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Entry
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- #256050 - ATELOSTEOGENESIS, TYPE II; AO2
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- OMIM
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<p>
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<span class="h4">#256050</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/256050"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS108720"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div 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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</a>
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</h4>
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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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</span>
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</div>
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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=ATELOSTEOGENESIS, TYPE II" 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=10766&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/NBK1317/" 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/641" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/atelosteogenesis-type-2" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=256050[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=56304" 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/c5aef7d7-b24b-4f08-bfef-8f62cd51ff2e/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>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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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:0050648" 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/256050" 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/OMIA001315/" 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:0050648" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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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>
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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> 254055004<br />
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<strong>ORPHA:</strong> 56304<br />
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<strong>DO:</strong> 0050648<br />
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">ICD+</a>
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</div>
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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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256050
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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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ATELOSTEOGENESIS, TYPE II; AO2
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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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AOII<br />
|
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NEONATAL OSSEOUS DYSPLASIA I
|
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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="includedTitles" 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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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
|
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<span class="h3 mim-font">
|
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DE LA CHAPELLE DYSPLASIA, INCLUDED; DLCD, INCLUDED
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</span>
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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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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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<tbody>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/5/658?start=-3&limit=10&highlight=658">
|
|
5q32
|
|
</a>
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Atelosteogenesis, type II
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/256050"> 256050 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
|
</span>
|
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</td>
|
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
SLC26A2
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606718"> 606718 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/5/658?start=-3&limit=10&highlight=658">
|
|
5q32
|
|
</a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
De la Chapelle dysplasia
|
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|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/256050"> 256050 </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">
|
|
SLC26A2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606718"> 606718 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
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</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
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|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/256050" 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/PS108720" 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/256050" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/256050" 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">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
<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> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Midface hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853242&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853242</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011800</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011800</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=f0adae8ae2dc0ad9ed28c3c3e0e8f8a9" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Midface_Retrusion-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=f0adae8ae2dc0ad9ed28c3c3e0e8f8a9" 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 /> -
|
|
Micrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Micrognathia-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" 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>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Flattened nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836542&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836542</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cleft palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837218</a>, <a href="https://bioportal.bioontology.org/search?q=C2981150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2981150</a>, <a href="https://bioportal.bioontology.org/search?q=C2240378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240378</a>, <a href="https://bioportal.bioontology.org/search?q=C0008925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Neck </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short neck <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95427009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95427009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521525&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521525</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Neck,Short-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Lung </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Respiratory insufficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409622000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409622000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409623005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409623005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J96.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J96.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1145670&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1145670</a>, <a href="https://bioportal.bioontology.org/search?q=C0035229&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035229</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002878" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002878</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002093</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002093</a>]</span><br /> -
|
|
