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Entry
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- #277300 - SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE; SCDO1
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- OMIM
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<p>
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<span class="h4">#277300</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/277300"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS277300"> <strong>Phenotypic Series</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="#biochemicalFeatures">Biochemical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#heterogeneity">Heterogeneity</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</div>
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</h4>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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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=SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE" 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=1042&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/NBK8828/" 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/6845" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=277300[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=2311" 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/befec97e-865f-4ff6-90d9-c35816f09482/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0112365" 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/277300" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA001046/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0112365" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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</span>
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</span>
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<div id="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:277300" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<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">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 61367005<br />
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<strong>ORPHA:</strong> 2311<br />
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<strong>DO:</strong> 0112365<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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277300
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE; SCDO1
|
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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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VERTEBRAL ANOMALIES<br />
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JARCHO-LEVIN SYNDROME<br />
|
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SPONDYLOTHORACIC DYSPLASIA<br />
|
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COSTOVERTEBRAL DYSPLASIA<br />
|
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SPONDYLOTHORACIC DYSOSTOSIS
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
|
</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/19/685?start=-3&limit=10&highlight=685">
|
|
19q13.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Spondylocostal dysostosis 1, autosomal recessive
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/277300"> 277300 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
|
|
DLL3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602768"> 602768 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/277300" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS277300" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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/277300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/277300" 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 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 />
|
|
|
|
</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">
|
|
|
|
- Dwarfism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>]</span><br /> -
|
|
Short trunk <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521527&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521527</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Normal length limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5194247&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5194247</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> Neck </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short neck <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95427009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95427009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521525&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521525</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Neck,Short-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Respiratory infection <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275498002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275498002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035243&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035243</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011947" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011947</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011947" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011947</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ribs Sternum Clavicles & Scapulae </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Rib anomalies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842083&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842083</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000772" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000772</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000772" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000772</a>]</span><br /> -
|
|
Fused ribs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/66102006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">66102006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265695&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265695</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000902" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000902</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000902" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000902</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>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hemivertebrae <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/68359008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">68359008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.49" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.49</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/756.14" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">756.14</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265677&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265677</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002937" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002937</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002937" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002937</a>]</span><br /> -
|
|
Vertebral fusion <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278509&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278509</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002948" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002948</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002948" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002948</a>]</span><br /> -
|
|
Block vertebrae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844753&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844753</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003305</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003305</a>]</span><br /> -
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Abnormal odontoid process <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864794&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864794</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003310</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003310</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> Limbs </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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- Normal length limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5194247&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5194247</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Infantile death <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858430&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858430</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001522" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001522</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001522" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001522</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> 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 delta like canonical Notch ligand 3 gene (DLL3, <a href="/entry/602768#0001">602768.0001</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 id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small">
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<div class="row">
|
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Spondylocostal dysostosis
|
|
- <a href="/phenotypicSeries/PS277300">PS277300</a>
|
|
- 6 Entries
|
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</h5>
|
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</div>
|
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<a href="/geneMap/6/678?start=-3&limit=10&highlight=678"> 6q14.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616566"> ?Spondylocostal dysostosis 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
|
|
<a href="/entry/616566"> 616566 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609891"> RIPPLY2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609891"> 609891 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/27?start=-3&limit=10&highlight=27"> 7p22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609813"> Spondylocostal dysostosis 3, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
|
|
<a href="/entry/609813"> 609813 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602576"> LFNG </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602576"> 602576 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/508?start=-3&limit=10&highlight=508"> 15q26.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608681"> Spondylocostal dysostosis 2, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
|
|
<a href="/entry/608681"> 608681 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605195"> MESP2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605195"> 605195 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/344?start=-3&limit=10&highlight=344"> 16p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/122600"> Spondylocostal dysostosis 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
|
|
<a href="/entry/122600"> 122600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602427"> TBX6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602427"> 602427 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/193?start=-3&limit=10&highlight=193"> 17p13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613686"> Spondylocostal dysostosis 4, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
|
|
<a href="/entry/613686"> 613686 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608059"> HES7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608059"> 608059 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/685?start=-3&limit=10&highlight=685"> 19q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/277300"> Spondylocostal dysostosis 1, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
