3186 lines
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Entry
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- #156500 - METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS
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- OMIM
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<p>
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<span class="h4">#156500</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/156500"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#history">History</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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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div><a href="https://clinicaltrials.gov/search?cond=METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE" 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=1624&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/NBK547823/" 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=156500[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=174" 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/49a15b48-4b2d-4e0f-9353-6778667ca2e3/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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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080021" 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/156500" 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/OMIA001718/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 29248006<br />
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<strong>ORPHA:</strong> 174<br />
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<strong>DO:</strong> 0080021<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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156500
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE
|
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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">
|
|
<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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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/6/796?start=-3&limit=10&highlight=796">
|
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6q22.1
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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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Metaphyseal chondrodysplasia, Schmid type
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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/156500"> 156500 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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COL10A1
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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/120110"> 120110 </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 ">
|
|
<a href="/clinicalSynopsis/156500" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
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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">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/156500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/156500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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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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|
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<div>
|
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<span class="mim-font">
|
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|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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|
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</span>
|
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</div>
|
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|
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</div>
|
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|
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</div>
|
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature, mild to moderate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3149232&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3149232</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br /> -
|
|
Adult height 130-160cm <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834972&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834972</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ribs Sternum Clavicles & Scapulae </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Lower rib cage flared <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855196&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855196</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006589" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006589</a>]</span><br /> -
|
|
Anterior cupping and sclerosis of ribs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5562919&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5562919</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- No osteoarthritic symptoms <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834973&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834973</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mild platyspondyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848999&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848999</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005752" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005752</a>]</span><br /> -
|
|
Endplate irregularity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842153&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842153</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003301" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003301</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003301" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003301</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pelvis </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Coxa vara <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12067001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12067001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74820003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74820003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1179328008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1179328008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q65.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q65.82</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.32</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/755.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.62</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239138&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239138</a>, <a href="https://bioportal.bioontology.org/search?q=C5551440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5551440</a>, <a href="https://bioportal.bioontology.org/search?q=C0158481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158481</a>, <a href="https://bioportal.bioontology.org/search?q=C0152431&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152431</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002812</a>]</span><br /> -
|
|
Irregular acetabular roof <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834975&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834975</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008833" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008833</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008833" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008833</a>]</span><br /> -
|
|
Enlarged capital femoral epiphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859697</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003371" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003371</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003371" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003371</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">
|
|
|
|