Pulmonary hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80825009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80825009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265783&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265783</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002089" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002089</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002089" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002089</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
|
|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ribs Sternum Clavicles & Scapulae </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Small thorax <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298709006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298709006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0575483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575483</a>, <a href="https://bioportal.bioontology.org/search?q=C1837482&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837482</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005257</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005257</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cervical kyphosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298393001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298393001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0575170&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575170</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002947" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002947</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002947" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002947</a>]</span><br /> -
|
|
Platyspondyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844704&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844704</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000926" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000926</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000926" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000926</a>]</span><br /> -
|
|
Vertebral body coronal clefts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850557&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850557</a>]</span><br /> -
|
|
Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br /> -
|
|
Lumbar hyperlordosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/313471000119104" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">313471000119104</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1184923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1184923</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002938</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002938</a>]</span><br /> -
|
|
Horizontal sacrum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850558&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850558</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003440" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003440</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003440" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003440</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pelvis </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Round-shaped iliac bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550600&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550600</a>]</span><br /> -
|
|
Flat acetabulae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865196&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865196</a>]</span><br /> -
|
|
Shortened sacroiliac notches <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866689&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866689</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003185" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003185</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003185" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003185</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Severe micromelia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1832986&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832986</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74370006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74370006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002983" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002983</a>]</span><br /> -
|
|
Bifid distal humerus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850560&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850560</a>]</span><br /> -
|
|
Short, dumbbell femur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850561&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850561</a>]</span><br /> -
|
|
Abducted thumbs and great toes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850562&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850562</a>]</span><br /> -
|
|
Gap between first and second toe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840069&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840069</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001852" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001852</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001852" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001852</a>]</span><br /> -
|
|
Hypoplastic, rounded middle phalanges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850564&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850564</a>]</span><br /> -
|
|
Talipes equinovarus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397932003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397932003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156475005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156475005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.89</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> PRENATAL MANIFESTATIONS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Delivery </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Stillborn or death shortly after birth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850556&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850556</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Lacunar halos around chondrocytes in skeletal cartilage <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850565&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850565</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Allelic to diastrophic dysplasia (<a href="/entry/222600">222600</a>), achondrogenesis, type 1b (<a href="/entry/600972">600972</a>), and multiple epiphyseal dysplasia, type 4 (<a href="/entry/226900">226900</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
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<strong> MOLECULAR BASIS </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Caused by mutation in the solute carrier family 26 (sulfate transporter), member 2 gene (SLC26A2, <a href="/entry/606718#0002">606718.0002</a>)<br />
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<h5>
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Atelosteogenesis
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- <a href="/phenotypicSeries/PS108720">PS108720</a>
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- 4 Entries
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<strong>Location</strong>
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<strong>Phenotype</strong>
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<strong>Inheritance</strong>
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<strong>Phenotype<br />mapping key</strong>
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<strong>Phenotype<br />MIM number</strong>
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<strong>Gene/Locus</strong>
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<strong>Gene/Locus<br />MIM number</strong>
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<a href="/geneMap/3/418?start=-3&limit=10&highlight=418"> 3p14.3 </a>
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<span class="mim-font">
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<a href="/entry/108721"> Atelosteogenesis, type III </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/108721"> 108721 </a>
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<a href="/entry/603381"> FLNB </a>
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<span class="mim-font">
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<a href="/entry/603381"> 603381 </a>
