3132 lines
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Entry
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- #226900 - EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4
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- OMIM
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<p>
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<span class="h4">#226900</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/226900"><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="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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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=12244&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/NBK1306/" 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=226900[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=93307" 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/e5661ede-cd5a-4414-8107-89966839a66f/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 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:0070300" 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/226900" 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/OMIA001315/" 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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<div><a href="https://wormbase.org/resources/disease/DOID:0070300" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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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="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 715672007<br />
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<strong>ORPHA:</strong> 93307<br />
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<strong>DO:</strong> 0070300<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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226900
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</span>
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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, 4; EDM4
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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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<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, AUTOSOMAL RECESSIVE<br />
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MULTIPLE EPIPHYSEAL DYSPLASIA WITH CLUBFOOT<br />
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MULTIPLE EPIPHYSEAL DYSPLASIA WITH BILAYERED PATELLAE
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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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 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/5/658?start=-3&limit=10&highlight=658">
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5q32
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Epiphyseal dysplasia, multiple, 4
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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/226900"> 226900 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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SLC26A2
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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/606718"> 606718 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/226900" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS132400" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/226900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/226900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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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> GROWTH </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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<div>
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<span class="h5 mim-font">
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<em> Height </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Short stature (3rd-90th centile, infrequent finding) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856919&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856919</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 />
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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">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Multiple epiphyseal dysplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59708000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59708000</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/756.56" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">756.56</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1456376&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1456376</a>, <a href="https://bioportal.bioontology.org/search?q=C0026760&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026760</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002654" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002654</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002654" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002654</a>]</span><br />
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</span>
|
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pelvis </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hip dysplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52781008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52781008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1328407&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1328407</a>, <a href="https://bioportal.bioontology.org/search?q=C4551649&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551649</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008807" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008807</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001385</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001385</a>]</span><br /> -
|
|
Small femoral heads <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856920</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008802" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008802</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008802" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008802</a>]</span><br /> -
