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Entry
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- #269500 - SCLEROSTEOSIS 1; SOST1
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- OMIM
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<p>
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<span class="h4">#269500</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/269500"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS269500"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</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=SCLEROSTEOSIS" 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=2819&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/NBK587318/" 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/6463" 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/sost-related-sclerosing-bone-dysplasia" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=269500[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=3152" 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/8298028b-8b3a-410d-982a-abccfc756b6b/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>
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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:0060756" 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/269500" 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/OMIA000507/" 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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<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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<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> 17568006<br />
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<strong>ORPHA:</strong> 3152<br />
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<strong>DO:</strong> 0060756<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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269500
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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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SCLEROSTEOSIS 1; SOST1
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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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SOST<br />
|
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CORTICAL HYPEROSTOSIS WITH SYNDACTYLY
|
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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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<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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<td>
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<span class="mim-font">
|
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<a href="/geneMap/17/618?start=-3&limit=10&highlight=618">
|
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17q21.31
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Sclerosteosis 1
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/269500"> 269500 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
|
</span>
|
|
</td>
|
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<td>
|
|
<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">
|
|
SOST
|
|
</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605740"> 605740 </a>
|
|
</span>
|
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</td>
|
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</tr>
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</tbody>
|
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</table>
|
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</div>
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</div>
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<div>
|
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|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/269500" 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>
|
|
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|
|
|
|
<div class="btn-group">
|
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|
|
<a href="/phenotypicSeries/PS269500" 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>
|
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<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/269500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/269500" 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>
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|
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<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
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|
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|
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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> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Gigantism, mild-moderate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849264&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849264</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86073008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86073008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80849007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80849007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Overgrowth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849265&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849265</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001548" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001548</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001548" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001548</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Frontal prominence <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849266&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849266</a>]</span><br /> -
|
|
Prognathism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72855002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72855002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109504005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109504005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22810007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22810007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.213</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0399526&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0399526</a>, <a href="https://bioportal.bioontology.org/search?q=C0033324&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033324</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2aaef6d7371d3478c5adcef40ea1e36f" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Prognathism-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2aaef6d7371d3478c5adcef40ea1e36f" 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 /> -
