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Entry
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- #208230 - PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA; PPRD
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- OMIM
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<p>
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<span class="h4">#208230</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/208230"><strong>Clinical Synopsis</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="#populationGenetics">Population Genetics</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="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA" 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=1423&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/NBK327267/" 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/6826" 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://medlineplus.gov/genetics/condition/progressive-pseudorheumatoid-dysplasia" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=208230[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=1159" 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/6b08d807-a7ed-4812-8cdf-87f0fa1e628d/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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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0090004" 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/208230" 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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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 254065005<br />
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<strong>ORPHA:</strong> 1159<br />
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<strong>DO:</strong> 0090004<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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208230
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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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PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA; PPRD
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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PPD<br />
|
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ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD; PPAC<br />
|
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PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD<br />
|
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SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY; SEDT-PA
|
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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">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</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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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/6/784?start=-3&limit=10&highlight=784">
|
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6q21
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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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Progressive pseudorheumatoid dysplasia
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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/208230"> 208230 </a>
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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CCN6
|
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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/603400"> 603400 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/208230" 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;">
|
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<li><a href="/graph/linear/208230" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/208230" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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|
<div>
|
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
|
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|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Joint stiffness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84445001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84445001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162298&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162298</a>, <a href="https://bioportal.bioontology.org/search?q=C4085642&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4085642</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001387" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001387</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001387" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001387</a>]</span><br /> -
|
|
Joint swelling <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271771009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271771009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152031&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152031</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001386" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001386</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001386" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001386</a>]</span><br /> -
|
|
Osteoarthritis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/225655006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">225655006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396275006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396275006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M15-M19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M15-M19</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M19.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M19.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M19.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M19.90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/715.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">715.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029408&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029408</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002758" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002758</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002758" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002758</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">
|
|
|
|
- Kyphoscoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405771009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405771009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405772002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405772002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405773007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405773007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0600033&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0600033</a>, <a href="https://bioportal.bioontology.org/search?q=C0575158&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575158</a>, <a href="https://bioportal.bioontology.org/search?q=C0345392&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345392</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002751</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0008453" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008453</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002751</a>]</span><br /> -
|
|
Decreased cervical spine mobility <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859692&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859692</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004637" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004637</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004637" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004637</a>]</span><br /> -
|
|
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 /> -
|
|
Anterior end-plate erosions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859693&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859693</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">
|
|
|
|
- Periarticular osteoporosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859694&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859694</a>]</span><br /> -