|
|
Flattened proximal femoral epiphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842155&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842155</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003370" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003370</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003370" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003370</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">
|
|
|
|
- Limited elbow flexion <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856922&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856922</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006376" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006376</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006376" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006376</a>]</span><br /> -
|
|
Double layered patella <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856923</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031174" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031174</a>]</span><br /> -
|
|
Arthralgia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57676002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57676002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M25.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M25.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/719.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.40</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/719.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003862&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003862</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002829</a>]</span><br /> -
|
|
Small humeral, distal radii, and ulnae epiphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856924</a>]</span><br /> -
|
|
Mildly shortened ulna <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856925</a>]</span><br /> -
|
|
Flat proximal femoral epiphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842155&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842155</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003370" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003370</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003370" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003370</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
</div>
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Brachydactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43476002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43476002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221357&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221357</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span><br /> -
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Mild shortened metacarpals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857633&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857633</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010049</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Feet </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Clubfoot <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397932003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397932003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156475005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156475005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.89</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span><br />
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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 EDM1 (<a href="/entry/132400">132400</a>), EDM2 (<a href="/entry/600204">600204</a>), EDM3 (<a href="/entry/600969">600969</a>), and EDM5 (<a href="/entry/607078">607078</a>)<br /> -
|
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Allelic to diastrophic dysplasia (<a href="/entry/222600">222600</a>), atelosteogenesis, type II (<a href="/entry/256050">256050</a>), and achondrogenesis, type IB (<a href="/entry/600972">600972</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>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the solute carrier family 26 (sulfate transporter), member 2 gene (SLC26A2, <a href="/entry/606718#0002">606718.0002</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
|
<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">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Epiphyseal dysplasia, multiple
|
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- <a href="/phenotypicSeries/PS132400">PS132400</a>
|
|
- 7 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
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|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
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<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<a href="/geneMap/1/487?start=-3&limit=10&highlight=487"> 1p34.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600204"> Epiphyseal dysplasia, multiple, 2 </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/600204"> 600204 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120260"> COL9A2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120260"> 120260 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/72?start=-3&limit=10&highlight=72"> 2p24.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607078"> Epiphyseal dysplasia, multiple, 5 </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/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">
|
|
|
|
<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/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">
|
|
|
|
<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/600969"> 600969 </a>
|
|
</span>
|
|
</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>
|
|
</tr>
|
|
|
|
</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>
|
|
<br />