|
|
<a href="/entry/277300"> 277300 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602768"> DLL3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602768"> 602768 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
|
|
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|
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<div>
|
|
<a id="text" class="mim-anchor"></a>
|
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|
|
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
|
|
<span class="mim-font">
|
|
<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.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
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<div id="mimTextFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because autosomal recessive spondylocostal dysostosis-1 (SCDO1) is caused by homozygous or compound heterozygous mutation in the DLL3 gene (<a href="/entry/602768">602768</a>) on chromosome 19q13.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
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</div>
|
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|
|
|
|
<div>
|
|
<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
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<p>The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number. The term 'spondylocostal dysostosis' is best applied to those phenotypes with generalized SDV and a broadly symmetric thoracic cage (summary by <a href="#18" class="mim-tip-reference" title="Gucev, Z. S., Tasic, V., Pop-Jordanova, N., Sparrow, D. B., Dunwoodie, S. L., Ellard, S., Young, E., Turnpenny, P. D. <strong>Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: negative mutation analysis of DLL3, MESP2, HES7, and LFNG.</strong> Am. J. Med. Genet. 152A: 1378-1382, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20503311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20503311</a>] [<a href="https://doi.org/10.1002/ajmg.a.33471" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20503311">Gucev et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20503311" 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><strong><em>Genetic Heterogeneity of Spondylocostal Dysostosis</em></strong></p><p>
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Other forms of SCDO include SCDO2 (<a href="/entry/608681">608681</a>), caused by mutation in the MESP2 gene (<a href="/entry/605195">605195</a>) on chromosome 15q26; SCDO3 (<a href="/entry/609813">609813</a>), caused by mutation in the LFNG gene (<a href="/entry/602576">602576</a>) on chromosome 7p22; SCDO4 (<a href="/entry/613686">613686</a>), caused by mutation in the HES7 gene (<a href="/entry/608059">608059</a>) on chromosome 17p13; SCDO5 (<a href="/entry/122600">122600</a>), caused by mutation in the TBX6 gene (<a href="/entry/602427">602427</a>) on chromosome 16p11; and SCDO6 (<a href="/entry/616566">616566</a>), caused by mutation in the RIPPLY2 gene (<a href="/entry/609891">609891</a>) on chromosome 6q14.</p>
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<p><a href="#22" class="mim-tip-reference" title="Lavy, N. W., Palmer, C. G., Merritt, A. D. <strong>A syndrome of bizarre vertebral anomalies.</strong> J. Pediat. 69: 1121-1125, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5953839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5953839</a>] [<a href="https://doi.org/10.1016/s0022-3476(66)80304-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5953839">Lavy et al. (1966)</a> observed 4 of 7 offspring of a third-cousin marriage who had characteristic vertebral anomalies including hemivertebrae and block vertebrae accompanied by deformity of the ribs. All affected children died of respiratory infection under 1 year of age. <a href="#25" class="mim-tip-reference" title="Moseley, J. E., Bonforte, R. J. <strong>Spondylothoracic dysplasia--a syndrome of congenital anomalies.</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 106: 166-169, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5769299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5769299</a>] [<a href="https://doi.org/10.2214/ajr.106.1.166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5769299">Moseley and Bonforte (1969)</a> described the same disorder in 2 apparently unrelated children of nonconsanguineous Puerto Rican parents. <a href="#6" class="mim-tip-reference" title="Caffey, J. P. <strong>Normal vertebral column. Pediatric X-ray Diagnosis. (5th ed.)</strong> Chicago: Year Book Med. Publ. (pub.) 1967. Pp. 1101-1108."None>Caffey (1967)</a> described brother and sister with short neck and trunk in contrast to extremities of normal length. Both showed 'hemivertebrae at practically all levels in the spine.' The skeletons were otherwise normal. <a href="#26" class="mim-tip-reference" title="Norum, R. A. <strong>Costovertebral anomalies with apparent recessive inheritance.</strong> Birth Defects Orig. Art. Ser. V(4): 326-329, 1969."None>Norum (1969)</a> observed 4 similar cases in 2 related sibships in an inbred community in eastern Kentucky. Fused ribs also occurred in affected persons. See <a href="/entry/122600">122600</a> for an autosomal dominant form of spondylocostal dysostosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5769299+5953839" 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="#12" class="mim-tip-reference" title="Eller, J. L., Morton, J. M. <strong>Bizarre deformities in offspring of user of lysergic acid diethylamide.</strong> New Eng. J. Med. 283: 395-397, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5429806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5429806</a>] [<a href="https://doi.org/10.1056/NEJM197008202830803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5429806">Eller and Morton (1970)</a> described similar deformity of the chest and spine, with additional craniolacunia, rachischisis, and urinary tract anomalies, in the offspring of a woman who admitted to a single exposure to LSD about the time of conception. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5429806" 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="Cantu, J. M., Urrusti, J., Rosales, G., Rojas, A. <strong>Evidence for autosomal recessive inheritance of costovertebral dysplasia.</strong> Clin. Genet. 2: 149-154, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5111758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5111758</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1971.tb00270.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5111758">Cantu et al. (1971)</a> described 5 cases in an inbred kindred. <a href="#9" class="mim-tip-reference" title="Castroviejo, I. P., Rodriguez-Costa, T., Castillo, F. <strong>Spondylo-thoracic dysplasia in three sisters.</strong> Dev. Med. Child Neurol. 15: 348-354, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4718686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4718686</a>] [<a href="https://doi.org/10.1111/j.1469-8749.1973.tb04891.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4718686">Castroviejo et al. (1973)</a> reported spondylothoracic dysplasia in 3 Spanish sisters who showed the typically short thorax, short neck with limited mobility, winged scapulae, and scoliosis or kyphoscoliosis. Particularly noteworthy were the vertebral anomalies, including hemivertebrae and vertebral fusions affecting the whole vertebral column. Rib abnormalities in form and number were seen. One sister showed decreased mental function and another showed incompletely formed odontoid process. <a href="#3" class="mim-tip-reference" title="Bartsocas, C. S., Kiossoglou, K. A., Papas, C. V., Xanthou-Tsingoglou, M., Anagnostakis, D. E., Daskalopoulou, H. D. <strong>Costovertebral dysplasia.</strong> Birth Defects Orig. Art. Ser. X(9): 221-226, 1974."None>Bartsocas et al. (1974)</a> described 3 affected sibs (2 of them identical twin sisters). <a href="#30" class="mim-tip-reference" title="Satar, M., Kozanoglu, M. N., Atilla, E. <strong>Identical twins with an autosomal recessive form of spondylocostal dysostosis.</strong> Clin. Genet. 41: 290-292, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1623623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1623623</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03399.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1623623">Satar et al. (1992)</a> described this disorder in identical twins whose parents were first cousins. <a href="#38" class="mim-tip-reference" title="Van Thienen, M.-N., Van der Auwera, B. J. <strong>Monozygotic twins discordant for spondylocostal dysostosis.</strong> Am. J. Med. Genet. 52: 483-486, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7747763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7747763</a>] [<a href="https://doi.org/10.1002/ajmg.1320520416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7747763">Van Thienen and Van der Auwera (1994)</a> described monozygotic twins discordant for this syndrome, either due to a postzygotic mutation or to a phenocopy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7747763+4718686+1623623+5111758" 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="#20" class="mim-tip-reference" title="Jarcho, S., Levin, P. M. <strong>Hereditary malformation of the vertebral bodies.</strong> Bull. Johns Hopkins Hosp. 62: 216-226, 1938."None>Jarcho and Levin (1938)</a> are credited with first describing this syndrome, in a black brother and sister in Baltimore, but they mistakenly spoke of the condition as the same as the Klippel-Feil syndrome (<a href="/entry/118100">118100</a>). <a href="#27" class="mim-tip-reference" title="Perez-Comas, A., Garcia-Castro, J. M. <strong>Occipito-facial-cervico-thoracic-abdomino-digital dysplasia; Jarcho-Levin syndrome of vertebral anomalies: report of six cases and review of the literature.</strong> J. Pediat. 85: 388-391, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4372555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4372555</a>] [<a href="https://doi.org/10.1016/s0022-3476(74)80126-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4372555">Perez-Comas and Garcia-Castro (1974)</a> described 6 cases in Puerto Ricans, including 2 affected sibs. Their designation, occipito-facial-cervico-thoracic-abdomino-digital dysplasia, seems in the first place ridiculously long, but really unwarranted since all changes seem to be secondary or tertiary to the primary changes in the spine. Several authors refer to a typical 'crab-like' radiologic appearance of the thoracic skeleton. Conceivably the early lethal form represented by the cases of <a href="#20" class="mim-tip-reference" title="Jarcho, S., Levin, P. M. <strong>Hereditary malformation of the vertebral bodies.</strong> Bull. Johns Hopkins Hosp. 62: 216-226, 1938."None>Jarcho and Levin (1938)</a> and the cases with survival to a later age, e.g., the cases of <a href="#26" class="mim-tip-reference" title="Norum, R. A. <strong>Costovertebral anomalies with apparent recessive inheritance.</strong> Birth Defects Orig. Art. Ser. V(4): 326-329, 1969."None>Norum (1969)</a> and <a href="#7" class="mim-tip-reference" title="Cantu, J. M., Urrusti, J., Rosales, G., Rojas, A. <strong>Evidence for autosomal recessive inheritance of costovertebral dysplasia.</strong> Clin. Genet. 2: 149-154, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5111758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5111758</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1971.tb00270.