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<a href="/geneMap/3/418?start=-3&limit=10&highlight=418"> 3p14.3 </a>
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<span class="mim-font">
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<a href="/entry/108720"> Atelosteogenesis, type I </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/108720"> 108720 </a>
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<a href="/entry/603381"> FLNB </a>
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<a href="/entry/603381"> 603381 </a>
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<a href="/geneMap/5/658?start=-3&limit=10&highlight=658"> 5q32 </a>
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<a href="/entry/256050"> Atelosteogenesis, type II </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/256050"> 256050 </a>
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<a href="/entry/606718"> SLC26A2 </a>
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<span class="mim-font">
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<a href="/entry/606718"> 606718 </a>
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<a href="/geneMap/5/658?start=-3&limit=10&highlight=658"> 5q32 </a>
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<a href="/entry/256050"> De la Chapelle dysplasia </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/256050"> 256050 </a>
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<a href="/entry/606718"> SLC26A2 </a>
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<span class="mim-font">
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<a href="/entry/606718"> 606718 </a>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that atelosteogenesis type II (AO2) and de la Chapelle dysplasia are caused by homozygous or compound heterozygous mutation in the SLC26A2 gene (<a href="/entry/606718">606718</a>), which encodes the diastrophic dysplasia sulfate transporter (DTDST), on chromosome 5q32.</p><p>For a discussion of genetic heterogeneity of atelosteogenesis, see AO1 (<a href="/entry/108720">108720</a>).</p>
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<br />
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<strong>Clinical Features</strong>
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<p><a href="#9" class="mim-tip-reference" title="Sillence, D., Kozlowski, K., Rogers, J., Sprague, P., Cullity, G., Osborn, R. <strong>Atelosteogenesis: evidence for heterogeneity.</strong> Pediat. Radiol. 17: 112-118, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3562108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3562108</a>] [<a href="https://doi.org/10.1007/BF02388086" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3562108">Sillence et al. (1987)</a> described 4 cases of neonatal death dwarfism resembling atelosteogenesis but with some distinctive radiographic and characteristic histopathologic features. They proposed the name atelosteogenesis II. Atelosteogenesis type II, also called neonatal osseous dysplasia I, is characterized by severely shortened limbs, small chest, scoliosis, clubfoot of the equinovarus type (talipes equinovarus), abducted thumbs and great toes, and cleft palate. Radiographic findings include cervical kyphosis, scoliosis, and lumbar hyperlordosis with horizontal sacrum, flattened vertebrae with coronal clefts, and round-shaped iliac bones with flat acetabulae. The distal humerus is typically bifid, and the distal femur rounded. The second and/or third metacarpals and first and second metatarsals are often larger than the other bones of the hand and foot. Patients die of respiratory insufficiency shortly after birth because of the collapse of the airways and pulmonary hypoplasia due to the small rib cage. On the basis of reports of parental consanguinity and recurrence among offspring of unaffected parents, AO II is presumed to be inherited as an autosomal recessive trait. AO II is similar to but more severe than the generally nonlethal autosomal recessive chondrodysplasia, diastrophic dysplasia (DTD; <a href="/entry/222600">222600</a>) (<a href="#9" class="mim-tip-reference" title="Sillence, D., Kozlowski, K., Rogers, J., Sprague, P., Cullity, G., Osborn, R. <strong>Atelosteogenesis: evidence for heterogeneity.</strong> Pediat. Radiol. 17: 112-118, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3562108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3562108</a>] [<a href="https://doi.org/10.1007/BF02388086" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3562108">Sillence et al., 1987</a>; <a href="#3" class="mim-tip-reference" title="Hastbacka, J., Superti-Furga, A., Wilcox, W. R., Rimoin, D. L., Cohn, D. H., Lander, E. S. <strong>Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.</strong> Am. J. Hum. Genet. 58: 255-262, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8571951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8571951</a>]" pmid="8571951">Hastbacka et al., 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3562108+8571951" 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>De la Chapelle Dysplasia</em></strong></p><p>
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<a href="#2" class="mim-tip-reference" title="de la Chapelle, A., Maroteaux, P., Havu, N., Granroth, G. <strong>Une rare dysplasie osseuse letale de transmission recessive autosomique.</strong> Arch. Franc. Pediat. 29: 759-770, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4644462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4644462</a>]" pmid="4644462">De la Chapelle et al. (1972)</a> described a hitherto unrecognized skeletal dysplasia in a stillborn son and daughter of consanguineous parents. The limbs were strikingly short, with almost triangular fibula and ulna. The middle phalanges were curiously double. Both sibs had cleft palate and patent foramen ovale and ductus Botalli. The boy also had endocrine and hematologic abnormalities. A relationship of this skeletal dysplasia to mesomelic dwarfism of the hypoplastic ulna, fibula and mandible types (<a href="/entry/249700">249700</a>) could be suggested. <a href="#12" class="mim-tip-reference" title="Whitley, C. B., Burke, B. A., Granroth, G., Gorlin, R. J. <strong>De la Chapelle dysplasia.</strong> Am. J. Med. Genet. 25: 29-39, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3799721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3799721</a>] [<a href="https://doi.org/10.1002/ajmg.1320250105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3799721">Whitley et al. (1986)</a> reported a third affected child (daughter) in the original family and a sporadic case in a male infant born to unrelated parents. Cleft palate was present in all. Respiratory insufficiency was the apparent cause of death in each patient. Cartilage from respiratory structures was abnormal and the abnormality accounts for the consistent triad of laryngeal stenosis, tracheobronchomalacia, and pulmonary hypoplasia. According to <a href="#12" class="mim-tip-reference" title="Whitley, C. B., Burke, B. A., Granroth, G., Gorlin, R. J. <strong>De la Chapelle dysplasia.</strong> Am. J. Med. Genet. 25: 29-39, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3799721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3799721</a>] [<a href="https://doi.org/10.1002/ajmg.1320250105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3799721">Whitley et al. (1986)</a>, the possible case of de la Chapelle dysplasia reported by <a href="#8" class="mim-tip-reference" title="Salonen, R. <strong>Neonatal osseous dysplasia I: second report.</strong> Prog. Clin. Biol. Res. 104: 171-172, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7163263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7163263</a>]" pmid="7163263">Salonen (1982)</a> has been reclassified as atelosteogenesis type I (<a href="/entry/108720">108720</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4644462+7163263+3799721" 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><strong><em>Prenatal Diagnosis</em></strong></p><p>