- Femoral bowing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859461&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859461</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002980" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002980</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002980" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002980</a>]</span><br /> -
|
|
Tibial bowing, especially at ankle <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834976&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834976</a>]</span><br /> -
|
|
Genu varum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299331007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299331007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64925008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64925008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.16" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.16</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.42</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0544755&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0544755</a>, <a href="https://bioportal.bioontology.org/search?q=C0158485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158485</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002970" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002970</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002970" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002970</a>]</span><br /> -
|
|
Metaphyseal abnormalities of distal and proximal femurs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834977</a>]</span><br /> -
|
|
Metaphyseal abnormalities of proximal tibiae and fibulae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834978&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834978</a>]</span><br /> -
|
|
Metaphyseal abnormalities of distal radius and ulna <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834979&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834979</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
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<div>
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- Caused by mutation in the collagen X, alpha-1 polypeptide gene (COL10A1, <a href="/entry/120110#0001">120110.0001</a>)<br />
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Schmid-type metaphyseal chondrodysplasia (MCDS) is caused by heterozygous mutation in the COL10A1 gene (<a href="/entry/120110">120110</a>) on chromosome 6q22.</p>
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<p>Schmid-type metaphyseal chondrodysplasia (MCDS) is characterized by short stature and bowing of the long bones; radiographic features include widening and irregularity of the growth plates, especially in the distal and proximal femora (summary by <a href="#15" class="mim-tip-reference" title="Makitie, O., Susic, M., Ward, L., Barclay, C., Glorieux, F. H., Cole, W. G. <strong>Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients.</strong> Am. J. Med. Genet. 137A: 241-248, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16088909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16088909</a>] [<a href="https://doi.org/10.1002/ajmg.a.30855" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16088909">Makitie et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16088909" 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="#21" class="mim-tip-reference" title="Stephens, F. E. <strong>An achondroplastic mutation and the nature of its inheritance.</strong> J. Hered. 34: 229-235, 1943."None>Stephens (1943)</a> reported a Mormon kindred in which over 40 members of 4 generations were affected with what he considered to be achondroplasia. The x-ray findings as demonstrated in his figures and as reviewed by <a href="#2" class="mim-tip-reference" title="Caffey, J. P., Christensen, W. R. <strong>Personal Communication.</strong> Pittsburgh, Pa. and Salt Lake City, Utah 1963."None>Caffey and Christensen (1963)</a> were, however, those of metaphyseal chondrodysplasia. In a 3-year-old child the interpediculate distances and greater sciatic groove were normal and the typical metaphyseal changes were demonstrated. Affected women went through vaginal deliveries successfully and were usually accompanied only by a midwife. <a href="#21" class="mim-tip-reference" title="Stephens, F. E. <strong>An achondroplastic mutation and the nature of its inheritance.</strong> J. Hered. 34: 229-235, 1943."None>Stephens (1943)</a> suggested that the original mutation could be identified. The first affected ancestor, born in 1833, was said to have normal parents and 11 unaffected sibs.</p><p><a href="#18" class="mim-tip-reference" title="Rosenbloom, A. L., Smith, D. W. <strong>The natural history of metaphyseal dysostosis.</strong> J. Pediat. 66: 857-868, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14279845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14279845</a>] [<a href="https://doi.org/10.1016/s0022-3476(65)80060-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14279845">Rosenbloom and Smith (1965)</a> described 24 affected persons in 1 kindred. In a girl with metaphyseal chondrodysplasia said to be intermediate in phenotype between the Jansen (<a href="/entry/156400">156400</a>) and Schmid types, <a href="#3" class="mim-tip-reference" title="Cooper, R. R., Pedrini-Mille, A., Ponseti, I. V. <strong>Metaphyseal dysostosis: a rough surfaced endoplasmic reticulum storage defect.</strong> Lab. Invest. 28: 119-125, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4265987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4265987</a>]" pmid="4265987">Cooper et al. (1973)</a> demonstrated distention of the rough-surfaced endoplasmic reticulum cisternae of chondrocytes due to accumulation of what appeared to be a protein. <a href="#4" class="mim-tip-reference" title="Cooper, R. R., Ponseti, I. V. <strong>Metaphyseal dysostosis: description of an ultrastructural defect in the epiphyseal plate chondrocytes. Case report.</strong> J. Bone Joint Surg. Am. 55: 485-495, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4349945/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4349945</a>]" pmid="4349945">Cooper and Ponseti (1973)</a> studied an affected girl. Electron microscopy of her chondrocytes from the iliac crest area and ulnar epiphyseal plate revealed dilated rough endoplasmic reticulum (RER) cisternae containing a granular material. Cartilage matrix collagen and osteoid appeared to be normal. Osteoblasts and osteocytes showed a slight degree of RER dilatation. <a href="#9" class="mim-tip-reference" title="Gorlin, R. J. <strong>Personal Communication.</strong> Minneapolis, Minn. 2/25/1985."None>Gorlin (1985)</a> suggested that the true diagnosis in the family reported by <a href="#6" class="mim-tip-reference" title="David, J. E. A., Palmer, P. E. S. <strong>Familial metaphysial dysplasia.</strong> J. Bone Joint Surg. Br. 40: 86-93, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13513655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13513655</a>] [<a href="https://doi.org/10.1302/0301-620X.40B1.86" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13513655">David and Palmer (1958)</a> was oculodentoosseous dysplasia (<a href="/entry/164200">164200</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14279845+4349945+13513655+4265987" 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="#14" class="mim-tip-reference" title="Lachman, R. S., Rimoin, D. L., Spranger, J. <strong>Metaphyseal chondrodysplasia, Schmid type: clinical and radiographic delineation with a review of the literature.</strong> Pediat. Radiol. 18: 93-102, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3281118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3281118</a>] [<a href="https://doi.org/10.1007/BF02387549" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3281118">Lachman et al. (1988)</a> analyzed 20 cases and reviewed the literature. They suggested that the condition was often overdiagnosed. Significant radiologic features included an enlarged capital femoral epiphysis in early childhood, coxa vara, greater involvement of the distal femoral metaphysis than the proximal, anterior rib changes, and a normal spine. Chondroosseous morphology is not specific. Presentation in nonfamilial cases is no earlier than the second year of life. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3281118" 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="#10" class="mim-tip-reference" title="Hasegawa, T., Kozlowski, K., Nishimura, G., Hara, H., Hasegawa, Y., Aso, T., Koto, S., Nagai, T., Tsuchiya, Y. <strong>Japanese type of spondylo-metaphyseal dysplasia.</strong> Pediat. Radiol. 24: 194-197, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7936797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7936797</a>] [<a href="https://doi.org/10.1007/BF02012189" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7936797">Hasegawa et al. (1994)</a> reported a Japanese family in which 5 members (3 males, 2 females) had a spondylometaphyseal dysplasia (SMD) characterized clinically by short stature and bowed legs and radiographically by severe coxa vara, moderately severe metaphyseal changes, normal hands, and mild platyspondyly. The platyspondyly was observed only in the males, and the younger 2 boys (aged 11 and 6) had greater platyspondyly than that in their 43-year-old father. <a href="#10" class="mim-tip-reference" title="Hasegawa, T., Kozlowski, K., Nishimura, G., Hara, H., Hasegawa, Y., Aso, T., Koto, S., Nagai, T., Tsuchiya, Y. <strong>Japanese type of spondylo-metaphyseal dysplasia.</strong> Pediat. Radiol. 24: 194-197, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7936797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7936797</a>] [<a href="https://doi.org/10.1007/BF02012189" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7936797">Hasegawa et al. (1994)</a> considered this a novel form of SMD, which they called the Japanese type. <a href="#12" class="mim-tip-reference" title="Ikegawa, S., Nishimura, G., Nagai, T., Hasegawa, T., Ohashi, H., Nakamura, Y. <strong>Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.</strong> Am. J. Hum. Genet. 63: 1659-1662, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9837818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9837818</a>] [<a href="https://doi.org/10.1086/302158" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9837818">Ikegawa et al. (1998)</a> identified a mutation in the COL10A1 gene (<a href="/entry/120110#0016">120110.0016</a>), which had previously been found in a family with Schmid metaphyseal chondrodysplasia, in the family reported by <a href="#10" class="mim-tip-reference" title="Hasegawa, T., Kozlowski, K., Nishimura, G., Hara, H., Hasegawa, Y., Aso, T., Koto, S., Nagai, T., Tsuchiya, Y. <strong>Japanese type of spondylo-metaphyseal dysplasia.</strong> Pediat. Radiol. 24: 194-197, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7936797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7936797</a>] [<a href="https://doi.org/10.1007/BF02012189" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7936797">Hasegawa et al. (1994)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9837818+7936797" 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>Because of clinical, radiographic, and molecular similarities between the Japanese type of SMD reported by <a href="#10" class="mim-tip-reference" title="Hasegawa, T., Kozlowski, K., Nishimura, G., Hara, H., Hasegawa, Y., Aso, T., Koto, S., Nagai, T., Tsuchiya, Y. <strong>Japanese type of spondylo-metaphyseal dysplasia.</strong> Pediat. Radiol. 24: 194-197, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7936797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7936797</a>] [<a href="https://doi.org/10.1007/BF02012189" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7936797">Hasegawa et al. (1994)</a> and Schmid MCD, <a href="#19" class="mim-tip-reference" title="Savarirayan, R., Cormier-Daire, V., Lachman, R. S., Rimoin, D. L. <strong>Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the 'Japanese' type.</strong> Pediat. Radiol. 30: 460-463, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10929364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10929364</a>] [<a href="https://doi.org/10.1007/s002470000181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10929364">Savarirayan et al. (2000)</a> reviewed 33 cases of of 'typical' MCDS and found that 3 cases had radiographic evidence of spinal involvement comprising mild platyspondyly, vertebral body abnormalities, and end-plate irregularity. <a href="#19" class="mim-tip-reference" title="Savarirayan, R., Cormier-Daire, V., Lachman, R. S., Rimoin, D. L. <strong>Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the 'Japanese' type.</strong> Pediat. Radiol. 30: 460-463, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10929364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10929364</a>] [<a href="https://doi.org/10.1007/s002470000181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10929364">Savarirayan et al. (2000)</a> concluded that spinal changes are an uncommon but variable component of MCDS and that MCDS and the Japanese type of SMD are identical collagen type X disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10929364+7936797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Elliott, A. M., Field, F. M., Rimion, D. L., Lachman, R. S. <strong>Hand involvement in Schmid metaphyseal chondrodysplasia.</strong> Am. J. Med. Genet. 132A: 191-193, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15578582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15578582</a>] [<a href="https://doi.org/10.1002/ajmg.a.30433" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15578582">Elliott et al. (2005)</a> reviewed radiographs of 15 'classic' MCDS patients and found hand involvement in 7 cases (47%). The findings were subtle and consisted of shortening of the tubular bones and metaphyseal cupping of the proximal phalanges and metacarpals; these changes were more marked in younger patients. <a href="#8" class="mim-tip-reference" title="Elliott, A. M., Field, F. M., Rimion, D. L., Lachman, R. S. <strong>Hand involvement in Schmid metaphyseal chondrodysplasia.</strong> Am. J. Med. Genet. 132A: 191-193, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15578582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15578582</a>] [<a href="https://doi.org/10.1002/ajmg.a.30433" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15578582">Elliott et al. (2005)</a> concluded that mild hand involvement that appears to resolve with age is a common feature of MCDS and should not exclude the diagnosis in young patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15578582" 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 MCDS in the family studied by <a href="#24" class="mim-tip-reference" title="Warman, M. L., Abbott, M., Apte, S. S., Hefferon, T., McIntosh, I., Cohn, D. H., Hecht, J. T., Olsen, B. R., Francomano, C. A. <strong>A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.</strong> Nature Genet. 5: 79-82, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8220429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8220429</a>] [<a href="https://doi.org/10.1038/ng0993-79" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8220429">Warman et al. (1993)</a>, which was originally described by <a href="#21" class="mim-tip-reference" title="Stephens, F. E. <strong>An achondroplastic mutation and the nature of its inheritance.</strong> J. Hered. 34: 229-235, 1943."None>Stephens (1943)</a>, was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8220429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In the Mormon kindred reported by <a href="#21" class="mim-tip-reference" title="Stephens, F. E. <strong>An achondroplastic mutation and the nature of its inheritance.</strong> J. Hered. 34: 229-235, 1943."None>Stephens (1943)</a> and studied by <a href="#2" class="mim-tip-reference" title="Caffey, J. P., Christensen, W. R. <strong>Personal Communication.</strong> Pittsburgh, Pa. and Salt Lake City, Utah 1963."None>Caffey and Christensen (1963)</a>, <a href="#24" class="mim-tip-reference" title="Warman, M. L., Abbott, M., Apte, S. S., Hefferon, T., McIntosh, I., Cohn, D. H., Hecht, J. T., Olsen, B. R., Francomano, C. A. <strong>A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.