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive multiple epiphyseal dysplasia-4 (EDM4) is caused by homozygous or compound heterozygous mutation in the DTDST gene (SLC26A2; <a href="/entry/606718">606718</a>) on chromosome 5q32.</p>
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<p><a href="#8" class="mim-tip-reference" title="Juberg, R. C., Holt, J. F. <strong>Inheritance of multiple epiphyseal dysplasia, tarda.</strong> Am. J. Hum. Genet. 20: 549-563, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5703690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5703690</a>]" pmid="5703690">Juberg and Holt (1968)</a> described 3 sisters and a brother with multiple epiphyseal dysplasia (MED). The parents were normal and not related. This family and some previously published families, including some with instances of parental consanguinity, led them to support recessive inheritance for one form of multiple epiphyseal dysplasia. MED with apparent recessive inheritance was also reported by <a href="#11" 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>, <a href="#15" class="mim-tip-reference" title="Waugh, W. <strong>Dysplasia epiphysialis multiplex in three sisters.</strong> J. Bone Joint Surg. Br. 34: 82-87, 1952.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12999879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12999879</a>] [<a href="https://doi.org/10.1302/0301-620X.34B1.82" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12999879">Waugh (1952)</a>, <a href="#7" class="mim-tip-reference" title="Hunt, D. D., Ponseti, I. V., Pedrini-Mille, A., Pedrini, V. <strong>Multiple epiphyseal dysplasia in two siblings.</strong> J. Bone Joint Surg. Am. 49: 1611-1627, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4229795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4229795</a>]" pmid="4229795">Hunt et al. (1967)</a>, and <a href="#5" class="mim-tip-reference" title="Gamboa, I., Lisker, R. <strong>Multiple epiphyseal dysplasia tarda: a family with autosomal recessive inheritance.</strong> Clin. Genet. 6: 15-19, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4426126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4426126</a>]" pmid="4426126">Gamboa and Lisker (1974)</a>. In some of these families, the differentiation from recessive pseudoachondroplastic spondyloepiphyseal dysplasia (<a href="/entry/177170">177170</a>) may not be clear. In that disorder, spinal changes may be evident mainly in radiographs taken before puberty. <a href="#10" class="mim-tip-reference" title="Maroteaux, P., Stanescu, R., Cohen-Solal, D. <strong>Dysplasie poly-epiphysaire probablement recessive autosomique: apport de l'etude ultra-structurale dans l'isolement de cette forme autonome.</strong> Nouv. Presse Med. 4: 2169-2172, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/170585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">170585</a>]" pmid="170585">Maroteaux et al. (1975)</a> suggested that the recessive form of MED may differ from the dominant in the presence of flat femoral head and lack of metaphyseal irregularities in the metacarpals and phalanges. Chondrocytes contain inclusions, probably of lysosomal origin, with granular or filamentous material. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4426126+5703690+4229795+170585+12999879" 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="#12" class="mim-tip-reference" title="Sheffield, E. G. <strong>Double-layered patella in multiple epiphyseal dysplasia: a valuable clue in the diagnosis.</strong> J. Pediat. Orthop. 18: 123-128, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9449113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9449113</a>]" pmid="9449113">Sheffield (1998)</a> reviewed literature on double-layered patella, its relationship to multiple epiphyseal dysplasia, radiographic findings, and clinical implications. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9449113" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="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> found linkage of a dominant form of MED, which they classified as the Fairbank type, to 19q (EDM1; <a href="/entry/132400">132400</a>), but failed to find linkage to chromosome 19 in a family with unaffected parents in which 3 of 7 sibs were affected. The 2 adult sibs in the latter family were examined radiographically and there appeared to be no phenotypic differences between them. <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><a href="#13" class="mim-tip-reference" title="Superti-Furga, A., Neumann, L., Riebel, T., Eich, G., Steinmann, B., Spranger, J., Kunze, J. <strong>Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.</strong> J. Med. Genet. 36: 621-624, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10465113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10465113</a>]" pmid="10465113">Superti-Furga et al. (1999)</a> reported a 36-year-old man of tall-normal stature who had requested genetic counseling for a presumed dominant form of multiple epiphyseal dysplasia. Bilateral clubfoot had been surgically corrected in childhood. Lateral knee x-rays at 8 years of age showed bilateral double-layered patellae. Cleft palate, swelling of the ear pinnae, and 'hitch-hiker thumb' were absent. A homozygous mutation in the DTDST gene (R279W; <a href="/entry/606718#0002">606718.0002</a>) was found. The authors classified this phenotype as autosomal recessive multiple epiphyseal dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10465113" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Huber, C., Odent, S., Rumeur, S., Padovani, P., Penet, C., Cormier-Daire, V., Munnich, A., Le Merrer, M. <strong>Sulphate transporter gene mutations in apparently isolated club foot. (Letter)</strong> J. Med. Genet. 