|
|
Joint space narrowing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859695&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859695</a>]</span><br /> -
|
|
Acetabular irregularity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859696&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859696</a>]</span><br /> -
|
|
Enlarged capital femoral epiphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859697</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003371" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003371</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003371" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003371</a>]</span><br /> -
|
|
Coxa vara <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12067001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12067001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74820003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74820003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1179328008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1179328008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q65.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q65.82</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.32</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/755.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.62</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239138&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239138</a>, <a href="https://bioportal.bioontology.org/search?q=C5551440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5551440</a>, <a href="https://bioportal.bioontology.org/search?q=C0158481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158481</a>, <a href="https://bioportal.bioontology.org/search?q=C0152431&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152431</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002812</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Large joint contractures <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551970&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551970</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004576" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004576</a>]</span><br /> -
|
|
Genu varum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299331007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299331007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64925008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64925008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.16" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.16</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.42</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0544755&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0544755</a>, <a href="https://bioportal.bioontology.org/search?q=C0158485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158485</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002970" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002970</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002970" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002970</a>]</span><br /> -
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Flattened, enlarged epiphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859699&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859699</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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- Enlarged metacarpophalangeal joints <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859700&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859700</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006163" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006163</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006163" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006163</a>]</span><br /> -
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Enlarged interphalangeal joints <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859701&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859701</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006247" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006247</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006247" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006247</a>]</span><br /> -
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Flexion deformities of fingers <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/203554005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">203554005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0596017&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0596017</a>]</span><br /> -
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Narrowed joint spaces <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859695&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859695</a>]</span><br /> -
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Wide metaphyses (metacarpals and phalanges) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859702&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859702</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003016" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003016</a>]</span><br /> -
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Flattened epiphyses (metacarpals and phalanges) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859703&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859703</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Feet </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Wide metaphyses (metatarsals and phalanges) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859704&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859704</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003016" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003016</a>]</span><br /> -
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Enlarged epiphyses (metatarsals and phalanges) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859705&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859705</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010580" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010580</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> MUSCLE, SOFT TISSUES </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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- Easily fatigued <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859691&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859691</a>]</span><br /> -
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Muscular weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26544005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26544005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151786&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151786</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001324</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001324</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </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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- Normal sedimentation rate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859706</a>]</span><br /> -
|
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Negative rheumatoid factor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165840002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165840002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427391&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427391</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> 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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- Waddling gait <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271706000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271706000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231712&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231712</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002515" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002515</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002515" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002515</a>]</span><br /> -
