300+14428296+4991676" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#38" class="mim-tip-reference" title="Wynne-Davies, R., Hall, C. M., Apley, A. G. <strong>Atlas of Skeletal Dysplasias.</strong> Edinburgh: Churchill Livingstone (pub.) 1985."None>Wynne-Davies et al. (1985)</a> stated that the wrists and hands are often normal in the mild, or Ribbing, type, whereas they are short and stubby in the severe Fairbank type.</p><p><a href="#35" class="mim-tip-reference" title="Villarreal, T., Carnevale, A., Mayen, D. G., Takenaga, R., del Castillo, V. <strong>Anthropometric studies in five children and their mother with a severe form multiple epiphyseal dysplasia.</strong> Am. J. Med. Genet. 42: 415-419, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1609821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1609821</a>] [<a href="https://doi.org/10.1002/ajmg.1320420402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1609821">Villarreal et al. (1992)</a> described a form of epiphyseal dysplasia in a mother and 5 of her 10 children. A distinctive feature was unusually short hands and feet and particularly a short fourth metatarsal bone. Round face was also described. Curiously, the height of the affected individuals was not given. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1609821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#32" class="mim-tip-reference" title="Stanescu, R., Stanescu, V., Muriel, M.-P., Maroteaux, P. <strong>Multiple epiphyseal dysplasia, Fairbank type: morphologic and biochemical study of cartilage.</strong> Am. J. Med. Genet. 45: 501-507, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8465858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8465858</a>] [<a href="https://doi.org/10.1002/ajmg.1320450420" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8465858">Stanescu et al. (1993)</a> performed morphologic and biochemical studies on the upper tibial cartilage from a case of multiple epiphyseal dysplasia of the Fairbank type. They concluded that the changes are similar to those described in pseudoachondroplasia (e.g., <a href="/entry/177170">177170</a>) by Stanescu et al. (<a href="#33" class="mim-tip-reference" title="Stanescu, V., Maroteaux, P., Stanescu, R. <strong>The biochemical defect of pseudoachondroplasia.</strong> Europ. J. Pediat. 138: 221-225, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7117284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7117284</a>] [<a href="https://doi.org/10.1007/BF00441206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7117284">1982</a>, <a href="#34" class="mim-tip-reference" title="Stanescu, V., Stanescu, R., Maroteaux, P. <strong>Pathogenic mechanisms in osteochondrodysplasias.</strong> J. Bone Joint Surg. Am. 66: 817-836, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6376516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6376516</a>] [<a href="https://doi.org/10.2106/00004623-198466060-00002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6376516">1984</a>). However, the inclusions were smaller and the growth cartilage much less disorganized in MED. The similarities between the 2 disorders suggested that they have a similar pathogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6376516+8465858+7117284" 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>The transmission pattern of EDM1 in the family reported by <a href="#2" class="mim-tip-reference" title="Ballo, R., Briggs, M. D., Cohn, D. H., Knowlton, R. G., Beighton, P. H., Ramesar, R. S. <strong>Multiple epiphyseal dysplasia, Ribbing type: a novel point mutation in the COMP gene in a South African family.</strong> Am. J. Med. Genet. 68: 396-400, 1997. Note: Erratum: Am. J. Med. Genet. 71: 494 only, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9021009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9021009</a>]" pmid="9021009">Ballo et al. (1997)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9021009" 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>Genetic diagnosis of the COMP-related skeletal dysplasias pseudoachondroplasia and multiple epiphyseal dysplasia is difficult because COMP mutations are scattered throughout the gene and 5 additional disease genes for multiple epiphyseal dysplasia exist. <a href="#23" class="mim-tip-reference" title="Mabuchi, A., Momohara, S., Ohashi, H., Takatori, Y., Haga, N., Nishimura, G., Ikegawa, S. <strong>Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations.</strong> Am. J. Med. Genet. 129A: 35-38, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15266613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15266613</a>] [<a href="https://doi.org/10.1002/ajmg.a.30164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15266613">Mabuchi et al. (2004)</a> presented evidence that plasma COMP levels are significantly decreased in patients with COMP mutations compared with controls (p less than 0.0001). In addition, plasma COMP levels were significantly decreased in MED patients carrying mutations in COMP relative to those who lacked COMP mutations (p = 0.001). These results indicated that measuring the level of circulating COMP may be an easier, more rapid, and cost-efficient method for diagnosing PSACH and particularly for diagnosing MED. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15266613" 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>By demonstrating discordant inheritance of restriction fragment length polymorphisms (RFLPs) and MED in an extensively affected kindred, <a href="#37" class="mim-tip-reference" title="Weaver, E. J., Summerville, G. P., Yeh, G., Hervada-Page, M., Oehlmann, R., Rothman, R., Jimenez, S. A., Knowlton, R. G. <strong>Exclusion of type II and type VI procollagen gene mutations in a five-generation family with multiple epiphyseal dysplasia.</strong> Am. J. Med. Genet. 45: 345-352, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8094597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8094597</a>] [<a href="https://doi.org/10.1002/ajmg.1320450312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8094597">Weaver et al. (1993)</a> excluded the gene for type II (<a href="/entry/120140">120140</a>) collagen and the genes for the 3 chains of type VI (<a href="/entry/120220">120220</a>, <a href="/entry/120240">120240</a>, <a href="/entry/120250">120250</a>) collagen as the site of the mutation. By linkage studies, <a href="#28" class="mim-tip-reference" title="Oehlmann, R., Yeh, G., Summerville, G. P., Weaver, E. J., Jimenez, S. A., Knowlton, R. G. <strong>Multiple epiphyseal dysplasia maps to chromosome 19. (Abstract)</strong> Am. J. Hum. Genet. 53 (suppl.): A1054 only, 1993."None>Oehlmann et al. (1993)</a> also excluded the COL9A1 gene (<a href="/entry/120210">120210</a>), which maps to 6q13, and the CRTL1 gene (HAPLN1; <a href="/entry/115435">115435</a>), which maps to 5q13. However, linkage to DNA markers suggested location of the gene close to the centromere of chromosome 19. The highest lod score was observed for D19S199; maximum lod = 4.67 at theta = 0.09. <a href="#27" class="mim-tip-reference" title="Oehlmann, R., Summerville, G. P., Yeh, G., Weaver, E. J., Jimenez, S. A., Knowlton, R. G. <strong>Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19.