|
|
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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Deafness, secondary to cranial hyperostosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849267&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849267</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" 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 /> -
|
|
Proptosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18265008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18265008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H05.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H05.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015300&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015300</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000520" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000520</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000520" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000520</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6af31553b7a2036f686889c591efedb3" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Proptosis-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6af31553b7a2036f686889c591efedb3" 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 /> -
|
|
Vision loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7973008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7973008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397540003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397540003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H54.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H54.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/369.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">369.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3665346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665346</a>, <a href="https://bioportal.bioontology.org/search?q=C3665386&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665386</a>, <a href="https://bioportal.bioontology.org/search?q=C0456909&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0456909</a>, <a href="https://bioportal.bioontology.org/search?q=C3665347&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665347</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000505" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000505</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000572" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000572</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000618" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000618</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000572" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000572</a>]</span><br /> -
|
|
Optic atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/76976005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">76976005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/377.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/377.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029124&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029124</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span><br /> -
|
|
Convergent strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16596007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16596007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/378.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/378.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014877&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014877</a>, <a href="https://bioportal.bioontology.org/search?q=C4551734&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551734</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0020045" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0020045</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000565" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000565</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0020045" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0020045</a>]</span><br /> -
|
|
Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br /> -
|
|
Reduced visual fields <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1151008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1151008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235095&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235095</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001133" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001133</a>]</span><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">
|
|
|
|
- Broad, flat nasal root <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849269&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849269</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dental malocclusion <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/707598004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">707598004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/47944004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">47944004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000689" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000689</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000689" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000689</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
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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">
|
|
|
|
- Broad, dense clavicles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849261&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849261</a>]</span><br /> -
|
|
Broad, dense ribs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849262&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849262</a>]</span><br /> -
|
|
Sclerotic scapulae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849263&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849263</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001474" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001474</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001474" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001474</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skull </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Prominent, asymmetric mandible <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849270&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849270</a>]</span><br /> -