|
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Walking difficulties <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/719232003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">719232003</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/719.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0311394&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0311394</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002355</a>]</span><br /> -
|
|
Onset of disease 3-8 years<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 cellular communication network factor 6 gene (CCN6, <a href="/entry/603400#0001">603400.0001</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 progressive pseudorheumatoid dysplasia (PPRD) is caused by homozygous or compound heterozygous mutation in the WISP3 gene (CCN6; <a href="/entry/603400">603400</a>) on chromosome 6q21.</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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<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 id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Progressive pseudorheumatoid dysplasia (PPRD) is an autosomal recessive skeletal dysplasia with radiographic changes similar to those of spondyloepiphyseal dysplasia tarda, and clinical, but not radiographic, resemblance to rheumatoid arthritis. It is a progressive chondropathy affecting primarily the articular cartilage with characteristic skeletal abnormalities notably in the spine (summary by <a href="#2" class="mim-tip-reference" title="El-Shanti, H. E., Omari, H. Z., Qubain, H. I. <strong>Progressive pseudorheumatoid dysplasia: report of a family and review.</strong> J. Med. Genet. 34: 559-563, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9222963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9222963</a>] [<a href="https://doi.org/10.1136/jmg.34.7.559" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9222963">El-Shanti et al., 1997</a>). Signs and symptoms, typically consisting of stiffness and swelling of joints, motor weakness, and joint contractures, usually develop between 3 and 8 years of age (summary by <a href="#6" class="mim-tip-reference" title="Hurvitz, J. R., Suwairi, W. M., Van Hul, W., El-Shanti, H., Superti-Furga, A., Roudier, J., Holderbaum, D., Pauli, R. M., Herd, J. K., Van Hul, E., Rezai-Delui, H., Legius, E., Le Merrer, M., Al-Alami, J., Bahabri, S. A., Warman, M. L. <strong>Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.</strong> Nature Genet. 23: 94-98, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10471507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10471507</a>] [<a href="https://doi.org/10.1038/12699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10471507">Hurvitz et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10471507+9222963" 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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<div>
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<br />
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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="#13" class="mim-tip-reference" title="Spranger, J., Albert, C., Schilling, F., Bartsocas, C. <strong>Progressive pseudorheumatoid arthropathy of childhood (PPAC): a hereditary disorder simulating juvenile rheumatoid arthritis. (Letter)</strong> Am. J. Med. Genet. 14: 399-401, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6837637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6837637</a>] [<a href="https://doi.org/10.1002/ajmg.1320140224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6837637">Spranger et al. (1983)</a> described an arthropathy of childhood beginning at about age 3 years with progressive joint stiffness that first affects the hips. Morning stiffness and decreased mobility of the cervical spine suggest rheumatoid arthritis. Swelling of the finger joints is caused not by soft tissue involvement but by osseous distention of the ends of the phalanges. Normal sedimentation rate, negative rheumatoid factor tests, and histologically normal synovium exclude rheumatoid disease. Furthermore, radiologic changes indicate bone dysplasia: the vertebral bodies are flattened with anterior ossification defects; the acetabular portion of the pelvis is abnormal, and the ends of the proximal and middle phalanges are expanded. The articular space may be narrow, but destructive bone changes characteristic of rheumatoid arthritis are not present. The diagnosis of 'rheumatoid arthritis with Scheuermann disease' is often rendered. Adults with PPRD are somewhat short (140 to 150 cm). Lack of response to antirheumatic drugs is characteristic. Histologic studies (<a href="#12" class="mim-tip-reference" title="Spranger, J., Albert, C., Schilling, F., Bartsocas, C., Stoss, H. <strong>Progressive pseudorheumatoid arthritis of childhood (PPAC): a hereditary disorder simulating rheumatoid arthritis.</strong> Europ. J. Pediat. 140: 34-40, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6873109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6873109</a>] [<a href="https://doi.org/10.1007/BF00661902" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6873109">Spranger et al., 1983</a>) showed a peculiar nest-like clustering of chondrocytes in resting and growth cartilage, suggesting that this is a primary disorder of articular cartilage. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6837637+6873109" 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>According to <a href="#15" class="mim-tip-reference" title="Wynne-Davies, R., Hall, C., Ansell, B. M. <strong>Spondylo-epiphyseal dysplasia tarda with progressive arthropathy: a 'new' disorder of autosomal recessive inheritance.</strong> J. Bone Joint Surg. Br. 64: 442-445, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6807993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6807993</a>] [<a href="https://doi.org/10.1302/0301-620X.64B4.6807993" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6807993">Wynne-Davies et al. (1982)</a>, who referred to the condition as spondyloepiphyseal dysplasia tarda with progressive arthropathy, the disorder has a striking clinical, though not radiologic, resemblance to rheumatoid arthritis but has the additional feature of platyspondyly. The 15 patients they studied were distributed in 9 families, of which 4 were Arab. All were considered normal for the first few years of life. In all but 1, joint symptoms began between ages 3 and 8 years. Usually several joints were affected with pain and soft tissue swelling. The proximal interphalangeal joints of the hand were most commonly affected and the hips and elbows next most often involved. Cystic swellings were present on the back of the hands in 2 and over the hallux in 1. Although juvenile rheumatoid arthritis was suggested by the symptoms, none had overt synovitis or elevation of erythrocyte sedimentation rate or acute-phase reactant proteins. Adult height ranged from 1.36 to 1.56 meters. <a href="#15" class="mim-tip-reference" title="Wynne-Davies, R., Hall, C., Ansell, B. M. <strong>Spondylo-epiphyseal dysplasia tarda with progressive arthropathy: a 'new' disorder of autosomal recessive inheritance.</strong> J. Bone Joint Surg. Br. 64: 442-445, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6807993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6807993</a>] [<a href="https://doi.org/10.1302/0301-620X.64B4.6807993" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6807993">Wynne-Davies et al. (1982)</a> suggested that the same disorder may have been present in a case reported by <a href="#10" class="mim-tip-reference" title="Maroteaux, P. <strong>Les Maladies Osseuses de l'Enfant.</strong> Paris: Flammarion Medecin-Sciences (pub.) 1974. Pp. 96-98."None>Maroteaux (1974)</a>. This may be the condition called syndesmodysplasic dwarfism by <a href="#8" class="mim-tip-reference" title="Laplane, R., Fontaine, J.-L., Lagardere, B., Sambury, F. <strong>Nanisme syndesmodysplasique familial: une entite morbide nouvelle.</strong> Arch. Franc. Pediat. 