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Entry
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- #184095 - SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
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- OMIM
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<p>
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<span class="h4">#184095</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/184095"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX 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=20061&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/6822" 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=184095[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=263482" 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/1a5489f6-ebf8-4509-8922-01f75c13479f/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div style="display: table-row">
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111553" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/184095" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/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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<div><a href="https://wormbase.org/resources/disease/DOID:0111553" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span 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> 719204007<br />
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<strong>ORPHA:</strong> 263482<br />
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<strong>DO:</strong> 0111553<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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184095
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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SED, MAROTEAUX TYPE<br />
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PSEUDO-MORQUIO SYNDROME, TYPE 2
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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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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
|
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<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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SED, Maroteaux type
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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/184095"> 184095 </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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<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 class="btn-group ">
|
|
<a href="/clinicalSynopsis/184095" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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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/184095" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/184095" 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>
|
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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">
|
|
<em> Height </em>
|
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</span>
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Normal-low normal birth length <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5542267&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5542267</a>]</span><br /> -
|
|
Progressive short stature <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5542268&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5542268</a>]</span><br /> -
|
|
Disproportionate short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/772086000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">772086000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0878659&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0878659</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003498" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003498</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003498" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003498</a>]</span><br /> -
|
|
Short-trunk dwarfism <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5542269&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5542269</a>]</span><br />
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|
|
</span>
|
|
</div>
|
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</div>
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</div>
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|
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</div>
|
|
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Normal facies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837086&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837086</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
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|
|
</div>
|
|
|
|
</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Spondyloepiphyseal dysplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278713008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278713008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q77.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q77.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038015&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038015</a>, <a href="https://bioportal.bioontology.org/search?q=C2745959&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2745959</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002655" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002655</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002655" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002655</a>]</span><br /> -
|
|
Delayed bone age <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/123983008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">123983008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0541764&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0541764</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002750</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002750</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Platyspondyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844704&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844704</a> 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> <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 /> -
|
|
Rectangular vertebral bodies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5542270&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5542270</a>]</span><br /> -
|
|
Irregular vertebral endplates <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842153&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842153</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003301" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003301</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003301" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003301</a>]</span><br /> -
|
|
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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pelvis </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Shortened iliac greater sciatic notches <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5542271&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5542271</a>]</span><br /> -