|
|
Cranial hyperostosis (onset in infancy) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849271&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849271</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004437" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004437</a>]</span><br /> -
|
|
Occlusion of cranial foramina <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849272&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849272</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Sclerotic vertebral endplates <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551970&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551970</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004576" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004576</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004576" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004576</a>]</span><br /> -
|
|
Sclerotic pedicles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849274&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849274</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">
|
|
|
|
- Sclerotic pelvis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849275&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849275</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">
|
|
|
|
- Cortically dense long tubular bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849276&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849276</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006415" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006415</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006415" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006415</a>]</span><br /> -
|
|
Lack of diaphyseal modeling <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849277&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849277</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 2-3 finger syndactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205139009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205139009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0432055&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0432055</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001233" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001233</a>]</span><br /> -
|
|
Deviation of terminal phalanges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849278&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849278</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nails </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
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- Nail dysplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3279947&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3279947</a>, <a href="https://bioportal.bioontology.org/search?q=C1834405&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834405</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002164" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002164</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002164" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002164</a>]</span><br />
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</span>
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<span class="h5 mim-font">
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<strong> NEUROLOGIC </strong>
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<span class="h5 mim-font">
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<em> Central Nervous System </em>
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<div style="margin-left: 2em;">
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- Facial palsy, secondary to cranial hyperostosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849260</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007285" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007285</a>]</span><br /> -
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Chronic headaches <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151293&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151293</a>]</span><br /> -
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Intellectual impairment <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0683322&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0683322</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100543</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100543</a>]</span><br /> -
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Increased intracranial pressure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271719001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271719001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151740&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151740</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002516" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002516</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002516" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002516</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Majority of cases in the Afrikaner population of South Africa<br /> -
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Sudden death secondary to impaction of medulla oblongata<br /> -
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Facial palsy often transient in infancy<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutations in the sclerostin gene (SOST, <a href="/entry/605740#0001">605740.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
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Sclerosteosis
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- <a href="/phenotypicSeries/PS269500">PS269500</a>
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- 2 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />mapping key</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Gene/Locus<br />MIM number</strong>
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/11/353?start=-3&limit=10&highlight=353"> 11p11.2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/614305"> Sclerosteosis 2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <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>