</strong> Am. J. Hum. Genet. 54: 3-10, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8279467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8279467</a>]" pmid="8279467">Oehlmann et al. (1994)</a> later reported a maximum lod score of 6.37 at theta = 0.05 for linkage with D19S215. Multipoint linkage analysis indicated that MED was located between D19S212 and D19S215, a map interval of 1.7 cM. The gene for pseudoachondroplastic dysplasia (<a href="/entry/177170">177170</a>) has been mapped to the pericentric region of chromosome 19; this finding, combined with the morphologic similarity between pseudoachondroplasia and MED, mentioned earlier, again raised the possibility of allelism of the 2 disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8094597+8279467" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Deere, M., Blanton, S. H., Scott, C. I., Langer, L. O., Pauli, R. M., Hecht, J. T. <strong>Genetic heterogeneity in multiple epiphyseal dysplasia.</strong> Am. J. Hum. Genet. 56: 698-704, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7887425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7887425</a>]" pmid="7887425">Deere et al. (1995)</a> confirmed the linkage of autosomal dominant multiple epiphyseal dysplasia to D19S212; maximum lod = 3.22 at theta = 0.00. In a family in which 3 of 7 sibs were affected and the parents were unaffected, they excluded linkage to chromosome 19 (using both autosomal recessive and autosomal dominant models, with either reduced penetrance or germline mosaicism considered). Linkage to candidate genes COL9A1, COL9A2 (<a href="/entry/120260">120260</a>), and COL11A2 (<a href="/entry/120290">120290</a>) was tested and excluded for both genetic models in the latter family. COL11A1 (<a href="/entry/120280">120280</a>) was also excluded under a recessive model. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7887425" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The EDM1/PSACH locus had been found to be flanked by D19S212 and D19S215. These 2 markers had been localized in the chromosome 19 physical map consisting of cosmid contigs ordered by high-resolution fluorescence in situ hybridization. These 2 markers defined an interval of approximately 3.1 Mb at the 19p13.1-p12 boundary. With as many as 5 informative crossovers in 1 family with EDM1 and 1 family with a mild form of PSACH, <a href="#18" class="mim-tip-reference" title="Knowlton, R. G., Cekleniak, J. A., Cohn, D. H., Briggs, M. D., Hoffman, S. M. G., Brandriff, B. F., Olsen, A. S. <strong>High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12.</strong> Genomics 28: 513-519, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7490089/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7490089</a>] [<a href="https://doi.org/10.1006/geno.1995.1183" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7490089">Knowlton et al. (1995)</a> did recombination mapping at greater resolution. From cosmid contigs physically mapped within the D19S12/D19S215 interval, they found 4 new dinucleotide repeat polymorphisms. Analysis of recombinant haplotypes in the 2 families narrowed the possible location of the EDM1/PSACH gene to an interval of approximately 600 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7490089" 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>As outlined by <a href="#11" class="mim-tip-reference" title="Hecht, J. T., Nelson, L. D., Crowder, E., Wang, Y., Elder, F. F. B., Harrison, W. R., Francomano, C. A., Prange, C. K., Lennon, G. G., Deere, M., Lawler, J. <strong>Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia.</strong> Nature Genet. 10: 325-329, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7670471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7670471</a>] [<a href="https://doi.org/10.1038/ng0795-325" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7670471">Hecht et al. (1995)</a> and by <a href="#4" class="mim-tip-reference" title="Briggs, M. D., Hoffman, S. M. G., King, L. M., Olsen, A. S., Mohrenweiser, H., Leroy, J. G., Mortier, G. R., Rimoin, D. L., Lachman, R. S., Gaines, E. S., Cekleniak, J. A., Knowlton, R. G., Cohn, D. H. <strong>Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.</strong> Nature Genet. 10: 330-336, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7670472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7670472</a>] [<a href="https://doi.org/10.1038/ng0795-330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7670472">Briggs et al. (1995)</a>, it is generally agreed that the EDM1 and PSACH loci are in the centromeric region of 19p, 19p13.1-p12. Furthermore, the gene for cartilage oligomeric matrix protein (COMP; <a href="/entry/600310">600310</a>) maps to the same region. Both <a href="#11" class="mim-tip-reference" title="Hecht, J. T., Nelson, L. D., Crowder, E., Wang, Y., Elder, F. F. B., Harrison, W. R., Francomano, C. A., Prange, C. K., Lennon, G. G., Deere, M., Lawler, J. <strong>Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia.</strong> Nature Genet. 10: 325-329, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7670471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7670471</a>] [<a href="https://doi.org/10.1038/ng0795-325" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7670471">Hecht et al. (1995)</a> and <a href="#4" class="mim-tip-reference" title="Briggs, M. D., Hoffman, S. M. G., King, L. M., Olsen, A. S., Mohrenweiser, H., Leroy, J. G., Mortier, G. R., Rimoin, D. L., Lachman, R. S., Gaines, E. S., Cekleniak, J. A., Knowlton, R. G., Cohn, D. H. <strong>Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.</strong> Nature Genet. 10: 330-336, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7670472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7670472</a>] [<a href="https://doi.org/10.1038/ng0795-330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7670472">Briggs et al. (1995)</a> demonstrated mutations in the COMP gene in pseudoachondroplasia (e.g., <a href="/entry/600310#0001">600310.0001</a>) and <a href="#4" class="mim-tip-reference" title="Briggs, M. D., Hoffman, S. M. G., King, L. M., Olsen, A. S., Mohrenweiser, H., Leroy, J. G., Mortier, G. R., Rimoin, D. L., Lachman, R. S., Gaines, E. S., Cekleniak, J. A., Knowlton, R. G., Cohn, D. H. <strong>Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.</strong> Nature Genet. 10: 330-336, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7670472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7670472</a>] [<a href="https://doi.org/10.1038/ng0795-330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7670472">Briggs et al. (1995)</a> demonstrated a mutation in the COMP gene in a patient with multiple epiphyseal dysplasia (see <a href="/entry/600310#0005">600310.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7670472+7670471" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Ballo, R., Briggs, M. D., Cohn, D. H., Knowlton, R. G., Beighton, P. H., Ramesar, R. S. <strong>Multiple epiphyseal dysplasia, Ribbing type: a novel point mutation in the COMP gene in a South African family.</strong> Am. J. Med. Genet. 68: 396-400, 1997. Note: Erratum: Am. J. Med. Genet. 