2704 lines
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Entry
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- #113500 - BRACHYOLMIA TYPE 3; BCYM3
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- OMIM
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<p>
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<span class="h4">#113500</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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<li role="presentation">
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<a href="/clinicalSynopsis/113500"><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="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</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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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<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-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=BRACHYOLMIA 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=12241&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/NBK201366/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/944" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=113500[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=93304" 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/2723c0d6-9055-4d0e-a032-2241d1e03121/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://omia.org/OMIA000319/" 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> 717264003<br />
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<strong>ORPHA:</strong> 93304<br />
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<strong>DO:</strong> 0050690<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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113500
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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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BRACHYOLMIA TYPE 3; BCYM3
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</h3>
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</div>
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<div>
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<br />
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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BRACHYOLMIA, AUTOSOMAL DOMINANT<br />
|
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BRACHYRACHIA
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
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</th>
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<th>
|
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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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/12/793?start=-3&limit=10&highlight=793">
|
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12q24.11
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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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Brachyolmia type 3
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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/113500"> 113500 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<td>
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<span class="mim-font">
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TRPV4
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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/605427"> 605427 </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 class="btn-group ">
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<a href="/clinicalSynopsis/113500" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/113500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/113500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
|
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</div>
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|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Normal birth length <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853173&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853173</a>]</span><br /> -
|
|
Short stature, disproportionate (short trunk), identifiable in childhood <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3148833&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3148833</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008922" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008922</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
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|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hyperopia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38101003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38101003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H52.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H52.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/367.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">367.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020490&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020490</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000540</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000540</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Neck </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short neck <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95427009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95427009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521525&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521525</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Neck,Short-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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> External Features </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Barrel-shaped chest <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/24228002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">24228002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0264172&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0264172</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001552" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001552</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001552" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001552</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Gibbus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414564002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414564002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413428007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413428007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M40.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M40.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/737.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">737.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022821&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022821</a>, <a href="https://bioportal.bioontology.org/search?q=C0022822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span><br /> -
|
|
Kyphosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71311003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71311003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414564002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414564002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413428007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413428007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M40.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M40.20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.41</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/737.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">737.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265673&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265673</a>, <a href="https://bioportal.bioontology.org/search?q=C0022821&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022821</a>, <a href="https://bioportal.bioontology.org/search?q=C2115817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2115817</a>, <a href="https://bioportal.bioontology.org/search?q=C0022822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span><br /> -
|
|
Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br /> -
|
|
Marked platyspondyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862080&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862080</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000926" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000926</a>]</span><br /> -
|
|
Overfaced pedicles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5562880&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5562880</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">
|
|
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- Short femoral neck <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836184&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836184</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100864" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100864</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100864" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100864</a>]</span><br /> -
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Irregular proximal femoral metaphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836320&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836320</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003411" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003411</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003411" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003411</a>]</span><br /> -
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Supraacetabular notches <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5562881&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5562881</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Hands </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Clinodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17268007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17268007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551485</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Clinodactyly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
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Brachydactyly, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864299&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864299</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43476002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43476002</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> NEUROLOGIC </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Central Nervous System </em>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Normal intelligence <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26941006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26941006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423900&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423900</a>]</span><br /> -
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Spinal cord compression <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71286001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71286001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G95.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G95.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0037926&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037926</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002176" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002176</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002176" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002176</a>]</span><br /> -
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Paresthesias (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91019004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91019004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030554&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030554</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003401" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003401</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003401" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003401</a>]</span><br /> -
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Increased heat sensitivity (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5562879&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5562879</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Inter- and intrafamilial phenotypic variability<br /> -
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Height ranges from normal to moderate short stature with short trunk<br /> -
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Some patients experience significant musculoskeletal pain<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the transient receptor potential cation channel, subfamily V, member 4 gene (TRPV4, <a href="/entry/605427#0001">605427.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that brachyolmia type 3 (BCYM3) is caused by heterozygous mutation in the TRPV4 gene (<a href="/entry/605427">605427</a>) on chromosome 12q24.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Type 3 brachyolmia (BCYM3) is an autosomal dominant skeletal dysplasia affecting the spine characterized by severe kyphoscoliosis and flattened, irregular cervical vertebrae (summary by <a href="#8" class="mim-tip-reference" title="Rock, M. J., Prenen, J., Funari, V. A., Funari, T. L., Merriman, B., Nelson, S. F., Lachman, R. S., Wilcox, W. R., Reyno, S., Quadrelli, R., Vaglio, A., Owsianik, G., Janssens, A., Voets, T., Ikegawa, S., Nagai, T., Rimoin, D. L., Nilius, B., Cohn, D. H. <strong>Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.</strong> Nature Genet. 40: 999-1003, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18587396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18587396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18587396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18587396">Rock et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18587396" 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>For a discussion of heterogeneity of brachyolmia, see <a href="/entry/271530">271530</a>.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#6" class="mim-tip-reference" title="Lenz, W. <strong>Anomalien des Wachstums und der Koerperform. In: Becker, P. E.: Ein kurzes Handbuch in fuenf Baenden. Vol. 2.