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<span class="mim-font">
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<a href="/entry/614305"> 614305 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/604270"> LRP4 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/604270"> 604270 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/17/618?start=-3&limit=10&highlight=618"> 17q21.31 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/269500"> Sclerosteosis 1 </a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</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>
|
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<span class="mim-font">
|
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<a href="/entry/269500"> 269500 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/605740"> SOST </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/605740"> 605740 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that sclerosteosis-1 (SOST1) is caused by homozygous mutation in the gene encoding sclerostin (SOST; <a href="/entry/605740">605740</a>) on chromosome 17q21.</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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<div>
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
|
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by <a href="#8" class="mim-tip-reference" title="Brunkow, M. E., Gardner, J. C., Van Ness, J., Paeper, B. W., Kovacevich, B. R., Proll, S., Skonier, J. E., Zhao, L., Sabo, P. J., Fu, Y.-H., Alisch, R. S., Gillett, L., Colbert, T., Tacconi, P., Galas, D., Hamersma, H., Beighton, P., Mulligan, J. T. <strong>Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.</strong> Am. J. Hum. Genet. 68: 577-589, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11179006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11179006</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11179006[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/318811" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11179006">Brunkow et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11179006" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Sclerosteosis</em></strong></p><p>
|
|
Sclerosteosis-2 (SOST2; <a href="/entry/614305">614305</a>) is caused by mutation in the LRP4 gene (<a href="/entry/604270">604270</a>) on chromosome 11p11.</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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<div>
|
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<a id="clinicalFeatures" class="mim-anchor"></a>
|
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Clinical Features</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
|
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<span class="mim-text-font">
|
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<p>Sclerosteosis is a term that was applied by <a href="#13" class="mim-tip-reference" title="Hansen, H. G. <strong>Sklerosteose. In: Opitz, H.; Schmid, F.: Handbuch der Kinderheilkunde. Vol. 6.</strong> Berlin: Springer (pub.) 1967. Pp. 351-355."None>Hansen (1967)</a> to a disorder similar to van Buchem hyperostosis corticalis generalisata (<a href="/entry/239100">239100</a>) but differing in radiologic appearance of the bone changes and in the presence of asymmetric cutaneous syndactyly of the index and middle fingers in many cases. The jaw has an unusually square appearance in this condition.</p><p>The cases of <a href="#16" class="mim-tip-reference" title="Kelley, C. H., Lawlah, J. W. <strong>Albers-Schonberg disease: a family survey.</strong> Radiology 47: 507-513, 1946.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20274620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20274620</a>] [<a href="https://doi.org/10.1148/47.5.507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20274620">Kelley and Lawlah (1946)</a> and of <a href="#25" class="mim-tip-reference" title="Witkop, C. J., Jr. <strong>Genetic disease of the oral cavity. In: Tiecke, R. W.: Oral Pathology.</strong> New York: McGraw-Hill (pub.) 1965. Pp. 786-843."None>Witkop (1965)</a> were from an inbred triracial group in southern Maryland known as the 'We-Sorts.' <a href="#19" class="mim-tip-reference" title="Stein, S. A., Witkop, C., Hill, S., Fallon, M. D., Viernstein, L., Gucer, G., McKeever, P., Long, D., Altman, J., Miller, N. R., Teitelbaum, S. L., Schlesinger, S. <strong>Sclerosteosis: neurogenetic and pathophysiologic analysis of an American kinship.</strong> Neurology 33: 267-277, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6681869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6681869</a>] [<a href="https://doi.org/10.1212/wnl.33.3.267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6681869">Stein et al. (1983)</a> provided a full report on the triracial Maryland kindred. They concluded that sclerosteosis is primarily a disorder of osteoblast hyperactivity. Syndactyly was present in 43 of 54 patients from 4 series; in the series of <a href="#19" class="mim-tip-reference" title="Stein, S. A., Witkop, C., Hill, S., Fallon, M. D., Viernstein, L., Gucer, G., McKeever, P., Long, D., Altman, J., Miller, N. R., Teitelbaum, S. L., Schlesinger, S. <strong>Sclerosteosis: neurogenetic and pathophysiologic analysis of an American kinship.</strong> Neurology 33: 267-277, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6681869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6681869</a>] [<a href="https://doi.org/10.1212/wnl.33.3.267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6681869">Stein et al. (1983)</a>, syndactyly was present in 4 of 5 patients in whom the relevant observations were recorded. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20274620+6681869" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Epstein, S., Hamersma, H., Beighton, P. <strong>Endocrine function in sclerosteosis.</strong> S. Afr. Med. J. 55: 1105-1110, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/225834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">225834</a>]" pmid="225834">Epstein et al. (1979)</a> could demonstrate no abnormality of pituitary function or of calcium homeostasis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=225834" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Beighton, P., Barnard, A., Hamersma, H., van der Wouden, A. <strong>The syndromic status of sclerosteosis and van Buchem disease.</strong> Clin. Genet. 