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<a href="#6" class="mim-tip-reference" title="Nores, J. A., Rotmensch, S., Romero, R., Avila, C., Inati, M., Hobbins, J. C. <strong>Atelosteogenesis type II: sonographic and radiological correlation.</strong> Prenatal Diag. 12: 741-753, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1279661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1279661</a>] [<a href="https://doi.org/10.1002/pd.1970120907" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1279661">Nores et al. (1992)</a> described a case labeled AO type II in which prenatal sonographic and neonatal radiographic findings were correlated to provide the basis of prenatal diagnosis of the entity. Autosomal recessive inheritance was supported by recurrence in a subsequent pregnancy. The following morphologic features could be recognized by prenatal ultrasonography: coronal clefts of the vertebral bodies, metaphyseal and epiphyseal abnormalities, spinal deviations such as cervical kyphosis and a horizontal sacrum, additional ossification centers in the pelvis, and preaxial deviation of the thumbs and toes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1279661" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Molecular Genetics</strong>
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<p>Because of similarities between atelosteogenesis type II and the much milder, generally nonlethal diastrophic dysplasia, Hastbacka et al. (<a href="#4" class="mim-tip-reference" title="Hastbacka, J., Wilcox, W. R., Superti-Furga, A., Rimoin, D. L., Cohn, D. H., Lander, E. S. <strong>Atelosteogenesis type II is caused by mutations in the dystrophic dysplasia sulfate transporter gene (DTDST). (Abstract)</strong> Am. J. Molec. Genet. 57: A48 only, 1995."None>1995</a>, <a href="#3" class="mim-tip-reference" title="Hastbacka, J., Superti-Furga, A., Wilcox, W. R., Rimoin, D. L., Cohn, D. H., Lander, E. S. <strong>Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.</strong> Am. J. Hum. Genet. 58: 255-262, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8571951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8571951</a>]" pmid="8571951">1996</a>) studied cultured skin fibroblasts of 3 patients with AO2 and found them to have defective sulfate transport and defective sulfation of proteoglycans as in diastrophic dysplasia. Furthermore, by direct sequencing they observed mutations in all 3 patients in the DTDST gene (see <a href="/entry/606718#0002">606718.0002</a>-<a href="/entry/606718#0004">606718.0004</a>). One of the mutations had also been found in diastrophic dysplasia patients. Thus it is probably no accident that AO2 was described by de la Chapelle of Helsinki because diastrophic dysplasia is unusually frequent in Finland. Cases of AO2 may be caused by compound heterozygosity for a mutation that causes diastrophic dysplasia when homozygous and another mutation that causes a more severe defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8571951" 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="Rossi, A., van der Harten, H. J., Beemer, F. A., Kleijer, W. J., Gitzelmann, R., Steinmann, B., Superti-Furga, A. <strong>Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.</strong> Hum. Genet. 98: 657-661, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8931695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8931695</a>] [<a href="https://doi.org/10.1007/s004390050279" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8931695">Rossi et al. (1996)</a> studied fibroblast cultures of 3 patients with mutations in the DTDST gene: one with diastrophic dysplasia (the least severe of the conditions caused by DTDST mutations), one with the more severe atelosteogenesis type II, and one with an intermediate phenotype designated AO2/DTD. Reduced incorporation of inorganic sulfate into macromolecules was found in all 3. Each of the 3 patients was found to be heterozygous for an arg279-to-trp mutation (<a href="/entry/606718#0002">606718.0002</a>) in the third extracellular loop of the DTDST gene product. In 2 patients (DTD and OA2/DTD), no other structural mutation was found, but PCR amplification and SSCP analysis of fibroblast cDNA showed reduced mRNA levels of the wildtype DTDST allele. <a href="#7" class="mim-tip-reference" title="Rossi, A., van der Harten, H. J., Beemer, F. A., Kleijer, W. J., Gitzelmann, R., Steinmann, B., Superti-Furga, A. <strong>Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.</strong> Hum. Genet. 98: 657-661, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8931695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8931695</a>] [<a href="https://doi.org/10.1007/s004390050279" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8931695">Rossi et al. (1996)</a> stated that these 2 patients may be compound heterozygotes for the 'Finnish' mutation which had as yet not been characterized at the DNA level and which was known to cause reduced expression of DTDST. The third patient (with AO2) had the R279W mutation compounded with a novel mutation, the deletion of cytosine-418, predicting a frameshift with premature termination. This allele was underrepresented in the cDNA, in accordance with previous observations that premature stop codons reduce mRNA levels. The presence of the DTDST R297W mutation in a total of 11 patients with AO2 or DTD emphasized the overlap between these conditions. This mutation had not been found in 8 analyzed patients with achondrogenesis type IB (ACG1B), the clinically most severe member of this family of chondrodysplasias, suggesting that the R279W mutation allows some residual activity of the sulfate transporter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8931695" 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 affected members of the patients reported by <a href="#2" class="mim-tip-reference" title="de la Chapelle, A., Maroteaux, P., Havu, N., Granroth, G. <strong>Une rare dysplasie osseuse letale de transmission recessive autosomique.</strong> Arch. Franc. Pediat. 29: 759-770, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4644462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4644462</a>]" pmid="4644462">de la Chapelle et al. (1972)</a>, <a href="#1" class="mim-tip-reference" title="Bonafe, L., Hastbacka, J., de la Chapelle, A., Campos-Xavier, A. B., Chiesa, C., Forlino, A., Superti-Furga, A., Rossi, A. <strong>A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia. (Letter)</strong> J. Med. Genet. 45: 827-831, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18708426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18708426</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18708426[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/10.1136/jmg.2007.057158" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18708426">Bonafe et al. (2008)</a> identified a homozygous mutation in the SLC26A2 gene (<a href="/entry/606718#0013">606718.0013</a>). The findings confirmed that de la Chapelle dysplasia is allelic to other SLC26A2 disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4644462+18708426" 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 Mexican girl with diastrophic dysplasia presenting some unusual clinical and radiographic features that are usually observed in atelosteogenesis type II, <a href="#5" class="mim-tip-reference" title="Macias-Gomez, N. M., Megarbane, A., Leal-Ugarte, E., Rodriguez-Rojas, L. X., Barros-Nunez, P. <strong>Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation.</strong> Am. J. Med. Genet. 129A: 190-192, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15316973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15316973</a>] [<a href="https://doi.org/10.1002/ajmg.a.30149" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15316973">Macias-Gomez et al. (2004)</a> identified compound heterozygosity for the R279W (<a href="/entry/606718#0002">606718.0002</a>) and R178X (<a href="/entry/606718#0005">606718.0005</a>) mutations in the SLC26A2 gene. The patient had cystic swelling of the external ears, cervical kyphosis, rhizomelia, 'hitchhiker' thumbs, bilateral talipes equinovarus, and short toes, features highly suggestive of diastrophic dysplasia. However, she also displayed severe and progressive cervical kyphosis, V-shaped distal humerus, bowed radii, horizontal sacrum, and gap between the first and second toes, features typical of atelosteogenesis type II. <a href="#5" class="mim-tip-reference" title="Macias-Gomez, N. M., Megarbane, A., Leal-Ugarte, E., Rodriguez-Rojas, L. X., Barros-Nunez, P. <strong>Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation.</strong> Am. J. Med. Genet. 