</strong> Stuttgart: Georg Thieme Verlag (pub.) 1964. Pp. 88-89. Note: Fig. 30."None>Lenz (1964)</a> observed father and son with a very short spine and deformity of the anterior chest rather like that in Morquio disease. Except for marked changes in the femoral epiphyses, the extremities were normal. The vertebral bodies were small, irregular, and radiolucent. Perhaps the family of <a href="#7" class="mim-tip-reference" title="Lomas, J. J. P., Boyle, A. C. <strong>Osteo-chondrodystrophy (Morquio's disease) in three generations.</strong> Lancet 274: 430-432, 1959. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14418038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14418038</a>] [<a href="https://doi.org/10.1016/s0140-6736(59)90418-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14418038">Lomas and Boyle (1959)</a> in which 3 generations were affected had the same condition. See also the dominant type of spondyloepiphyseal dysplasia tarda (<a href="/entry/184100">184100</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14418038" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Kozlowski, K., Beemer, F. A., Bens, G., Dijkstra, P. F., Iannaccone, G., Emons, D., Lopez-Ruiz, P., Masel, J., van Nieuwenhuizen, O., Rodriguez-Barrionuevo, C. <strong>Spondylo-metaphyseal dysplasia: report of 7 cases and essay of classification. In: Papadatos, C. J.; Bartsocas, C. S. (eds.): Skeletal Dysplasias.</strong> New York: Alan R. Liss (pub.) 1982. Pp. 89-101."None>Kozlowski et al. (1982)</a> stated that pure brachyolmia does not exist and that metaphyseal involvement may be minimal and scattered but always is present along with involvement of the spine in cases labeled brachyolmia. <a href="#9" class="mim-tip-reference" title="Shohat, M., Lachman, R., Gruber, H. E., Rimoin, D. L. <strong>Brachyolmia: radiographic and genetic evidence of heterogeneity.</strong> Am. J. Med. Genet. 33: 209-219, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2669482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2669482</a>] [<a href="https://doi.org/10.1002/ajmg.1320330214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2669482">Shohat et al. (1989)</a>, however, described a mother and son with severe spinal changes with no metaphyseal or epiphyseal changes in the long bones. These patients showed the most severe scoliosis of the patients they studied, and demonstrated marked cervical vertebral flattening and irregularity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2669482" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Gardner, J., Beighton, P. <strong>Brachyolmia: an autosomal dominant form.</strong> Am. J. Med. Genet. 49: 308-312, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8209891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8209891</a>] [<a href="https://doi.org/10.1002/ajmg.1320490313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8209891">Gardner and Beighton (1994)</a> investigated the cases of a mother and son of South African Xhosa stock who presented with short-trunk dwarfism and kyphoscoliosis. Radiographs showed the marked platyspondyly and vertebral irregularity characteristic of brachyolmia. In the mother, the femoral necks were very short with a varus deformity; in the 6-year-old son, the femoral necks were likewise short and their metaphyseal regions were irregular, with areas of patchy lucency and sclerosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8209891" 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="Rock, M. J., Prenen, J., Funari, V. A., Funari, T. L., Merriman, B., Nelson, S. F., Lachman, R. S., Wilcox, W. R., Reyno, S., Quadrelli, R., Vaglio, A., Owsianik, G., Janssens, A., Voets, T., Ikegawa, S., Nagai, T., Rimoin, D. L., Nilius, B., Cohn, D. H. <strong>Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.</strong> Nature Genet. 40: 999-1003, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18587396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18587396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18587396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18587396">Rock et al. (2008)</a> described type 3 brachyolmia as an autosomal dominant form with severe kyphoscoliosis and flattened, irregular cervical vertebrae. Paradoxically, although the limbs are mildly shortened in all 3 types of brachyolmia, they show only minimal epiphyseal and metaphyseal abnormalities on radiographs. <a href="#8" class="mim-tip-reference" title="Rock, M. J., Prenen, J., Funari, V. A., Funari, T. L., Merriman, B., Nelson, S. F., Lachman, R. S., Wilcox, W. R., Reyno, S., Quadrelli, R., Vaglio, A., Owsianik, G., Janssens, A., Voets, T., Ikegawa, S., Nagai, T., Rimoin, D. L., Nilius, B., Cohn, D. H. <strong>Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.</strong> Nature Genet. 40: 999-1003, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18587396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18587396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18587396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18587396">Rock et al. (2008)</a> characterized a large family (R99-102) with autosomal dominant brachyolmia. The clinical phenotype was characterized by moderately short-trunk short stature, mildly short limbs, mild brachydactyly, and no extraskeletal clinical findings. The most characteristic radiographic features were scoliosis with platyspondyly and overfaced pedicles, which were most prominent in the lumbar vertebrae. There were mild irregularities at the metaphyses of the proximal femora, and the hands showed delayed epiphyseal and carpal ossification. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18587396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Grigelioniene, G., Geiberger, S., Horemuzova, E., Mostrom, E., Jantti, N., Neumeyer, L., Astrom, E., Nordenskjold, M., Nordgren, A., Makitie, O. <strong>Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.</strong> Am. J. Med. Genet. 164A: 1635-1641, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24677493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24677493</a>] [<a href="https://doi.org/10.1002/ajmg.a.36502" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24677493">Grigelioniene et al. (2014)</a> reported a large Swedish family with brachyolmia in 11 individuals over 4 generations. The proband was a 2-year-old boy who had a normal growth curve but features suggestive of a skeletal dysplasia on radiography: x-rays showed alterations in the spine typical for brachyolmia, with flat and oval-shaped vertebrae, and he also had mild metaphyseal changes, most noticeably at the proximal femur. The authors stated that the phenotype of other affected family members was not easily recognizable, although review of x-rays showed more pronounced vertebral changes with advancing age, and vertebrae were flat, with irregular endplates and narrow disc spaces. Short pedicles and narrow canal spaces were observed, indicating likely spinal stenosis. Short stature was variable in this family, usually relatively mild but progressive with age. Affected adults reported generalized spine stiffness, with limitation of flexion in the thoracic and lumbar spine, as well as skeletal pain in the extremities and hips that began in mid- to late childhood. Paresthesias were present in upper and lower extremities, involving burning and prickling sensations that varied in intensity and location. The oldest affected family member was wheelchair-bound at age 83, due to pain, kyphoscoliosis, and hip arthrosis; 2 other adults had to change occupations due to musculoskeletal pain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24677493" 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 BCYM3 in 2 families reported by <a href="#8" class="mim-tip-reference" title="Rock, M. J., Prenen, J., Funari, V. A., Funari, T. L., Merriman, B., Nelson, S. F., Lachman, R. S., Wilcox, W. R., Reyno, S., Quadrelli, R., Vaglio, A., Owsianik, G., Janssens, A., Voets, T., Ikegawa, S., Nagai, T., Rimoin, D. L., Nilius, B., Cohn, D. H. <strong>Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.