25: 175-181, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6323069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6323069</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1984.tb00481.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6323069">Beighton et al. (1984)</a> examined 50 persons with sclerosteosis in the Afrikaner community of South Africa and 15 persons with van Buchem disease in Holland. The clinical and radiographic manifestations were very similar; the only notable difference was greater severity and syndactyly in most patients with sclerosteosis. <a href="#3" class="mim-tip-reference" title="Beighton, P., Barnard, A., Hamersma, H., van der Wouden, A. <strong>The syndromic status of sclerosteosis and van Buchem disease.</strong> Clin. Genet. 25: 175-181, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6323069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6323069</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1984.tb00481.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6323069">Beighton et al. (1984)</a> suggested that since the Afrikaners have Dutch antecedents, these 2 disorders may in fact be the same; modifying genes in the Afrikaner population may, they suggested, be responsible for the special features of sclerosteosis. <a href="#7" class="mim-tip-reference" title="Beighton, P. <strong>Sclerosteosis.</strong> J. Med. Genet. 25: 200-203, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3351908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3351908</a>] [<a href="https://doi.org/10.1136/jmg.25.3.200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3351908">Beighton (1988)</a> reviewed sclerosteosis on the basis of the frequent cases observed in the Afrikaner population of South Africa. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6323069+3351908" 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="#18" class="mim-tip-reference" title="Nager, G. T., Stein, S. A., Dorst, J. P., Holliday, M. J., Kennedy, D. W., Diehn, K. W., Jabs, E. W. <strong>Sclerosteosis involving the temporal bone: clinical and radiologic aspects.</strong> Am. J. Otolaryng. 4: 1-17, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6673595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6673595</a>] [<a href="https://doi.org/10.1016/s0196-0709(83)80002-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6673595">Nager et al. (1983)</a> reviewed clinical and radiologic aspects in detail and gave useful information on the changes in the temporal bones affecting hearing. Excessive height and weight are frequent in this condition. The terminal phalanges show radial deviation, and the fingernails tend to be dystrophic. Facial nerve paralysis may be present as early as birth or develop soon afterwards. It may be unilateral for many years. In some instances, anosmia, facial esthesia, optic nerve atrophy, convergent strabismus, and exophthalmos are present. Increased intracranial pressure may result from a combination of circumstances and may have led in several instances to sudden death from impaction of the brainstem in the foramen magnum. The patient studied by <a href="#18" class="mim-tip-reference" title="Nager, G. T., Stein, S. A., Dorst, J. P., Holliday, M. J., Kennedy, D. W., Diehn, K. W., Jabs, E. W. <strong>Sclerosteosis involving the temporal bone: clinical and radiologic aspects.</strong> Am. J. Otolaryng. 4: 1-17, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6673595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6673595</a>] [<a href="https://doi.org/10.1016/s0196-0709(83)80002-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6673595">Nager et al. (1983)</a> was related to the Maryland cases studied by <a href="#25" class="mim-tip-reference" title="Witkop, C. J., Jr. <strong>Genetic disease of the oral cavity. In: Tiecke, R. W.: Oral Pathology.</strong> New York: McGraw-Hill (pub.) 1965. Pp. 786-843."None>Witkop (1965)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6673595" 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="#22" class="mim-tip-reference" title="Tacconi, P., Ferrigno, P., Cocco, L., Cannas, A., Tamburini, G., Bergonzi, P., Giagheddu, M. <strong>Sclerosteosis: report of a case in a black African man.</strong> Clin. Genet. 53: 497-501, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9712543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9712543</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1998.tb02603.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9712543">Tacconi et al. (1998)</a> described sclerosteosis in a black man born in Senegal. He presented with full features of the disorder: tall stature, syndactyly, nail dysplasia, massive sclerosis of the long tubular bones, ribs, pelvis, and skull, and multiple cranial nerve involvement resulting in optic atrophy, facial palsy, and trigeminal neuralgia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9712543" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Hamersma, H., Gardner, J., Beighton, P. <strong>The natural history of sclerosteosis.</strong> Clin. Genet. 63: 192-197, 2003. Note: Erratum: Clin. Genet. 64: 176-177, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12694228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12694228</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00036.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12694228">Hamersma et al. (2003)</a> analyzed the course and complications of 63 individuals with sclerosteosis in South Africa who were seen over a 38-year period. Of these, 34 had died during the course of the survey, 24 from complications related to elevation of intracranial pressure as a result of calvarial overgrowth. The mean age of death was 33 years, with an even gender distribution. Facial palsy and deafness, as a result of cranial nerve entrapment, developed in childhood in 52 (82%) of affected individuals. Mandibular overgrowth was present in 46 (73%) adults and syndactyly in 48 (76%). In South Africa in 2002, 29 affected persons were alive, 10 being 20 years of age or younger. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12694228" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Stephen, L. X. G., Hamersma, H., Gardner, J., Beighton, P. <strong>Dental and oral manifestations of sclerosteosis.</strong> Int. Dent. J. 51: 287-290, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11570544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11570544</a>] [<a href="https://doi.org/10.1002/j.1875-595x.2001.tb00840.