29: 831-838, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4657332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4657332</a>]" pmid="4657332">Laplane et al. (1972)</a>; see <a href="/entry/272450">272450</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6807993+4657332" 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="#11" class="mim-tip-reference" title="Perri, G. <strong>The radiological features of a new bone dysplasia.</strong> Pediat. Radiol. 11: 109-113, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7301445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7301445</a>] [<a href="https://doi.org/10.1007/BF00971792" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7301445">Perri (1981)</a> described the main radiologic features of this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7301445" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Kaibara, N., Takagishi, K., Katsuki, I., Eguchi, M., Masumi, S., Nishio, A. <strong>Spondyloepiphyseal dysplasia tarda with progressive arthropathy.</strong> Skeletal Radiol. 10: 13-16, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6410512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6410512</a>] [<a href="https://doi.org/10.1007/BF00355384" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6410512">Kaibara et al. (1983)</a> reported 3 Japanese families with this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6410512" 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="#1" class="mim-tip-reference" title="Al-Awadi, S. A., Farag, T. I., Naguib, K., El-Khalifa, M. Y., Cuschieri, A., Hosny, G., Zahran, M., Al-Ansari, A. G. <strong>Spondyloepiphyseal dysplasia tarda with progressive arthropathy.</strong> J. Med. Genet. 21: 193-196, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6431106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6431106</a>] [<a href="https://doi.org/10.1136/jmg.21.3.193" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6431106">Al-Awadi et al. (1984)</a> reported a large family with 8 affected persons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6431106" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Legius, E., Mulier, M., Van Damme, B., Fryns, J. P. <strong>Progressive pseudorheumatoid arthritis of childhood (PPAC) and normal adult height.</strong> Clin. Genet. 44: 152-155, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8275575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8275575</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1993.tb03868.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8275575">Legius et al. (1993)</a> described 2 brothers and a sister with this disorder. Stiffness and restricted mobility of several large joints had been present since childhood. Their adult height was normal, and skeletal radiography showed mild platyspondyly, abnormal epiphyses, and severe osteoarthrosis with extensive synovial osteochondromatosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8275575" 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="El-Shanti, H. E., Omari, H. Z., Qubain, H. I. <strong>Progressive pseudorheumatoid dysplasia: report of a family and review.</strong> J. Med. Genet. 34: 559-563, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9222963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9222963</a>] [<a href="https://doi.org/10.1136/jmg.34.7.559" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9222963">El-Shanti et al. (1997)</a> reviewed the clinical and radiologic features of PPRD and reported 6 additional patients. One of these patients had undergone bone biopsy from the iliac crest that showed abnormal nesting of chondrocytes in both resting and proliferative cartilage embedded in material that stained deeply with PAS-alcian blue and toluidin blue. There was defective columnization of cells in growth zones, but normal osteoid formation. The chondrocytes had large Golgi bodies, intracytoplasmic vesicles, and dilated endoplasmic reticular cisterns. The collagen fibers were kinky and of variable thickness. <a href="#2" class="mim-tip-reference" title="El-Shanti, H. E., Omari, H. Z., Qubain, H. I. <strong>Progressive pseudorheumatoid dysplasia: report of a family and review.</strong> J. Med. Genet. 34: 559-563, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9222963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9222963</a>] [<a href="https://doi.org/10.1136/jmg.34.7.559" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9222963">El-Shanti et al. (1997)</a> suggested the addition of the term 'spondyloepiphyseal' to the name of this condition to describe comprehensively the pathology of the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9222963" 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>Clinically and radiographically, patients experience continued cartilage loss and destructive bone changes as they age, in several instances necessitating joint replacement surgery by the third decade of life. Extraskeletal manifestations had not been reported in this disorder. Cartilage appears to be the primary affected tissue, and in 1 patient studied by <a href="#13" class="mim-tip-reference" title="Spranger, J., Albert, C., Schilling, F., Bartsocas, C. <strong>Progressive pseudorheumatoid arthropathy of childhood (PPAC): a hereditary disorder simulating juvenile rheumatoid arthritis. (Letter)</strong> Am. J. Med. Genet. 14: 399-401, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6837637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6837637</a>] [<a href="https://doi.org/10.1002/ajmg.1320140224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6837637">Spranger et al. (1983)</a>, a biopsy of the iliac crest revealed abnormal nests of chondrocytes and loss of normal cell columnar organization in growth zones (<a href="#6" class="mim-tip-reference" title="Hurvitz, J. R., Suwairi, W. M., Van Hul, W., El-Shanti, H., Superti-Furga, A., Roudier, J., Holderbaum, D., Pauli, R. M., Herd, J. K., Van Hul, E., Rezai-Delui, H., Legius, E., Le Merrer, M., Al-Alami, J., Bahabri, S. A., Warman, M. L. <strong>Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.</strong> Nature Genet. 23: 94-98, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10471507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10471507</a>] [<a href="https://doi.org/10.1038/12699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10471507">Hurvitz et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10471507+6837637" 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="#15" class="mim-tip-reference" title="Wynne-Davies, R., Hall, C., Ansell, B. M. <strong>Spondylo-epiphyseal dysplasia tarda with progressive arthropathy: a 'new' disorder of autosomal recessive inheritance.</strong> J. Bone Joint Surg. Br. 64: 442-445, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6807993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6807993</a>] [<a href="https://doi.org/10.1302/0301-620X.64B4.6807993" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6807993">Wynne-Davies et al. (1982)</a> estimated a frequency of 1 per million in the U.K., but the disorder is likely to be higher in the Middle East and Gulf states (<a href="#14" class="mim-tip-reference" title="Teebi, A. S., Al-Awadi, S. A. <strong>Spondyloepiphyseal dysplasia tarda with progressive arthropathy: a rare disorder frequently diagnosed among Arabs. (Letter)</strong> J. Med. Genet. 23: 189-191, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3712405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3712405</a>] [<a href="https://doi.org/10.1136/jmg.23.2.189-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3712405">Teebi and Al-Awadi, 1986</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6807993+3712405" 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="#15" class="mim-tip-reference" title="Wynne-Davies, R., Hall, C., Ansell, B. M. <strong>Spondylo-epiphyseal dysplasia tarda with progressive arthropathy: a 'new' disorder of autosomal recessive inheritance.