129A: 190-192, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15316973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15316973</a>] [<a href="https://doi.org/10.1002/ajmg.a.30149" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15316973">Macias-Gomez et al. (2004)</a> concluded that the combination of a mild and a severe mutation led to an intermediate clinical picture, representing an apparent genotype-phenotype correlation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15316973" 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="#10" class="mim-tip-reference" title="Stern, H. J., Graham, J. M., Jr., Lachman, R. S., Horton, W., Bernini, P. M., Spiegel, P. K., Bodurtha, J., Ives, E. J., Bocian, M., Rimoin, D. L. <strong>Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II.</strong> Am. J. Med. Genet. 36: 183-195, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2368807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2368807</a>] [<a href="https://doi.org/10.1002/ajmg.1320360212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2368807">Stern et al. (1990)</a> suggested that what has been called atelosteogenesis type II (<a href="#9" class="mim-tip-reference" title="Sillence, D., Kozlowski, K., Rogers, J., Sprague, P., Cullity, G., Osborn, R. <strong>Atelosteogenesis: evidence for heterogeneity.</strong> Pediat. Radiol. 17: 112-118, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3562108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3562108</a>] [<a href="https://doi.org/10.1007/BF02388086" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3562108">Sillence et al., 1987</a>) was in fact de la Chapelle dysplasia. They suggested that the term atelosteogenesis type II be discarded, but proposed the term atelosteogenesis III for a distinct condition (AO3; <a href="/entry/108721">108721</a>). <a href="#11" class="mim-tip-reference" title="Superti-Furga, A., Rossi, A., Steinmann, B., Gitzelmann, R. <strong>A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.</strong> Am. J. Med. Genet. 63: 144-147, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8723100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8723100</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8723100">Superti-Furga et al. (1996)</a> stated that it was 'still unclear' whether de la Chapelle dysplasia was identical to atelosteogenesis type II. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3562108+8723100+2368807" 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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Bonafe, L., Hastbacka, J., de la Chapelle, A., Campos-Xavier, A. B., Chiesa, C., Forlino, A., Superti-Furga, A., Rossi, A.
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<strong>A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia. (Letter)</strong>
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J. Med. Genet. 45: 827-831, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18708426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18708426</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18708426[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=18708426" 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.2007.057158" target="_blank">Full Text</a>]
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de la Chapelle, A., Maroteaux, P., Havu, N., Granroth, G.
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<strong>Une rare dysplasie osseuse letale de transmission recessive autosomique.</strong>
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Arch. Franc. Pediat. 29: 759-770, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4644462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4644462</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4644462" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hastbacka, J., Superti-Furga, A., Wilcox, W. R., Rimoin, D. L., Cohn, D. H., Lander, E. S.
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<strong>Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.</strong>
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Am. J. Hum. Genet. 58: 255-262, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8571951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8571951</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8571951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hastbacka, J., Wilcox, W. R., Superti-Furga, A., Rimoin, D. L., Cohn, D. H., Lander, E. S.
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<strong>Atelosteogenesis type II is caused by mutations in the dystrophic dysplasia sulfate transporter gene (DTDST). (Abstract)</strong>
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Am. J. Molec. Genet. 57: A48 only, 1995.
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Macias-Gomez, N. M., Megarbane, A., Leal-Ugarte, E., Rodriguez-Rojas, L. X., Barros-Nunez, P.
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<strong>Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation.</strong>
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Am. J. Med. Genet. 129A: 190-192, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15316973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15316973</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15316973" 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.30149" target="_blank">Full Text</a>]
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Nores, J. A., Rotmensch, S., Romero, R., Avila, C., Inati, M., Hobbins, J. C.
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<strong>Atelosteogenesis type II: sonographic and radiological correlation.</strong>
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Prenatal Diag. 12: 741-753, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1279661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1279661</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1279661" 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/pd.1970120907" target="_blank">Full Text</a>]
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Rossi, A., van der Harten, H. J., Beemer, F. A., Kleijer, W. J., Gitzelmann, R., Steinmann, B., Superti-Furga, A.
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<strong>Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.</strong>
|
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Hum. Genet. 98: 657-661, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8931695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8931695</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8931695" 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/s004390050279" target="_blank">Full Text</a>]
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</p>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Salonen1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Salonen, R.
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<strong>Neonatal osseous dysplasia I: second report.</strong>
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Prog. Clin. Biol. Res. 104: 171-172, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7163263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7163263</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7163263" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Sillence1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sillence, D., Kozlowski, K., Rogers, J., Sprague, P., Cullity, G., Osborn, R.
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<strong>Atelosteogenesis: evidence for heterogeneity.</strong>
|
|
Pediat. Radiol. 17: 112-118, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3562108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3562108</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3562108" 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/BF02388086" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Stern1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stern, H. J., Graham, J. M., Jr., Lachman, R. S., Horton, W., Bernini, P. M., Spiegel, P. K., Bodurtha, J., Ives, E. J., Bocian, M., Rimoin, D. L.
|
|
<strong>Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II.</strong>
|
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Am. J. Med. Genet. 36: 183-195, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2368807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2368807</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2368807" 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.1320360212" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Superti-Furga1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Superti-Furga, A., Rossi, A., Steinmann, B., Gitzelmann, R.