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11570544">Stephen et al. (2001)</a> reviewed the dental and oral manifestations of sclerosteosis on the basis of 8 patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11570544" 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>Sclerosteosis-1 is an autosomal recessive disorder (<a href="#8" class="mim-tip-reference" title="Brunkow, M. E., Gardner, J. C., Van Ness, J., Paeper, B. W., Kovacevich, B. R., Proll, S., Skonier, J. E., Zhao, L., Sabo, P. J., Fu, Y.-H., Alisch, R. S., Gillett, L., Colbert, T., Tacconi, P., Galas, D., Hamersma, H., Beighton, P., Mulligan, J. T. <strong>Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.</strong> Am. J. Hum. Genet. 68: 577-589, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11179006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11179006</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11179006[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/318811" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11179006">Brunkow et al., 2001</a>). Affected sibs were observed by <a href="#15" class="mim-tip-reference" title="Hirsch, I. S. <strong>Generalized osteitis fibrosa.</strong> Radiology 13: 44-84, 1929."None>Hirsch (1929)</a>, <a href="#10" class="mim-tip-reference" title="Falconer, A. W., Ryrie, B. J. <strong>Report on familial type of generalized osteo-sclerosis with report on pathological changes.</strong> Med. Press 195: 12-20, 1937."None>Falconer and Ryrie (1937)</a>, <a href="#14" class="mim-tip-reference" title="Higinbotham, N. L., Alexander, S. F. <strong>Osteopetrosis: four cases in one family.</strong> Am. J. Surg. 53: 444-454, 1941."None>Higinbotham and Alexander (1941)</a>, <a href="#16" class="mim-tip-reference" title="Kelley, C. H., Lawlah, J. W. <strong>Albers-Schonberg disease: a family survey.</strong> Radiology 47: 507-513, 1946.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20274620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20274620</a>] [<a href="https://doi.org/10.1148/47.5.507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20274620">Kelley and Lawlah (1946)</a>, <a href="#23" class="mim-tip-reference" title="Truswell, A. S. <strong>Osteopetrosis with syndactyly: a morphologic variant of Albers-Schonberg's disease.</strong> J. Bone Joint Surg. Br. 40B: 208-218, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13539104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13539104</a>]" pmid="13539104">Truswell (1958)</a> and <a href="#17" class="mim-tip-reference" title="Klintworth, G. K. <strong>Neurologic manifestations of osteopetrosis (Albers-Schonberg's disease).</strong> Neurology 13: 512-519, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14033572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14033572</a>] [<a href="https://doi.org/10.1212/wnl.13.6.512" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14033572">Klintworth (1963)</a>. Parental consanguinity was observed by <a href="#10" class="mim-tip-reference" title="Falconer, A. W., Ryrie, B. J. <strong>Report on familial type of generalized osteo-sclerosis with report on pathological changes.</strong> Med. Press 195: 12-20, 1937."None>Falconer and Ryrie (1937)</a> and by <a href="#23" class="mim-tip-reference" title="Truswell, A. S. <strong>Osteopetrosis with syndactyly: a morphologic variant of Albers-Schonberg's disease.</strong> J. Bone Joint Surg. Br. 40B: 208-218, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13539104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13539104</a>]" pmid="13539104">Truswell (1958)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20274620+11179006+14033572+13539104" 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>Sclerosteosis is unusually frequent in the Afrikaner population of South Africa, where <a href="#4" class="mim-tip-reference" title="Beighton, P., Cremin, B. J., Hamersma, H. <strong>The radiology of sclerosteosis.</strong> Brit. J. Radiol. 49: 934-939, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/188507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">188507</a>] [<a href="https://doi.org/10.1259/0007-1285-49-587-934" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="188507">Beighton et al. (1976)</a> estimated that 1 in 140 persons is a heterozygous carrier. The patient reported by <a href="#23" class="mim-tip-reference" title="Truswell, A. S. <strong>Osteopetrosis with syndactyly: a morphologic variant of Albers-Schonberg's disease.</strong> J. Bone Joint Surg. Br. 40B: 208-218, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13539104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13539104</a>]" pmid="13539104">Truswell (1958)</a> was of that origin, and <a href="#4" class="mim-tip-reference" title="Beighton, P., Cremin, B. J., Hamersma, H. <strong>The radiology of sclerosteosis.</strong> Brit. J. Radiol. 49: 934-939, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/188507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">188507</a>] [<a href="https://doi.org/10.1259/0007-1285-49-587-934" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="188507">Beighton et al. (1976)</a> studied 25 such patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=188507+13539104" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a highly consanguineous family, <a href="#11" class="mim-tip-reference" title="Freire de Paes Alves, A., Rubim, J. L. C., Cardoso, L., Rabelo, M. M. <strong>Sclerosteosis: a marker of Dutch ancestry?</strong> Rev. Brasil. Genet. 4: 825-834, 1982."None>Freire de Paes Alves et al. (1982)</a> observed affected aunt and niece. The authors pointed out that the disorder is rare in populations other than the Afrikaners of Dutch extraction, that their patients came from a small city in the state of Bahia, Brazil, and that Bahia and the bordering state of Pernambuco were invaded and occupied by the Dutch in the 17th century at the same time as the settlement of South Africa.</p>