71: 494 only, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9021009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9021009</a>]" pmid="9021009">Ballo et al. (1997)</a> studied mild MED in a South African kindred and demonstrated heterozygosity for an asn523-to-lys amino acid substitution in the COMP protein (<a href="/entry/600310#0008">600310.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9021009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 15-year-old girl with a severe form of EDM (family R94-344), <a href="#5" class="mim-tip-reference" title="Briggs, M. D., Mortier, G. R., Cole, W. G., King, L. M., Golik, S. S., Bonaventure, J., Nuytinck, L., De Paepe, A., Leroy, J. G., Biesecker, L., Lipson, M., Wilcox, W. R., Lachman, R. S., Rimoin, D. L., Knowlton, R. G., Cohn, D. H. <strong>Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.</strong> Am. J. Hum. Genet. 62: 311-319, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9463320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9463320</a>] [<a href="https://doi.org/10.1086/301713" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9463320">Briggs et al. (1998)</a> identified a missense mutation in the COMP gene (N453S; <a href="/entry/600310#0009">600310.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9463320" 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 the proband from a multigenerational family with EDM, <a href="#8" class="mim-tip-reference" title="Delot, E., King, L. M., Briggs, M. D., Wilcox, W. R., Cohn, D. H. <strong>Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene.</strong> Hum. Molec. Genet. 8: 123-128, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9887340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9887340</a>] [<a href="https://doi.org/10.1093/hmg/8.1.123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9887340">Delot et al. (1999)</a> identified heterozygosity for expansion of the short (GAC)5 repeat in the COMP gene (<a href="/entry/600310#0012">600310.0012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9887340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with a mild form of EDM, <a href="#22" class="mim-tip-reference" title="Mabuchi, A., Manabe, N., Haga, N., Kitoh, H., Ikeda, T., Kawaji, H., Tamai, K., Hamada, J., Nakamura, S., Brunetti-Pierri, N., Kimizuka, M., Takatori, Y., Nakamura, K., Nishimura, G., Ohashi, H., Ikegawa, S. <strong>Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.</strong> Hum. Genet. 112: 84-90, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12483304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12483304</a>] [<a href="https://doi.org/10.1007/s00439-002-0845-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12483304">Mabuchi et al. (2003)</a> identified heterozygosity for a 1-bp insertion in the COMP gene (<a href="/entry/600310#0016">600310.0016</a>). Affected members of the family showed involvement of hip and knee joints, but had normal stature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12483304" 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 large 4-generation family (family 2) segregating MED with carpal tunnel syndrome (see CTS2, <a href="/entry/619161">619161</a>), <a href="#20" class="mim-tip-reference" title="Li, C., Wang, N., Schaffer, A. A., Liu, X., Zhao, Z., Elliott, G., Garrett, L., Choi, N. T., Wang, Y., Wang, Y., Wang, C., Wang, J., Chan, D., Su, P., Cui, S., Yang, Y., Gao, B. <strong>Mutations in COMP cause familial carpal tunnel syndrome.</strong> Nature Commun. 11: 3642, 2020. Note: Electronic Article. Erratum: Nature Commun. 11: 3931, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32686688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32686688</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32686688[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41467-020-17378-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32686688">Li et al. (2020)</a> identified heterozygosity for the recurrent R718W mutation in the COMP gene (<a href="/entry/600310#0017">600310.0017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32686688" 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="#16" class="mim-tip-reference" title="Jakkula, E., Lohiniva, J., Capone, A., Bonafe, L., Marti, M., Schuster, V., Giedion, A., Eich, G., Boltshauser, E., Ala-Kokko, L., Superti-Furga, A. <strong>A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations.</strong> J. Med. Genet. 40: 942-948, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14684695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14684695</a>] [<a href="https://doi.org/10.1136/jmg.40.12.942" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14684695">Jakkula et al. (2003)</a> found a heterozygous mutation in the COMP gene (<a href="/entry/600310#0017">600310.0017</a>) in patients with muscle weakness, moderate creatine kinase elevation, and MED beginning with the knee joints, uncovering a clinical and radiologic overlap with MED caused by mutation in the collagen IX genes (see <a href="/entry/600204">600204</a> and <a href="/entry/600969">600969</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14684695" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Reviews</em></strong></p><p>
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<a href="#14" class="mim-tip-reference" title="Jackson, G. C., Mittaz-Crettol, L., Taylor, J. A., Mortier, G. R., Spranger, J., Zabel, B., Le Merrer, M., Cormier-Daire, V., Hall, C. M., Offiah, A., Wright, M. J., Savarirayan, R., Nishimura, G., Ramsden, S. C., Elles, R., Bonafe, L., Superti-Furga, A., Unger, S., Zankl, Z., Briggs, M. D. <strong>Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.</strong> Hum. Mutat. 33: 144-157, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21922596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21922596</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21922596[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/humu.21611" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21922596">Jackson et al. (2012)</a> conducted a 7-year study (2003-2007) of 130 patients with pseudoachondroplasia or suspected multiple epiphyseal dysplasia and provided a detailed review of the clinical diagnoses and molecular findings in these patients compared to previously reported patients. The authors noted that whereas PSACH was relatively straightforward to diagnose based on clinical and radiographic information, the more subtle and variable radiographic signs of MED make that diagnosis more difficult. In contrast to previous studies suggesting that mutations in the known genes are not the major cause of MED, <a href="#14" class="mim-tip-reference" title="Jackson, G. C., Mittaz-Crettol, L., Taylor, J. A., Mortier, G. R., Spranger, J., Zabel, B., Le Merrer, M., Cormier-Daire, V., Hall, C. M., Offiah, A., Wright, M. J., Savarirayan, R., Nishimura, G., Ramsden, S. C., Elles, R., Bonafe, L., Superti-Furga, A., Unger, S., Zankl, Z., Briggs, M. D. <strong>Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.</strong> Hum. Mutat. 