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<title>
Entry
- #616583 - SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE; SEDSTN
- OMIM
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<span class="h4">#616583</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/616583"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#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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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
<div class="panel-body small mim-panel-body">
<div><a href="https://clinicaltrials.gov/search?cond=(SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE) OR (COL2A1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=23769&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>
<div><a href="https://medlineplus.gov/genetics/condition/spondyloepiphyseal-dysplasia-with-marked-metaphyseal-changes" 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>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=616583[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>
<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=459051" 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>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/27f5dbfe-26d2-4deb-81e5-c8d438c06d6f/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>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
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</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0112281" 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>
<div><a href="http://www.informatics.jax.org/disease/616583" 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>
</div>
</div>
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<span>
<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.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 1228860003<br />
<strong>ORPHA:</strong> 459051<br />
<strong>DO:</strong> 0112281<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
616583
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE; SEDSTN
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
SED, STANESCU TYPE
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/325?start=-3&limit=10&highlight=325">
12q13.11
</a>
</span>
</td>
<td>
<span class="mim-font">
Spondyloepiphyseal dysplasia, Stanescu type
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616583"> 616583 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
COL2A1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120140"> 120140 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/616583" 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="sr-only">Toggle Dropdown</span>
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&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/616583" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/616583" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Normal height <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/309534003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">309534003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0587053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0587053</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Limited mouth opening (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848474&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848474</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000211" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000211</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000211" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000211</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Neck </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Neck stiffness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/161882006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">161882006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151315&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151315</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025258" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025258</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025258" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025258</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- 'Z'-posture (due to hip and knee flexion) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228310</a>]</span><br /> -
Accumulation of glycoprotein in chondrocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228309&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228309</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">
- Stiffness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271587009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271587009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427008&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427008</a>]</span><br /> -
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 /> -
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 wedging <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/19888007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">19888007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M48.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M48.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856599&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856599</a>, <a href="https://bioportal.bioontology.org/search?q=C0264112&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0264112</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008422" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008422</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004568</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008422" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008422</a>]</span><br /> -
Elongated vertebral bodies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4539556&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4539556</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">
- Hypoplastic ilia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861218</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000946" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000946</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000946" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000946</a>]</span><br /> -
Flat acetabulum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1386024&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1386024</a>]</span><br /> -