</strong> Nature Genet. 5: 79-82, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8220429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8220429</a>] [<a href="https://doi.org/10.1038/ng0993-79" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8220429">Warman et al. (1993)</a> identified a 13-bp deletion in heterozygous state in COL10A1 gene (<a href="/entry/120110#0001">120110.0001</a>). The mutation produced a frameshift that altered the highly conserved C-terminal domain of the alpha-1(X) chain and reduced the length of the peptide by 9 residues. Type X collagen is a homotrimeric molecule. Its restricted expression in hypertrophic chondrocytes and studies in transgenic mice with a dominant-negative mutation in type X collagen support its role in endochondral ossification (<a href="#13" class="mim-tip-reference" title="Jacenko, O., Lu Valle, P. A., Olsen, B. R. <strong>Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition.</strong> Nature 365: 56-61, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8361538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8361538</a>] [<a href="https://doi.org/10.1038/365056a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8361538">Jacenko et al., 1993</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8220429+8361538" 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="#23" class="mim-tip-reference" title="Wallis, G. A., Rash, B., Sykes, B., Bonaventure, J., Maroteaux, P., Zabel, B., Wynne-Davies, R., Grant, M. E., Boot-Handford, R. P. <strong>Mutations within the gene encoding the alpha-1(X) chain of type X collagen (COL1A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.</strong> J. Med. Genet. 33: 450-457, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8782043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8782043</a>] [<a href="https://doi.org/10.1136/jmg.33.6.450" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8782043">Wallis et al. (1996)</a> noted that at least 17 different point mutations and deletions in the region of the COL10A1 gene encoding the carboxy-terminal (NC1) domain had been reported in patients with MCDS. To determine whether mutations in other regions of the gene can cause MCDS or comparable phenotypes, <a href="#23" class="mim-tip-reference" title="Wallis, G. A., Rash, B., Sykes, B., Bonaventure, J., Maroteaux, P., Zabel, B., Wynne-Davies, R., Grant, M. E., Boot-Handford, R. P. <strong>Mutations within the gene encoding the alpha-1(X) chain of type X collagen (COL1A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.</strong> J. Med. Genet. 33: 450-457, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8782043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8782043</a>] [<a href="https://doi.org/10.1136/jmg.33.6.450" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8782043">Wallis et al. (1996)</a> used PCR and SSCP techniques in the study of 5 patients with typical MCDS, 1 patient with atypical MCDS, and 9 patients with other forms of metaphyseal chondrodysplasia. Four new mutations in the NC1 domain were found in 4 patients with typical MCDS. Mutations in the COL10A1 gene were not found in 1 typical and 1 atypical case of MCDS or in cases of other metaphyseal chondrodysplasias. <a href="#23" class="mim-tip-reference" title="Wallis, G. A., Rash, B., Sykes, B., Bonaventure, J., Maroteaux, P., Zabel, B., Wynne-Davies, R., Grant, M. E., Boot-Handford, R. P. <strong>Mutations within the gene encoding the alpha-1(X) chain of type X collagen (COL1A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.</strong> J. Med. Genet. 33: 450-457, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8782043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8782043</a>] [<a href="https://doi.org/10.1136/jmg.33.6.450" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8782043">Wallis et al. (1996)</a> contended that the restricted distribution of COL10A1 mutations in the region encoding the NC1 domain argues against haplotype insufficiency being the mutation mechanism in this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8782043" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 MCDS patients with COL10A1 nonsense mutations, trp611 to ter (<a href="/entry/120110#0019">120110.0019</a>) and tyr632 to ter (<a href="/entry/120110#0015">120110.0015</a>), <a href="#1" class="mim-tip-reference" title="Bateman, J. F., Freddi, S., Nattrass, G., Savarirayan, R. <strong>Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficie ncy in Schmid metaphyseal chondrodysplasia cartilage.</strong> Hum. Molec. Genet. 12: 217-225, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12554676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12554676</a>] [<a href="https://doi.org/10.1093/hmg/ddg054" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12554676">Bateman et al. (2003)</a> showed that the mutated alleles underwent complete nonsense-mediated mRNA decay (NMD) in cartilage, but not in lymphoblasts or bone cells. The authors suggested that novel RNA surveillance mechanisms may exist in cartilage, and that tissue specificity of NMD could be of importance in understanding the molecular pathology of nonsense mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12554676" 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="#15" class="mim-tip-reference" title="Makitie, O., Susic, M., Ward, L., Barclay, C., Glorieux, F. H., Cole, W. G. <strong>Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients.</strong> Am. J. Med. Genet. 137A: 241-248, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16088909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16088909</a>] [<a href="https://doi.org/10.1002/ajmg.a.30855" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16088909">Makitie et al. (2005)</a> reported 10 patients with MCDS and COL10A1 mutations in whom the most characteristic radiographic findings were found in the proximal femoral metaphysis, which showed metaphyseal irregularity, coxa vara, and a vertical growth plate in all the patients. One patient had a significantly milder presentation, characterized by normal height, late onset of symptoms, and lack of lower limb deformity. <a href="#15" class="mim-tip-reference" title="Makitie, O., Susic, M., Ward, L., Barclay, C., Glorieux, F. H., Cole, W. G. <strong>Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients.</strong> Am. J. Med. Genet. 137A: 241-248, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16088909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16088909</a>] [<a href="https://doi.org/10.1002/ajmg.a.30855" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16088909">Makitie et al. (2005)</a> suggested that the clinical variability in severity of COL10A1-associated skeletal dysplasia might be greater than previously thought. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16088909" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 13-year-old boy with MCDS, <a href="#11" class="mim-tip-reference" title="Ho, M. S. P., Tsang, K. Y., Lo, R. L. K., Susic, M., Makitie, O., Chan, T. W. Y., Ng, V. C. W., Sillence, D. O., Boot-Handford, R. P., Gibson, G., Cheung, K. M. C., Cole, W. G., Cheah, K. S. E., Chan, D. <strong>COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.</strong> Hum. Molec. Genet. 16: 1201-1215, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17403716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17403716</a>] [<a href="https://doi.org/10.1093/hmg/ddm067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17403716">Ho et al. (2007)</a> identified heterozygosity for a nonsense mutation in the COL10A1 gene (Y663X; <a href="/entry/120110#0020">120110.0020</a>). Approximately 50% of mutant Y663X mRNA was translated into truncated alpha-1(X) chains that were misfolded, unable to assemble into trimers, and interfered with the assembly of normal alpha-1(X) chains into trimers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17403716" 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="#11" class="mim-tip-reference" title="Ho, M. S. P., Tsang, K. Y., Lo, R. L. K., Susic, M., Makitie, O., Chan, T. W. Y., Ng, V. C. W., Sillence, D. O., Boot-Handford, R. P., Gibson, G., Cheung, K. M. C., Cole, W. G., Cheah, K. S. E., Chan, D. <strong>COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.