38: 191-192, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11303514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11303514</a>] [<a href="https://doi.org/10.1136/jmg.38.3.191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11303514">Huber et al. (2001)</a> reported 2 unrelated sibships initially thought to have isolated clubfoot. In the first sibship, dizygotic twins had respectively unilateral metatarsus varus and bilateral clubfeet. Subsequently mild epiphyseal dysplasia of the upper femurs was noted. In the second sibship, the 2 children were originally thought to have isolated clubfoot but subsequent examination of x-rays demonstrated delayed ossification of the hip epiphyses and mild flaring of the metaphyses in 1 case and brachymesophalangy and hip subluxation in the second case. A homozygous R279W mutation in the DTDST gene (<a href="/entry/606718#0002">606718.0002</a>) was found in each case. <a href="#6" class="mim-tip-reference" title="Huber, C., Odent, S., Rumeur, S., Padovani, P., Penet, C., Cormier-Daire, V., Munnich, A., Le Merrer, M. <strong>Sulphate transporter gene mutations in apparently isolated club foot. (Letter)</strong> J. Med. Genet. 38: 191-192, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11303514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11303514</a>] [<a href="https://doi.org/10.1136/jmg.38.3.191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11303514">Huber et al. (2001)</a> noted the absence of double-layered patellae in these cases. The authors suggested that their patients, taken together with the patient of <a href="#13" class="mim-tip-reference" title="Superti-Furga, A., Neumann, L., Riebel, T., Eich, G., Steinmann, B., Spranger, J., Kunze, J. <strong>Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.</strong> J. Med. Genet. 36: 621-624, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10465113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10465113</a>]" pmid="10465113">Superti-Furga et al. (1999)</a>, added to the view that the clinical spectrum of abnormalities caused by DTDST mutations is broader than originally believed and includes apparently isolated clubfoot. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11303514+10465113" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Makitie, O., Savarirayan, R., Bonafe, L., Robertson, S., Susic, M., Superti-Furga, A., Cole, W. G. <strong>Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.</strong> Am. J. Med. Genet. 122A: 187-192, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12966518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12966518</a>] [<a href="https://doi.org/10.1002/ajmg.a.20282" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12966518">Makitie et al. (2003)</a> reported 3 patients from 2 families who were born to nonconsanguineous parents and developed signs of hip dysplasia in early childhood. Two had episodes of recurrent patella dislocations. Stature and the feet, ears, and palate were normal. X-rays showed dysplasia of femoral heads, mild generalized epiphyseal dysplasia, abnormal patella ossification, and normal hands and feet. A homozygous mutation in the DTDST gene (C653S; <a href="/entry/606718#0011">606718.0011</a>) was detected in each case. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12966518" 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="Barreda-Bonis, A. C., Barraza-Garcia, J., Parron, M., Pastor, I., Heath, K. E., Gonzalez-Casado, I. <strong>Multiple SLC26A2 mutations occurring in a three-generational family.</strong> Europ. J. Med. Genet. 61: 24-28, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29024831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29024831</a>] [<a href="https://doi.org/10.1016/j.ejmg.2017.10.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29024831">Barreda-Bonis et al. (2018)</a> reported a 14-year-old girl and her maternal grandfather with EDM4. When initially evaluated at the age of 16 months for disproportionate short stature, the girl had bilateral clubfoot, rhizomelic shortening of the extremities, and micrognathia with a high-arched palate. Her height was -3.09 SD and her arm span was severely reduced. Bone age was consistent with chronological age until puberty when it accelerated. At her most recent evaluation at age 14.8 years, her height was -1.9 SD with an advanced bone age of 16 years. Her BMI was 27. Skeletal survey at 20 months showed short, broad femoral necks with delayed ossification centers. Radii and ulna were bowed. She had deformities of both forearms and generalized flattening of the epiphyses. Acromicria was observed, with synostoses between the second and third metatarsals of both feet. She also had a double-layered patella. Her grandfather had short stature (143 cm, -5.33 SD) with shortening of his upper limbs and early joint problems, including bilateral hip pain in his twenties and a hip replacement in his forties, with a subsequent revision on the right hip at age 60. At age 70, surgical intervention of his shoulder joint for osteoarthritis was planned. His radiographic findings were similar to those seen in his granddaughter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29024831" 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 EDM4 in the family reported by <a href="#13" class="mim-tip-reference" title="Superti-Furga, A., Neumann, L., Riebel, T., Eich, G., Steinmann, B., Spranger, J., Kunze, J. <strong>Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.</strong> J. Med. Genet. 36: 621-624, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10465113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10465113</a>]" pmid="10465113">Superti-Furga et al. (1999)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10465113" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#13" class="mim-tip-reference" title="Superti-Furga, A., Neumann, L., Riebel, T., Eich, G., Steinmann, B., Spranger, J., Kunze, J. <strong>Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.</strong> J. Med. Genet. 36: 621-624, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10465113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10465113</a>]" pmid="10465113">Superti-Furga et al. (1999)</a> reported a homozygous DTDST mutation (R279W; <a href="/entry/606718#0002">606718.0002</a>) in a 36-year-old man of tall-normal stature with multiple epiphyseal dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10465113" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Huber, C., Odent, S., Rumeur, S., Padovani, P., Penet, C., Cormier-Daire, V., Munnich, A., Le Merrer, M. <strong>Sulphate transporter gene mutations in apparently isolated club foot. (Letter)</strong> J. Med. Genet. 