Coxa valga <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33754009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33754009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16979000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16979000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299236004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299236004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q65.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q65.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.61</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/736.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158480</a>, <a href="https://bioportal.bioontology.org/search?q=C0152430&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152430</a>, <a href="https://bioportal.bioontology.org/search?q=C0239137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239137</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002673" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002673</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002673" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002673</a>]</span><br />
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<em> Limbs </em>
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<div style="margin-left: 2em;">
<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 pain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57676002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57676002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M25.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M25.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/719.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.40</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/719.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4085641&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4085641</a>, <a href="https://bioportal.bioontology.org/search?q=C0003862&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003862</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002829</a>]</span><br /> -
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 /> -
Flexion contractures, especially at hip and knee <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228308&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228308</a>]</span><br /> -
Epiphyseal flattening of long bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228307&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228307</a>]</span><br /> -
Metaphyseal splaying or irregularity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228306&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228306</a>]</span><br /> -
Flattened and irregular femoral head <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228305&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228305</a>]</span><br /> -
Broadening of proximal femora <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228304&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228304</a>]</span><br /> -
Elongation of proximal femora (seen in some children but not in adults) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4539557&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4539557</a>]</span><br />
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<em> Hands </em>
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- Prominent metaphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228302&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228302</a>]</span><br /> -
Contractures of finger joints <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/239737007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">239737007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0343146&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0343146</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034681" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034681</a>]</span><br /> -
Bulbous ends of short tubular bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4539558&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4539558</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Symptoms appear in early childhood and are progressive<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the collagen II, alpha-polypeptide gene (COL2A1, <a href="/entry/120140#0055">120140.0055</a>)<br />
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<p>A number sign (#) is used with this entry because of evidence that the Stanescu type of spondyloepiphyseal dysplasia (SEDSTN) is caused by heterozygous mutation in the COL2A1 gene (<a href="/entry/120140">120140</a>) on chromosome 12q13.</p>
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<strong>Description</strong>
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<p>Spondyloepiphyseal dysplasia with accumulation of glycoprotein in chondrocytes has been designated the 'Stanescu type.' Clinical hallmarks include progressive joint contracture with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Interphalangeal joints of the hands are swollen due to osseous distention of the metaphyseal ends of the phalanges. Affected individuals may be relatively tall despite the presence of a short trunk. Radiologically, there is generalized platyspondyly with mild modification of the endplates, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands. In addition, the proximal femora are characteristically broad and elongated with striking coxa valga (summary by <a href="#4" class="mim-tip-reference" title="Nishimura, G., Saitoh, Y., Okuzumi, S., Imaizumi, K., Hayasaka, K., Hashimoto, M. &lt;strong&gt;Spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes: spondyloepiphyseal dysplasia, Stanescu type.&lt;/strong&gt; Skeletal Radiol. 27: 188-194, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9592900/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9592900&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s002560050363&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9592900">Nishimura et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9592900" 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>Clinical Features</strong>
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<p><a href="#5" class="mim-tip-reference" title="Stanescu, R., Stanescu, V., Maroteaux, P. &lt;strong&gt;Dysplasie spondylo-epiphysaire avec accumulation de glycoproteines dans les chondrocytes.&lt;/strong&gt; Arch. Franc. Pediat. 