</strong> Nature Genet. 40: 999-1003, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18587396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18587396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18587396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18587396">Rock et al. (2008)</a> (R99-102 and R99-457) was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18587396" 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>Using a 2-stage genome scan in a large family (R99-102) with autosomal dominant brachyolmia, <a href="#8" class="mim-tip-reference" title="Rock, M. J., Prenen, J., Funari, V. A., Funari, T. L., Merriman, B., Nelson, S. F., Lachman, R. S., Wilcox, W. R., Reyno, S., Quadrelli, R., Vaglio, A., Owsianik, G., Janssens, A., Voets, T., Ikegawa, S., Nagai, T., Rimoin, D. L., Nilius, B., Cohn, D. H. <strong>Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.</strong> Nature Genet. 40: 999-1003, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18587396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18587396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18587396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18587396">Rock et al. (2008)</a> mapped the phenotype to chromosome 12q24.1-q24.2, with a maximum lod score of 3.04 at a recombination fraction of zero for the marker D12S79. Recombination mapping limited the interval to 11.1 Mb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18587396" 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>To narrow the search for the genes in the critical 11.1-Mb interval for a form of brachyolmia, <a href="#8" class="mim-tip-reference" title="Rock, M. J., Prenen, J., Funari, V. A., Funari, T. L., Merriman, B., Nelson, S. F., Lachman, R. S., Wilcox, W. R., Reyno, S., Quadrelli, R., Vaglio, A., Owsianik, G., Janssens, A., Voets, T., Ikegawa, S., Nagai, T., Rimoin, D. L., Nilius, B., Cohn, D. H. <strong>Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.</strong> Nature Genet. 40: 999-1003, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18587396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18587396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18587396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18587396">Rock et al. (2008)</a> searched for genes with higher expression in cartilage and identified TRPV4 (<a href="/entry/605427">605427</a>) as having about 10-fold higher cartilage selectivity than the average of all other genes in the interval. In the family (R99-102) in which the critical interval for autosomal dominant brachyolmia was mapped, and in another family (R99-457) with a similar phenotype, <a href="#8" class="mim-tip-reference" title="Rock, M. J., Prenen, J., Funari, V. A., Funari, T. L., Merriman, B., Nelson, S. F., Lachman, R. S., Wilcox, W. R., Reyno, S., Quadrelli, R., Vaglio, A., Owsianik, G., Janssens, A., Voets, T., Ikegawa, S., Nagai, T., Rimoin, D. L., Nilius, B., Cohn, D. H. <strong>Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.</strong> Nature Genet. 40: 999-1003, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18587396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18587396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18587396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18587396">Rock et al. (2008)</a> identified heterozygosity for missense mutations within exon 12 of the TRPV4 gene: R616Q (<a href="/entry/605427#0001">605427.0001</a>) and V620I (<a href="/entry/605427#0002">605427.0002</a>), respectively. No mutations in the TRPV4 gene were found in 2 additional families with autosomal dominant brachyolmia, suggesting that autosomal dominant brachyolmia may be genetically heterogeneous. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18587396" 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 large Swedish family in which 11 individuals over 4 generations had brachyolmia, <a href="#4" class="mim-tip-reference" title="Grigelioniene, G., Geiberger, S., Horemuzova, E., Mostrom, E., Jantti, N., Neumeyer, L., Astrom, E., Nordenskjold, M., Nordgren, A., Makitie, O. <strong>Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.</strong> Am. J. Med. Genet. 164A: 1635-1641, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24677493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24677493</a>] [<a href="https://doi.org/10.1002/ajmg.a.36502" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24677493">Grigelioniene et al. (2014)</a> identified heterozygosity for the previously reported R616Q substitution in the TRPV4 gene, which segregated fully with disease. Affected adults in the Swedish family reported paresthesias and significant musculoskeletal pain, symptoms that were not present in members of the previously described family (R99-102; <a href="#8" class="mim-tip-reference" title="Rock, M. J., Prenen, J., Funari, V. A., Funari, T. L., Merriman, B., Nelson, S. F., Lachman, R. S., Wilcox, W. R., Reyno, S., Quadrelli, R., Vaglio, A., Owsianik, G., Janssens, A., Voets, T., Ikegawa, S., Nagai, T., Rimoin, D. L., Nilius, B., Cohn, D. H. <strong>Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.</strong> Nature Genet. 40: 999-1003, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18587396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18587396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18587396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18587396">Rock et al., 2008</a>) with the same mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24677493+18587396" 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="#2" class="mim-tip-reference" title="Brown, D. O. <strong>Morquio's disease.</strong> Med. J. Aust. 1: 598-600, 1933."None>Brown (1933)</a> described the condition in a mother and 2 daughters as Morquio disease (see <a href="/entry/253000">253000</a>).</p>
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Aust. New Zeal. J. Surg. 3: 78-88, 1933.
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Am. J. Med. Genet. 49: 308-312, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8209891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8209891</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8209891" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320490313" target="_blank">Full Text</a>]
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<a id="Grigelioniene2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Grigelioniene, G., Geiberger, S., Horemuzova, E., Mostrom, E., Jantti, N., Neumeyer, L., Astrom, E., Nordenskjold, M., Nordgren, A., Makitie, O.