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5111758">Cantu et al. (1971)</a> are produced by homozygosity for alleles at the same locus. <a href="#11" class="mim-tip-reference" title="Devos, E. A., Leroy, J. G., Braeckman, J. J., Buloke, L. J., Langer, L. O., Jr. <strong>Spondylocostal dysostosis and urinary tract anomaly: definition and review of an entity.</strong> Europ. J. Pediat. 128: 7-15, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/668719/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">668719</a>] [<a href="https://doi.org/10.1007/BF00496921" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="668719">Devos et al. (1978)</a> described associated abnormalities of ureters and renal pelvis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4372555+668719+5111758" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Gassner, M. <strong>Kostovertebrale Dysplasie: ein Rezeptordefekt der Sklerotomentwicklung?</strong> Schweiz. Med. Wschr. 112: 791-797, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7100875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7100875</a>]" pmid="7100875">Gassner (1982)</a> described 8 affected persons in 4 interrelated families. One also had Down syndrome and died at the age of 7 days. The others showed no decrease in life expectancy and no other malformations. Autosomal recessive inheritance was well documented. <a href="#42" class="mim-tip-reference" title="Young, I. D., Moore, J. R. <strong>Spondylocostal dysostosis.</strong> J. Med. Genet. 21: 68-69, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6694190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6694190</a>] [<a href="https://doi.org/10.1136/jmg.21.1.68" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6694190">Young and Moore (1984)</a> reported a case in a child of first-cousin parents. They claimed it to be the first report of the condition in the United Kingdom. <a href="#8" class="mim-tip-reference" title="Cassidy, S. B., Herson, V., Tibbets, J. <strong>Natural history of Jarcho-Levin syndrome (spondylothoracic dysplasia). (Abstract)</strong> Proc. Greenwood Genet. Center 3: 92-94, 1984."None>Cassidy et al. (1984)</a> reported observations on a Puerto Rican child living in Connecticut. <a href="#17" class="mim-tip-reference" title="Giacoia, G. P., Say, B. <strong>Spondylocostal dysplasia and neural tube defects.</strong> J. Med. Genet. 28: 51-53, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1999834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1999834</a>] [<a href="https://doi.org/10.1136/jmg.28.1.51" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1999834">Giacoia and Say (1991)</a> found diastematomyelia, spina bifida, and open meningocele in an American Indian infant with the features of the Jarcho-Levin syndrome. <a href="#36" class="mim-tip-reference" title="Turnpenny, P. D., Thwaites, R. J., Boulos, F. N. <strong>Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis.</strong> J. Med. Genet. 28: 27-33, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1999829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1999829</a>] [<a href="https://doi.org/10.1136/jmg.28.1.27" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1999829">Turnpenny et al. (1991)</a> indicated the wide variability in 7 affected members of an inbred Israeli-Arab family. <a href="#29" class="mim-tip-reference" title="Romeo, M. G., Distefano, G., Di Bella, D., Mangiagli, A., Caltabiano, L., Roccaro, S., Mollica, F. <strong>Familial Jarcho-Levin syndrome.</strong> Clin. Genet. 39: 253-259, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2070546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2070546</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1991.tb03023.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2070546">Romeo et al. (1991)</a> reported 2 affected brothers and 2 affected sisters related to each other as first cousins once removed. <a href="#21" class="mim-tip-reference" title="Karnes, P. S., Day, D., Berry, S. A., Pierpont, M. E. M. <strong>Jarcho-Levin syndrome: four new cases and classification of subtypes.</strong> Am. J. Med. Genet. 40: 264-270, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1951427/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1951427</a>] [<a href="https://doi.org/10.1002/ajmg.1320400304" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1951427">Karnes et al. (1991)</a> reported 4 new cases. They supported the classification of <a href="#31" class="mim-tip-reference" title="Solomon, L., Jimenez, R. B., Reiner, L. <strong>Spondylothoracic dysostosis: report of 2 cases and review of the literature.</strong> Arch. Path. Lab. Med. 102: 201-205, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/350188/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">350188</a>]" pmid="350188">Solomon et al. (1978)</a> into 2 subtypes: spondylocostal dysostosis and spondylothoracic dysostosis. <a href="#23" class="mim-tip-reference" title="McCall, C. P., Hudgins, L., Cloutier, M., Greenstein, R. M., Cassidy, S. B. <strong>Jarcho-Levin syndrome: unusual survival in a classical case.</strong> Am. J. Med. Genet. 49: 328-332, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8209895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8209895</a>] [<a href="https://doi.org/10.1002/ajmg.1320490317" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8209895">McCall et al. (1994)</a> described the case of a Puerto Rican child with unusually long survival to age 11 years. <a href="#1" class="mim-tip-reference" title="Aurora, P., Wallis, C. E., Winter, R. M. <strong>The Jarcho-Levin syndrome (spondylocostal dysplasia) and complex congenital heart disease: a case report.</strong> Clin. Dysmorph. 5: 165-169, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8723567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8723567</a>] [<a href="https://doi.org/10.1097/00019605-199604000-00009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8723567">Aurora et al. (1996)</a> reported a newborn with characteristic features of Jarcho-Levin syndrome in addition to complex congenital heart disease (situs solitus, double outlet right ventricle, atrial septal defect) and hypospadias. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6694190+8723567+1999834+8209895+2070546+350188+1999829+7100875+1951427" 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="#24" class="mim-tip-reference" title="Mortier, G. R., Lachman, R. S., Bocian, M., Rimoin, D. L. <strong>Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature.</strong> Am. J. Med. Genet. 61: 310-319, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8834041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8834041</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960202)61:4<310::AID-AJMG3>3.0.CO;2-Y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8834041">Mortier et al. (1996)</a> analyzed 26 new patients with multiple vertebral segmentation defects and reviewed 115 previously reported cases. They recognized 3 distinct entities based on radiographic and clinical findings: Jarcho-Levin syndrome, a lethal autosomal recessive form, characterized by a symmetric crab-chest; spondylocostal dysostosis (<a href="/entry/122600">122600</a>), a benign autosomal dominant condition; and spondylothoracic dysostosis, which shows considerable clinical and radiographic overlap with spondylocostal dysostosis and has an autosomal recessive mode of inheritance. The authors noted that intrafamilial variability is striking (<a href="#7" class="mim-tip-reference" title="Cantu, J. M., Urrusti, J., Rosales, G., Rojas, A. <strong>Evidence for autosomal recessive inheritance of costovertebral dysplasia.</strong> Clin. Genet. 2: 149-154, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5111758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5111758</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1971.tb00270.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5111758">Cantu et al., 1971</a>; <a href="#14" class="mim-tip-reference" title="Franceschini, P., Grassi, E., Fabris, C., Bogetti, G., Randaccio, M. <strong>The autosomal recessive form of spondylocostal dysostosis.</strong> Radiology 112: 673-676, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4843303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4843303</a>] [<a href="https://doi.org/10.1148/112.3.673" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4843303">Franceschini et al., 1974</a>; <a href="#34" class="mim-tip-reference" title="Trindade, C. E. P., de Nobrega, F. J. <strong>Spondylothoracic dysplasia in two siblings: a short neck and trunk due to vertebral body abnormalities along with abnormal ribs should suggest this rare syndrome.</strong> Clin. Pediat. 16: 1097-1099, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/589884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">589884</a>] [<a href="https://doi.org/10.1177/000992287701601204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="589884">Trindade and de Nobrega, 1977</a>; <a href="#36" class="mim-tip-reference" title="Turnpenny, P. D., Thwaites, R. J., Boulos, F. N. <strong>Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis.</strong> J. Med. Genet. 28: 27-33, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1999829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1999829</a>] [<a href="https://doi.org/10.1136/jmg.28.1.27" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1999829">Turnpenny et al., 1991</a>); affected individuals either die in infancy of respiratory failure or survive into adulthood with minimal symptoms. Associated anomalies are not common and are only observed in lethal cases. <a href="#24" class="mim-tip-reference" title="Mortier, G. R., Lachman, R. S., Bocian, M., Rimoin, D. L. <strong>Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature.</strong> Am. J. Med. Genet. 61: 310-319, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8834041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8834041</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960202)61:4<310::AID-AJMG3>3.0.CO;2-Y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8834041">Mortier et al. (1996)</a> stated that sporadic cases of vertebral segmentation defects are difficult to classify as to etiology, genetic versus nongenetic, and concluded that they probably represent a heterogeneous group. Associated anomalies are more common in this group than in the familial types and may involve both mesodermally and ectodermally derived structures. <a href="#24" class="mim-tip-reference" title="Mortier, G. R., Lachman, R. S., Bocian, M., Rimoin, D. L. <strong>Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature.</strong> Am. J. Med. Genet. 61: 310-319, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8834041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8834041</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960202)61:4<310::AID-AJMG3>3.0.CO;2-Y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8834041">Mortier et al. (1996)</a> also concluded that the body segment in which the nonvertebral malformations occur corresponds to the site of the vertebral segmentation defects. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1999829+589884+8834041+4843303+5111758" 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="Bannykh, S. I., Emery, S. C., Gerber, J.-K., Jones, K. L., Benirschke, K., Masliah, E. <strong>Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review.</strong> Am. J. Med. Genet. 