41: 185-189, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6430256/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6430256&lt;/a&gt;]" pmid="6430256">Stanescu et al. (1984)</a> reported a French boy who presented with difficulty in walking. Examination at 10.5 years of age showed normal height with mild genu valgum. Joints were enlarged, especially the elbows and knees, hip flexion was limited except on external rotation, and he had a waddling gait. Other features included hearing loss, which required hearing aids by age 20 years, and mild myopia. His parents were nonconsanguineous, and he had 2 healthy brothers. X-rays showed massive enlargement of long bone epiphyses with enlargement of the adjacent metaphyses as well. The most striking finding, however, involved the femoral necks, which were very enlarged, particularly distally, and showed valgus deformation. The iliac wings appeared small in comparison, with poor coverage of the femoral heads. The metacarpal metaphyses were also enlarged, with epiphyses that were increased in size and mildly flattened. The height of all vertebral bodies was slightly reduced. Tibial growth cartilage biopsy showed significant cellularity and irregularly arranged chondrocytes, with moderate hypertrophy along the ossification line. Histochemical analysis revealed metachromasia in the growth zone, which was reduced in the resting zone. Cells in all zones were larger than normal and contained what appeared to be glycoprotein inclusions. Electrophoretic analysis of proteoglycans was normal, but analysis of noncollagenous protein bands showed some alterations, with significant reduction in P1 and a mild decrease in P4 and P5. <a href="#5" class="mim-tip-reference" title="Stanescu, R., Stanescu, V., Maroteaux, P. &lt;strong&gt;Dysplasie spondylo-epiphysaire avec accumulation de glycoproteines dans les chondrocytes.&lt;/strong&gt; Arch. Franc. Pediat. 41: 185-189, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6430256/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6430256&lt;/a&gt;]" pmid="6430256">Stanescu et al. (1984)</a> concluded that the disorder in this patient represented an unusual form of spondyloepiphyseal dysplasia with normal stature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6430256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Nishimura, G., Saitoh, Y., Okuzumi, S., Imaizumi, K., Hayasaka, K., Hashimoto, M. &lt;strong&gt;Spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes: spondyloepiphyseal dysplasia, Stanescu type.&lt;/strong&gt; Skeletal Radiol. 27: 188-194, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9592900/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9592900&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s002560050363&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9592900">Nishimura et al. (1998)</a> examined 3 affected individuals from 2 unrelated Japanese families segregating a bone dysplasia in an autosomal dominant fashion. The proband of the first family had an unsteady gait from 2 years of age, with a tendency to fall on ambulation; he was referred for evaluation of knee deformity and back pain at age 10 years. His father reported flexion contractures of the fingers and knees in childhood that gradually worsened. The proband in the second family noted painful knees and ankles after athletic activity at 7 years of age, and at age 14 presented for evaluation of left hip pain while walking. All 3 patients had painful large joints with joint restriction, progressive contracture of the finger joints with osseous expansion, and normal height despite the presence of a short trunk. Moderate platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and characteristically broad elongated femoral necks were identical in all 3 patients. However, the proband from the second family exhibited severe brachydactyly, which was not seen in the father and son from the first family. Histologic examination of an iliac crest biopsy showed PAS-positive, amylase-resistant intracytoplasmic inclusion bodies in the chondrocytes, corresponding to dilated rough endoplasmic reticulum filled with moderately electron-dense material on electron microscopy. <a href="#4" class="mim-tip-reference" title="Nishimura, G., Saitoh, Y., Okuzumi, S., Imaizumi, K., Hayasaka, K., Hashimoto, M. &lt;strong&gt;Spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes: spondyloepiphyseal dysplasia, Stanescu type.&lt;/strong&gt; Skeletal Radiol. 27: 188-194, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9592900/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9592900&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s002560050363&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9592900">Nishimura et al. (1998)</a> stated that the clinical and radiologic features in these patients were identical to those seen in the spondyloepiphyseal dysplasia reported by <a href="#5" class="mim-tip-reference" title="Stanescu, R., Stanescu, V., Maroteaux, P. &lt;strong&gt;Dysplasie spondylo-epiphysaire avec accumulation de glycoproteines dans les chondrocytes.&lt;/strong&gt; Arch. Franc. Pediat. 41: 185-189, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6430256/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6430256&lt;/a&gt;]" pmid="6430256">Stanescu et al. (1984)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6430256+9592900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Jurgens, J., Sobreira, N., Modaff, P., Reiser, C. A., Seo, S. H., Seong, M.-W., Park, S. S., Kim, O. H., Cho, T.-J., Pauli, R. M. &lt;strong&gt;Novel COL2A1 variant (c.619G-A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.&lt;/strong&gt; Hum. Mutat. 36: 1004-1008, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26183434/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;26183434&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.22839&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="26183434">Jurgens et al. (2015)</a> studied 3 affected individuals from 2 unrelated families with spondyloepiphyseal dysplasia of the Stanescu type. The 38-year-old proband of the first family was originally reported by <a href="#2" 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. &lt;strong&gt;Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.&lt;/strong&gt; Nature Genet. 23: 94-98, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10471507/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10471507&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/12699&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10471507">Hurvitz et al. (1999)</a> as having progressive pseudorheumatoid dysplasia (<a href="/entry/208230">208230</a>), but was negative for mutation in the WISP3 gene (<a href="/entry/603400">603400</a>). She had a daughter who was also affected. The proband of the second family was a Korean boy born of unaffected nonconsanguineous parents. All 3 patients were noted to have a waddling gait in early childhood. They developed progressive joint stiffness and pain with flexion contractures of the hips and knees resulting in difficulty with mobility and a 'Z' posture upon standing. Spine radiographs showed platyspondyly and anterior wedging, as well as generalized joint space narrowing and metaphyseal irregularity. The mother underwent bilateral hip and knee replacements at ages 25 and 26, respectively. She developed progressive thoracolumbar kyphosis with severe spinal stenosis by age 35 requiring laminectomy and spinal fusion, after which she remained ambulatory. Her daughter, who developed kyphosis and progressive scoliosis in adolescence, had severe pain with ambulation and could only walk short distances with crutches by her third decade of life. At 10.5 years of age, the Korean boy could walk only with assistance due to joint pain and limb muscle weakness from prolonged disuse, and had 20-degree flexion contractures at the hips and knees. <a href="#3" class="mim-tip-reference" title="Jurgens, J., Sobreira, N., Modaff, P., Reiser, C. A., Seo, S. H., Seong, M.