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<strong>A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.</strong>
|
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Am. J. Med. Genet. 63: 144-147, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8723100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8723100</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8723100" 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/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Whitley1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Whitley, C. B., Burke, B. A., Granroth, G., Gorlin, R. J.
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<strong>De la Chapelle dysplasia.</strong>
|
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Am. J. Med. Genet. 25: 29-39, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3799721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3799721</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3799721" 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.1320250105" target="_blank">Full Text</a>]
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</p>
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</ol>
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<br />
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 2/11/2009
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 10/13/2006<br>Marla J. F. O'Neill - updated : 10/7/2004
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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</span>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/31/2014
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</span>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 3/31/2014<br>mcolton : 3/28/2014<br>carol : 9/11/2012<br>carol : 9/11/2012<br>wwang : 4/6/2009<br>ckniffin : 2/11/2009<br>carol : 10/26/2006<br>carol : 10/26/2006<br>terry : 10/13/2006<br>carol : 10/11/2004<br>terry : 10/7/2004<br>alopez : 3/23/2004<br>alopez : 3/23/2004<br>carol : 2/27/2002<br>carol : 11/24/1998<br>jenny : 1/10/1997<br>terry : 12/26/1996<br>mark : 1/16/1996<br>terry : 1/11/1996<br>mimadm : 3/11/1994<br>carol : 11/13/1992<br>carol : 11/6/1992<br>supermim : 3/17/1992<br>carol : 7/9/1990<br>supermim : 3/20/1990
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</span>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 256050
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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ATELOSTEOGENESIS, TYPE II; AO2
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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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<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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<h4>
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<span class="mim-font">
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AOII<br />
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NEONATAL OSSEOUS DYSPLASIA I
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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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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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DE LA CHAPELLE DYSPLASIA, INCLUDED; DLCD, INCLUDED
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</span>
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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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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 254055004;
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<strong>ORPHA:</strong> 56304;
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<strong>DO:</strong> 0050648;
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</span>
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</p>
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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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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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5q32
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</span>
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</td>
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<td>
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<span class="mim-font">
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Atelosteogenesis, type II
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</span>
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</td>
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<td>
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<span class="mim-font">
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256050
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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SLC26A2
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</span>
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<td>
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<span class="mim-font">
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606718
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<tr>
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<td>
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<span class="mim-font">
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5q32
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</td>
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<td>
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<span class="mim-font">
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De la Chapelle dysplasia
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</span>
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</td>
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<td>
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<span class="mim-font">
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256050
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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SLC26A2
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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606718
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div>
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<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>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that atelosteogenesis type II (AO2) and de la Chapelle dysplasia are caused by homozygous or compound heterozygous mutation in the SLC26A2 gene (606718), which encodes the diastrophic dysplasia sulfate transporter (DTDST), on chromosome 5q32.</p><p>For a discussion of genetic heterogeneity of atelosteogenesis, see AO1 (108720).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical 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>Sillence et al. (1987) described 4 cases of neonatal death dwarfism resembling atelosteogenesis but with some distinctive radiographic and characteristic histopathologic features. They proposed the name atelosteogenesis II. Atelosteogenesis type II, also called neonatal osseous dysplasia I, is characterized by severely shortened limbs, small chest, scoliosis, clubfoot of the equinovarus type (talipes equinovarus), abducted thumbs and great toes, and cleft palate. Radiographic findings include cervical kyphosis, scoliosis, and lumbar hyperlordosis with horizontal sacrum, flattened vertebrae with coronal clefts, and round-shaped iliac bones with flat acetabulae. The distal humerus is typically bifid, and the distal femur rounded. The second and/or third metacarpals and first and second metatarsals are often larger than the other bones of the hand and foot. Patients die of respiratory insufficiency shortly after birth because of the collapse of the airways and pulmonary hypoplasia due to the small rib cage. On the basis of reports of parental consanguinity and recurrence among offspring of unaffected parents, AO II is presumed to be inherited as an autosomal recessive trait. AO II is similar to but more severe than the generally nonlethal autosomal recessive chondrodysplasia, diastrophic dysplasia (DTD; 222600) (Sillence et al., 1987; Hastbacka et al., 1996). </p><p><strong><em>De la Chapelle Dysplasia</em></strong></p><p>