|
|
Small, square iliac wings <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5543699&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5543699</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
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- Micromelia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74370006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74370006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025995&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025995</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002983" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002983</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002983" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002983</a>]</span><br /> -
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Flattened femoral heads <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860601&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860601</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008812</a>]</span><br /> -
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Short femoral necks <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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Epiphyseal dysplasia (long bones) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5542273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5542273</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254080004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254080004</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002656" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002656</a>]</span><br /> -
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Degenerative joint disease (shoulder, hip and knee) Genu varum/valgum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5542274&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5542274</a>]</span><br />
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Delayed carpal ossification (infancy-childhood) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5542275&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5542275</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001216" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001216</a>]</span><br /> -
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Dysplastic carpal bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276747&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276747</a>]</span><br /> -
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Short metacarpals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837084&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837084</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010049</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010049</a>]</span><br /> -
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Delayed phalangeal ossification (infancy-childhood) Short phalanges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5542276&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5542276</a>]</span><br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the transient receptor potential cation channel, subfamily V, member 4 gene (TRPV4, <a href="/entry/605427#0007">605427.0007</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that the Maroteaux type of spondyloepiphyseal dysplasia is caused by heterozygous mutation in the TRPV4 gene (<a href="/entry/605427">605427</a>) on chromosome 12q24.</p>
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<strong>Clinical Features</strong>
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<p><a href="#1" class="mim-tip-reference" title="Doman, A. N., Maroteaux, P., Lyne, E. D. <strong>Spondyloepiphyseal dysplasia of Maroteaux.</strong> J. Bone Joint Surg. Am. 72: 1364-1369, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2229114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2229114</a>]" pmid="2229114">Doman et al. (1990)</a> used the designation spondyloepiphyseal dysplasia (SED) of Maroteaux for a form of spondyloepiphyseal dysplasia with manifestations limited to the musculoskeletal system and with other features distinguishing it from Morquio syndrome of any type (<a href="/entry/253000">253000</a>, <a href="/entry/253010">253010</a>, <a href="/entry/252300">252300</a>), X-linked SED tarda (<a href="/entry/313400">313400</a>), brachyolmia (<a href="/entry/113500">113500</a>, <a href="/entry/271530">271530</a>, <a href="/entry/271630">271630</a>), and spondylometaphyseal dysplasia of Kozlowski (<a href="/entry/184252">184252</a>). <a href="#1" class="mim-tip-reference" title="Doman, A. N., Maroteaux, P., Lyne, E. D. <strong>Spondyloepiphyseal dysplasia of Maroteaux.</strong> J. Bone Joint Surg. Am. 72: 1364-1369, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2229114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2229114</a>]" pmid="2229114">Doman et al. (1990)</a> reported affected father and son, aged 51 and 20 years, respectively, and affected mother and son. The patients were considered normal at birth. Platyspondyly is a feature, but there is no tongue-like deformity of the vertebral bodies in this disorder. Intelligence is normal and there is no clouding of the cornea or mucopolysacchariduria. Both hands and feet are short and stubby. The pelvic inlet is described as having a champagne-glass configuration, unlike the wine-glass-like configuration of the pelvic inlet in patients who have Morquio syndrome. Odontoid hypoplasia was not found. Genu valgum was present. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2229114" 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="Nishimura, G., Kizu, R., Kijima, Y., Sakai, K., Kawaguchi, Y., Kimura, T., Matsushita, I., Shirahama, S., Ikeda, T., Ikegawa, S., Hasegawa, T. <strong>Spondyloepiphyseal dysplasia Maroteaux type: report of three patients from two families and exclusion of type II collagen defects.</strong> Am. J. Med. Genet. 120A: 498-502, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12884428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12884428</a>] [<a href="https://doi.org/10.1002/ajmg.a.20095" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12884428">Nishimura et al. (2003)</a> reported a Japanese mother and son and an unrelated 65-year-old man with spondyloepiphyseal dysplasia of Maroteaux. The adults had extremely short stature, brachydactyly, platyspondyly, rectangular vertebral bodies with irregular endplates, epiphyseal hypoplasia of the large joints, and iliac hypoplasia. The man had myeloradiculopathy necessitating neurosurgery. The affected child had short stature and brachydactyly with characteristic spine radiographic findings. None of the patients had mutations in the COL2A1 gene (<a href="/entry/120140">120140</a>), which excluded a diagnosis of spondyloperipheral dysplasia (<a href="/entry/271700">271700</a>). <a href="#4" class="mim-tip-reference" title="Nishimura, G., Kizu, R., Kijima, Y., Sakai, K., Kawaguchi, Y., Kimura, T., Matsushita, I., Shirahama, S., Ikeda, T., Ikegawa, S., Hasegawa, T. <strong>Spondyloepiphyseal dysplasia Maroteaux type: report of three patients from two families and exclusion of type II collagen defects.</strong> Am. J. Med. Genet. 