-W., Park, S. S., Kim, O. H., Cho, T.-J., Pauli, R. M. &lt;strong&gt;Novel COL2A1 variant (c.619G-A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.&lt;/strong&gt; Hum. Mutat. 36: 1004-1008, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26183434/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;26183434&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.22839&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="26183434">Jurgens et al. (2015)</a> noted phenotypic overlap between their patients and previously reported patients with Stanescu SED; however, because they did not have access to the patients' chondrocytes, they were unable to test for the characteristic cytoplasmic inclusions. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10471507+26183434" 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="Hammarsjo, A., Nordgren, A., Lagerstedt-Robinson, K., Malmgren, H., Nilsson, D., Wedren, S., Nordenskjold, M., Nishimura, G., Grigelioniene, G. &lt;strong&gt;Pathogenenic (sic) variant in the CL2A1 gene is associated with spondyloepiphyseal dysplasia type Stanescu.&lt;/strong&gt; Am. J. Med. Genet. 170A: 266-269, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26420734/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;26420734&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.37387&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="26420734">Hammarsjo et al. (2015)</a> examined 6 affected members of a 3-generation family with the Stanescu type of spondyloepiphyseal dysplasia. All affected individuals presented with progressive joint disease of varying severity, with age of onset ranging from 1 to 20 years. The most prominent sign was early onset of pain and deformities, particularly involving the knee, hip, and finger joints. Skeletal survey of the 25-year-old male proband revealed features consistent with SEDSTN, including moderate platyspondyly with elongated vertebral bodies and endplate irregularities, mild iliac hypoplasia, mild epiphyseal flattening of hip and knee, and bulbous ends of short tubular bones. <a href="#1" class="mim-tip-reference" title="Hammarsjo, A., Nordgren, A., Lagerstedt-Robinson, K., Malmgren, H., Nilsson, D., Wedren, S., Nordenskjold, M., Nishimura, G., Grigelioniene, G. &lt;strong&gt;Pathogenenic (sic) variant in the CL2A1 gene is associated with spondyloepiphyseal dysplasia type Stanescu.&lt;/strong&gt; Am. J. Med. Genet. 170A: 266-269, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26420734/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;26420734&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.37387&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="26420734">Hammarsjo et al. (2015)</a> noted that elongation of the femoral neck, seen on x-ray of the proband at age 15 years, was not observed in pelvic films from 4 affected adults, indicating that this is an age-dependent feature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26420734" 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>Molecular Genetics</strong>
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<p>In a mother and daughter with the Stanescu type of spondyloepiphyseal dysplasia, <a href="#3" class="mim-tip-reference" title="Jurgens, J., Sobreira, N., Modaff, P., Reiser, C. A., Seo, S. H., Seong, M.-W., Park, S. S., Kim, O. H., Cho, T.-J., Pauli, R. M. &lt;strong&gt;Novel COL2A1 variant (c.619G-A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.&lt;/strong&gt; Hum. Mutat. 36: 1004-1008, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26183434/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;26183434&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.22839&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="26183434">Jurgens et al. (2015)</a> performed whole-exome sequencing and identified a heterozygous missense mutation in the COL2A1 gene (G207R; <a href="/entry/120140#0055">120140.0055</a>). The mutation was not present in the unaffected maternal grandmother; DNA from the maternal grandfather was unavailable. <a href="#3" class="mim-tip-reference" title="Jurgens, J., Sobreira, N., Modaff, P., Reiser, C. A., Seo, S. H., Seong, M.-W., Park, S. S., Kim, O. H., Cho, T.-J., Pauli, R. M. &lt;strong&gt;Novel COL2A1 variant (c.619G-A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.&lt;/strong&gt; Hum. Mutat. 36: 1004-1008, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26183434/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;26183434&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.22839&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="26183434">Jurgens et al. (2015)</a> sequenced COL2A1 in a similarly affected Korean boy and identified heterozygosity for the same missense mutation. The mutation was not present in either of his unaffected parents, indicating de novo occurrence in the proband. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26183434" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an affected member of a 3-generation family with SEDSTN, <a href="#1" class="mim-tip-reference" title="Hammarsjo, A., Nordgren, A., Lagerstedt-Robinson, K., Malmgren, H., Nilsson, D., Wedren, S., Nordenskjold, M., Nishimura, G., Grigelioniene, G. &lt;strong&gt;Pathogenenic (sic) variant in the CL2A1 gene is associated with spondyloepiphyseal dysplasia type Stanescu.&lt;/strong&gt; Am. J. Med. Genet. 170A: 266-269, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26420734/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;26420734&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.37387&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="26420734">Hammarsjo et al. (2015)</a> analyzed a skeletal gene panel including 347 genes, and identified heterozygosity for a missense mutation in the COL2A1 gene (D1219H; <a href="/entry/120140#0056">120140.0056</a>). Sanger sequencing confirmed that the mutation segregated with disease in the family, and the mutation was not found in 249 exomes from a local ethnically mixed population or in public variant databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26420734" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="1" class="mim-anchor"></a>
<a id="Hammarsjo2015" class="mim-anchor"></a>
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Hammarsjo, A., Nordgren, A., Lagerstedt-Robinson, K., Malmgren, H., Nilsson, D., Wedren, S., Nordenskjold, M., Nishimura, G., Grigelioniene, G.