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<strong>Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.</strong>
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Am. J. Med. Genet. 164A: 1635-1641, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24677493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24677493</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24677493" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.36502" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Kozlowski1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kozlowski, K., Beemer, F. A., Bens, G., Dijkstra, P. F., Iannaccone, G., Emons, D., Lopez-Ruiz, P., Masel, J., van Nieuwenhuizen, O., Rodriguez-Barrionuevo, C.
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<strong>Spondylo-metaphyseal dysplasia: report of 7 cases and essay of classification. In: Papadatos, C. J.; Bartsocas, C. S. (eds.): Skeletal Dysplasias.</strong>
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New York: Alan R. Liss (pub.) 1982. Pp. 89-101.
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Lenz1964" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lenz, W.
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<strong>Anomalien des Wachstums und der Koerperform. In: Becker, P. E.: Ein kurzes Handbuch in fuenf Baenden. Vol. 2.</strong>
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Stuttgart: Georg Thieme Verlag (pub.) 1964. Pp. 88-89. Note: Fig. 30.
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<a id="7" class="mim-anchor"></a>
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<a id="Lomas1959" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lomas, J. J. P., Boyle, A. C.
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<strong>Osteo-chondrodystrophy (Morquio's disease) in three generations.</strong>
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Lancet 274: 430-432, 1959. Note: Originally Volume II.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14418038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14418038</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14418038" 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/s0140-6736(59)90418-0" target="_blank">Full Text</a>]
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<a id="Rock2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rock, M. J., Prenen, J., Funari, V. A., Funari, T. L., Merriman, B., Nelson, S. F., Lachman, R. S., Wilcox, W. R., Reyno, S., Quadrelli, R., Vaglio, A., Owsianik, G., Janssens, A., Voets, T., Ikegawa, S., Nagai, T., Rimoin, D. L., Nilius, B., Cohn, D. H.
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<strong>Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.</strong>
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Nature Genet. 40: 999-1003, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18587396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18587396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18587396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18587396" 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/ng.166" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Shohat1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shohat, M., Lachman, R., Gruber, H. E., Rimoin, D. L.
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<strong>Brachyolmia: radiographic and genetic evidence of heterogeneity.</strong>
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Am. J. Med. Genet. 33: 209-219, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2669482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2669482</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2669482" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320330214" target="_blank">Full Text</a>]
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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 : 09/07/2021
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Ada Hamosh - updated : 10/24/2008
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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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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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<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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alopez : 09/07/2021
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 02/06/2020<br>carol : 10/13/2016<br>carol : 03/12/2015<br>carol : 12/22/2010<br>wwang : 6/11/2009<br>carol : 5/29/2009<br>terry : 1/8/2009<br>alopez : 11/18/2008<br>alopez : 11/14/2008<br>terry : 10/24/2008<br>carol : 6/1/1994<br>mimadm : 4/9/1994<br>pfoster : 3/25/1994<br>carol : 10/26/1993<br>supermim : 3/16/1992<br>carol : 8/23/1990
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</span>
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<span class="mim-font">
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<strong>#</strong> 113500
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</span>
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<div>
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<h3>
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BRACHYOLMIA TYPE 3; BCYM3
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</div>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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BRACHYOLMIA, AUTOSOMAL DOMINANT<br />
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BRACHYRACHIA
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<strong>SNOMEDCT:</strong> 717264003;
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<strong>ORPHA:</strong> 93304;
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<strong>DO:</strong> 0050690;
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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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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<tbody>
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<td>
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<span class="mim-font">
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12q24.11
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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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Brachyolmia type 3
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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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113500
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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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</span>
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</td>
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<td>
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<span class="mim-font">
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TRPV4
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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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605427
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</table>