120A: 498-502, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12884428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12884428</a>] [<a href="https://doi.org/10.1002/ajmg.a.20095" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12884428">Nishimura et al. (2003)</a> suggested that platyspondyly and brachydactyly are much more severe in SED of Maroteaux than in spondyloperipheral dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12884428" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Megarbane, A., Maroteaux, P., Caillaud, C., Le Merrer, M. <strong>Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature.</strong> Am. J. Med. Genet. 125A: 61-66, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14755468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14755468</a>] [<a href="https://doi.org/10.1002/ajmg.a.20442" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14755468">Megarbane et al. (2004)</a> reported a patient with characteristic features of spondyloepiphyseal dysplasia of Maroteaux. The 11-year-old girl, who was of normal intelligence, was the only child of nonconsanguineous parents, and appeared normal at birth. Clinical features included short stature, head positioned in hyperextension, mild arched palate, prominent joints, limited elbow movements, hyperextensible wrists and fingers, brachydactyly, broad thorax, pectus carinatum, short trunk, genu valgum, and flat feet. A radiographic skeletal survey revealed generalized osteoporosis, platyspondyly, thoracic kyphoscoliosis, small and square iliac wings, short femoral necks, dysplastic epiphyses, flared metaphyses, and brachydactyly with various carpal, metacarpal, and finger malformations. <a href="#2" class="mim-tip-reference" title="Megarbane, A., Maroteaux, P., Caillaud, C., Le Merrer, M. <strong>Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature.</strong> Am. J. Med. Genet. 125A: 61-66, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14755468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14755468</a>] [<a href="https://doi.org/10.1002/ajmg.a.20442" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14755468">Megarbane et al. (2004)</a> reviewed features of the 6 previously reported cases and noted that their patient's cervical spine instability and distal joint laxity were unusual, indicating clinical or genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14755468" 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="#3" class="mim-tip-reference" title="Nishimura, G., Dai, J., Lausch, E., Unger, S., Megarbane, A., Kitoh, H., Kim, O. H., Cho, T.-J., Bedeschi, F., Benedicenti, F., Mendoza-Londono, R., Silengo, M., Schmidt-Rimpler, M., Spranger, J., Zabel, B., Ikegawa, S., Superti-Furga, A. <strong>Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), are parastremmatic dysplasia are caused by TRPV4 mutations.</strong> Am. J. Med. Genet. 152A: 1443-1449, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20503319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20503319</a>] [<a href="https://doi.org/10.1002/ajmg.a.33414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20503319">Nishimura et al. (2010)</a> analyzed the candidate gene TRPV4 (<a href="/entry/605427">605427</a>) in 6 patients with the Maroteaux type of SED, including 3 previously reported patients (<a href="#4" class="mim-tip-reference" title="Nishimura, G., Kizu, R., Kijima, Y., Sakai, K., Kawaguchi, Y., Kimura, T., Matsushita, I., Shirahama, S., Ikeda, T., Ikegawa, S., Hasegawa, T. <strong>Spondyloepiphyseal dysplasia Maroteaux type: report of three patients from two families and exclusion of type II collagen defects.</strong> Am. J. Med. Genet. 120A: 498-502, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12884428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12884428</a>] [<a href="https://doi.org/10.1002/ajmg.a.20095" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12884428">Nishimura et al., 2003</a>; <a href="#2" class="mim-tip-reference" title="Megarbane, A., Maroteaux, P., Caillaud, C., Le Merrer, M. <strong>Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature.</strong> Am. J. Med. Genet. 125A: 61-66, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14755468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14755468</a>] [<a href="https://doi.org/10.1002/ajmg.a.20442" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14755468">Megarbane et al., 2004</a>), and identified heterozygous mutations in all of them (see, e.g., <a href="/entry/605427#0007">605427.0007</a> and <a href="/entry/605427#0018">605427.0018</a>-<a href="/entry/605427#0021">605427.0021</a>). <a href="#3" class="mim-tip-reference" title="Nishimura, G., Dai, J., Lausch, E., Unger, S., Megarbane, A., Kitoh, H., Kim, O. H., Cho, T.-J., Bedeschi, F., Benedicenti, F., Mendoza-Londono, R., Silengo, M., Schmidt-Rimpler, M., Spranger, J., Zabel, B., Ikegawa, S., Superti-Furga, A. <strong>Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), are parastremmatic dysplasia are caused by TRPV4 mutations.</strong> Am. J. Med. Genet. 152A: 1443-1449, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20503319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20503319</a>] [<a href="https://doi.org/10.1002/ajmg.a.33414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20503319">Nishimura et al. (2010)</a> noted that SED Maroteaux type is thus allelic to several other skeletal dysplasias also caused by heterozygous mutation in TRPV4, including brachyolmia type 3 (<a href="/entry/113500">113500</a>), spondylometaphyseal dysplasia Kozlowski type (SMDK; <a href="/entry/184252">184252</a>), and metatropic dysplasia (MD; <a href="/entry/156530">156530</a>), and that the 4 skeletal disorders share many radiographic features, particularly platyspondyly with broad and elongated vertebral bodies that overshadow the vertebral pedicles in anteroposterior radiographs. However, brachydactyly is usually absent or very mild in SMDK, and kyphosis and/or scoliosis develops in childhood in MD but is not seen in patients with the Maroteaux type of SED. <a href="#3" class="mim-tip-reference" title="Nishimura, G., Dai, J., Lausch, E., Unger, S., Megarbane, A., Kitoh, H., Kim, O. H., Cho, T.-J., Bedeschi, F., Benedicenti, F., Mendoza-Londono, R., Silengo, M., Schmidt-Rimpler, M., Spranger, J., Zabel, B., Ikegawa, S., Superti-Furga, A. <strong>Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), are parastremmatic dysplasia are caused by TRPV4 mutations.</strong> Am. J. Med. Genet. 152A: 1443-1449, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20503319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20503319</a>] [<a href="https://doi.org/10.1002/ajmg.a.33414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20503319">Nishimura et al. (2010)</a> noted that genotype/phenotype correlations did not appear to be robust, and suggested that in the presence of a TRPV4 mutation, modulation of the clinical phenotype by other genes and/or by nongenetic factors might occur. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12884428+20503319+14755468" 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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Doman, A. N., Maroteaux, P., Lyne, E. D.