</strong> Hum. Molec. Genet. 16: 1201-1215, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17403716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17403716</a>] [<a href="https://doi.org/10.1093/hmg/ddm067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17403716">Ho et al. (2007)</a> studied transgenic mice bearing the equivalent of a human 1859delC frameshift mutation (<a href="/entry/120110#0005">120110.0005</a>), which displayed typical characteristics of MCDS. The degree of expansion of the hypertrophic zones was transgene dosage-dependent, and transgenic chondrocytes in the lower region of the expanded hypertrophic zone expressed markers uncharacteristic of hypertrophic chondrocytes, indicating that differentiation was disrupted. Misfolded mutant alpha-1(X) chains were retained within the endoplasmic reticulum (ER) of hypertrophic chondrocytes, activating the unfolded protein response. <a href="#11" class="mim-tip-reference" title="Ho, M. S. P., Tsang, K. Y., Lo, R. L. K., Susic, M., Makitie, O., Chan, T. W. Y., Ng, V. C. W., Sillence, D. O., Boot-Handford, R. P., Gibson, G., Cheung, K. M. C., Cole, W. G., Cheah, K. S. E., Chan, D. <strong>COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.</strong> Hum. Molec. Genet. 16: 1201-1215, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17403716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17403716</a>] [<a href="https://doi.org/10.1093/hmg/ddm067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17403716">Ho et al. (2007)</a> suggested that a gain-of-function effect, linked to the activation of ER-stress response and altered chondrocyte differentiation, was a possible molecular pathogenetic mechanism for MCDS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17403716" 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>Schmid metaphyseal chondrodysplasia was formerly known as metaphyseal dysostosis. The disorder is not a true dysostosis (since it is not primarily a disorder of bone formation), nor is the primary defect in the metaphyses.</p>
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<a href="#Daeschner1960" class="mim-tip-reference" title="Daeschner, C. W., Singleton, E. B., Hill, L. L., Dodge, W. F. <strong>Metaphyseal dysostosis.</strong> J. Pediat. 57: 844-854, 1960.">Daeschner et al. (1960)</a>; <a href="#Dent1964" class="mim-tip-reference" title="Dent, C. E., Normand, I. C. S. <strong>Metaphyseal dysostosis, type Schmid.</strong> Arch. Dis. Child. 39: 444-454, 1964.">Dent and Normand (1964)</a>; <a href="#Miller1964" class="mim-tip-reference" title="Miller, S. M., Paul, L. W. <strong>Roentgen observations in familial metaphyseal dysostosis.</strong> Radiology 83: 665-673, 1964.">Miller and Paul
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(1964)</a>; <a href="#Peterson1962" class="mim-tip-reference" title="Peterson, J. C. <strong>Metaphyseal dysostosis: questionably a form of vitamin D-resistant rickets.</strong> J. Pediat. 60: 656-663, 1962.">Peterson (1962)</a>; <a href="#Schmid1949" class="mim-tip-reference" title="Schmid, F. <strong>Beitrag zur Dysostosis enchondralis metaphysarea.</strong> Mschr. Kinderheilk. 97: 393-397, 1949.">Schmid (1949)</a>; <a href="#Stickler1962" class="mim-tip-reference" title="Stickler, G. B., Maher, F. T., Hunt, J. C., Burke, E. C., Rosevear, J. W. <strong>Familial bone disease resembling rickets (hereditary metaphyseal dysostosis).</strong> Pediatrics 29: 996-1004, 1962.">Stickler et al. (1962)</a>
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[<a href="https://doi.org/10.1016/s0022-3476(62)80090-0" target="_blank">Full Text</a>]
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<a id="18" class="mim-anchor"></a>
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<a id="Rosenbloom1965" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rosenbloom, A. L., Smith, D. W.
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<strong>The natural history of metaphyseal dysostosis.</strong>
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J. Pediat. 66: 857-868, 1965.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14279845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14279845</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14279845" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(65)80060-9" target="_blank">Full Text</a>]
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<a id="19" class="mim-anchor"></a>
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<a id="Savarirayan2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Savarirayan, R., Cormier-Daire, V., Lachman, R. S., Rimoin, D. L.
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<strong>Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the 'Japanese' type.</strong>
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Pediat. Radiol. 30: 460-463, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10929364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10929364</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10929364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s002470000181" target="_blank">Full Text</a>]
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<li>
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<a id="20" class="mim-anchor"></a>
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<a id="Schmid1949" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schmid, F.
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<strong>Beitrag zur Dysostosis enchondralis metaphysarea.</strong>
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Mschr. Kinderheilk. 97: 393-397, 1949.
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</p>
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="Stephens1943" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stephens, F. E.
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<strong>An achondroplastic mutation and the nature of its inheritance.</strong>
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J. Hered. 34: 229-235, 1943.
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</p>
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<a id="22" class="mim-anchor"></a>
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<a id="Stickler1962" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stickler, G. B., Maher, F. T., Hunt, J. C., Burke, E. C., Rosevear, J. W.
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<strong>Familial bone disease resembling rickets (hereditary metaphyseal dysostosis).</strong>
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Pediatrics 29: 996-1004, 1962.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13917203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13917203</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13917203" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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<a id="23" class="mim-anchor"></a>
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<a id="Wallis1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wallis, G. A., Rash, B., Sykes, B., Bonaventure, J., Maroteaux, P., Zabel, B., Wynne-Davies, R., Grant, M. E., Boot-Handford, R. P.
|
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<strong>Mutations within the gene encoding the alpha-1(X) chain of type X collagen (COL1A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.</strong>
|
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J. Med. Genet. 33: 450-457, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8782043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8782043</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8782043" 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.33.6.450" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="24" class="mim-anchor"></a>
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<a id="Warman1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Warman, M. L., Abbott, M., Apte, S. S., Hefferon, T., McIntosh, I., Cohn, D. H., Hecht, J. T., Olsen, B. R., Francomano, C. A.