38: 191-192, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11303514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11303514</a>] [<a href="https://doi.org/10.1136/jmg.38.3.191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11303514">Huber et al. (2001)</a> reported homozygous R279W mutations (<a href="/entry/606718#0002">606718.0002</a>) in the DTDST gene in 2 unrelated sibships initially thought to have isolated clubfoot. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11303514" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Czarny-Ratajczak, M., Lohiniva, J., Rogala, P., Kozlowski, K., Perala, M., Carter, L., Spector, T. D., Kolodziej, L., Seppanen, U., Glazar, R., Krolewski, J., Latos-Bielenska, A., Ala-Kokko, L. <strong>A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.</strong> Am. J. Hum. Genet. 69: 969-980, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11565064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11565064</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11565064[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/10.1086/324023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11565064">Czarny-Ratajczak et al. (2001)</a> identified the homozygous R279W mutation in 2 probands with multiple epiphyseal dysplasia and multipartite patella. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11565064" 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>Of 21 patients from 15 families with recessive multiple epiphyseal dysplasia, <a href="#1" class="mim-tip-reference" title="Ballhausen, D., Bonafe, L., Terhal, P., Unger, S. L., Bellus, G., Classen, M., Hamel, B. C., Spranger, J., Zabel, B., Cohn, D. H., Cole, W. G., Hecht, J. T., Superti-Furga, A. <strong>Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W (Letter)</strong> J. Med. Genet. 40: 65-71, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12525546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12525546</a>] [<a href="https://doi.org/10.1136/jmg.40.1.65" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12525546">Ballhausen et al. (2003)</a> identified homozygosity for the R279W mutation in 18 patients from 12 families. Three of the families were consanguineous. The main clinical findings included foot and hand deformities, joint complaints, and slightly reduced stature on average. The main radiographic findings were flat proximal femoral epiphyses, mild brachydactyly, and double layered patellae. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12525546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Makitie, O., Savarirayan, R., Bonafe, L., Robertson, S., Susic, M., Superti-Furga, A., Cole, W. G. <strong>Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.</strong> Am. J. Med. Genet. 122A: 187-192, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12966518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12966518</a>] [<a href="https://doi.org/10.1002/ajmg.a.20282" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12966518">Makitie et al. (2003)</a> identified a homozygous DTDST mutation (C653S; <a href="/entry/606718#0011">606718.0011</a>) in 2 unrelated sibships with early childhood-onset hip dysplasia, recurrent patella dislocation, and normal stature. Abnormal patella ossification was characteristic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12966518" 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>Using a targeted next-generation sequencing skeletal dysplasia panel, <a href="#2" class="mim-tip-reference" title="Barreda-Bonis, A. C., Barraza-Garcia, J., Parron, M., Pastor, I., Heath, K. E., Gonzalez-Casado, I. <strong>Multiple SLC26A2 mutations occurring in a three-generational family.</strong> Europ. J. Med. Genet. 61: 24-28, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29024831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29024831</a>] [<a href="https://doi.org/10.1016/j.ejmg.2017.10.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29024831">Barreda-Bonis et al. (2018)</a> identified mutations in the SLC26A2 gene in a 14-year-old-girl and her maternal grandfather with EDM4. The girl was compound heterozygous for the common R279W mutation (<a href="/entry/606718#0002">606718.0002</a>), inherited from her mother, and a S522F mutation (<a href="/entry/606718#0015">606718.0015</a>), inherited from her father. Her grandfather was homozygous for the R279W mutation. The girl's mother was short (-3.53 SD), but was only a carrier of the R279W mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29024831" 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="#Watt1952" class="mim-tip-reference" title="Watt, J. K. <strong>Multiple epiphyseal dysplasia: a report of four cases.</strong> Brit. J. Surg. 39: 533-535, 1952.">Watt (1952)</a>; <a href="#Weaver1978" class="mim-tip-reference" title="Weaver, D. D., Otter, M., Colyer, R. A., Jackson, C. E. <strong>Juberg-Holt type recessive multiple epiphyseal dysplasia tarda in an Amish family. (Abstract)</strong> Am. J. Hum. Genet. 30: 71A only, 1978.">Weaver et al. (1978)</a>
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Ballhausen, D., Bonafe, L., Terhal, P., Unger, S. L., Bellus, G., Classen, M., Hamel, B. C., Spranger, J., Zabel, B., Cohn, D. H., Cole, W. G., Hecht, J. T., Superti-Furga, A.
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<strong>Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W (Letter)</strong>
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J. Med. Genet. 40: 65-71, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12525546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12525546</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12525546" 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/jmg.40.1.65" target="_blank">Full Text</a>]
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Barreda-Bonis, A. C., Barraza-Garcia, J., Parron, M., Pastor, I., Heath, K. E., Gonzalez-Casado, I.