120A: 241-246, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12833407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12833407</a>] [<a href="https://doi.org/10.1002/ajmg.a.20192" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12833407">Bannykh et al. (2003)</a> reported 2 affected Caucasian sibs and provided a review of the Jarcho-Levin syndrome and related disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12833407" 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>Because vertebral development is controlled by a limited number of master genes including PAX1 (<a href="/entry/167411">167411</a>) and PAX9 (<a href="/entry/167416">167416</a>), <a href="#2" class="mim-tip-reference" title="Bannykh, S. I., Emery, S. C., Gerber, J.-K., Jones, K. L., Benirschke, K., Masliah, E. <strong>Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review.</strong> Am. J. Med. Genet. 120A: 241-246, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12833407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12833407</a>] [<a href="https://doi.org/10.1002/ajmg.a.20192" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12833407">Bannykh et al. (2003)</a> analyzed protein expression from these genes in 2 sibs with Jarcho-Levin syndrome and in age-matched controls. Immunochemical analysis showed a significant reduction in levels of protein expression on chondrocytes of the vertebral column. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12833407" 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="#35" class="mim-tip-reference" title="Turnpenny, P. D., Bulman, M. P., Frayling, T. M., Abu-Nasra, T. K., Garrett, C., Hattersley, A. T., Ellard, S. <strong>A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.</strong> Am. J. Hum. Genet. 65: 175-182, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364530/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364530</a>] [<a href="https://doi.org/10.1086/302464" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10364530">Turnpenny et al. (1999)</a> performed genomewide scanning by homozygosity mapping in a large consanguineous Arab-Israeli family in which there were 6 definite cases of autosomal recessive spondylocostal dysostosis. Significant linkage was found to 19q13, with a lod score of 6.9. This was confirmed in a second Pakistani family with 3 affected members, with a lod score of 2.4. The combined haplotype data identified a critical region between D19S570 and D19S908, an interval of 8.5 cM on 19q13.1-q13.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10364530" 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>Using homology of synteny and linkage data suggesting that the SCDO1 locus is on chromosome 19q13.1-q13.3 and that a mouse region containing the Notch ligand delta-like-3 gene is mutated in the x-ray-induced mouse mutant 'pudgy,' causing a variety of vertebral costal defects similar to the SCDO1 phenotype, <a href="#5" class="mim-tip-reference" title="Bulman, M. P., Kusumi, K., Frayling, T. M., McKeown, C., Garrett, C., Lander, E. S., Krumlauf, R., Hattersley, A. T., Ellard, S., Turnpenny, P. D. <strong>Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.</strong> Nature Genet. 24: 438-441, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10742114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10742114</a>] [<a href="https://doi.org/10.1038/74307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10742114">Bulman et al. (2000)</a> cloned and sequenced human DLL3 to evaluate it as a candidate gene for SCDO1. They identified mutations in 3 autosomal recessive SCDO1 families. Two of the mutations (<a href="/entry/602768#0001">602768.0001</a> and <a href="/entry/602768#0002">602768.0002</a>) predicted truncations within conserved extracellular domains; the third (<a href="/entry/602768#0003">602768.0003</a>) was a missense mutation in a highly conserved glycine residue of the fifth epidermal growth factor repeat, which revealed an important functional role for this domain. These were the first mutations in a human delta homolog, thus highlighting the critical role of the Notch signaling pathway and its components in patterning the mammalian axial skeleton. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10742114" 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="#37" class="mim-tip-reference" title="Turnpenny, P. D., Whittock, N., Duncan, J., Dunwoodie, S., Kusumi, K., Ellard, S. <strong>Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.</strong> J. Med. Genet. 40: 333-339, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12746394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12746394</a>] [<a href="https://doi.org/10.1136/jmg.40.5.333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12746394">Turnpenny et al. (2003)</a> sequenced the DLL3 gene in a series of spondylocostal dysostosis patients from 14 families and identified 12 mutations, 2 of which occurred twice. The patients represented diverse ethnic backgrounds and 6 came from traditionally consanguineous communities. In all affected individuals, the radiologic phenotype was abnormal segmentation throughout the entire vertebral column with smooth outlines to the vertebral bodies in childhood, for which <a href="#37" class="mim-tip-reference" title="Turnpenny, P. D., Whittock, N., Duncan, J., Dunwoodie, S., Kusumi, K., Ellard, S. <strong>Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.</strong> J. Med. Genet. 40: 333-339, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12746394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12746394</a>] [<a href="https://doi.org/10.1136/jmg.40.5.333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12746394">Turnpenny et al. (2003)</a> suggested the term 'pebble beach sign.' This appeared to be a very consistent phenotype-genotype correlation. <a href="#37" class="mim-tip-reference" title="Turnpenny, P. D., Whittock, N., Duncan, J., Dunwoodie, S., Kusumi, K., Ellard, S. <strong>Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.</strong> J. Med. Genet. 40: 333-339, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12746394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12746394</a>] [<a href="https://doi.org/10.1136/jmg.40.5.333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12746394">Turnpenny et al. (2003)</a> suggested the designation SCD type 1 for the autosomal recessive form caused by mutation in the DLL3 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12746394" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Day, R., Fryer, A. <strong>Diaphragmatic hernia and preaxial polydactyly in spondylothoracic dysplasia. (Letter)</strong> Clin. Dysmorph. 12: 277-278, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14564219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14564219</a>] [<a href="https://doi.org/10.1097/00019605-200310000-00014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14564219">Day and Fryer (2003)</a> reported 2 pregnancies in 1 family in which diaphragmatic hernia and preaxial polydactyly accompanied spondylothoracic dysplasia. The first pregnancy was monozygous male twins and the second was a female sib. The pregnancies were terminated. The authors suggested that spondylothoracic dysplasia and spondylocostal dysostosis may be allelic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14564219" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a family with spondylocostal dysostosis, previously reported by <a href="#13" class="mim-tip-reference" title="Floor, E., De Jong, R. O., Fryns, J. P., Smulders, C., Vles, J. S. H. <strong>Spondylocostal dysostosis: an example of autosomal dominant transmission in a large family.</strong> Clin. Genet. 36: 236-241, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2805381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2805381</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1989.tb03196.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2805381">Floor et al. (1989)</a> and believed to represent autosomal dominant inheritance, <a href="#40" class="mim-tip-reference" title="Whittock, N. V., Ellard, S., Duncan, J., de Die-Smulders, C. E. M., Vles, J. S. H., Turnpenny, P. D. <strong>Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations.</strong> Clin. Genet. 66: 67-72, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15200511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15200511</a>] [<a href="https://doi.org/10.1111/j.0009-9163.2004.00272.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15200511">Whittock et al. (2004)</a> performed haplotype analysis which suggested pseudodominant transmission with segregation of 2 distinct disease alleles. Direct sequencing of the DLL3 gene revealed that the affected father was homozygous and all 4 sibs were heterozygous for a 1440delG mutation (<a href="/entry/602768#0007">602768.0007</a>), whereas the unaffected mother and 2 affected sibs were heterozygous for a G504D substitution (<a href="/entry/602768#0008">602768.0008</a>), thus confirming autosomal recessive inheritance in all affected members of the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15200511+2805381" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a family segregating autosomal recessive spondylocostal dysplasia, <a href="#19" class="mim-tip-reference" title="Iughetti, P., Alonso, L. G., Wilcox, W., Alonso, N., Passos-Bueno, M. R. <strong>Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia.</strong> Am. J. Med. Genet. 95: 482-491, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11146471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11146471</a>] [<a href="https://doi.org/10.1002/1096-8628(20001218)95:5<482::aid-ajmg14>3.0.co;2-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11146471">Iughetti et al. (2000)</a> could find no evidence of linkage to 19q, indicating genetic heterogeneity in this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11146471" 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="#41" class="mim-tip-reference" title="Whittock, N. V., Sparrow, D. B., Wouters, M. A., Sillence, D., Ellard, S., Dunwoodie, S. L., Turnpenny, P. D. <strong>Mutated MESP2 causes spondylocostal dysostosis in humans.</strong> Am. J. Hum. Genet. 74: 1249-1254, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15122512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15122512</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15122512[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/421053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15122512">Whittock et al. (2004)</a> demonstrated a mutation in the basic helix-loop-helix transcription factor gene, MESP2 (<a href="/entry/605195">605195</a>), in a consanguineous family with 2 children affected by spondylocostal dysostosis (SCDO2; <a href="/entry/608681">608681</a>). The phenotype was milder than that of DLL3 mutation-positive spondylocostal dysostosis, and not all vertebrae were affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15122512" 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>Both the DLL3 and MESP2 genes are important components of the Notch signaling pathway, which has multiple roles in development and disease. <a href="#32" class="mim-tip-reference" title="Sparrow, D. B., Chapman, G., Wouters, M. A., Whittock, N. V., Ellard, S., Fatkin, D., Turnpenny, P. D., Kusumi, K., Sillence, D., Dunwoodie, S. L. <strong>Mutation of the lunatic fringe gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype.</strong> Am. J. Hum. Genet. 78: 28-37, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16385447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16385447</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16385447[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/498879" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16385447">Sparrow et al. (2006)</a> used a candidate-gene approach to identify mutation in a third Notch pathway gene, lunatic fringe (LFNG; <a href="/entry/602576#0001">602576.0001</a>), in a family with autosomal recessive spondylocostal dysostosis (SCDO3; <a href="/entry/609813">609813</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16385447" 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 5 children with short stature and congenital scoliosis from 4 Taiwanese Han Chinese families, <a href="#39" class="mim-tip-reference" title="Wang, C.