33: 144-157, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21922596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21922596</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21922596[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/humu.21611" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21922596">Jackson et al. (2012)</a> concluded that mutations in COMP, MATN3, and type IX collagen genes account for the vast majority of classic autosomal dominant MED. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21922596" 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 29 consecutive MED patients, <a href="#17" class="mim-tip-reference" title="Jakkula, E., Makitie, O., Czarny-Ratajczak, M., Jackson, G. C., Damignani, R., Susic, M., Briggs, M. D., Cole, W. G., Ala-Kokko, L. <strong>Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.</strong> Europ. J. Hum. Genet. 13: 292-301, 2005. Note: Erratum: Europ. J. Hum. Genet. 13: 1166 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15523498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15523498</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15523498">Jakkula et al. (2005)</a> found a DTDST mutation in 4 (14%), a COMP mutation in 3 (10%), and an MATN3 mutation in 3 (10%). Disease-causing mutations were identified in only 10 patients (34%). <a href="#17" class="mim-tip-reference" title="Jakkula, E., Makitie, O., Czarny-Ratajczak, M., Jackson, G. C., Damignani, R., Susic, M., Briggs, M. D., Cole, W. G., Ala-Kokko, L. <strong>Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.</strong> Europ. J. Hum. Genet. 13: 292-301, 2005. Note: Erratum: Europ. J. Hum. Genet. 13: 1166 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15523498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15523498</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15523498">Jakkula et al. (2005)</a> concluded that mutations in the known genes are not the major cause of MED and are responsible for less than half of the cases. <a href="#17" class="mim-tip-reference" title="Jakkula, E., Makitie, O., Czarny-Ratajczak, M., Jackson, G. C., Damignani, R., Susic, M., Briggs, M. D., Cole, W. G., Ala-Kokko, L. <strong>Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.</strong> Europ. J. Hum. Genet. 13: 292-301, 2005. Note: Erratum: Europ. J. Hum. Genet. 13: 1166 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15523498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15523498</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15523498">Jakkula et al. (2005)</a> described 2 distinct phenotypic entities in patients with MED but no observed mutations. Severe early-onset dysplasia of the proximal femurs with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks was found in 3 patients (<a href="/entry/609324">609324</a>). Two patients had strikingly small secondary ossification centers ('mini-epiphyses') in all joints, resulting in severe dysplasia of the proximal femoral heads (<a href="/entry/609325">609325</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15523498" 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>PSACH and EDM1 patients often have a mild myopathy characterized by mildly increased plasma creatine kinase levels, a variation in myofiber size and/or small atrophic fibers. <a href="#29" class="mim-tip-reference" title="Pirog, K. A., Jaka, O., Katakura, Y., Meadows, R. S., Kadler, K. E., Boot-Handford, R. P., Briggs, M. D. <strong>A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia.</strong> Hum. Molec. Genet. 19: 52-64, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19808781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19808781</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19808781[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp466" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19808781">Pirog et al. (2010)</a> studied skeletal muscle, tendon, and ligament in a mouse model of mild PSACH harboring a T585M mutation. T585M-mutant mice exhibited a progressive muscle weakness associated with an increased number of muscle fibers with central nuclei at the perimysium and at the myotendinous junction. Collagen fibril diameters in the mutant tendons and ligaments were thicker, and tendons became more lax in cyclic strain tests. <a href="#29" class="mim-tip-reference" title="Pirog, K. A., Jaka, O., Katakura, Y., Meadows, R. S., Kadler, K. E., Boot-Handford, R. P., Briggs, M. D. <strong>A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia.</strong> Hum. Molec. Genet. 19: 52-64, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19808781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19808781</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19808781[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp466" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19808781">Pirog et al. (2010)</a> hypothesized that the myopathy in PSACH-MED may originate from underlying tendon and ligament pathology that may be a direct result of abnormalities in collagen fibril architecture. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19808781" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Berg1966" class="mim-tip-reference" title="Berg, P. K. <strong>Dysplasia epiphysialis multiplex: a case report and review of the literature.</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 97: 31-38, 1966.">Berg (1966)</a>; <a href="#Cowan1963" class="mim-tip-reference" title="Cowan, D. J. <strong>Multiple epiphysial dysplasia.</strong> Brit. Med. J. 2: 1629 only, 1963.">Cowan (1963)</a>; <a href="#Hoefnagel1967" class="mim-tip-reference" title="Hoefnagel, D., Sycamore, L. K., Russell, S. W., Bucknall, W. E. <strong>Hereditary multiple epiphysial dysplasia.</strong> Ann. Hum. Genet. 30: 201-210, 1967.">Hoefnagel et al. (1967)</a>; <a href="#Jacobs1968" class="mim-tip-reference" title="Jacobs, P. A. <strong>Dysplasia epiphysialis multiplex.</strong> Clin. Orthop. 58: 117-128, 1968.">Jacobs (1968)</a>; <a href="#Lie1974" class="mim-tip-reference" title="Lie, S. O., Siggers, D. C., Dorst, J. P., Kopits, S. E. <strong>Unusual multiple epiphyseal dysplasias.</strong> Birth Defects Orig. Art. Ser. X(12): 165-185, 1974.">Lie et al. (1974)</a>; <a href="#Maudsley1955" class="mim-tip-reference" title="Maudsley, R. H. <strong>Dysplasia epiphysialis multiplex: a report of fourteen cases in three families.</strong> J. Bone Joint Surg. Br. 37: 228-240, 1955.">Maudsley (1955)</a>; <a href="#Murphy1973" class="mim-tip-reference" title="Murphy, M. C., Shine, I., Stevens, D. B. <strong>Multiple epiphyseal dysplasia: report of a pedigree.</strong> J. Bone Joint Surg. Am. 55: 814-820, 1973.">Murphy et al. (1973)</a>; <a href="#Watt1952" class="mim-tip-reference" title="Watt, J. K. <strong>Multiple epiphyseal dysplasia: report of four cases.</strong> Brit. J. Surg. 39: 533-535, 1952.">Watt (1952)</a>
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Bachman, K.
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<strong>Hereditary peripheral dysostosis (3 cases).</strong>
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Proc. Roy. Soc. Med. 60: 21-22, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6018472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6018472</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6018472" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Ballo, R., Briggs, M. D., Cohn, D. H., Knowlton, R. G., Beighton, P. H., Ramesar, R. S.