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<strong>Multiple SLC26A2 mutations occurring in a three-generational family.</strong>
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Europ. J. Med. Genet. 61: 24-28, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29024831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29024831</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29024831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ejmg.2017.10.007" target="_blank">Full Text</a>]
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Czarny-Ratajczak, M., Lohiniva, J., Rogala, P., Kozlowski, K., Perala, M., Carter, L., Spector, T. D., Kolodziej, L., Seppanen, U., Glazar, R., Krolewski, J., Latos-Bielenska, A., Ala-Kokko, L.
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<strong>A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.</strong>
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Am. J. Hum. Genet. 69: 969-980, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11565064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11565064</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11565064[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=11565064" 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/10.1086/324023" target="_blank">Full Text</a>]
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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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Clin. Genet. 6: 15-19, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4426126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4426126</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4426126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Huber, C., Odent, S., Rumeur, S., Padovani, P., Penet, C., Cormier-Daire, V., Munnich, A., Le Merrer, M.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11303514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11303514</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11303514" 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/jmg.38.3.191" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5703690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5703690</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5703690" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Makitie2003" class="mim-anchor"></a>
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Makitie, O., Savarirayan, R., Bonafe, L., Robertson, S., Susic, M., Superti-Furga, A., Cole, W. G.
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<strong>Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.</strong>
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Am. J. Med. Genet. 122A: 187-192, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12966518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12966518</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12966518" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20282" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/170585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">170585</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=170585" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9449113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9449113</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9449113" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Superti-Furga, A., Neumann, L., Riebel, T., Eich, G., Steinmann, B., Spranger, J., Kunze, J.
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<strong>Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10465113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10465113</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10465113" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="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: a 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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<a id="Waugh1952" class="mim-anchor"></a>
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Waugh, W.
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<strong>Dysplasia epiphysialis multiplex in three sisters.</strong>
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J. Bone Joint Surg. Br. 34: 82-87, 1952.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12999879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12999879</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12999879" 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/10.1302/0301-620X.34B1.82" target="_blank">Full Text</a>]
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Weaver, D. D., Otter, M., Colyer, R. A., Jackson, C. E.
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<strong>Juberg-Holt type recessive multiple epiphyseal dysplasia tarda in an Amish family. (Abstract)</strong>
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Am. J. Hum. Genet. 30: 71A only, 1978.
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Sonja A. Rasmussen - updated : 03/22/2019
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Cassandra L. Kniffin - updated : 12/9/2003<br>Felicity Collins - updated : 12/5/2003<br>Michael J. Wright - updated : 6/28/2002<br>Michael J. Wright - updated : 11/8/1999
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Creation Date:
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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 : 6/3/1986
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alopez : 11/19/2024