|
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<strong>A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.</strong>
|
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Nature Genet. 5: 79-82, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8220429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8220429</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8220429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0993-79" target="_blank">Full Text</a>]
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</p>
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 1/20/2011
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Kelly A. Przylepa - updated : 3/14/2007<br>Marla J. F. O'Neill - updated : 10/3/2005<br>Marla J. F. O'Neill - updated : 1/28/2005<br>George E. Tiller - updated : 11/15/2004<br>Iosif W. Lurie - updated : 7/4/1996
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</span>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 12/09/2022
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 08/18/2016<br>carol : 05/19/2016<br>wwang : 2/3/2011<br>terry : 1/20/2011<br>terry : 1/13/2011<br>carol : 3/14/2007<br>wwang : 10/10/2005<br>terry : 10/3/2005<br>carol : 2/2/2005<br>terry : 1/28/2005<br>alopez : 11/15/2004<br>dkim : 9/11/1998<br>carol : 7/4/1996<br>carol : 1/4/1995<br>mimadm : 11/6/1994<br>jason : 7/18/1994<br>davew : 7/14/1994<br>terry : 5/12/1994<br>warfield : 4/21/1994
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</span>
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</div>
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<div class="container visible-print-block">
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 156500
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS
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</h3>
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</div>
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<div>
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<br />
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE
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<div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 29248006;
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<strong>ORPHA:</strong> 174;
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<strong>DO:</strong> 0080021;
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<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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Gene/Locus <br /> MIM number
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<tr>
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<td>
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<span class="mim-font">
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6q22.1
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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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Metaphyseal chondrodysplasia, Schmid type
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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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156500
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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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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</td>
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<td>
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<span class="mim-font">
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COL10A1
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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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120110
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that Schmid-type metaphyseal chondrodysplasia (MCDS) is caused by heterozygous mutation in the COL10A1 gene (120110) on chromosome 6q22.</p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Schmid-type metaphyseal chondrodysplasia (MCDS) is characterized by short stature and bowing of the long bones; radiographic features include widening and irregularity of the growth plates, especially in the distal and proximal femora (summary by Makitie et al., 2005). </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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<span class="mim-text-font">
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<p>Stephens (1943) reported a Mormon kindred in which over 40 members of 4 generations were affected with what he considered to be achondroplasia. The x-ray findings as demonstrated in his figures and as reviewed by Caffey and Christensen (1963) were, however, those of metaphyseal chondrodysplasia. In a 3-year-old child the interpediculate distances and greater sciatic groove were normal and the typical metaphyseal changes were demonstrated. Affected women went through vaginal deliveries successfully and were usually accompanied only by a midwife. Stephens (1943) suggested that the original mutation could be identified. The first affected ancestor, born in 1833, was said to have normal parents and 11 unaffected sibs.</p><p>Rosenbloom and Smith (1965) described 24 affected persons in 1 kindred. In a girl with metaphyseal chondrodysplasia said to be intermediate in phenotype between the Jansen (156400) and Schmid types, Cooper et al. (1973) demonstrated distention of the rough-surfaced endoplasmic reticulum cisternae of chondrocytes due to accumulation of what appeared to be a protein. Cooper and Ponseti (1973) studied an affected girl. Electron microscopy of her chondrocytes from the iliac crest area and ulnar epiphyseal plate revealed dilated rough endoplasmic reticulum (RER) cisternae containing a granular material. Cartilage matrix collagen and osteoid appeared to be normal. Osteoblasts and osteocytes showed a slight degree of RER dilatation. Gorlin (1985) suggested that the true diagnosis in the family reported by David and Palmer (1958) was oculodentoosseous dysplasia (164200). </p><p>Lachman et al. (1988) analyzed 20 cases and reviewed the literature. They suggested that the condition was often overdiagnosed. Significant radiologic features included an enlarged capital femoral epiphysis in early childhood, coxa vara, greater involvement of the distal femoral metaphysis than the proximal, anterior rib changes, and a normal spine. Chondroosseous morphology is not specific. Presentation in nonfamilial cases is no earlier than the second year of life. </p><p>Hasegawa et al. (1994) reported a Japanese family in which 5 members (3 males, 2 females) had a spondylometaphyseal dysplasia (SMD) characterized clinically by short stature and bowed legs and radiographically by severe coxa vara, moderately severe metaphyseal changes, normal hands, and mild platyspondyly. The platyspondyly was observed only in the males, and the younger 2 boys (aged 11 and 6) had greater platyspondyly than that in their 43-year-old father. Hasegawa et al. (1994) considered this a novel form of SMD, which they called the Japanese type. Ikegawa et al. (1998) identified a mutation in the COL10A1 gene (120110.0016), which had previously been found in a family with Schmid metaphyseal chondrodysplasia, in the family reported by Hasegawa et al. (1994). </p><p>Because of clinical, radiographic, and molecular similarities between the Japanese type of SMD reported by Hasegawa et al. (1994) and Schmid MCD, Savarirayan et al. (2000) reviewed 33 cases of of 'typical' MCDS and found that 3 cases had radiographic evidence of spinal involvement comprising mild platyspondyly, vertebral body abnormalities, and end-plate irregularity. Savarirayan et al. (2000) concluded that spinal changes are an uncommon but variable component of MCDS and that MCDS and the Japanese type of SMD are identical collagen type X disorders. </p><p>Elliott et al. (2005) reviewed radiographs of 15 'classic' MCDS patients and found hand involvement in 7 cases (47%). The findings were subtle and consisted of shortening of the tubular bones and metaphyseal cupping of the proximal phalanges and metacarpals; these changes were more marked in younger patients. Elliott et al. (2005) concluded that mild hand involvement that appears to resolve with age is a common feature of MCDS and should not exclude the diagnosis in young patients. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of MCDS in the family studied by Warman et al. (1993), which was originally described by Stephens (1943), was consistent with autosomal dominant inheritance. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In the Mormon kindred reported by Stephens (1943) and studied by Caffey and Christensen (1963), Warman et al. (1993) identified a 13-bp deletion in heterozygous state in COL10A1 gene (120110.0001). The mutation produced a frameshift that altered the highly conserved C-terminal domain of the alpha-1(X) chain and reduced the length of the peptide by 9 residues. Type X collagen is a homotrimeric molecule. Its restricted expression in hypertrophic chondrocytes and studies in transgenic mice with a dominant-negative mutation in type X collagen support its role in endochondral ossification (Jacenko et al., 1993). </p><p>Wallis et al. (1996) noted that at least 17 different point mutations and deletions in the region of the COL10A1 gene encoding the carboxy-terminal (NC1) domain had been reported in patients with MCDS. To determine whether mutations in other regions of the gene can cause MCDS or comparable phenotypes, Wallis et al. (1996) used PCR and SSCP techniques in the study of 5 patients with typical MCDS, 1 patient with atypical MCDS, and 9 patients with other forms of metaphyseal chondrodysplasia. Four new mutations in the NC1 domain were found in 4 patients with typical MCDS. Mutations in the COL10A1 gene were not found in 1 typical and 1 atypical case of MCDS or in cases of other metaphyseal chondrodysplasias. Wallis et al. (1996) contended that the restricted distribution of COL10A1 mutations in the region encoding the NC1 domain argues against haplotype insufficiency being the mutation mechanism in this disorder. </p><p>In 2 MCDS patients with COL10A1 nonsense mutations, trp611 to ter (120110.0019) and tyr632 to ter (120110.0015), Bateman et al. (2003) showed that the mutated alleles underwent complete nonsense-mediated mRNA decay (NMD) in cartilage, but not in lymphoblasts or bone cells. The authors suggested that novel RNA surveillance mechanisms may exist in cartilage, and that tissue specificity of NMD could be of importance in understanding the molecular pathology of nonsense mutations. </p><p>Makitie et al. (2005) reported 10 patients with MCDS and COL10A1 mutations in whom the most characteristic radiographic findings were found in the proximal femoral metaphysis, which showed metaphyseal irregularity, coxa vara, and a vertical growth plate in all the patients. One patient had a significantly milder presentation, characterized by normal height, late onset of symptoms, and lack of lower limb deformity. Makitie et al. (2005) suggested that the clinical variability in severity of COL10A1-associated skeletal dysplasia might be greater than previously thought. </p><p>In a 13-year-old boy with MCDS, Ho et al. (2007) identified heterozygosity for a nonsense mutation in the COL10A1 gene (Y663X; 120110.0020). Approximately 50% of mutant Y663X mRNA was translated into truncated alpha-1(X) chains that were misfolded, unable to assemble into trimers, and interfered with the assembly of normal alpha-1(X) chains into trimers. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Ho et al. (2007) studied transgenic mice bearing the equivalent of a human 1859delC frameshift mutation (120110.0005), which displayed typical characteristics of MCDS. The degree of expansion of the hypertrophic zones was transgene dosage-dependent, and transgenic chondrocytes in the lower region of the expanded hypertrophic zone expressed markers uncharacteristic of hypertrophic chondrocytes, indicating that differentiation was disrupted. Misfolded mutant alpha-1(X) chains were retained within the endoplasmic reticulum (ER) of hypertrophic chondrocytes, activating the unfolded protein response. Ho et al. (2007) suggested that a gain-of-function effect, linked to the activation of ER-stress response and altered chondrocyte differentiation, was a possible molecular pathogenetic mechanism for MCDS. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Schmid metaphyseal chondrodysplasia was formerly known as metaphyseal dysostosis. The disorder is not a true dysostosis (since it is not primarily a disorder of bone formation), nor is the primary defect in the metaphyses.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>See Also:</strong>
|
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</span>
|
|
</h4>
|
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<span class="mim-text-font">
|
|
Daeschner et al. (1960); Dent and Normand (1964); Miller and Paul
|
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(1964); Peterson (1962); Schmid (1949); Stickler et al. (1962)
|
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>REFERENCES</strong>
|
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Bateman, J. F., Freddi, S., Nattrass, G., Savarirayan, R.
|
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<strong>Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficie ncy in Schmid metaphyseal chondrodysplasia cartilage.</strong>
|
|
Hum. Molec. Genet. 12: 217-225, 2003.
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[PubMed: 12554676]
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[Full Text: https://doi.org/10.1093/hmg/ddg054]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Caffey, J. P., Christensen, W. R.
|
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<strong>Personal Communication.</strong>
|
|
Pittsburgh, Pa. and Salt Lake City, Utah 1963.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Cooper, R. R., Pedrini-Mille, A., Ponseti, I. V.
|
|
<strong>Metaphyseal dysostosis: a rough surfaced endoplasmic reticulum storage defect.</strong>
|
|
Lab. Invest. 28: 119-125, 1973.
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[PubMed: 4265987]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Cooper, R. R., Ponseti, I. V.
|
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<strong>Metaphyseal dysostosis: description of an ultrastructural defect in the epiphyseal plate chondrocytes. Case report.</strong>
|
|
J. Bone Joint Surg. Am. 55: 485-495, 1973.
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[PubMed: 4349945]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Daeschner, C. W., Singleton, E. B., Hill, L. L., Dodge, W. F.
|
|
<strong>Metaphyseal dysostosis.</strong>
|
|
J. Pediat. 57: 844-854, 1960.
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[PubMed: 13719292]
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[Full Text: https://doi.org/10.1016/s0022-3476(60)80135-7]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
David, J. E. A., Palmer, P. E. S.
|
|
<strong>Familial metaphysial dysplasia.</strong>
|
|
J. Bone Joint Surg. Br. 40: 86-93, 1958.
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[PubMed: 13513655]
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[Full Text: https://doi.org/10.1302/0301-620X.40B1.86]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Dent, C. E., Normand, I. C. S.
|
|
<strong>Metaphyseal dysostosis, type Schmid.</strong>
|
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Arch. Dis. Child. 39: 444-454, 1964.
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[PubMed: 14223656]
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[Full Text: https://doi.org/10.1136/adc.39.207.444]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Elliott, A. M., Field, F. M., Rimion, D. L., Lachman, R. S.
|
|
<strong>Hand involvement in Schmid metaphyseal chondrodysplasia.</strong>
|
|
Am. J. Med. Genet. 132A: 191-193, 2005.