-H., Lin, W.-D., Bau, D.-T, Chou, I.-C., Tsai, F.-J. <strong>Genetic and clinical profiles of spondylocostal dysostosis patients in Taiwan.</strong> Am. J. Med. Genet. 155A: 3132-3135, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22052723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22052723</a>] [<a href="https://doi.org/10.1002/ajmg.a.34301" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22052723">Wang et al. (2011)</a> analyzed the DLL3, MESP2, LFNG, and HES7 genes but identified no causative mutations. Apart from abnormal vertebral segmentation defects, the children had no other systemic anomalies, and all achieved normal developmental milestones. Two sisters whose parents were descendants of the same minor aboriginal tribe in Taiwan showed marked phenotypic similarity, including decreased size of vertebral bodies, hypoplasia of disc spaces throughout the thoracic spine, thoracic scoliosis, and block lumbar vertebrae. The other 3 unrelated patients displayed varying degrees of block vertebrae and hemivertebrae in the thoracic spine, with asymmetric fusion, bifid ribs, and butterfly vertebrae. Noting that none of their patients completely fulfilled the criteria for the strictest definition of SCD, which requires contiguous involvement of at least 10 spinal segments and aberrant rib alignment, with some asymmetry in rib alignment and irregular points of rib fusions, but basic overall symmetry in the shape of the thorax, <a href="#39" class="mim-tip-reference" title="Wang, C.-H., Lin, W.-D., Bau, D.-T, Chou, I.-C., Tsai, F.-J. <strong>Genetic and clinical profiles of spondylocostal dysostosis patients in Taiwan.</strong> Am. J. Med. Genet. 155A: 3132-3135, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22052723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22052723</a>] [<a href="https://doi.org/10.1002/ajmg.a.34301" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22052723">Wang et al. (2011)</a> suggested that these patients might represent a subtype of SCD occurring in the Taiwanese population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22052723" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The terms dysostosis and dysplasia are used here interchangeably. Both words refer to abnormal development or formation. A distinction between the 2 terms has some usefulness, however. The dysostoses, in the usage and interpretation of <a href="#33" class="mim-tip-reference" title="Spranger, J. <strong>Personal Communication.</strong> Mainz, Germany 4/17/1997."None>Spranger (1997)</a>, referred to disorders due to defects in genes that are active predominantly in early stages of development and only at that stage are likely to result in the 'frozen' type of malformation. On the other hand, defects in genes that are active later in development or in extrauterine life cause dysplasia. Some disorders, such as fibrodysplasia ossificans progressiva (<a href="/entry/135100">135100</a>), show characteristics of a malformation (dysostosis) in the malformation of the thumbs and toes and characteristics of a dysplasia in the form of the ectopic ossification which develops in the first decade of life.</p>
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<a href="#Beighton1981" class="mim-tip-reference" title="Beighton, P., Horan, F. T. <strong>Spondylocostal dysostosis in South African sisters.</strong> Clin. Genet. 19: 23-25, 1981.">Beighton and Horan (1981)</a>; <a href="#Gellis1976" class="mim-tip-reference" title="Gellis, S. S., Feingold, M. <strong>Spondylothoracic dysplasia, costovertebral dysplasia, Jarcho-Levin syndrome.</strong> Am. J. Dis. Child. 130: 513-514, 1976.">Gellis and Feingold (1976)</a>; <a href="#Pfeiffer1983" class="mim-tip-reference" title="Pfeiffer, R. A., Hansen, H. G., Bowing, B., Tietze, U. <strong>Die Spondylocostale Dysostose: Bericht ueber 5 Beobachtungen einschlieblich Geschwister und einen atypischen Fall.</strong> Mschr. Kinderheilk. 131: 28-34, 1983.">Pfeiffer et
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Aurora, P., Wallis, C. E., Winter, R. M.
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<strong>The Jarcho-Levin syndrome (spondylocostal dysplasia) and complex congenital heart disease: a case report.</strong>
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Clin. Dysmorph. 5: 165-169, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8723567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8723567</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8723567" 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/10.1097/00019605-199604000-00009" target="_blank">Full Text</a>]
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Bannykh, S. I., Emery, S. C., Gerber, J.-K., Jones, K. L., Benirschke, K., Masliah, E.
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<strong>Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review.</strong>
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Am. J. Med. Genet. 120A: 241-246, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12833407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12833407</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12833407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20192" target="_blank">Full Text</a>]
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Bartsocas, C. S., Kiossoglou, K. A., Papas, C. V., Xanthou-Tsingoglou, M., Anagnostakis, D. E., Daskalopoulou, H. D.
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<strong>Costovertebral dysplasia.</strong>
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Birth Defects Orig. Art. Ser. X(9): 221-226, 1974.
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<strong>Spondylocostal dysostosis in South African sisters.</strong>
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Clin. Genet. 19: 23-25, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7460377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7460377</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7460377" 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.1399-0004.1981.tb00662.x" target="_blank">Full Text</a>]
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Bulman, M. P., Kusumi, K., Frayling, T. M., McKeown, C., Garrett, C., Lander, E. S., Krumlauf, R., Hattersley, A. T., Ellard, S., Turnpenny, P. D.
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<strong>Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.</strong>
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Nature Genet. 24: 438-441, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10742114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10742114</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10742114" 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/10.1038/74307" target="_blank">Full Text</a>]
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Caffey, J. P.
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<strong>Normal vertebral column. Pediatric X-ray Diagnosis. (5th ed.)</strong>
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Chicago: Year Book Med. Publ. (pub.) 1967. Pp. 1101-1108.
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Cantu, J. M., Urrusti, J., Rosales, G., Rojas, A.
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<strong>Evidence for autosomal recessive inheritance of costovertebral dysplasia.</strong>
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Clin. Genet. 2: 149-154, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5111758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5111758</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5111758" 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.1399-0004.1971.tb00270.x" target="_blank">Full Text</a>]
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Cassidy, S. B., Herson, V., Tibbets, J.
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<strong>Natural history of Jarcho-Levin syndrome (spondylothoracic dysplasia). (Abstract)</strong>
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Proc. Greenwood Genet. Center 3: 92-94, 1984.
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Castroviejo, I. P., Rodriguez-Costa, T., Castillo, F.
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<strong>Spondylo-thoracic dysplasia in three sisters.</strong>
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Dev. Med. Child Neurol. 15: 348-354, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4718686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4718686</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4718686" 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.1469-8749.1973.tb04891.x" target="_blank">Full Text</a>]
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Day, R., Fryer, A.
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<strong>Diaphragmatic hernia and preaxial polydactyly in spondylothoracic dysplasia. (Letter)</strong>
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Clin. Dysmorph. 12: 277-278, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14564219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14564219</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14564219" 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/10.1097/00019605-200310000-00014" target="_blank">Full Text</a>]
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Devos, E. A., Leroy, J. G., Braeckman, J. J., Buloke, L. J., Langer, L. O., Jr.
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<strong>Spondylocostal dysostosis and urinary tract anomaly: definition and review of an entity.</strong>
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Europ. J. Pediat. 128: 7-15, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/668719/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">668719</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=668719" 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/BF00496921" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM197008202830803" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1989.tb03196.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1148/112.3.673" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.28.1.51" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.33471" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/1096-8628(20001218)95:5<482::aid-ajmg14>3.0.co;2-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(66)80304-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320490317" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1096-8628(19960202)61:4<310::AID-AJMG3>3.0.CO;2-Y" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(74)80126-5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1991.tb03023.x" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1623623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1623623</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1623623" 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.1399-0004.1992.tb03399.x" target="_blank">Full Text</a>]
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<a id="Solomon1978" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Solomon, L., Jimenez, R. B., Reiner, L.
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<strong>Spondylothoracic dysostosis: report of 2 cases and review of the literature.</strong>
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Sparrow, D. B., Chapman, G., Wouters, M. A., Whittock, N. V., Ellard, S., Fatkin, D., Turnpenny, P. D., Kusumi, K., Sillence, D., Dunwoodie, S. L.