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alopez : 11/30/2023<br>carol : 03/25/2019<br>carol : 03/22/2019<br>carol : 05/24/2016<br>carol : 5/23/2016<br>terry : 1/13/2011<br>carol : 10/25/2006<br>carol : 10/25/2006<br>carol : 12/12/2003<br>ckniffin : 12/9/2003<br>carol : 12/8/2003<br>carol : 12/5/2003<br>alopez : 6/28/2002<br>terry : 6/28/2002<br>alopez : 6/28/2002<br>alopez : 6/28/2002<br>carol : 2/27/2002<br>alopez : 7/19/2001<br>alopez : 7/19/2001<br>joanna : 7/16/2001<br>alopez : 11/8/1999<br>alopez : 11/8/1999<br>carol : 12/16/1998<br>mark : 3/29/1995<br>mimadm : 2/19/1994<br>carol : 5/21/1993<br>carol : 2/18/1993<br>carol : 3/30/1992<br>supermim : 3/16/1992
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<span class="mim-font">
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<strong>#</strong> 226900
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<h3>
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EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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MULTIPLE EPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE<br />
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MULTIPLE EPIPHYSEAL DYSPLASIA WITH CLUBFOOT<br />
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MULTIPLE EPIPHYSEAL DYSPLASIA WITH BILAYERED PATELLAE
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<strong>SNOMEDCT:</strong> 715672007;
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<strong>ORPHA:</strong> 93307;
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<strong>DO:</strong> 0070300;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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5q32
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<span class="mim-font">
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Epiphyseal dysplasia, multiple, 4
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<span class="mim-font">
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226900
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<span class="mim-font">
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Autosomal recessive
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<td>
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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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SLC26A2
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<span class="mim-font">
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606718
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive multiple epiphyseal dysplasia-4 (EDM4) is caused by homozygous or compound heterozygous mutation in the DTDST gene (SLC26A2; 606718) on chromosome 5q32.</p>
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<strong>Clinical Features</strong>
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<p>Juberg and Holt (1968) described 3 sisters and a brother with multiple epiphyseal dysplasia (MED). The parents were normal and not related. This family and some previously published families, including some with instances of parental consanguinity, led them to support recessive inheritance for one form of multiple epiphyseal dysplasia. MED with apparent recessive inheritance was also reported by Ribbing (1937), Waugh (1952), Hunt et al. (1967), and Gamboa and Lisker (1974). In some of these families, the differentiation from recessive pseudoachondroplastic spondyloepiphyseal dysplasia (177170) may not be clear. In that disorder, spinal changes may be evident mainly in radiographs taken before puberty. Maroteaux et al. (1975) suggested that the recessive form of MED may differ from the dominant in the presence of flat femoral head and lack of metaphyseal irregularities in the metacarpals and phalanges. Chondrocytes contain inclusions, probably of lysosomal origin, with granular or filamentous material. </p><p>Sheffield (1998) reviewed literature on double-layered patella, its relationship to multiple epiphyseal dysplasia, radiographic findings, and clinical implications. </p><p>Deere et al. (1995) found linkage of a dominant form of MED, which they classified as the Fairbank type, to 19q (EDM1; 132400), but failed to find linkage to chromosome 19 in a family with unaffected parents in which 3 of 7 sibs were affected. The 2 adult sibs in the latter family were examined radiographically and there appeared to be no phenotypic differences between them. </p><p>Superti-Furga et al. (1999) reported a 36-year-old man of tall-normal stature who had requested genetic counseling for a presumed dominant form of multiple epiphyseal dysplasia. Bilateral clubfoot had been surgically corrected in childhood. Lateral knee x-rays at 8 years of age showed bilateral double-layered patellae. Cleft palate, swelling of the ear pinnae, and 'hitch-hiker thumb' were absent. A homozygous mutation in the DTDST gene (R279W; 606718.0002) was found. The authors classified this phenotype as autosomal recessive multiple epiphyseal dysplasia. </p><p>Huber et al. (2001) reported 2 unrelated sibships initially thought to have isolated clubfoot. In the first sibship, dizygotic twins had respectively unilateral metatarsus varus and bilateral clubfeet. Subsequently mild epiphyseal dysplasia of the upper femurs was noted. In the second sibship, the 2 children were originally thought to have isolated clubfoot but subsequent examination of x-rays demonstrated delayed ossification of the hip epiphyses and mild flaring of the metaphyses in 1 case and brachymesophalangy and hip subluxation in the second case. A homozygous R279W mutation in the DTDST gene (606718.0002) was found in each case. Huber et al. (2001) noted the absence of double-layered patellae in these cases. The