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|
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[PubMed: 15578582]
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[Full Text: https://doi.org/10.1002/ajmg.a.30433]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Gorlin, R. J.
|
|
<strong>Personal Communication.</strong>
|
|
Minneapolis, Minn. 2/25/1985.
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Hasegawa, T., Kozlowski, K., Nishimura, G., Hara, H., Hasegawa, Y., Aso, T., Koto, S., Nagai, T., Tsuchiya, Y.
|
|
<strong>Japanese type of spondylo-metaphyseal dysplasia.</strong>
|
|
Pediat. Radiol. 24: 194-197, 1994.
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|
|
[PubMed: 7936797]
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[Full Text: https://doi.org/10.1007/BF02012189]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Ho, M. S. P., Tsang, K. Y., Lo, R. L. K., Susic, M., Makitie, O., Chan, T. W. Y., Ng, V. C. W., Sillence, D. O., Boot-Handford, R. P., Gibson, G., Cheung, K. M. C., Cole, W. G., Cheah, K. S. E., Chan, D.
|
|
<strong>COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.</strong>
|
|
Hum. Molec. Genet. 16: 1201-1215, 2007.
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[PubMed: 17403716]
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[Full Text: https://doi.org/10.1093/hmg/ddm067]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Ikegawa, S., Nishimura, G., Nagai, T., Hasegawa, T., Ohashi, H., Nakamura, Y.
|
|
<strong>Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.</strong>
|
|
Am. J. Hum. Genet. 63: 1659-1662, 1998.
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[PubMed: 9837818]
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[Full Text: https://doi.org/10.1086/302158]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Jacenko, O., Lu Valle, P. A., Olsen, B. R.
|
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<strong>Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition.</strong>
|
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Nature 365: 56-61, 1993.
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[PubMed: 8361538]
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[Full Text: https://doi.org/10.1038/365056a0]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Lachman, R. S., Rimoin, D. L., Spranger, J.
|
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<strong>Metaphyseal chondrodysplasia, Schmid type: clinical and radiographic delineation with a review of the literature.</strong>
|
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Pediat. Radiol. 18: 93-102, 1988.
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[PubMed: 3281118]
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[Full Text: https://doi.org/10.1007/BF02387549]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Makitie, O., Susic, M., Ward, L., Barclay, C., Glorieux, F. H., Cole, W. G.
|
|
<strong>Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients.</strong>
|
|
Am. J. Med. Genet. 137A: 241-248, 2005.
|
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|
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|
|
[PubMed: 16088909]
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[Full Text: https://doi.org/10.1002/ajmg.a.30855]
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</p>
|
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</li>
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Miller, S. M., Paul, L. W.
|
|
<strong>Roentgen observations in familial metaphyseal dysostosis.</strong>
|
|
Radiology 83: 665-673, 1964.
|
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|
|
[PubMed: 14227699]
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|
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[Full Text: https://doi.org/10.1148/83.4.665]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Peterson, J. C.
|
|
<strong>Metaphyseal dysostosis: questionably a form of vitamin D-resistant rickets.</strong>
|
|
J. Pediat. 60: 656-663, 1962.
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|
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[PubMed: 14485788]
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[Full Text: https://doi.org/10.1016/s0022-3476(62)80090-0]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Rosenbloom, A. L., Smith, D. W.
|
|
<strong>The natural history of metaphyseal dysostosis.</strong>
|
|
J. Pediat. 66: 857-868, 1965.
|
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|
|
[PubMed: 14279845]
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[Full Text: https://doi.org/10.1016/s0022-3476(65)80060-9]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Savarirayan, R., Cormier-Daire, V., Lachman, R. S., Rimoin, D. L.
|
|
<strong>Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the 'Japanese' type.</strong>
|
|
Pediat. Radiol. 30: 460-463, 2000.
|
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|
|
[PubMed: 10929364]
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[Full Text: https://doi.org/10.1007/s002470000181]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Schmid, F.
|
|
<strong>Beitrag zur Dysostosis enchondralis metaphysarea.</strong>
|
|
Mschr. Kinderheilk. 97: 393-397, 1949.
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Stephens, F. E.
|
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<strong>An achondroplastic mutation and the nature of its inheritance.</strong>
|
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J. Hered. 34: 229-235, 1943.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Stickler, G. B., Maher, F. T., Hunt, J. C., Burke, E. C., Rosevear, J. W.
|
|
<strong>Familial bone disease resembling rickets (hereditary metaphyseal dysostosis).</strong>
|
|
Pediatrics 29: 996-1004, 1962.
|
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|
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|
|
[PubMed: 13917203]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Wallis, G. A., Rash, B., Sykes, B., Bonaventure, J., Maroteaux, P., Zabel, B., Wynne-Davies, R., Grant, M. E., Boot-Handford, R. P.
|
|
<strong>Mutations within the gene encoding the alpha-1(X) chain of type X collagen (COL1A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.</strong>
|
|
J. Med. Genet. 33: 450-457, 1996.
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[PubMed: 8782043]
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[Full Text: https://doi.org/10.1136/jmg.33.6.450]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Warman, M. L., Abbott, M., Apte, S. S., Hefferon, T., McIntosh, I., Cohn, D. H., Hecht, J. T., Olsen, B. R., Francomano, C. A.
|
|
<strong>A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.</strong>
|
|
Nature Genet. 5: 79-82, 1993.
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|
|
[PubMed: 8220429]
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[Full Text: https://doi.org/10.1038/ng0993-79]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Marla J. F. O'Neill - updated : 1/20/2011<br>Kelly A. Przylepa - updated : 3/14/2007<br>Marla J. F. O'Neill - updated : 10/3/2005<br>Marla J. F. O'Neill - updated : 1/28/2005<br>George E. Tiller - updated : 11/15/2004<br>Iosif W. Lurie - updated : 7/4/1996
|
|
</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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<br />
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</div>
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<div>
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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
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</span>
|
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/2/1986
|
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</span>
|
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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