</strong> J. Bone Joint Surg. Br. 64: 442-445, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6807993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6807993</a>] [<a href="https://doi.org/10.1302/0301-620X.64B4.6807993" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6807993">Wynne-Davies et al. (1982)</a> stated that parental consanguinity and multiple affected brothers and sisters with PPRD pointed to autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6807993" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By the DNA pooling approach to homozygosity mapping, El-Shanti et al. (<a href="#4" class="mim-tip-reference" title="El-Shanti, H., Murray, J., Semina, E., Beutow, K., Scherpbier, T., Al-Alami, J., Al-Khatib, A. <strong>The assignment of the gene responsible for progressive pseudorheumatoid dysplasia to the long arm of chromosome six and examination of COL10A1 as a candidate gene. (Abstract)</strong> Am. J. Hum. Genet. 61 (suppl.): A274 only, 1997."None>1997</a>, <a href="#3" class="mim-tip-reference" title="El-Shanti, H., Murray, J. C., Semina, E. V., Beutow, K. H., Scherpbier, T., Al-Alami, J. <strong>Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene.</strong> Europ. J. Hum. Genet. 6: 251-256, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9781029/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9781029</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9781029">1998</a>) mapped the PPRD locus to 6q in an affected inbred family from Jordan. The mapping made COL10A1 (<a href="/entry/120110">120110</a>) a candidate gene, but no mutation was found within the coding sequence of the gene in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9781029" 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>By linkage analysis of 3 families of different geographic and ethnic origin that included 11 individuals with PPRD, <a href="#5" class="mim-tip-reference" title="Fischer, J., Urtizberea, J. A., Pavek, S., Vandiedonck, C., Bruls, T., Saker, S., Alkatip, Y., Prud'homme, J.-F., Weissenbach, J. <strong>Genetic linkage of progressive pseudorheumatoid dysplasia to a 3-cM interval of chromosome 6q22.</strong> Hum. Genet. 103: 60-64, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9737778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9737778</a>] [<a href="https://doi.org/10.1007/s004390050784" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9737778">Fischer et al. (1998)</a> showed localization to a 3-cM interval of 6q22 between D6S1594 and D6S432. No significant shared haplotype was found for markers of the linked interval in the 3 families analyzed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9737778" 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 positional candidate approach, <a href="#6" class="mim-tip-reference" title="Hurvitz, J. R., Suwairi, W. M., Van Hul, W., El-Shanti, H., Superti-Furga, A., Roudier, J., Holderbaum, D., Pauli, R. M., Herd, J. K., Van Hul, E., Rezai-Delui, H., Legius, E., Le Merrer, M., Al-Alami, J., Bahabri, S. A., Warman, M. L. <strong>Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.</strong> Nature Genet. 23: 94-98, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10471507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10471507</a>] [<a href="https://doi.org/10.1038/12699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10471507">Hurvitz et al. (1999)</a> examined the WISP3 gene, which maps to the same region of 6q, and in unrelated individuals with PPRD and identified 9 different mutations (<a href="/entry/603400#0001">603400.0001</a>-<a href="/entry/603400#0009">603400.0009</a>), indicating that the WISP3 gene is essential for normal postnatal skeletal growth and cartilage homeostasis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10471507" 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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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1136/jmg.21.3.193" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.34.7.559" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9781029/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9781029</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9781029" 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/sj.ejhg.5200187" target="_blank">Full Text</a>]
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<strong>The assignment of the gene responsible for progressive pseudorheumatoid dysplasia to the long arm of chromosome six and examination of COL10A1 as a candidate gene. (Abstract)</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9737778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9737778</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9737778" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s004390050784" target="_blank">Full Text</a>]
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Hurvitz, J. R., Suwairi, W. M., Van Hul, W., El-Shanti, H., Superti-Furga, A., Roudier, J., Holderbaum, D., Pauli, R. M., Herd, J. K., Van Hul, E., Rezai-Delui, H., Legius, E., Le Merrer, M., Al-Alami, J., Bahabri, S. A., Warman, M. L.
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<strong>Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.</strong>
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Nature Genet. 23: 94-98, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10471507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10471507</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10471507" 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/10.1038/12699" target="_blank">Full Text</a>]
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<a id="Kaibara1983" class="mim-anchor"></a>
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Kaibara, N., Takagishi, K., Katsuki, I., Eguchi, M., Masumi, S., Nishio, A.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6410512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6410512</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6410512" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00355384" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4657332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4657332</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4657332" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8275575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8275575</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8275575" 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/10.1111/j.1399-0004.1993.tb03868.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00971792" target="_blank">Full Text</a>]
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Spranger, J., Albert, C., Schilling, F., Bartsocas, C., Stoss, H.
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<strong>Progressive pseudorheumatoid arthritis of childhood (PPAC): a hereditary disorder simulating rheumatoid arthritis.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6873109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6873109</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6873109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00661902" target="_blank">Full Text</a>]
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Spranger, J., Albert, C., Schilling, F., Bartsocas, C.
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<strong>Progressive pseudorheumatoid arthropathy of childhood (PPAC): a hereditary disorder simulating juvenile rheumatoid arthritis. (Letter)</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6837637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6837637</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6837637" 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.1320140224" target="_blank">Full Text</a>]
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Teebi, A. S., Al-Awadi, S. A.
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<strong>Spondyloepiphyseal dysplasia tarda with progressive arthropathy: a rare disorder frequently diagnosed among Arabs. (Letter)</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3712405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3712405</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3712405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.23.2.189-a" target="_blank">Full Text</a>]
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<div class="">
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Wynne-Davies, R., Hall, C., Ansell, B. M.