authors suggested that their patients, taken together with the patient of Superti-Furga et al. (1999), added to the view that the clinical spectrum of abnormalities caused by DTDST mutations is broader than originally believed and includes apparently isolated clubfoot. </p><p>Makitie et al. (2003) reported 3 patients from 2 families who were born to nonconsanguineous parents and developed signs of hip dysplasia in early childhood. Two had episodes of recurrent patella dislocations. Stature and the feet, ears, and palate were normal. X-rays showed dysplasia of femoral heads, mild generalized epiphyseal dysplasia, abnormal patella ossification, and normal hands and feet. A homozygous mutation in the DTDST gene (C653S; 606718.0011) was detected in each case. </p><p>Barreda-Bonis et al. (2018) reported a 14-year-old girl and her maternal grandfather with EDM4. When initially evaluated at the age of 16 months for disproportionate short stature, the girl had bilateral clubfoot, rhizomelic shortening of the extremities, and micrognathia with a high-arched palate. Her height was -3.09 SD and her arm span was severely reduced. Bone age was consistent with chronological age until puberty when it accelerated. At her most recent evaluation at age 14.8 years, her height was -1.9 SD with an advanced bone age of 16 years. Her BMI was 27. Skeletal survey at 20 months showed short, broad femoral necks with delayed ossification centers. Radii and ulna were bowed. She had deformities of both forearms and generalized flattening of the epiphyses. Acromicria was observed, with synostoses between the second and third metatarsals of both feet. She also had a double-layered patella. Her grandfather had short stature (143 cm, -5.33 SD) with shortening of his upper limbs and early joint problems, including bilateral hip pain in his twenties and a hip replacement in his forties, with a subsequent revision on the right hip at age 60. At age 70, surgical intervention of his shoulder joint for osteoarthritis was planned. His radiographic findings were similar to those seen in his granddaughter. </p>
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<h4>
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<span class="mim-font">
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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 EDM4 in the family reported by Superti-Furga et al. (1999) was consistent with autosomal recessive inheritance. </p>
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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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<span class="mim-text-font">
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<p>Superti-Furga et al. (1999) reported a homozygous DTDST mutation (R279W; 606718.0002) in a 36-year-old man of tall-normal stature with multiple epiphyseal dysplasia. </p><p>Huber et al. (2001) reported homozygous R279W mutations (606718.0002) in the DTDST gene in 2 unrelated sibships initially thought to have isolated clubfoot. </p><p>Czarny-Ratajczak et al. (2001) identified the homozygous R279W mutation in 2 probands with multiple epiphyseal dysplasia and multipartite patella. </p><p>Of 21 patients from 15 families with recessive multiple epiphyseal dysplasia, Ballhausen et al. (2003) identified homozygosity for the R279W mutation in 18 patients from 12 families. Three of the families were consanguineous. The main clinical findings included foot and hand deformities, joint complaints, and slightly reduced stature on average. The main radiographic findings were flat proximal femoral epiphyses, mild brachydactyly, and double layered patellae. </p><p>Makitie et al. (2003) identified a homozygous DTDST mutation (C653S; 606718.0011) in 2 unrelated sibships with early childhood-onset hip dysplasia, recurrent patella dislocation, and normal stature. Abnormal patella ossification was characteristic. </p><p>Using a targeted next-generation sequencing skeletal dysplasia panel, Barreda-Bonis et al. (2018) identified mutations in the SLC26A2 gene in a 14-year-old-girl and her maternal grandfather with EDM4. The girl was compound heterozygous for the common R279W mutation (606718.0002), inherited from her mother, and a S522F mutation (606718.0015), inherited from her father. Her grandfather was homozygous for the R279W mutation. The girl's mother was short (-3.53 SD), but was only a carrier of the R279W mutation. </p>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Watt (1952); Weaver et al. (1978)
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</span>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</h4>
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<p />
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<p class="mim-text-font">
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Ballhausen, D., Bonafe, L., Terhal, P., Unger, S. L., Bellus, G., Classen, M., Hamel, B. C., Spranger, J., Zabel, B., Cohn, D. H., Cole, W. G., Hecht, J. T., Superti-Furga, A.
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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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Waugh, W.
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<strong>Dysplasia epiphysialis multiplex in three sisters.</strong>
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Weaver, D. D., Otter, M., Colyer, R. A., Jackson, C. E.
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<strong>Juberg-Holt type recessive multiple epiphyseal dysplasia tarda in an Amish family. (Abstract)</strong>
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