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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 brachyolmia type 3 (BCYM3) is caused by heterozygous mutation in the TRPV4 gene (605427) on chromosome 12q24.</p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Type 3 brachyolmia (BCYM3) is an autosomal dominant skeletal dysplasia affecting the spine characterized by severe kyphoscoliosis and flattened, irregular cervical vertebrae (summary by Rock et al., 2008). </p><p>For a discussion of heterogeneity of brachyolmia, see 271530.</p>
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</span>
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<div>
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</div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</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>Lenz (1964) observed father and son with a very short spine and deformity of the anterior chest rather like that in Morquio disease. Except for marked changes in the femoral epiphyses, the extremities were normal. The vertebral bodies were small, irregular, and radiolucent. Perhaps the family of Lomas and Boyle (1959) in which 3 generations were affected had the same condition. See also the dominant type of spondyloepiphyseal dysplasia tarda (184100). </p><p>Kozlowski et al. (1982) stated that pure brachyolmia does not exist and that metaphyseal involvement may be minimal and scattered but always is present along with involvement of the spine in cases labeled brachyolmia. Shohat et al. (1989), however, described a mother and son with severe spinal changes with no metaphyseal or epiphyseal changes in the long bones. These patients showed the most severe scoliosis of the patients they studied, and demonstrated marked cervical vertebral flattening and irregularity. </p><p>Gardner and Beighton (1994) investigated the cases of a mother and son of South African Xhosa stock who presented with short-trunk dwarfism and kyphoscoliosis. Radiographs showed the marked platyspondyly and vertebral irregularity characteristic of brachyolmia. In the mother, the femoral necks were very short with a varus deformity; in the 6-year-old son, the femoral necks were likewise short and their metaphyseal regions were irregular, with areas of patchy lucency and sclerosis. </p><p>Rock et al. (2008) described type 3 brachyolmia as an autosomal dominant form with severe kyphoscoliosis and flattened, irregular cervical vertebrae. Paradoxically, although the limbs are mildly shortened in all 3 types of brachyolmia, they show only minimal epiphyseal and metaphyseal abnormalities on radiographs. Rock et al. (2008) characterized a large family (R99-102) with autosomal dominant brachyolmia. The clinical phenotype was characterized by moderately short-trunk short stature, mildly short limbs, mild brachydactyly, and no extraskeletal clinical findings. The most characteristic radiographic features were scoliosis with platyspondyly and overfaced pedicles, which were most prominent in the lumbar vertebrae. There were mild irregularities at the metaphyses of the proximal femora, and the hands showed delayed epiphyseal and carpal ossification. </p><p>Grigelioniene et al. (2014) reported a large Swedish family with brachyolmia in 11 individuals over 4 generations. The proband was a 2-year-old boy who had a normal growth curve but features suggestive of a skeletal dysplasia on radiography: x-rays showed alterations in the spine typical for brachyolmia, with flat and oval-shaped vertebrae, and he also had mild metaphyseal changes, most noticeably at the proximal femur. The authors stated that the phenotype of other affected family members was not easily recognizable, although review of x-rays showed more pronounced vertebral changes with advancing age, and vertebrae were flat, with irregular endplates and narrow disc spaces. Short pedicles and narrow canal spaces were observed, indicating likely spinal stenosis. Short stature was variable in this family, usually relatively mild but progressive with age. Affected adults reported generalized spine stiffness, with limitation of flexion in the thoracic and lumbar spine, as well as skeletal pain in the extremities and hips that began in mid- to late childhood. Paresthesias were present in upper and lower extremities, involving burning and prickling sensations that varied in intensity and location. The oldest affected family member was wheelchair-bound at age 83, due to pain, kyphoscoliosis, and hip arthrosis; 2 other adults had to change occupations due to musculoskeletal pain. </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 BCYM3 in 2 families reported by Rock et al. (2008) (R99-102 and R99-457) 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>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using a 2-stage genome scan in a large family (R99-102) with autosomal dominant brachyolmia, Rock et al. (2008) mapped the phenotype to chromosome 12q24.1-q24.2, with a maximum lod score of 3.04 at a recombination fraction of zero for the marker D12S79. Recombination mapping limited the interval to 11.1 Mb. </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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<strong>Molecular Genetics</strong>
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<p>To narrow the search for the genes in the critical 11.1-Mb interval for a form of brachyolmia, Rock et al. (2008) searched for genes with higher expression in cartilage and identified TRPV4 (605427) as having about 10-fold higher cartilage selectivity than the average of all other genes in the interval. In the family (R99-102) in which the critical interval for autosomal dominant brachyolmia was mapped, and in another family (R99-457) with a similar phenotype, Rock et al. (2008) identified heterozygosity for missense mutations within exon 12 of the TRPV4 gene: R616Q (605427.0001) and V620I (605427.0002), respectively. No mutations in the TRPV4 gene were found in 2 additional families with autosomal dominant brachyolmia, suggesting that autosomal dominant brachyolmia may be genetically heterogeneous. </p><p>In a large Swedish family in which 11 individuals over 4 generations had brachyolmia, Grigelioniene et al. (2014) identified heterozygosity for the previously reported R616Q substitution in the TRPV4 gene, which segregated fully with disease. Affected adults in the Swedish family reported paresthesias and significant musculoskeletal pain, symptoms that were not present in members of the previously described family (R99-102; Rock et al., 2008) with the same mutation. </p>
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<strong>History</strong>
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<span class="mim-text-font">
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<p>Brown (1933) described the condition in a mother and 2 daughters as Morquio disease (see 253000).</p>
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<span class="mim-font">
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<strong>See Also:</strong>
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<span class="mim-text-font">
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Brown and MacDonald (1933)
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Brown, D. O., MacDonald, C.