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<strong>Spondylo-epiphyseal dysplasia tarda with progressive arthropathy: a 'new' disorder of autosomal recessive inheritance.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6807993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6807993</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6807993" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1302/0301-620X.64B4.6807993" target="_blank">Full Text</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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Victor A. McKusick - updated : 8/27/1999
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Victor A. McKusick - updated : 10/1/1998<br>Victor A. McKusick - updated : 8/19/1998<br>Michael J. Wright - updated : 12/18/1997<br>Victor A. McKusick - updated : 10/23/1997
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Victor A. McKusick : 6/3/1986
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carol : 06/07/2023
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carol : 06/07/2023<br>carol : 06/06/2023<br>carol : 02/24/2021<br>carol : 10/07/2020<br>carol : 10/07/2020<br>carol : 07/23/2012<br>terry : 1/13/2011<br>alopez : 6/11/2004<br>alopez : 8/30/1999<br>mgross : 8/27/1999<br>terry : 8/27/1999<br>terry : 10/1/1998<br>terry : 10/1/1998<br>carol : 8/24/1998<br>terry : 8/19/1998<br>alopez : 1/15/1998<br>terry : 12/18/1997<br>terry : 12/18/1997<br>terry : 10/28/1997<br>mark : 10/27/1997<br>terry : 10/23/1997<br>davew : 7/20/1994<br>mimadm : 2/19/1994<br>carol : 11/10/1993<br>carol : 11/5/1993<br>carol : 11/3/1993<br>supermim : 3/16/1992
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<strong>#</strong> 208230
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PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA; PPRD
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PPD<br />
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ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD; PPAC<br />
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PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD<br />
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SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY; SEDT-PA
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<strong>SNOMEDCT:</strong> 254065005;
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<strong>ORPHA:</strong> 1159;
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<strong>DO:</strong> 0090004;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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6q21
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<span class="mim-font">
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Progressive pseudorheumatoid dysplasia
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<span class="mim-font">
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208230
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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CCN6
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<span class="mim-font">
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603400
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that progressive pseudorheumatoid dysplasia (PPRD) is caused by homozygous or compound heterozygous mutation in the WISP3 gene (CCN6; 603400) on chromosome 6q21.</p>
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<strong>Description</strong>
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<p>Progressive pseudorheumatoid dysplasia (PPRD) is an autosomal recessive skeletal dysplasia with radiographic changes similar to those of spondyloepiphyseal dysplasia tarda, and clinical, but not radiographic, resemblance to rheumatoid arthritis. It is a progressive chondropathy affecting primarily the articular cartilage with characteristic skeletal abnormalities notably in the spine (summary by El-Shanti et al., 1997). Signs and symptoms, typically consisting of stiffness and swelling of joints, motor weakness, and joint contractures, usually develop between 3 and 8 years of age (summary by Hurvitz et al., 1999). </p>
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<strong>Clinical Features</strong>
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<p>Spranger et al. (1983) described an arthropathy of childhood beginning at about age 3 years with progressive joint stiffness that first affects the hips. Morning stiffness and decreased mobility of the cervical spine suggest rheumatoid arthritis. Swelling of the finger joints is caused not by soft tissue involvement but by osseous distention of the ends of the phalanges. Normal sedimentation rate, negative rheumatoid factor tests, and histologically normal synovium exclude rheumatoid disease. Furthermore, radiologic changes indicate bone dysplasia: the vertebral bodies are flattened with anterior ossification defects; the acetabular portion of the pelvis is abnormal, and the ends of the proximal and middle phalanges are expanded. The articular space may be narrow, but destructive bone changes characteristic of rheumatoid arthritis are not present. The diagnosis of 'rheumatoid arthritis with Scheuermann disease' is often rendered. Adults with PPRD are somewhat short (140 to 150 cm). Lack of response to antirheumatic drugs is characteristic. Histologic studies (Spranger et al., 1983) showed a peculiar nest-like clustering of chondrocytes in resting and growth cartilage, suggesting that this is a primary disorder of articular cartilage. </p><p>According to Wynne-Davies et al. (1982), who referred to the condition as spondyloepiphyseal dysplasia tarda with progressive arthropathy, the disorder has a striking clinical, though not radiologic, resemblance to rheumatoid arthritis but has the additional feature of platyspondyly. The 15 patients they studied were distributed in 9 families, of which 4 were Arab. All were considered normal for the first few years of life. In all but 1, joint symptoms began between ages 3 and 8 years. Usually several joints were affected with pain and soft tissue swelling. The proximal interphalangeal joints of the hand were most commonly affected and the hips and elbows next most often involved. Cystic swellings were present on the back of the hands in 2 and over the hallux in 1. Although juvenile rheumatoid arthritis was suggested by the symptoms, none had overt synovitis or elevation of erythrocyte sedimentation rate or