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<strong>Spondyloepiphyseal dysplasia of Maroteaux.</strong>
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J. Bone Joint Surg. Am. 72: 1364-1369, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2229114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2229114</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2229114" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Megarbane, A., Maroteaux, P., Caillaud, C., Le Merrer, M.
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<strong>Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature.</strong>
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Am. J. Med. Genet. 125A: 61-66, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14755468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14755468</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14755468" 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.20442" target="_blank">Full Text</a>]
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Nishimura, G., Dai, J., Lausch, E., Unger, S., Megarbane, A., Kitoh, H., Kim, O. H., Cho, T.-J., Bedeschi, F., Benedicenti, F., Mendoza-Londono, R., Silengo, M., Schmidt-Rimpler, M., Spranger, J., Zabel, B., Ikegawa, S., Superti-Furga, A.
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<strong>Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), are parastremmatic dysplasia are caused by TRPV4 mutations.</strong>
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Am. J. Med. Genet. 152A: 1443-1449, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20503319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20503319</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20503319" 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.33414" target="_blank">Full Text</a>]
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Nishimura, G., Kizu, R., Kijima, Y., Sakai, K., Kawaguchi, Y., Kimura, T., Matsushita, I., Shirahama, S., Ikeda, T., Ikegawa, S., Hasegawa, T.
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<strong>Spondyloepiphyseal dysplasia Maroteaux type: report of three patients from two families and exclusion of type II collagen defects.</strong>
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Am. J. Med. Genet. 120A: 498-502, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12884428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12884428</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12884428" 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.20095" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 10/7/2005<br>Marla J. F. O'Neill - updated : 5/18/2004
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terry : 01/13/2011<br>carol : 12/22/2010<br>alopez : 11/17/2008<br>alopez : 11/14/2008<br>ckniffin : 10/10/2005<br>carol : 10/10/2005<br>ckniffin : 10/7/2005<br>carol : 5/19/2004<br>terry : 5/18/2004<br>mimadm : 5/10/1995<br>carol : 4/27/1994<br>carol : 2/1/1993
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SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
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<strong>SNOMEDCT:</strong> 719204007;
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<strong>ORPHA:</strong> 263482;
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SED, Maroteaux type
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TRPV4
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605427
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<p>A number sign (#) is used with this entry because of evidence that the Maroteaux type of spondyloepiphyseal dysplasia is caused by heterozygous mutation in the TRPV4 gene (605427) on chromosome 12q24.</p>
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<p>Doman et al. (1990) used the designation spondyloepiphyseal dysplasia (SED) of Maroteaux for a form of spondyloepiphyseal dysplasia with manifestations limited to the musculoskeletal system and with other features distinguishing it from Morquio syndrome of any type (253000, 253010, 252300), X-linked SED tarda (313400), brachyolmia (113500, 271530, 271630), and spondylometaphyseal dysplasia of Kozlowski (184252). Doman et al. (1990) reported affected father and son, aged 51 and 20 years, respectively, and affected mother and son. The patients were considered normal at birth. Platyspondyly is a feature, but there is no tongue-like deformity of the vertebral bodies in this disorder. Intelligence is normal and there is no clouding of the cornea or mucopolysacchariduria. Both hands and feet are short and stubby. The pelvic inlet is described as having a champagne-glass configuration, unlike the wine-glass-like configuration of the pelvic inlet in patients who have Morquio syndrome. Odontoid hypoplasia was not found. Genu valgum was present. </p><p>Nishimura et al. (2003) reported a Japanese mother and son and an unrelated 65-year-old man with spondyloepiphyseal dysplasia of Maroteaux. The adults had extremely short stature, brachydactyly, platyspondyly, rectangular vertebral bodies with irregular endplates, epiphyseal hypoplasia of the large joints, and iliac hypoplasia. The man had myeloradiculopathy necessitating neurosurgery. The affected child had short stature and brachydactyly with characteristic spine radiographic