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<strong>Multiple epiphyseal dysplasia, Ribbing type: a novel point mutation in the COMP gene in a South African family.</strong>
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Am. J. Med. Genet. 68: 396-400, 1997. Note: Erratum: Am. J. Med. Genet. 71: 494 only, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9021009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9021009</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9021009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Berg, P. K.
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<strong>Dysplasia epiphysialis multiplex: a case report and review of the literature.</strong>
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Am. J. Roentgen. Radium Ther. Nucl. Med. 97: 31-38, 1966.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5938048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5938048</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5938048" 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.97.1.31" target="_blank">Full Text</a>]
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Briggs, M. D., Hoffman, S. M. G., King, L. M., Olsen, A. S., Mohrenweiser, H., Leroy, J. G., Mortier, G. R., Rimoin, D. L., Lachman, R. S., Gaines, E. S., Cekleniak, J. A., Knowlton, R. G., Cohn, D. H.
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<strong>Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.</strong>
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Nature Genet. 10: 330-336, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7670472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7670472</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7670472" 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/10.1038/ng0795-330" target="_blank">Full Text</a>]
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Briggs, M. D., Mortier, G. R., Cole, W. G., King, L. M., Golik, S. S., Bonaventure, J., Nuytinck, L., De Paepe, A., Leroy, J. G., Biesecker, L., Lipson, M., Wilcox, W. R., Lachman, R. S., Rimoin, D. L., Knowlton, R. G., Cohn, D. H.
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<strong>Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.</strong>
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Am. J. Hum. Genet. 62: 311-319, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9463320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9463320</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9463320" 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/10.1086/301713" target="_blank">Full Text</a>]
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Cowan, D. J.
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<strong>Multiple epiphysial dysplasia.</strong>
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Brit. Med. J. 2: 1629 only, 1963.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14066186/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14066186</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14066186" 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/10.1136/bmj.2.5373.1629" target="_blank">Full Text</a>]
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Deere, M., Blanton, S. H., Scott, C. I., Langer, L. O., Pauli, R. M., Hecht, J. T.
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<strong>Genetic heterogeneity in multiple epiphyseal dysplasia.</strong>
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Am. J. Hum. Genet. 56: 698-704, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7887425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7887425</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7887425" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Delot, E., King, L. M., Briggs, M. D., Wilcox, W. R., Cohn, D. H.
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<strong>Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene.</strong>
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Hum. Molec. Genet. 8: 123-128, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9887340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9887340</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9887340" 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/8.1.123" target="_blank">Full Text</a>]
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Diamond, L. S.
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<strong>A family study of spondyloepiphyseal dysplasia.</strong>
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J. Bone Joint Surg. Am. 52: 1587-1594, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4991676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4991676</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4991676" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Fairbank, H. A. T.
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<strong>Dysplasia epiphysealis multiplex.</strong>
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Proc. Roy. Soc. Med. 39: 315-317, 1945.
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<div class="">
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<p class="mim-text-font">
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Oehlmann, R., Yeh, G., Summerville, G. P., Weaver, E. J., Jimenez, S. A., Knowlton, R. G.
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<strong>Multiple epiphyseal dysplasia maps to chromosome 19. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 53 (suppl.): A1054 only, 1993.
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</p>
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</div>
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</li>
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<a id="29" class="mim-anchor"></a>
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<a id="Pirog2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pirog, K. A., Jaka, O., Katakura, Y., Meadows, R. S., Kadler, K. E., Boot-Handford, R. P., Briggs, M. D.
|
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<strong>A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia.</strong>
|
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Hum. Molec. Genet. 19: 52-64, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19808781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19808781</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19808781[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19808781" 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/ddp466" 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="30" class="mim-anchor"></a>
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<a id="Ribbing1937" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ribbing, S.
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|
<strong>Studien ueber hereditaere, multiple Epiphysenstoerungen.</strong>
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Acta Radiol. Suppl. 34: 7-107, 1937.
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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="31" class="mim-anchor"></a>
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<a id="Singleton1960" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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|
Singleton, E. B., Daeschner, C. W., Teng, C. T.
|
|
<strong>Peripheral dysostosis.</strong>
|
|
Am. J. Roentgen. Radium Ther. Nucl. Med. 84: 499-505, 1960.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14447114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14447114</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14447114" 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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<li>
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<a id="32" class="mim-anchor"></a>
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<a id="Stanescu1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stanescu, R., Stanescu, V., Muriel, M.-P., Maroteaux, P.
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<strong>Multiple epiphyseal dysplasia, Fairbank type: morphologic and biochemical study of cartilage.</strong>
|
|
Am. J. Med. Genet. 45: 501-507, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8465858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8465858</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8465858" 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.1320450420" 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="33" class="mim-anchor"></a>
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<a id="Stanescu1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stanescu, V., Maroteaux, P., Stanescu, R.
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<strong>The biochemical defect of pseudoachondroplasia.</strong>
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Europ. J. Pediat. 138: 221-225, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7117284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7117284</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7117284" 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/BF00441206" 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="34" class="mim-anchor"></a>
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<a id="Stanescu1984" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stanescu, V., Stanescu, R., Maroteaux, P.
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<strong>Pathogenic mechanisms in osteochondrodysplasias.</strong>
|
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J. Bone Joint Surg. Am. 66: 817-836, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6376516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6376516</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6376516" 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/10.2106/00004623-198466060-00002" 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="35" class="mim-anchor"></a>
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<a id="Villarreal1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Villarreal, T., Carnevale, A., Mayen, D. G., Takenaga, R., del Castillo, V.
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<strong>Anthropometric studies in five children and their mother with a severe form multiple epiphyseal dysplasia.</strong>
|
|
Am. J. Med. Genet. 42: 415-419, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1609821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1609821</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1609821" 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.1320420402" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="36" class="mim-anchor"></a>
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<a id="Watt1952" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Watt, J. K.
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<strong>Multiple epiphyseal dysplasia: report of four cases.</strong>
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Brit. J. Surg. 39: 533-535, 1952.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14935176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14935176</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14935176" 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/bjs.18003915815" 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="37" class="mim-anchor"></a>
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<a id="Weaver1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weaver, E. J., Summerville, G. P., Yeh, G., Hervada-Page, M., Oehlmann, R., Rothman, R., Jimenez, S. A., Knowlton, R. G.
|
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<strong>Exclusion of type II and type VI procollagen gene mutations in a five-generation family with multiple epiphyseal dysplasia.</strong>
|
|
Am. J. Med. Genet. 45: 345-352, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8094597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8094597</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8094597" 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.1320450312" 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="38" class="mim-anchor"></a>
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<a id="Wynne-Davies1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wynne-Davies, R., Hall, C. M., Apley, A. G.