acute-phase reactant proteins. Adult height ranged from 1.36 to 1.56 meters. Wynne-Davies et al. (1982) suggested that the same disorder may have been present in a case reported by Maroteaux (1974). This may be the condition called syndesmodysplasic dwarfism by Laplane et al. (1972); see 272450. </p><p>Perri (1981) described the main radiologic features of this disorder. </p><p>Kaibara et al. (1983) reported 3 Japanese families with this disorder. </p><p>Al-Awadi et al. (1984) reported a large family with 8 affected persons. </p><p>Legius et al. (1993) described 2 brothers and a sister with this disorder. Stiffness and restricted mobility of several large joints had been present since childhood. Their adult height was normal, and skeletal radiography showed mild platyspondyly, abnormal epiphyses, and severe osteoarthrosis with extensive synovial osteochondromatosis. </p><p>El-Shanti et al. (1997) reviewed the clinical and radiologic features of PPRD and reported 6 additional patients. One of these patients had undergone bone biopsy from the iliac crest that showed abnormal nesting of chondrocytes in both resting and proliferative cartilage embedded in material that stained deeply with PAS-alcian blue and toluidin blue. There was defective columnization of cells in growth zones, but normal osteoid formation. The chondrocytes had large Golgi bodies, intracytoplasmic vesicles, and dilated endoplasmic reticular cisterns. The collagen fibers were kinky and of variable thickness. El-Shanti et al. (1997) suggested the addition of the term 'spondyloepiphyseal' to the name of this condition to describe comprehensively the pathology of the disease. </p><p>Clinically and radiographically, patients experience continued cartilage loss and destructive bone changes as they age, in several instances necessitating joint replacement surgery by the third decade of life. Extraskeletal manifestations had not been reported in this disorder. Cartilage appears to be the primary affected tissue, and in 1 patient studied by Spranger et al. (1983), a biopsy of the iliac crest revealed abnormal nests of chondrocytes and loss of normal cell columnar organization in growth zones (Hurvitz et al., 1999). </p>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Wynne-Davies et al. (1982) estimated a frequency of 1 per million in the U.K., but the disorder is likely to be higher in the Middle East and Gulf states (Teebi and Al-Awadi, 1986). </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Wynne-Davies et al. (1982) stated that parental consanguinity and multiple affected brothers and sisters with PPRD pointed to autosomal recessive 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>By the DNA pooling approach to homozygosity mapping, El-Shanti et al. (1997, 1998) mapped the PPRD locus to 6q in an affected inbred family from Jordan. The mapping made COL10A1 (120110) a candidate gene, but no mutation was found within the coding sequence of the gene in the family. </p><p>By linkage analysis of 3 families of different geographic and ethnic origin that included 11 individuals with PPRD, Fischer et al. (1998) showed localization to a 3-cM interval of 6q22 between D6S1594 and D6S432. No significant shared haplotype was found for markers of the linked interval in the 3 families analyzed. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using a positional candidate approach, Hurvitz et al. (1999) examined the WISP3 gene, which maps to the same region of 6q, and in unrelated individuals with PPRD and identified 9 different mutations (603400.0001-603400.0009), indicating that the WISP3 gene is essential for normal postnatal skeletal growth and cartilage homeostasis. </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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<p class="mim-text-font">
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Al-Awadi, S. A., Farag, T. I., Naguib, K., El-Khalifa, M. Y., Cuschieri, A., Hosny, G., Zahran, M., Al-Ansari, A. G.
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<strong>Spondyloepiphyseal dysplasia tarda with progressive arthropathy.</strong>
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J. Med. Genet. 21: 193-196, 1984.
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[PubMed: 6431106]
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[Full Text: https://doi.org/10.1136/jmg.21.3.193]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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El-Shanti, H. E., Omari, H. Z., Qubain, H. I.
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<strong>Progressive pseudorheumatoid dysplasia: report of a family and review.</strong>
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J. Med. Genet. 34: 559-563, 1997.
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[PubMed: 9222963]
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[Full Text: https://doi.org/10.1136/jmg.34.7.559]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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El-Shanti, H., Murray, J. C., Semina, E. V., Beutow, K. H., Scherpbier, T., Al-Alami, J.
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<strong>Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene.</strong>
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Europ. J. Hum. Genet. 6: 251-256, 1998.
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[PubMed: 9781029]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200187]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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El-Shanti, H., Murray, J., Semina, E., Beutow, K., Scherpbier, T., Al-Alami, J., Al-Khatib, A.
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<strong>The assignment of the gene responsible for progressive pseudorheumatoid dysplasia to the long arm of chromosome six and examination of COL10A1 as a candidate gene. (Abstract)</strong>
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Am. J. Hum. Genet. 61 (suppl.): A274 only, 1997.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Fischer, J., Urtizberea, J. A., Pavek, S., Vandiedonck, C., Bruls, T., Saker, S., Alkatip, Y., Prud'homme, J.-F., Weissenbach, J.
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<strong>Genetic linkage of progressive pseudorheumatoid dysplasia to a 3-cM interval of chromosome 6q22.</strong>
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Hum. Genet. 103: 60-64, 1998.