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<strong>Mutation of the lunatic fringe gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16385447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16385447</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16385447[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16385447" 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/10.1086/498879" target="_blank">Full Text</a>]
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<strong>Personal Communication.</strong>
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Mainz, Germany 4/17/1997.
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<a id="Trindade1977" class="mim-anchor"></a>
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Trindade, C. E. P., de Nobrega, F. J.
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<strong>Spondylothoracic dysplasia in two siblings: a short neck and trunk due to vertebral body abnormalities along with abnormal ribs should suggest this rare syndrome.</strong>
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Clin. Pediat. 16: 1097-1099, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/589884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">589884</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=589884" 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/10.1177/000992287701601204" target="_blank">Full Text</a>]
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<a id="Turnpenny1999" class="mim-anchor"></a>
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Turnpenny, P. D., Bulman, M. P., Frayling, T. M., Abu-Nasra, T. K., Garrett, C., Hattersley, A. T., Ellard, S.
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<strong>A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.</strong>
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Am. J. Hum. Genet. 65: 175-182, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364530/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364530</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10364530" 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/10.1086/302464" target="_blank">Full Text</a>]
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<a id="Turnpenny1991" class="mim-anchor"></a>
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Turnpenny, P. D., Thwaites, R. J., Boulos, F. N.
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<strong>Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1999829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1999829</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1999829" 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.28.1.27" target="_blank">Full Text</a>]
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Turnpenny, P. D., Whittock, N., Duncan, J., Dunwoodie, S., Kusumi, K., Ellard, S.
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<strong>Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.</strong>
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J. Med. Genet. 40: 333-339, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12746394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12746394</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12746394" 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.40.5.333" target="_blank">Full Text</a>]
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Van Thienen, M.-N., Van der Auwera, B. J.
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<strong>Monozygotic twins discordant for spondylocostal dysostosis.</strong>
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Am. J. Med. Genet. 52: 483-486, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7747763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7747763</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7747763" 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.1320520416" target="_blank">Full Text</a>]
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Wang, C.-H., Lin, W.-D., Bau, D.-T, Chou, I.-C., Tsai, F.-J.
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<strong>Genetic and clinical profiles of spondylocostal dysostosis patients in Taiwan.</strong>
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Am. J. Med. Genet. 155A: 3132-3135, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22052723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22052723</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22052723" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.34301" target="_blank">Full Text</a>]
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Whittock, N. V., Ellard, S., Duncan, J., de Die-Smulders, C. E. M., Vles, J. S. H., Turnpenny, P. D.
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<strong>Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations.</strong>
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Clin. Genet. 66: 67-72, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15200511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15200511</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15200511" 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.0009-9163.2004.00272.x" target="_blank">Full Text</a>]
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Whittock, N. V., Sparrow, D. B., Wouters, M. A., Sillence, D., Ellard, S., Dunwoodie, S. L., Turnpenny, P. D.
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<strong>Mutated MESP2 causes spondylocostal dysostosis in humans.</strong>
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Am. J. Hum. Genet. 74: 1249-1254, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15122512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15122512</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15122512[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15122512" 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/10.1086/421053" target="_blank">Full Text</a>]
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Young, I. D., Moore, J. R.
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<strong>Spondylocostal dysostosis.</strong>
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J. Med. Genet. 21: 68-69, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6694190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6694190</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6694190" 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.21.1.68" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 9/25/2015
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Marla J. F. O'Neill - updated : 1/10/2011<br>Marla J. F. O'Neill - updated : 12/27/2010<br>Victor A. McKusick - updated : 12/29/2005<br>Marla J. F. O'Neill - updated : 8/4/2005<br>Victor A. McKusick - updated : 1/12/2005<br>Marla J. F. O'Neill - updated : 7/20/2004<br>Victor A. McKusick - updated : 5/20/2004<br>Siobhan M. Dolan - updated : 2/19/2004<br>Victor A. McKusick - updated : 11/6/2003<br>Victor A. McKusick - updated : 12/19/2000<br>Ada Hamosh - updated : 3/29/2000<br>Victor A. McKusick - updated : 6/28/1999<br>Victor A. McKusick - updated : 6/2/1997<br>Iosif W. Lurie - updated : 7/21/1996
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Victor A. McKusick : 6/4/1986
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carol : 04/22/2022
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carol : 03/10/2022<br>carol : 10/03/2016<br>carol : 07/07/2016<br>carol : 9/25/2015<br>carol : 9/22/2015<br>alopez : 3/26/2015<br>carol : 3/23/2015<br>mcolton : 3/4/2015<br>carol : 9/11/2014<br>carol : 9/19/2013<br>carol : 1/10/2011<br>carol : 1/5/2011<br>wwang : 12/28/2010<br>terry : 12/27/2010<br>carol : 10/26/2009<br>wwang : 9/15/2009<br>alopez : 12/5/2008<br>wwang : 9/16/2008<br>ckniffin : 9/11/2008<br>carol : 6/13/2008<br>alopez : 12/30/2005<br>alopez : 12/30/2005<br>terry : 12/29/2005<br>wwang : 8/5/2005<br>terry : 8/4/2005<br>alopez : 1/26/2005<br>terry : 1/12/2005<br>carol : 8/26/2004<br>carol : 7/21/2004<br>terry : 7/20/2004<br>alopez : 5/21/2004<br>terry : 5/20/2004<br>tkritzer : 2/19/2004<br>terry : 2/19/2004<br>tkritzer : 11/11/2003<br>terry : 11/6/2003<br>cwells : 7/31/2003<br>carol : 12/19/2000<br>terry : 12/19/2000<br>alopez : 3/30/2000<br>carol : 3/29/2000<br>carol : 7/9/1999<br>carol : 7/9/1999<br>jlewis : 7/7/1999<br>terry : 6/28/1999<br>mark : 6/2/1997<br>terry : 5/28/1997<br>carol : 7/21/1996<br>terry : 4/5/1996<br>mark : 2/26/1996<br>mark : 2/26/1996<br>terry : 2/20/1996<br>terry : 5/25/1995<br>davew : 8/17/1994<br>carol : 6/1/1994<br>mimadm : 4/18/1994<br>warfield : 3/10/1994<br>carol : 7/15/1992
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<span class="mim-font">
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<strong>#</strong> 277300
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<h3>
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SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE; SCDO1
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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VERTEBRAL ANOMALIES<br />
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JARCHO-LEVIN SYNDROME<br />
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SPONDYLOTHORACIC DYSPLASIA<br />
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COSTOVERTEBRAL DYSPLASIA<br />
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SPONDYLOTHORACIC DYSOSTOSIS
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<strong>SNOMEDCT:</strong> 61367005;
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<strong>ORPHA:</strong> 2311;
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<strong>DO:</strong> 0112365;
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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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<th>
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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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19q13.2
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<span class="mim-font">
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Spondylocostal dysostosis 1, autosomal recessive
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<span class="mim-font">
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277300