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<strong>Atlas of Skeletal Dysplasias.</strong>
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Edinburgh: Churchill Livingstone (pub.) 1985.
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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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Marla J. F. O'Neill - updated : 01/19/2021
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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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Marla J. F. O'Neill - updated : 7/9/2012<br>Victor A. McKusick - updated : 4/4/2005<br>Victor A. McKusick - updated : 1/28/2005<br>Natalie E. Krasikov - updated : 3/30/2004<br>Michael B. Petersen - updated : 1/7/2002<br>Victor A. McKusick - updated : 4/18/1998<br>Victor A. McKusick - updated : 3/27/1997
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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 : 6/4/1986
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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="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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alopez : 04/08/2024
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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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alopez : 04/08/2024<br>carol : 04/14/2022<br>alopez : 01/19/2021<br>carol : 10/17/2017<br>alopez : 10/12/2017<br>mcolton : 03/04/2015<br>carol : 4/18/2013<br>carol : 7/11/2012<br>terry : 7/9/2012<br>wwang : 8/17/2011<br>carol : 8/5/2011<br>carol : 7/15/2011<br>terry : 1/13/2011<br>wwang : 11/18/2010<br>wwang : 11/15/2010<br>ckniffin : 11/9/2010<br>carol : 9/4/2009<br>carol : 4/3/2008<br>carol : 10/21/2005<br>carol : 10/21/2005<br>alopez : 4/21/2005<br>wwang : 4/7/2005<br>terry : 4/4/2005<br>alopez : 1/28/2005<br>carol : 4/7/2004<br>terry : 3/30/2004<br>carol : 7/7/2003<br>alopez : 6/28/2002<br>carol : 1/7/2002<br>alopez : 7/19/2001<br>mcapotos : 2/13/2001<br>alopez : 11/8/1999<br>carol : 12/16/1998<br>carol : 12/16/1998<br>carol : 4/18/1998<br>jenny : 3/27/1997<br>terry : 3/20/1997<br>mark : 12/13/1995<br>mark : 10/12/1995<br>terry : 6/30/1995<br>carol : 11/16/1994<br>mimadm : 9/24/1994<br>carol : 11/4/1993<br>carol : 10/19/1993
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</span>
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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> 132400
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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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EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1
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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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<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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MULTIPLE EPIPHYSEAL DYSPLASIA, COMP-RELATED
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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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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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EPIPHYSEAL DYSPLASIA, FAIRBANK TYPE, INCLUDED
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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EPIPHYSEAL DYSPLASIA, RIBBING TYPE, INCLUDED
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</span>
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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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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 715673002;
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<strong>ORPHA:</strong> 93308;
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<strong>DO:</strong> 0070303;
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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>
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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>
|
|
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">
|
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19p13.11
|
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</span>
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</td>
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<td>
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Epiphyseal dysplasia, multiple, 1
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<span class="mim-font">
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132400
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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<span class="mim-font">
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COMP
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<span class="mim-font">
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600310
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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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 multiple epiphyseal dysplasia-1 (EDM1) is caused by heterozygous mutation in the gene encoding cartilage oligomeric matrix protein (COMP; 600310) on chromosome 19p13.</p><p>Mutation in the COMP gene can also cause the more severe disorder pseudoachondroplasia (PSACH; 177170).</p>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Multiple epiphyseal dysplasia is a skeletal disorder characterized by short stature and early-onset osteoarthrosis (Briggs et al., 1995). </p><p><strong><em>Genetic Heterogeneity of Multiple Epiphyseal Dysplasia</em></strong></p><p>
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Multiple epiphyseal dysplasia is a genetically heterogeneous disorder. See also EDM2 (600204), caused by mutation in the COL9A2 gene (120260); EDM3 (600969), caused by mutation in the COL9A3 gene (120270); EDM4 (226900), caused by mutation in the DTDST gene (606718); EDM5 (607078), caused by mutation in the MATN3 gene (602109); EDM6 (614135), caused by mutation in the COL9A1 gene (120210); and EDM7 (617719), caused by mutation in the CANT1 gene (613165).</p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<p>Severe osteoarthritis of the hips develops in early adulthood. The diagnosis in the adult is aided by the changes in the distal tibia (Leeds, 1960). A deficiency in the lateral part of the distal tibial ossification center seen in children results in a sloping end of the tibia in adulthood. Short stature and brachydactyly are features. Considerable heterogeneity undoubtedly exists within this category. Chondrodystrophia calcificans congenita is a congenital form of multiple epiphyseal dysplasia (215100). Bachman (1967) described a 47-year-old woman, height 61.5 inches, with marked hyperextensibility of fingers and precocious osteoarthritis of the hips. A son and a daughter had very flexible fingers and, by hand x-ray, delay in carpal ossification, proximal pseudoepiphyses of metacarpals 2-5, cone-cup epiphyses-metaphyses, and widened joint spaces. Other joints showed extensive changes with widening of joint spaces and irregular epiphyses. The mother's mother, aunt, uncle, and cousin had hyperextensibility of the fingers and premature osteoarthritis. These authors referred to the condition as peripheral dysostosis but it seems different from the peripheral dysostosis (170700) described by Singleton et al. (1960); the term 'peripheral' seems inappropriate, and the description suggests what others would call Fairbank multiple epiphyseal dysplasia. (See 105835 for another interpretation of the family reported by Bachman (1967).) </p><p>Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank (Fairbank, 1945) and milder Ribbing (Ribbing, 1937) types. Fairbank multiple epiphyseal dysplasia is probably the same as that described as enchondral dysostosis by Odman (1959). Hulvey and Keats (1969) commented on the variability in the extent of spinal involvement and presented a family in which many members had severe peripheral involvement with no spinal involvement. The dividing line between multiple epiphyseal dysplasia and spondyloepiphyseal dysplasia tarda (see 313400) can be indistinct, as evidenced by the family reported by Diamond (1970)--see 184100. </p><p>Wynne-Davies et al. (1985) stated that the wrists and hands are often normal in the mild, or Ribbing, type, whereas they are short and stubby in the severe Fairbank type.