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[PubMed: 9737778]
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[Full Text: https://doi.org/10.1007/s004390050784]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hurvitz, J. R., Suwairi, W. M., Van Hul, W., El-Shanti, H., Superti-Furga, A., Roudier, J., Holderbaum, D., Pauli, R. M., Herd, J. K., Van Hul, E., Rezai-Delui, H., Legius, E., Le Merrer, M., Al-Alami, J., Bahabri, S. A., Warman, M. L.
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<strong>Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.</strong>
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Nature Genet. 23: 94-98, 1999.
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[PubMed: 10471507]
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[Full Text: https://doi.org/10.1038/12699]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kaibara, N., Takagishi, K., Katsuki, I., Eguchi, M., Masumi, S., Nishio, A.
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<strong>Spondyloepiphyseal dysplasia tarda with progressive arthropathy.</strong>
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Skeletal Radiol. 10: 13-16, 1983.
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[PubMed: 6410512]
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[Full Text: https://doi.org/10.1007/BF00355384]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Laplane, R., Fontaine, J.-L., Lagardere, B., Sambury, F.
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<strong>Nanisme syndesmodysplasique familial: une entite morbide nouvelle.</strong>
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Arch. Franc. Pediat. 29: 831-838, 1972.
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[PubMed: 4657332]
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<p class="mim-text-font">
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Legius, E., Mulier, M., Van Damme, B., Fryns, J. P.
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<strong>Progressive pseudorheumatoid arthritis of childhood (PPAC) and normal adult height.</strong>
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Clin. Genet. 44: 152-155, 1993.
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[PubMed: 8275575]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1993.tb03868.x]
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</li>
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Maroteaux, P.
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<strong>Les Maladies Osseuses de l'Enfant.</strong>
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Paris: Flammarion Medecin-Sciences (pub.) 1974. Pp. 96-98.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Perri, G.
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<strong>The radiological features of a new bone dysplasia.</strong>
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Pediat. Radiol. 11: 109-113, 1981.
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[PubMed: 7301445]
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[Full Text: https://doi.org/10.1007/BF00971792]
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Spranger, J., Albert, C., Schilling, F., Bartsocas, C., Stoss, H.
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<strong>Progressive pseudorheumatoid arthritis of childhood (PPAC): a hereditary disorder simulating rheumatoid arthritis.</strong>
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Europ. J. Pediat. 140: 34-40, 1983.
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[PubMed: 6873109]
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[Full Text: https://doi.org/10.1007/BF00661902]
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Spranger, J., Albert, C., Schilling, F., Bartsocas, C.
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<strong>Progressive pseudorheumatoid arthropathy of childhood (PPAC): a hereditary disorder simulating juvenile rheumatoid arthritis. (Letter)</strong>
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Am. J. Med. Genet. 14: 399-401, 1983.
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[PubMed: 6837637]
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[Full Text: https://doi.org/10.1002/ajmg.1320140224]
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Teebi, A. S., Al-Awadi, S. A.
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<strong>Spondyloepiphyseal dysplasia tarda with progressive arthropathy: a rare disorder frequently diagnosed among Arabs. (Letter)</strong>
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J. Med. Genet. 23: 189-191, 1986.
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[PubMed: 3712405]
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[Full Text: https://doi.org/10.1136/jmg.23.2.189-a]
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<p class="mim-text-font">
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Wynne-Davies, R., Hall, C., Ansell, B. M.
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<strong>Spondylo-epiphyseal dysplasia tarda with progressive arthropathy: a 'new' disorder of autosomal recessive inheritance.</strong>
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J. Bone Joint Surg. Br. 64: 442-445, 1982.
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[PubMed: 6807993]
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[Full Text: https://doi.org/10.1302/0301-620X.64B4.6807993]
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Victor A. McKusick - updated : 8/27/1999<br>Victor A. McKusick - updated : 10/1/1998<br>Victor A. McKusick - updated : 8/19/1998<br>Michael J. Wright - updated : 12/18/1997<br>Victor A. McKusick - updated : 10/23/1997
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Victor A. McKusick : 6/3/1986
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carol : 06/07/2023<br>carol : 06/07/2023<br>carol : 06/06/2023<br>carol : 02/24/2021<br>carol : 10/07/2020<br>carol : 10/07/2020<br>carol : 07/23/2012<br>terry : 1/13/2011<br>alopez : 6/11/2004<br>alopez : 8/30/1999<br>mgross : 8/27/1999<br>terry : 8/27/1999<br>terry : 10/1/1998<br>terry : 10/1/1998<br>carol : 8/24/1998<br>terry : 8/19/1998<br>alopez : 1/15/1998<br>terry : 12/18/1997<br>terry : 12/18/1997<br>terry : 10/28/1997<br>mark : 10/27/1997<br>terry : 10/23/1997<br>davew : 7/20/1994<br>mimadm : 2/19/1994<br>carol : 11/10/1993<br>carol : 11/5/1993<br>carol : 11/3/1993<br>supermim : 3/16/1992
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