<strong>Pathogenenic (sic) variant in the CL2A1 gene is associated with spondyloepiphyseal dysplasia type Stanescu.</strong>
Am. J. Med. Genet. 170A: 266-269, 2015.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26420734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26420734</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26420734" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.37387" target="_blank">Full Text</a>]
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<a id="Hurvitz1999" class="mim-anchor"></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.
<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://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>]
[<a href="https://doi.org/10.1038/12699" target="_blank">Full Text</a>]
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Jurgens, J., Sobreira, N., Modaff, P., Reiser, C. A., Seo, S. H., Seong, M.-W., Park, S. S., Kim, O. H., Cho, T.-J., Pauli, R. M.
<strong>Novel COL2A1 variant (c.619G-A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.</strong>
Hum. Mutat. 36: 1004-1008, 2015.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26183434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26183434</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26183434" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.22839" target="_blank">Full Text</a>]
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<a id="Nishimura1998" class="mim-anchor"></a>
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Nishimura, G., Saitoh, Y., Okuzumi, S., Imaizumi, K., Hayasaka, K., Hashimoto, M.
<strong>Spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes: spondyloepiphyseal dysplasia, Stanescu type.</strong>
Skeletal Radiol. 27: 188-194, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9592900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9592900</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9592900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s002560050363" target="_blank">Full Text</a>]
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Stanescu, R., Stanescu, V., Maroteaux, P.
<strong>Dysplasie spondylo-epiphysaire avec accumulation de glycoproteines dans les chondrocytes.</strong>
Arch. Franc. Pediat. 41: 185-189, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6430256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6430256</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6430256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Marla J. F. O'Neill - updated : 02/02/2016
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carol : 11/08/2017
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carol : 02/02/2016<br>carol : 10/1/2015
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<strong>#</strong> 616583
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SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE; SEDSTN
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<em>Alternative titles; symbols</em>
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SED, STANESCU TYPE
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<strong>SNOMEDCT:</strong> 1228860003; &nbsp;
<strong>ORPHA:</strong> 459051; &nbsp;
<strong>DO:</strong> 0112281; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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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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12q13.11
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Spondyloepiphyseal dysplasia, Stanescu type
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616583
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Autosomal dominant
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3
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COL2A1
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120140
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that the Stanescu type of spondyloepiphyseal dysplasia (SEDSTN) is caused by heterozygous mutation in the COL2A1 gene (120140) on chromosome 12q13.</p>
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<strong>Description</strong>
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<p>Spondyloepiphyseal dysplasia with accumulation of glycoprotein in chondrocytes has been designated the 'Stanescu type.' Clinical hallmarks include progressive joint contracture with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Interphalangeal joints of the hands are swollen due to osseous distention of the metaphyseal ends of the phalanges. Affected individuals may be relatively tall despite the presence of a short trunk. Radiologically, there is generalized platyspondyly with mild modification of the endplates, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands. In addition, the proximal femora are characteristically broad and elongated with striking coxa valga (summary by Nishimura et al., 1998). </p>