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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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DLL3
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<span class="mim-font">
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602768
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</table>
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<span class="mim-font">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because autosomal recessive spondylocostal dysostosis-1 (SCDO1) is caused by homozygous or compound heterozygous mutation in the DLL3 gene (602768) on chromosome 19q13.</p>
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<strong>Description</strong>
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<p>The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number. The term 'spondylocostal dysostosis' is best applied to those phenotypes with generalized SDV and a broadly symmetric thoracic cage (summary by Gucev et al., 2010). </p><p><strong><em>Genetic Heterogeneity of Spondylocostal Dysostosis</em></strong></p><p>
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Other forms of SCDO include SCDO2 (608681), caused by mutation in the MESP2 gene (605195) on chromosome 15q26; SCDO3 (609813), caused by mutation in the LFNG gene (602576) on chromosome 7p22; SCDO4 (613686), caused by mutation in the HES7 gene (608059) on chromosome 17p13; SCDO5 (122600), caused by mutation in the TBX6 gene (602427) on chromosome 16p11; and SCDO6 (616566), caused by mutation in the RIPPLY2 gene (609891) on chromosome 6q14.</p>
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<h4>
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<strong>Clinical Features</strong>
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</h4>
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<p>Lavy et al. (1966) observed 4 of 7 offspring of a third-cousin marriage who had characteristic vertebral anomalies including hemivertebrae and block vertebrae accompanied by deformity of the ribs. All affected children died of respiratory infection under 1 year of age. Moseley and Bonforte (1969) described the same disorder in 2 apparently unrelated children of nonconsanguineous Puerto Rican parents. Caffey (1967) described brother and sister with short neck and trunk in contrast to extremities of normal length. Both showed 'hemivertebrae at practically all levels in the spine.' The skeletons were otherwise normal. Norum (1969) observed 4 similar cases in 2 related sibships in an inbred community in eastern Kentucky. Fused ribs also occurred in affected persons. See 122600 for an autosomal dominant form of spondylocostal dysostosis. </p><p>Eller and Morton (1970) described similar deformity of the chest and spine, with additional craniolacunia, rachischisis, and urinary tract anomalies, in the offspring of a woman who admitted to a single exposure to LSD about the time of conception. </p><p>Cantu et al. (1971) described 5 cases in an inbred kindred. Castroviejo et al. (1973) reported spondylothoracic dysplasia in 3 Spanish sisters who showed the typically short thorax, short neck with limited mobility, winged scapulae, and scoliosis or kyphoscoliosis. Particularly noteworthy were the vertebral anomalies, including hemivertebrae and vertebral fusions affecting the whole vertebral column. Rib abnormalities in form and number were seen. One sister showed decreased mental function and another showed incompletely formed odontoid process. Bartsocas et al. (1974) described 3 affected sibs (2 of them identical twin sisters). Satar et al. (1992) described this disorder in identical twins whose parents were first cousins. Van Thienen and Van der Auwera (1994) described monozygotic twins discordant for this syndrome, either due to a postzygotic mutation or to a phenocopy. </p><p>Jarcho and Levin (1938) are credited with first describing this syndrome, in a black brother and sister in Baltimore, but they mistakenly spoke of the condition as the same as the Klippel-Feil syndrome (118100). Perez-Comas and Garcia-Castro (1974) described 6 cases in Puerto Ricans, including 2 affected sibs. Their designation, occipito-facial-cervico-thoracic-abdomino-digital dysplasia, seems in the first place ridiculously long, but really unwarranted since all changes seem to be secondary or tertiary to the primary changes in the spine. Several authors refer to a typical 'crab-like' radiologic appearance of the thoracic skeleton. Conceivably the early lethal form represented by the cases of Jarcho and Levin (1938) and the cases with survival to a later age, e.g., the cases of Norum (1969) and Cantu et al. (1971) are produced by homozygosity for alleles at the same locus. Devos et al. (1978) described associated abnormalities of ureters and renal pelvis. </p><p>Gassner (1982) described 8 affected persons in 4 interrelated families. One also had Down syndrome and died at the age of 7 days. The others showed no decrease in life expectancy and no other malformations. Autosomal recessive inheritance was well documented. Young and Moore (1984) reported a case in a child of first-cousin parents. They claimed it to be the first report of the condition in the United Kingdom. Cassidy et al. (1984) reported observations on a Puerto Rican child living in Connecticut. Giacoia and Say (1991) found diastematomyelia, spina bifida, and open meningocele in an American Indian infant with the features of the Jarcho-Levin syndrome. Turnpenny et al. (1991) indicated the wide variability in 7 affected members of an inbred Israeli-Arab family. Romeo et al. (1991) reported 2 affected brothers and 2 affected sisters related to each other as first cousins once removed. Karnes et al. (1991) reported 4 new cases. They supported the classification of Solomon et al. (1978) into 2 subtypes: spondylocostal dysostosis and spondylothoracic dysostosis. McCall et al. (1994) described the case of a Puerto Rican child with unusually long survival to age 11 years. Aurora et al. (1996) reported a newborn with characteristic features of Jarcho-Levin syndrome in addition to complex congenital heart disease (situs solitus, double outlet right ventricle, atrial septal defect) and hypospadias. </p><p>Mortier et al. (1996) analyzed 26 new patients with multiple vertebral segmentation defects and reviewed 115 previously reported cases. They recognized 3 distinct entities based on radiographic and clinical findings: Jarcho-Levin syndrome, a lethal autosomal recessive form, characterized by a symmetric crab-chest; spondylocostal dysostosis (122600), a benign autosomal dominant condition; and spondylothoracic dysostosis, which shows considerable clinical and radiographic overlap with spondylocostal dysostosis and has an autosomal recessive mode of inheritance. The authors noted that intrafamilial variability is striking (Cantu et al., 1971; Franceschini et al., 1974; Trindade and de Nobrega, 1977; Turnpenny et al., 1991); affected individuals either die in infancy of respiratory failure or survive into adulthood with minimal symptoms. Associated anomalies are not common and are only observed in lethal cases. Mortier et al. (1996) stated that sporadic cases of vertebral segmentation defects are difficult to classify as to etiology, genetic versus nongenetic, and concluded that they probably represent a heterogeneous group. Associated anomalies are more common in this group than in the familial types and may involve both mesodermally and ectodermally derived structures. Mortier et al. (1996) also concluded that the body segment in which the nonvertebral malformations occur corresponds to the site of the vertebral segmentation defects. </p><p>Bannykh et al. (2003) reported 2 affected Caucasian sibs and provided a review of the Jarcho-Levin syndrome and related disorders. </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>Biochemical Features</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>Because vertebral development is controlled by a limited number of master genes including PAX1 (167411) and PAX9 (167416), Bannykh et al. (2003) analyzed protein expression from these genes in 2 sibs with Jarcho-Levin syndrome and in age-matched controls. Immunochemical analysis showed a significant reduction in levels of protein expression on chondrocytes of the vertebral column. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>Turnpenny et al. (1999) performed genomewide scanning by homozygosity mapping in a large consanguineous Arab-Israeli family in which there were 6 definite cases of autosomal recessive spondylocostal dysostosis. Significant linkage was found to 19q13, with a lod score of 6.9. This was confirmed in a second Pakistani family with 3 affected members, with a lod score of 2.4. The combined haplotype data identified a critical region between D19S570 and D19S908, an interval of 8.5 cM on 19q13.1-q13.3. </p><p>Using homology of synteny and linkage data suggesting that the SCDO1 locus is on chromosome 19q13.1-q13.3 and that a mouse region containing the Notch ligand delta-like-3 gene is mutated in the x-ray-induced mouse mutant 'pudgy,' causing a variety of vertebral costal defects similar to the SCDO1 phenotype, Bulman et al. (2000) cloned and sequenced human DLL3 to evaluate it as a candidate gene for SCDO1. They identified mutations in 3 autosomal recessive SCDO1 families. Two of the mutations (602768.0001 and 602768.0002) predicted truncations within conserved extracellular domains; the third (602768.0003) was a missense mutation in a highly conserved glycine residue of the fifth epidermal growth factor repeat, which revealed an important functional role for this domain. These were the first mutations in a human delta homolog, thus highlighting the critical role of the Notch signaling pathway and its components in patterning the mammalian axial skeleton. </p><p>Turnpenny et al. (2003) sequenced the DLL3 gene in a series of spondylocostal dysostosis patients from 14 families and identified 12 mutations, 2 of which occurred twice. The patients represented diverse ethnic backgrounds and 6 came from traditionally consanguineous communities. In all affected individuals, the radiologic phenotype was abnormal segmentation throughout the entire vertebral column with smooth outlines to the vertebral bodies in childhood, for which Turnpenny et al. (2003) suggested the term 'pebble beach sign.' This appeared to be a very consistent phenotype-genotype correlation. Turnpenny et al. (2003) suggested the designation SCD type 1 for the autosomal recessive form caused by mutation in the DLL3 gene. </p><p>Day and Fryer (2003) reported 2 pregnancies in 1 family in which diaphragmatic hernia and preaxial polydactyly accompanied spondylothoracic dysplasia. The first pregnancy was monozygous male twins and the second was a female sib. The pregnancies were terminated. The authors suggested that spondylothoracic dysplasia and spondylocostal dysostosis may be allelic. </p><p>In a family with spondylocostal dysostosis, previously reported by Floor et al. (1989) and believed to represent autosomal dominant inheritance, Whittock et al. (2004) performed haplotype analysis which suggested pseudodominant transmission with segregation of 2 distinct disease alleles. Direct sequencing of the DLL3 gene revealed that the affected father was homozygous and all 4 sibs were heterozygous for a 1440delG mutation (602768.0007), whereas the unaffected mother and 2 affected sibs were heterozygous for a G504D substitution (602768.0008), thus confirming autosomal recessive inheritance in all affected members of the family. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Heterogeneity</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a family segregating autosomal recessive spondylocostal dysplasia, Iughetti et al. (2000) could find no evidence of linkage to 19q, indicating genetic heterogeneity in this disorder. </p><p>Whittock et al. (2004) demonstrated a mutation in the basic helix-loop-helix transcription factor gene, MESP2 (605195), in a consanguineous family with 2 children affected by spondylocostal dysostosis (SCDO2; 608681). The phenotype was milder than that of DLL3 mutation-positive spondylocostal dysostosis, and not all vertebrae were affected. </p><p>Both the DLL3 and MESP2 genes are important components of the Notch signaling pathway, which has multiple roles in development and disease. Sparrow et al. (2006) used a candidate-gene approach to identify mutation in a third Notch pathway gene, lunatic fringe (LFNG; 602576.0001), in a family with autosomal recessive spondylocostal dysostosis (SCDO3; 609813). </p><p>In 5 children with short stature and congenital scoliosis from 4 Taiwanese Han Chinese families, Wang et al. (2011) analyzed the DLL3, MESP2, LFNG, and HES7 genes but identified no causative mutations. Apart from abnormal vertebral segmentation defects, the children had no other systemic anomalies, and all achieved normal developmental milestones. Two sisters whose parents were descendants of the same minor aboriginal tribe in Taiwan showed marked phenotypic similarity, including decreased size of vertebral bodies, hypoplasia of disc spaces throughout the thoracic spine, thoracic scoliosis, and block lumbar vertebrae. The other 3 unrelated patients displayed varying degrees of block vertebrae and hemivertebrae in the thoracic spine, with asymmetric fusion, bifid ribs, and butterfly vertebrae. Noting that none of their patients completely fulfilled the criteria for the strictest definition of SCD, which requires contiguous involvement of at least 10 spinal segments and aberrant rib alignment, with some asymmetry in rib alignment and irregular points of rib fusions, but basic overall symmetry in the shape of the thorax, Wang et al. (2011) suggested that these patients might represent a subtype of SCD occurring in the Taiwanese population. </p>
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<span class="mim-font">
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<strong>Nomenclature</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>The terms dysostosis and dysplasia are used here interchangeably. Both words refer to abnormal development or formation. A distinction between the 2 terms has some usefulness, however. The dysostoses, in the usage and interpretation of Spranger (1997), referred to disorders due to defects in genes that are active predominantly in early stages of development and only at that stage are likely to result in the 'frozen' type of malformation. On the other hand, defects in genes that are active later in development or in extrauterine life cause dysplasia. Some disorders, such as fibrodysplasia ossificans progressiva (135100), show characteristics of a malformation (dysostosis) in the malformation of the thumbs and toes and characteristics of a dysplasia in the form of the ectopic ossification which develops in the first decade of life.</p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Beighton and Horan (1981); Gellis and Feingold (1976); Pfeiffer et
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al. (1983)
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</span>
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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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Aurora, P., Wallis, C. E., Winter, R. M.
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<strong>The Jarcho-Levin syndrome (spondylocostal dysplasia) and complex congenital heart disease: a case report.</strong>
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Clin. Dysmorph. 5: 165-169, 1996.
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[PubMed: 8723567]
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[Full Text: https://doi.org/10.1097/00019605-199604000-00009]
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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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Bannykh, S. I., Emery, S. C., Gerber, J.-K., Jones, K. L., Benirschke, K., Masliah, E.
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<strong>Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review.</strong>
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Am. J. Med. Genet. 120A: 241-246, 2003.
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[PubMed: 12833407]
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[Full Text: https://doi.org/10.1002/ajmg.a.20192]
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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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Bartsocas, C. S., Kiossoglou, K. A., Papas, C. V., Xanthou-Tsingoglou, M., Anagnostakis, D. E., Daskalopoulou, H. D.
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<strong>Costovertebral dysplasia.</strong>
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Birth Defects Orig. Art. Ser. X(9): 221-226, 1974.
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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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Beighton, P., Horan, F. T.
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<strong>Spondylocostal dysostosis in South African sisters.</strong>
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Clin. Genet. 19: 23-25, 1981.
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[PubMed: 7460377]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1981.tb00662.x]
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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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Bulman, M. P., Kusumi, K., Frayling, T. M., McKeown, C., Garrett, C., Lander, E. S., Krumlauf, R., Hattersley, A. T., Ellard, S., Turnpenny, P. D.
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<strong>Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.</strong>
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Nature Genet. 24: 438-441, 2000.
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[PubMed: 10742114]
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[Full Text: https://doi.org/10.1038/74307]
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</p>
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<li>
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<p class="mim-text-font">
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Caffey, J. P.
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Marla J. F. O'Neill - updated : 9/25/2015<br>Marla J. F. O'Neill - updated : 1/10/2011<br>Marla J. F. O'Neill - updated : 12/27/2010<br>Victor A. McKusick - updated : 12/29/2005<br>Marla J. F. O'Neill - updated : 8/4/2005<br>Victor A. McKusick - updated : 1/12/2005<br>Marla J. F. O'Neill - updated : 7/20/2004<br>Victor A. McKusick - updated : 5/20/2004<br>Siobhan M. Dolan - updated : 2/19/2004<br>Victor A. McKusick - updated : 11/6/2003<br>Victor A. McKusick - updated : 12/19/2000<br>Ada Hamosh - updated : 3/29/2000<br>Victor A. McKusick - updated : 6/28/1999<br>Victor A. McKusick - updated : 6/2/1997<br>Iosif W. Lurie - updated : 7/21/1996
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Victor A. McKusick : 6/4/1986
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carol : 04/22/2022<br>carol : 03/10/2022<br>carol : 10/03/2016<br>carol : 07/07/2016<br>carol : 9/25/2015<br>carol : 9/22/2015<br>alopez : 3/26/2015<br>carol : 3/23/2015<br>mcolton : 3/4/2015<br>carol : 9/11/2014<br>carol : 9/19/2013<br>carol : 1/10/2011<br>carol : 1/5/2011<br>wwang : 12/28/2010<br>terry : 12/27/2010<br>carol : 10/26/2009<br>wwang : 9/15/2009<br>alopez : 12/5/2008<br>wwang : 9/16/2008<br>ckniffin : 9/11/2008<br>carol : 6/13/2008<br>alopez : 12/30/2005<br>alopez : 12/30/2005<br>terry : 12/29/2005<br>wwang : 8/5/2005<br>terry : 8/4/2005<br>alopez : 1/26/2005<br>terry : 1/12/2005<br>carol : 8/26/2004<br>carol : 7/21/2004<br>terry : 7/20/2004<br>alopez : 5/21/2004<br>terry : 5/20/2004<br>tkritzer : 2/19/2004<br>terry : 2/19/2004<br>tkritzer : 11/11/2003<br>terry : 11/6/2003<br>cwells : 7/31/2003<br>carol : 12/19/2000<br>terry : 12/19/2000<br>alopez : 3/30/2000<br>carol : 3/29/2000<br>carol : 7/9/1999<br>carol : 7/9/1999<br>jlewis : 7/7/1999<br>terry : 6/28/1999<br>mark : 6/2/1997<br>terry : 5/28/1997<br>carol : 7/21/1996<br>terry : 4/5/1996<br>mark : 2/26/1996<br>mark : 2/26/1996<br>terry : 2/20/1996<br>terry : 5/25/1995<br>davew : 8/17/1994<br>carol : 6/1/1994<br>mimadm : 4/18/1994<br>warfield : 3/10/1994<br>carol : 7/15/1992
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