</p><p>Villarreal et al. (1992) described a form of epiphyseal dysplasia in a mother and 5 of her 10 children. A distinctive feature was unusually short hands and feet and particularly a short fourth metatarsal bone. Round face was also described. Curiously, the height of the affected individuals was not given. </p><p>Stanescu et al. (1993) performed morphologic and biochemical studies on the upper tibial cartilage from a case of multiple epiphyseal dysplasia of the Fairbank type. They concluded that the changes are similar to those described in pseudoachondroplasia (e.g., 177170) by Stanescu et al. (1982, 1984). However, the inclusions were smaller and the growth cartilage much less disorganized in MED. The similarities between the 2 disorders suggested that they have a similar pathogenesis. </p>
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<h4>
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<strong>Inheritance</strong>
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<span class="mim-text-font">
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<p>The transmission pattern of EDM1 in the family reported by Ballo et al. (1997) was consistent with autosomal dominant inheritance. </p>
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<h4>
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<span class="mim-font">
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<strong>Diagnosis</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Genetic diagnosis of the COMP-related skeletal dysplasias pseudoachondroplasia and multiple epiphyseal dysplasia is difficult because COMP mutations are scattered throughout the gene and 5 additional disease genes for multiple epiphyseal dysplasia exist. Mabuchi et al. (2004) presented evidence that plasma COMP levels are significantly decreased in patients with COMP mutations compared with controls (p less than 0.0001). In addition, plasma COMP levels were significantly decreased in MED patients carrying mutations in COMP relative to those who lacked COMP mutations (p = 0.001). These results indicated that measuring the level of circulating COMP may be an easier, more rapid, and cost-efficient method for diagnosing PSACH and particularly for diagnosing MED. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By demonstrating discordant inheritance of restriction fragment length polymorphisms (RFLPs) and MED in an extensively affected kindred, Weaver et al. (1993) excluded the gene for type II (120140) collagen and the genes for the 3 chains of type VI (120220, 120240, 120250) collagen as the site of the mutation. By linkage studies, Oehlmann et al. (1993) also excluded the COL9A1 gene (120210), which maps to 6q13, and the CRTL1 gene (HAPLN1; 115435), which maps to 5q13. However, linkage to DNA markers suggested location of the gene close to the centromere of chromosome 19. The highest lod score was observed for D19S199; maximum lod = 4.67 at theta = 0.09. Oehlmann et al. (1994) later reported a maximum lod score of 6.37 at theta = 0.05 for linkage with D19S215. Multipoint linkage analysis indicated that MED was located between D19S212 and D19S215, a map interval of 1.7 cM. The gene for pseudoachondroplastic dysplasia (177170) has been mapped to the pericentric region of chromosome 19; this finding, combined with the morphologic similarity between pseudoachondroplasia and MED, mentioned earlier, again raised the possibility of allelism of the 2 disorders. </p><p>Deere et al. (1995) confirmed the linkage of autosomal dominant multiple epiphyseal dysplasia to D19S212; maximum lod = 3.22 at theta = 0.00. In a family in which 3 of 7 sibs were affected and the parents were unaffected, they excluded linkage to chromosome 19 (using both autosomal recessive and autosomal dominant models, with either reduced penetrance or germline mosaicism considered). Linkage to candidate genes COL9A1, COL9A2 (120260), and COL11A2 (120290) was tested and excluded for both genetic models in the latter family. COL11A1 (120280) was also excluded under a recessive model. </p><p>The EDM1/PSACH locus had been found to be flanked by D19S212 and D19S215. These 2 markers had been localized in the chromosome 19 physical map consisting of cosmid contigs ordered by high-resolution fluorescence in situ hybridization. These 2 markers defined an interval of approximately 3.1 Mb at the 19p13.1-p12 boundary. With as many as 5 informative crossovers in 1 family with EDM1 and 1 family with a mild form of PSACH, Knowlton et al. (1995) did recombination mapping at greater resolution. From cosmid contigs physically mapped within the D19S12/D19S215 interval, they found 4 new dinucleotide repeat polymorphisms. Analysis of recombinant haplotypes in the 2 families narrowed the possible location of the EDM1/PSACH gene to an interval of approximately 600 kb. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</h4>
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<span class="mim-text-font">
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<p>As outlined by Hecht et al. (1995) and by Briggs et al. (1995), it is generally agreed that the EDM1 and PSACH loci are in the centromeric region of 19p, 19p13.1-p12. Furthermore, the gene for cartilage oligomeric matrix protein (COMP; 600310) maps to the same region. Both Hecht et al. (1995) and Briggs et al. (1995) demonstrated mutations in the COMP gene in pseudoachondroplasia (e.g., 600310.0001) and Briggs et al. (1995) demonstrated a mutation in the COMP gene in a patient with multiple epiphyseal dysplasia (see 600310.0005). </p><p>Ballo et al. (1997) studied mild MED in a South African kindred and demonstrated heterozygosity for an asn523-to-lys amino acid substitution in the COMP protein (600310.0008). </p><p>In a 15-year-old girl with a severe form of EDM (family R94-344), Briggs et al. (1998) identified a missense mutation in the COMP gene (N453S; 600310.0009). </p><p>In the proband from a multigenerational family with EDM, Delot et al. (1999) identified heterozygosity for expansion of the short (GAC)5 repeat in the COMP gene (600310.0012). </p><p>In a patient with a mild form of EDM, Mabuchi et al. (2003) identified heterozygosity for a 1-bp insertion in the COMP gene (600310.0016). Affected members of the family showed involvement of hip and knee joints, but had normal stature. </p><p>In affected members of a large 4-generation family (family 2) segregating MED with carpal tunnel syndrome (see CTS2, 619161), Li et al. (2020) identified heterozygosity for the recurrent R718W mutation in the COMP gene (600310.0017). </p><p>Jakkula et al. (2003) found a heterozygous mutation in the COMP gene (600310.0017) in patients with muscle weakness, moderate creatine kinase elevation, and MED beginning with the knee joints, uncovering a clinical and radiologic overlap with MED caused by mutation in the collagen IX genes (see 600204 and 600969). </p><p><strong><em>Reviews</em></strong></p><p>