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<strong>Three cases of familial osseous dystrophy.</strong>
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Aust. New Zeal. J. Surg. 3: 78-88, 1933.
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Brown, D. O.
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<strong>Morquio's disease.</strong>
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Med. J. Aust. 1: 598-600, 1933.
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Gardner, J., Beighton, P.
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<strong>Brachyolmia: an autosomal dominant form.</strong>
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Am. J. Med. Genet. 49: 308-312, 1994.
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[PubMed: 8209891]
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[Full Text: https://doi.org/10.1002/ajmg.1320490313]
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Grigelioniene, G., Geiberger, S., Horemuzova, E., Mostrom, E., Jantti, N., Neumeyer, L., Astrom, E., Nordenskjold, M., Nordgren, A., Makitie, O.
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<strong>Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.</strong>
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Am. J. Med. Genet. 164A: 1635-1641, 2014.
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[PubMed: 24677493]
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[Full Text: https://doi.org/10.1002/ajmg.a.36502]
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Kozlowski, K., Beemer, F. A., Bens, G., Dijkstra, P. F., Iannaccone, G., Emons, D., Lopez-Ruiz, P., Masel, J., van Nieuwenhuizen, O., Rodriguez-Barrionuevo, C.
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<strong>Spondylo-metaphyseal dysplasia: report of 7 cases and essay of classification. In: Papadatos, C. J.; Bartsocas, C. S. (eds.): Skeletal Dysplasias.</strong>
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New York: Alan R. Liss (pub.) 1982. Pp. 89-101.
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<li>
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<p class="mim-text-font">
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Lenz, W.
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<strong>Anomalien des Wachstums und der Koerperform. In: Becker, P. E.: Ein kurzes Handbuch in fuenf Baenden. Vol. 2.</strong>
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Stuttgart: Georg Thieme Verlag (pub.) 1964. Pp. 88-89. Note: Fig. 30.
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<li>
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<p class="mim-text-font">
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Lomas, J. J. P., Boyle, A. C.
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<strong>Osteo-chondrodystrophy (Morquio's disease) in three generations.</strong>
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Lancet 274: 430-432, 1959. Note: Originally Volume II.
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[PubMed: 14418038]
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[Full Text: https://doi.org/10.1016/s0140-6736(59)90418-0]
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Rock, M. J., Prenen, J., Funari, V. A., Funari, T. L., Merriman, B., Nelson, S. F., Lachman, R. S., Wilcox, W. R., Reyno, S., Quadrelli, R., Vaglio, A., Owsianik, G., Janssens, A., Voets, T., Ikegawa, S., Nagai, T., Rimoin, D. L., Nilius, B., Cohn, D. H.
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<strong>Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.</strong>
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Nature Genet. 40: 999-1003, 2008.
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[PubMed: 18587396]
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[Full Text: https://doi.org/10.1038/ng.166]
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Shohat, M., Lachman, R., Gruber, H. E., Rimoin, D. L.
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<strong>Brachyolmia: radiographic and genetic evidence of heterogeneity.</strong>
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Am. J. Med. Genet. 33: 209-219, 1989.
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[PubMed: 2669482]
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[Full Text: https://doi.org/10.1002/ajmg.1320330214]
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Marla J. F. O'Neill - updated : 09/07/2021<br>Ada Hamosh - updated : 10/24/2008
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