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<strong>Clinical Features</strong>
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<p>Stanescu et al. (1984) reported a French boy who presented with difficulty in walking. Examination at 10.5 years of age showed normal height with mild genu valgum. Joints were enlarged, especially the elbows and knees, hip flexion was limited except on external rotation, and he had a waddling gait. Other features included hearing loss, which required hearing aids by age 20 years, and mild myopia. His parents were nonconsanguineous, and he had 2 healthy brothers. X-rays showed massive enlargement of long bone epiphyses with enlargement of the adjacent metaphyses as well. The most striking finding, however, involved the femoral necks, which were very enlarged, particularly distally, and showed valgus deformation. The iliac wings appeared small in comparison, with poor coverage of the femoral heads. The metacarpal metaphyses were also enlarged, with epiphyses that were increased in size and mildly flattened. The height of all vertebral bodies was slightly reduced. Tibial growth cartilage biopsy showed significant cellularity and irregularly arranged chondrocytes, with moderate hypertrophy along the ossification line. Histochemical analysis revealed metachromasia in the growth zone, which was reduced in the resting zone. Cells in all zones were larger than normal and contained what appeared to be glycoprotein inclusions. Electrophoretic analysis of proteoglycans was normal, but analysis of noncollagenous protein bands showed some alterations, with significant reduction in P1 and a mild decrease in P4 and P5. Stanescu et al. (1984) concluded that the disorder in this patient represented an unusual form of spondyloepiphyseal dysplasia with normal stature. </p><p>Nishimura et al. (1998) examined 3 affected individuals from 2 unrelated Japanese families segregating a bone dysplasia in an autosomal dominant fashion. The proband of the first family had an unsteady gait from 2 years of age, with a tendency to fall on ambulation; he was referred for evaluation of knee deformity and back pain at age 10 years. His father reported flexion contractures of the fingers and knees in childhood that gradually worsened. The proband in the second family noted painful knees and ankles after athletic activity at 7 years of age, and at age 14 presented for evaluation of left hip pain while walking. All 3 patients had painful large joints with joint restriction, progressive contracture of the finger joints with osseous expansion, and normal height despite the presence of a short trunk. Moderate platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and characteristically broad elongated femoral necks were identical in all 3 patients. However, the proband from the second family exhibited severe brachydactyly, which was not seen in the father and son from the first family. Histologic examination of an iliac crest biopsy showed PAS-positive, amylase-resistant intracytoplasmic inclusion bodies in the chondrocytes, corresponding to dilated rough endoplasmic reticulum filled with moderately electron-dense material on electron microscopy. Nishimura et al. (1998) stated that the clinical and radiologic features in these patients were identical to those seen in the spondyloepiphyseal dysplasia reported by Stanescu et al. (1984). </p><p>Jurgens et al. (2015) studied 3 affected individuals from 2 unrelated families with spondyloepiphyseal dysplasia of the Stanescu type. The 38-year-old proband of the first family was originally reported by Hurvitz et al. (1999) as having progressive pseudorheumatoid dysplasia (208230), but was negative for mutation in the WISP3 gene (603400). She had a daughter who was also affected. The proband of the second family was a Korean boy born of unaffected nonconsanguineous parents. All 3 patients were noted to have a waddling gait in early childhood. They developed progressive joint stiffness and pain with flexion contractures of the hips and knees resulting in difficulty with mobility and a 'Z' posture upon standing. Spine radiographs showed platyspondyly and anterior wedging, as well as generalized joint space narrowing and metaphyseal irregularity. The mother underwent bilateral hip and knee replacements at ages 25 and 26, respectively. She developed progressive thoracolumbar kyphosis with severe spinal stenosis by age 35 requiring laminectomy and spinal fusion, after which she remained ambulatory. Her daughter, who developed kyphosis and progressive scoliosis in adolescence, had severe pain with ambulation and could only walk short distances with