|
|
De la Chapelle et al. (1972) described a hitherto unrecognized skeletal dysplasia in a stillborn son and daughter of consanguineous parents. The limbs were strikingly short, with almost triangular fibula and ulna. The middle phalanges were curiously double. Both sibs had cleft palate and patent foramen ovale and ductus Botalli. The boy also had endocrine and hematologic abnormalities. A relationship of this skeletal dysplasia to mesomelic dwarfism of the hypoplastic ulna, fibula and mandible types (249700) could be suggested. Whitley et al. (1986) reported a third affected child (daughter) in the original family and a sporadic case in a male infant born to unrelated parents. Cleft palate was present in all. Respiratory insufficiency was the apparent cause of death in each patient. Cartilage from respiratory structures was abnormal and the abnormality accounts for the consistent triad of laryngeal stenosis, tracheobronchomalacia, and pulmonary hypoplasia. According to Whitley et al. (1986), the possible case of de la Chapelle dysplasia reported by Salonen (1982) has been reclassified as atelosteogenesis type I (108720). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Diagnosis</strong>
|
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</span>
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</h4>
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</div>
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<p><strong><em>Prenatal Diagnosis</em></strong></p><p>
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Nores et al. (1992) described a case labeled AO type II in which prenatal sonographic and neonatal radiographic findings were correlated to provide the basis of prenatal diagnosis of the entity. Autosomal recessive inheritance was supported by recurrence in a subsequent pregnancy. The following morphologic features could be recognized by prenatal ultrasonography: coronal clefts of the vertebral bodies, metaphyseal and epiphyseal abnormalities, spinal deviations such as cervical kyphosis and a horizontal sacrum, additional ossification centers in the pelvis, and preaxial deviation of the thumbs and toes. </p>
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<strong>Molecular Genetics</strong>
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<p>Because of similarities between atelosteogenesis type II and the much milder, generally nonlethal diastrophic dysplasia, Hastbacka et al. (1995, 1996) studied cultured skin fibroblasts of 3 patients with AO2 and found them to have defective sulfate transport and defective sulfation of proteoglycans as in diastrophic dysplasia. Furthermore, by direct sequencing they observed mutations in all 3 patients in the DTDST gene (see 606718.0002-606718.0004). One of the mutations had also been found in diastrophic dysplasia patients. Thus it is probably no accident that AO2 was described by de la Chapelle of Helsinki because diastrophic dysplasia is unusually frequent in Finland. Cases of AO2 may be caused by compound heterozygosity for a mutation that causes diastrophic dysplasia when homozygous and another mutation that causes a more severe defect. </p><p>Rossi et al. (1996) studied fibroblast cultures of 3 patients with mutations in the DTDST gene: one with diastrophic dysplasia (the least severe of the conditions caused by DTDST mutations), one with the more severe atelosteogenesis type II, and one with an intermediate phenotype designated AO2/DTD. Reduced incorporation of inorganic sulfate into macromolecules was found in all 3. Each of the 3 patients was found to be heterozygous for an arg279-to-trp mutation (606718.0002) in the third extracellular loop of the DTDST gene product. In 2 patients (DTD and OA2/DTD), no other structural mutation was found, but PCR amplification and SSCP analysis of fibroblast cDNA showed reduced mRNA levels of the wildtype DTDST allele. Rossi et al. (1996) stated that these 2 patients may be compound heterozygotes for the 'Finnish' mutation which had as yet not been characterized at the DNA level and which was known to cause reduced expression of DTDST. The third patient (with AO2) had the R279W mutation compounded with a novel mutation, the deletion of cytosine-418, predicting a frameshift with premature termination. This allele was underrepresented in the cDNA, in accordance with previous observations that premature stop codons reduce mRNA levels. The presence of the DTDST R297W mutation in a total of 11 patients with AO2 or DTD emphasized the overlap between these conditions. This mutation had not been found in 8 analyzed patients with achondrogenesis type IB (ACG1B), the clinically most severe member of this family of chondrodysplasias, suggesting that the R279W mutation allows some residual activity of the sulfate transporter. </p><p>In affected members of the patients reported by de la Chapelle et al. (1972), Bonafe et al. (2008) identified a homozygous mutation in the SLC26A2 gene (606718.0013). The findings confirmed that de la Chapelle dysplasia is allelic to other SLC26A2 disorders. </p>
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<strong>Genotype/Phenotype Correlations</strong>
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<p>In a Mexican girl with diastrophic dysplasia presenting some unusual clinical and radiographic features that are usually observed in atelosteogenesis type II, Macias-Gomez et al. (2004) identified compound heterozygosity for the R279W (606718.0002) and R178X (606718.0005) mutations in the SLC26A2 gene. The patient had cystic swelling of the external ears, cervical kyphosis, rhizomelia, 'hitchhiker' thumbs, bilateral talipes equinovarus, and short toes, features highly suggestive of diastrophic dysplasia. However, she also displayed severe and progressive cervical kyphosis, V-shaped distal humerus, bowed radii, horizontal sacrum, and gap between the first and second toes, features typical of atelosteogenesis type II. Macias-Gomez et al. (2004) concluded that the combination of a mild and a severe mutation led to an intermediate clinical picture, representing an apparent genotype-phenotype correlation. </p>
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<span class="mim-font">
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<strong>Nomenclature</strong>
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<span class="mim-text-font">
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<p>Stern et al. (1990) suggested that what has been called atelosteogenesis type II (Sillence et al., 1987) was in fact de la Chapelle dysplasia. They suggested that the term atelosteogenesis type II be discarded, but proposed the term atelosteogenesis III for a distinct condition (AO3; 108721). Superti-Furga et al. (1996) stated that it was 'still unclear' whether de la Chapelle dysplasia was identical to atelosteogenesis type II. </p>
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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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<p />
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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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Bonafe, L., Hastbacka, J., de la Chapelle, A., Campos-Xavier, A. B., Chiesa, C., Forlino, A., Superti-Furga, A., Rossi, A.
|
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<strong>A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia. (Letter)</strong>
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J. Med. Genet. 45: 827-831, 2008.