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Jackson et al. (2012) conducted a 7-year study (2003-2007) of 130 patients with pseudoachondroplasia or suspected multiple epiphyseal dysplasia and provided a detailed review of the clinical diagnoses and molecular findings in these patients compared to previously reported patients. The authors noted that whereas PSACH was relatively straightforward to diagnose based on clinical and radiographic information, the more subtle and variable radiographic signs of MED make that diagnosis more difficult. In contrast to previous studies suggesting that mutations in the known genes are not the major cause of MED, Jackson et al. (2012) concluded that mutations in COMP, MATN3, and type IX collagen genes account for the vast majority of classic autosomal dominant MED. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Heterogeneity</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 29 consecutive MED patients, Jakkula et al. (2005) found a DTDST mutation in 4 (14%), a COMP mutation in 3 (10%), and an MATN3 mutation in 3 (10%). Disease-causing mutations were identified in only 10 patients (34%). Jakkula et al. (2005) concluded that mutations in the known genes are not the major cause of MED and are responsible for less than half of the cases. Jakkula et al. (2005) described 2 distinct phenotypic entities in patients with MED but no observed mutations. Severe early-onset dysplasia of the proximal femurs with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks was found in 3 patients (609324). Two patients had strikingly small secondary ossification centers ('mini-epiphyses') in all joints, resulting in severe dysplasia of the proximal femoral heads (609325). </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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<span class="mim-text-font">
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<p>PSACH and EDM1 patients often have a mild myopathy characterized by mildly increased plasma creatine kinase levels, a variation in myofiber size and/or small atrophic fibers. Pirog et al. (2010) studied skeletal muscle, tendon, and ligament in a mouse model of mild PSACH harboring a T585M mutation. T585M-mutant mice exhibited a progressive muscle weakness associated with an increased number of muscle fibers with central nuclei at the perimysium and at the myotendinous junction. Collagen fibril diameters in the mutant tendons and ligaments were thicker, and tendons became more lax in cyclic strain tests. Pirog et al. (2010) hypothesized that the myopathy in PSACH-MED may originate from underlying tendon and ligament pathology that may be a direct result of abnormalities in collagen fibril architecture. </p>
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</span>
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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>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Berg (1966); Cowan (1963); Hoefnagel et al. (1967); Jacobs (1968);
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Lie et al. (1974); Maudsley (1955); Murphy et al. (1973); Watt (1952)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<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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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Bachman, K.
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<strong>Hereditary peripheral dysostosis (3 cases).</strong>
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Proc. Roy. Soc. Med. 60: 21-22, 1967.
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[PubMed: 6018472]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ballo, R., Briggs, M. D., Cohn, D. H., Knowlton, R. G., Beighton, P. H., Ramesar, R. S.
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<strong>Multiple epiphyseal dysplasia, Ribbing type: a novel point mutation in the COMP gene in a South African family.</strong>
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Am. J. Med. Genet. 68: 396-400, 1997. Note: Erratum: Am. J. Med. Genet. 71: 494 only, 1997.
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[PubMed: 9021009]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Berg, P. K.
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<strong>Dysplasia epiphysialis multiplex: a case report and review of the literature.</strong>
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Am. J. Roentgen. Radium Ther. Nucl. Med. 97: 31-38, 1966.
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[PubMed: 5938048]
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[Full Text: https://doi.org/10.2214/ajr.97.1.31]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Briggs, M. D., Hoffman, S. M. G., King, L. M., Olsen, A. S., Mohrenweiser, H., Leroy, J. G., Mortier, G. R., Rimoin, D. L., Lachman, R. S., Gaines, E. S., Cekleniak, J. A., Knowlton, R. G., Cohn, D. H.
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<strong>Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.</strong>
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Nature Genet. 10: 330-336, 1995.
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[PubMed: 7670472]
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[Full Text: https://doi.org/10.1038/ng0795-330]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Briggs, M. D., Mortier, G. R., Cole, W. G., King, L. M., Golik, S. S., Bonaventure, J., Nuytinck, L., De Paepe, A., Leroy, J. G., Biesecker, L., Lipson, M., Wilcox, W. R., Lachman, R. S., Rimoin, D. L., Knowlton, R. G., Cohn, D. H.
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<strong>Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.</strong>
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Am. J. Hum. Genet. 62: 311-319, 1998.
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[PubMed: 9463320]
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[Full Text: https://doi.org/10.1086/301713]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Cowan, D. J.
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<strong>Multiple epiphysial dysplasia.</strong>
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Brit. Med. J. 2: 1629 only, 1963.
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[PubMed: 14066186]
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[Full Text: https://doi.org/10.1136/bmj.2.5373.1629]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Deere, M., Blanton, S. H., Scott, C. I., Langer, L. O., Pauli, R. M., Hecht, J. T.
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<strong>Genetic heterogeneity in multiple epiphyseal dysplasia.</strong>
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Am. J. Hum. Genet. 56: 698-704, 1995.
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[PubMed: 7887425]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Delot, E., King, L. M., Briggs, M. D., Wilcox, W. R., Cohn, D. H.
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<strong>Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene.</strong>
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Hum. Molec. Genet. 8: 123-128, 1999.
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[PubMed: 9887340]
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[Full Text: https://doi.org/10.1093/hmg/8.1.123]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Diamond, L. S.
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<strong>A family study of spondyloepiphyseal dysplasia.</strong>
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J. Bone Joint Surg. Am. 52: 1587-1594, 1970.
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[PubMed: 4991676]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Fairbank, H. A. T.
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<strong>Dysplasia epiphysealis multiplex.</strong>
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Proc. Roy. Soc. Med. 39: 315-317, 1945.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hecht, J. T., Nelson, L. D., Crowder, E., Wang, Y., Elder, F. F. B., Harrison, W. R., Francomano, C. A., Prange, C. K., Lennon, G. G., Deere, M., Lawler, J.
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<strong>Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia.</strong>
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Nature Genet. 10: 325-329, 1995.
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[PubMed: 7670471]
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[Full Text: https://doi.org/10.1038/ng0795-325]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hoefnagel, D., Sycamore, L. K., Russell, S. W., Bucknall, W. E.
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