crutches by her third decade of life. At 10.5 years of age, the Korean boy could walk only with assistance due to joint pain and limb muscle weakness from prolonged disuse, and had 20-degree flexion contractures at the hips and knees. Jurgens et al. (2015) noted phenotypic overlap between their patients and previously reported patients with Stanescu SED; however, because they did not have access to the patients' chondrocytes, they were unable to test for the characteristic cytoplasmic inclusions. </p><p>Hammarsjo et al. (2015) examined 6 affected members of a 3-generation family with the Stanescu type of spondyloepiphyseal dysplasia. All affected individuals presented with progressive joint disease of varying severity, with age of onset ranging from 1 to 20 years. The most prominent sign was early onset of pain and deformities, particularly involving the knee, hip, and finger joints. Skeletal survey of the 25-year-old male proband revealed features consistent with SEDSTN, including moderate platyspondyly with elongated vertebral bodies and endplate irregularities, mild iliac hypoplasia, mild epiphyseal flattening of hip and knee, and bulbous ends of short tubular bones. Hammarsjo et al. (2015) noted that elongation of the femoral neck, seen on x-ray of the proband at age 15 years, was not observed in pelvic films from 4 affected adults, indicating that this is an age-dependent feature. </p>
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<strong>Molecular Genetics</strong>
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<p>In a mother and daughter with the Stanescu type of spondyloepiphyseal dysplasia, Jurgens et al. (2015) performed whole-exome sequencing and identified a heterozygous missense mutation in the COL2A1 gene (G207R; 120140.0055). The mutation was not present in the unaffected maternal grandmother; DNA from the maternal grandfather was unavailable. Jurgens et al. (2015) sequenced COL2A1 in a similarly affected Korean boy and identified heterozygosity for the same missense mutation. The mutation was not present in either of his unaffected parents, indicating de novo occurrence in the proband. </p><p>In an affected member of a 3-generation family with SEDSTN, Hammarsjo et al. (2015) analyzed a skeletal gene panel including 347 genes, and identified heterozygosity for a missense mutation in the COL2A1 gene (D1219H; 120140.0056). Sanger sequencing confirmed that the mutation segregated with disease in the family, and the mutation was not found in 249 exomes from a local ethnically mixed population or in public variant databases. </p>
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<strong>REFERENCES</strong>
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Hammarsjo, A., Nordgren, A., Lagerstedt-Robinson, K., Malmgren, H., Nilsson, D., Wedren, S., Nordenskjold, M., Nishimura, G., Grigelioniene, G.
<strong>Pathogenenic (sic) variant in the CL2A1 gene is associated with spondyloepiphyseal dysplasia type Stanescu.</strong>
Am. J. Med. Genet. 170A: 266-269, 2015.
[PubMed: 26420734]
[Full Text: https://doi.org/10.1002/ajmg.a.37387]
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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.
<strong>Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.</strong>
Nature Genet. 23: 94-98, 1999.
[PubMed: 10471507]
[Full Text: https://doi.org/10.1038/12699]
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Jurgens, J., Sobreira, N., Modaff, P., Reiser, C. A., Seo, S. H., Seong, M.-W., Park, S. S., Kim, O. H., Cho, T.-J., Pauli, R. M.
<strong>Novel COL2A1 variant (c.619G-A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.</strong>
Hum. Mutat. 36: 1004-1008, 2015.
[PubMed: 26183434]
[Full Text: https://doi.org/10.1002/humu.22839]
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Nishimura, G., Saitoh, Y., Okuzumi, S., Imaizumi, K., Hayasaka, K., Hashimoto, M.
<strong>Spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes: spondyloepiphyseal dysplasia, Stanescu type.</strong>
Skeletal Radiol. 27: 188-194, 1998.
[PubMed: 9592900]
[Full Text: https://doi.org/10.1007/s002560050363]
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Stanescu, R., Stanescu, V., Maroteaux, P.
<strong>Dysplasie spondylo-epiphysaire avec accumulation de glycoproteines dans les chondrocytes.</strong>
Arch. Franc. Pediat. 41: 185-189, 1984.
[PubMed: 6430256]
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Marla J. F. O&#x27;Neill - updated : 11/08/2017<br>Marla J. F. O&#x27;Neill - updated : 02/02/2016
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Marla J. F. O&#x27;Neill : 10/1/2015
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carol : 11/08/2017<br>carol : 02/02/2016<br>carol : 10/1/2015
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