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[PubMed: 18708426]
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[Full Text: https://doi.org/10.1136/jmg.2007.057158]
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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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de la Chapelle, A., Maroteaux, P., Havu, N., Granroth, G.
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<strong>Une rare dysplasie osseuse letale de transmission recessive autosomique.</strong>
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Arch. Franc. Pediat. 29: 759-770, 1972.
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[PubMed: 4644462]
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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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Hastbacka, J., Superti-Furga, A., Wilcox, W. R., Rimoin, D. L., Cohn, D. H., Lander, E. S.
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<strong>Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.</strong>
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Am. J. Hum. Genet. 58: 255-262, 1996.
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[PubMed: 8571951]
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</p>
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<li>
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<p class="mim-text-font">
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Hastbacka, J., Wilcox, W. R., Superti-Furga, A., Rimoin, D. L., Cohn, D. H., Lander, E. S.
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<strong>Atelosteogenesis type II is caused by mutations in the dystrophic dysplasia sulfate transporter gene (DTDST). (Abstract)</strong>
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Am. J. Molec. Genet. 57: A48 only, 1995.
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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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Macias-Gomez, N. M., Megarbane, A., Leal-Ugarte, E., Rodriguez-Rojas, L. X., Barros-Nunez, P.
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<strong>Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation.</strong>
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Am. J. Med. Genet. 129A: 190-192, 2004.
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[PubMed: 15316973]
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[Full Text: https://doi.org/10.1002/ajmg.a.30149]
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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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Nores, J. A., Rotmensch, S., Romero, R., Avila, C., Inati, M., Hobbins, J. C.
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<strong>Atelosteogenesis type II: sonographic and radiological correlation.</strong>
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Prenatal Diag. 12: 741-753, 1992.
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[PubMed: 1279661]
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[Full Text: https://doi.org/10.1002/pd.1970120907]
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</li>
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<li>
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<p class="mim-text-font">
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Rossi, A., van der Harten, H. J., Beemer, F. A., Kleijer, W. J., Gitzelmann, R., Steinmann, B., Superti-Furga, A.
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<strong>Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.</strong>
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Hum. Genet. 98: 657-661, 1996.
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[PubMed: 8931695]
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[Full Text: https://doi.org/10.1007/s004390050279]
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</li>
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<li>
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<p class="mim-text-font">
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Salonen, R.
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<strong>Neonatal osseous dysplasia I: second report.</strong>
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Prog. Clin. Biol. Res. 104: 171-172, 1982.
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[PubMed: 7163263]
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<li>
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<p class="mim-text-font">
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Sillence, D., Kozlowski, K., Rogers, J., Sprague, P., Cullity, G., Osborn, R.
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<strong>Atelosteogenesis: evidence for heterogeneity.</strong>
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Pediat. Radiol. 17: 112-118, 1987.
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[PubMed: 3562108]
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[Full Text: https://doi.org/10.1007/BF02388086]
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<p class="mim-text-font">
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Stern, H. J., Graham, J. M., Jr., Lachman, R. S., Horton, W., Bernini, P. M., Spiegel, P. K., Bodurtha, J., Ives, E. J., Bocian, M., Rimoin, D. L.
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<strong>Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II.</strong>
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Am. J. Med. Genet. 36: 183-195, 1990.
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[PubMed: 2368807]
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[Full Text: https://doi.org/10.1002/ajmg.1320360212]
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<p class="mim-text-font">
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Superti-Furga, A., Rossi, A., Steinmann, B., Gitzelmann, R.
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<strong>A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.</strong>
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Am. J. Med. Genet. 63: 144-147, 1996.
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[PubMed: 8723100]
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[Full Text: https://doi.org/10.1002/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N]
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<li>
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<p class="mim-text-font">
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Whitley, C. B., Burke, B. A., Granroth, G., Gorlin, R. J.
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<strong>De la Chapelle dysplasia.</strong>
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Am. J. Med. Genet. 25: 29-39, 1986.
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[PubMed: 3799721]
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[Full Text: https://doi.org/10.1002/ajmg.1320250105]
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Cassandra L. Kniffin - updated : 2/11/2009<br>Marla J. F. O'Neill - updated : 10/13/2006<br>Marla J. F. O'Neill - updated : 10/7/2004
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