findings. None of the patients had mutations in the COL2A1 gene (120140), which excluded a diagnosis of spondyloperipheral dysplasia (271700). Nishimura et al. (2003) suggested that platyspondyly and brachydactyly are much more severe in SED of Maroteaux than in spondyloperipheral dysplasia. </p><p>Megarbane et al. (2004) reported a patient with characteristic features of spondyloepiphyseal dysplasia of Maroteaux. The 11-year-old girl, who was of normal intelligence, was the only child of nonconsanguineous parents, and appeared normal at birth. Clinical features included short stature, head positioned in hyperextension, mild arched palate, prominent joints, limited elbow movements, hyperextensible wrists and fingers, brachydactyly, broad thorax, pectus carinatum, short trunk, genu valgum, and flat feet. A radiographic skeletal survey revealed generalized osteoporosis, platyspondyly, thoracic kyphoscoliosis, small and square iliac wings, short femoral necks, dysplastic epiphyses, flared metaphyses, and brachydactyly with various carpal, metacarpal, and finger malformations. Megarbane et al. (2004) reviewed features of the 6 previously reported cases and noted that their patient's cervical spine instability and distal joint laxity were unusual, indicating clinical or genetic heterogeneity. </p>
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<strong>Molecular Genetics</strong>
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<p>Nishimura et al. (2010) analyzed the candidate gene TRPV4 (605427) in 6 patients with the Maroteaux type of SED, including 3 previously reported patients (Nishimura et al., 2003; Megarbane et al., 2004), and identified heterozygous mutations in all of them (see, e.g., 605427.0007 and 605427.0018-605427.0021). Nishimura et al. (2010) noted that SED Maroteaux type is thus allelic to several other skeletal dysplasias also caused by heterozygous mutation in TRPV4, including brachyolmia type 3 (113500), spondylometaphyseal dysplasia Kozlowski type (SMDK; 184252), and metatropic dysplasia (MD; 156530), and that the 4 skeletal disorders share many radiographic features, particularly platyspondyly with broad and elongated vertebral bodies that overshadow the vertebral pedicles in anteroposterior radiographs. However, brachydactyly is usually absent or very mild in SMDK, and kyphosis and/or scoliosis develops in childhood in MD but is not seen in patients with the Maroteaux type of SED. Nishimura et al. (2010) noted that genotype/phenotype correlations did not appear to be robust, and suggested that in the presence of a TRPV4 mutation, modulation of the clinical phenotype by other genes and/or by nongenetic factors might occur. </p>
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<strong>REFERENCES</strong>
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Doman, A. N., Maroteaux, P., Lyne, E. D.
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<strong>Spondyloepiphyseal dysplasia of Maroteaux.</strong>
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J. Bone Joint Surg. Am. 72: 1364-1369, 1990.
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[PubMed: 2229114]
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Megarbane, A., Maroteaux, P., Caillaud, C., Le Merrer, M.
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<strong>Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature.</strong>
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Am. J. Med. Genet. 125A: 61-66, 2004.
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[PubMed: 14755468]
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[Full Text: https://doi.org/10.1002/ajmg.a.20442]
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Nishimura, G., Dai, J., Lausch, E., Unger, S., Megarbane, A., Kitoh, H., Kim, O. H., Cho, T.-J., Bedeschi, F., Benedicenti, F., Mendoza-Londono, R., Silengo, M., Schmidt-Rimpler, M., Spranger, J., Zabel, B., Ikegawa, S., Superti-Furga, A.
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<strong>Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), are parastremmatic dysplasia are caused by TRPV4 mutations.</strong>
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Am. J. Med. Genet. 152A: 1443-1449, 2010.
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[PubMed: 20503319]
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[Full Text: https://doi.org/10.1002/ajmg.a.33414]
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Nishimura, G., Kizu, R., Kijima, Y., Sakai, K., Kawaguchi, Y., Kimura, T., Matsushita, I., Shirahama, S., Ikeda, T., Ikegawa, S., Hasegawa, T.
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<strong>Spondyloepiphyseal dysplasia Maroteaux type: report of three patients from two families and exclusion of type II collagen defects.</strong>
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Am. J. Med. Genet. 120A: 498-502, 2003.
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[PubMed: 12884428]
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[Full Text: https://doi.org/10.1002/ajmg.a.20095]
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Marla J. F. O'Neill - updated : 12/22/2010<br>Cassandra L. Kniffin - updated : 10/7/2005<br>Marla J. F. O'Neill - updated : 5/18/2004
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