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<p>Through a genomewide search with highly polymorphic microsatellite markers, <a href="#24" class="mim-tip-reference" title="Van Hul, W., Balemans, W., Van Hul, E., Dikkers, F. G., Obee, H., Stokroos, R. J., Hildering, P., Vanhoenacker, F., Van Camp, G., Willems, P. J. <strong>Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21.</strong> Am. J. Hum. Genet. 62: 391-399, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9463328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9463328</a>] [<a href="https://doi.org/10.1086/301721" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9463328">Van Hul et al. (1998)</a> mapped the gene responsible for van Buchem disease to 17q12-q21. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9463328" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Balemans, W., Van Den Ende, J., Paes-Alves, A. F., Dikkers, F. G., Willems, P. J., Vanhoenacker, F., de Almeida-Melo, N., Alves, C. F., Stratakis, C. A., Hill, S. C., Van Hul, W. <strong>Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21.</strong> Am. J. Hum. Genet. 64: 1661-1669, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10330353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10330353</a>] [<a href="https://doi.org/10.1086/302416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10330353">Balemans et al. (1999)</a> tested the hypothesis of <a href="#3" class="mim-tip-reference" title="Beighton, P., Barnard, A., Hamersma, H., van der Wouden, A. <strong>The syndromic status of sclerosteosis and van Buchem disease.</strong> Clin. Genet. 25: 175-181, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6323069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6323069</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1984.tb00481.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6323069">Beighton et al. (1984)</a> that sclerosteosis and van Buchem disease may be caused by mutations in the same gene. By 2-point linkage analysis in 2 consanguineous families with sclerosteosis, <a href="#1" class="mim-tip-reference" title="Balemans, W., Van Den Ende, J., Paes-Alves, A. F., Dikkers, F. G., Willems, P. J., Vanhoenacker, F., de Almeida-Melo, N., Alves, C. F., Stratakis, C. A., Hill, S. C., Van Hul, W. <strong>Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21.</strong> Am. J. Hum. Genet. 64: 1661-1669, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10330353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10330353</a>] [<a href="https://doi.org/10.1086/302416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10330353">Balemans et al. (1999)</a> assigned the locus for this disease to 17q12-q21, the same region where the van Buchem disease locus maps, providing genetic support for the hypothesis of allelism. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6323069+10330353" 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>Through homozygosity mapping followed by positional cloning in Afrikaner families, <a href="#8" class="mim-tip-reference" title="Brunkow, M. E., Gardner, J. C., Van Ness, J., Paeper, B. W., Kovacevich, B. R., Proll, S., Skonier, J. E., Zhao, L., Sabo, P. J., Fu, Y.-H., Alisch, R. S., Gillett, L., Colbert, T., Tacconi, P., Galas, D., Hamersma, H., Beighton, P., Mulligan, J. T. <strong>Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.</strong> Am. J. Hum. Genet. 68: 577-589, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11179006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11179006</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11179006[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/318811" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11179006">Brunkow et al. (2001)</a> found 2 independent mutations in a novel gene, termed SOST (<a href="/entry/605740">605740</a>). Affected Afrikaners were found to carry a nonsense mutation in the N terminus of the encoded protein (<a href="/entry/605740#0001">605740.0001</a>), whereas an unrelated affected person of Senegalese origin described by <a href="#22" class="mim-tip-reference" title="Tacconi, P., Ferrigno, P., Cocco, L., Cannas, A., Tamburini, G., Bergonzi, P., Giagheddu, M. <strong>Sclerosteosis: report of a case in a black African man.</strong> Clin. Genet. 53: 497-501, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9712543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9712543</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1998.tb02603.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9712543">Tacconi et al. (1998)</a> carried a splice mutation within the single intron of the gene (<a href="/entry/605740#0002">605740.0002</a>). <a href="#8" class="mim-tip-reference" title="Brunkow, M. E., Gardner, J. C., Van Ness, J., Paeper, B. W., Kovacevich, B. R., Proll, S., Skonier, J. E., Zhao, L., Sabo, P. J., Fu, Y.-H., Alisch, R. S., Gillett, L., Colbert, T., Tacconi, P., Galas, D., Hamersma, H., Beighton, P., Mulligan, J. T. <strong>Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.</strong> Am. J. Hum. Genet. 68: 577-589, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11179006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11179006</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11179006[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/318811" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11179006">Brunkow et al. (2001)</a> analyzed the SOST gene in 7 Dutch patients with van Buchem disease and detected no mutations in the coding region. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11179006+9712543" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Barnard1980" class="mim-tip-reference" title="Barnard, A. H., Hamersma, H., Kretzmar, J. H., Beighton, P. <strong>Sclerosteosis in old age.</strong> S. Afr. Med. J. 58: 401-403, 1980.">Barnard et al. (1980)</a>; <a href="#Beighton1977" class="mim-tip-reference" title="Beighton, P., Davidson, J., Durr, L., Hamersma, H. <strong>Sclerosteosis--an autosomal recessive disorder.</strong> Clin. Genet. 11: 1-7, 1977.">Beighton et al. (1977)</a>; <a href="#Beighton1976" class="mim-tip-reference" title="Beighton, P., Durr, L., Hamersma, H. <strong>The clinical features of sclerosteosis: a review of the manifestations in twenty-five affected individuals.</strong> Ann. Intern. Med. 84: 393-397, 1976.">Beighton et al.
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(1976)</a>; <a href="#Sugiura1975" class="mim-tip-reference" title="Sugiura, Y. <strong>Sclerosteosis.</strong> J. Bone Joint Surg. Am. 57: 273-276, 1975.">Sugiura (1975)</a>
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Balemans, W., Van Den Ende, J., Paes-Alves, A. F., Dikkers, F. G., Willems, P. J., Vanhoenacker, F., de Almeida-Melo, N., Alves, C. F., Stratakis, C. A., Hill, S. C., Van Hul, W.
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<strong>Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21.</strong>
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Am. J. Hum. Genet. 64: 1661-1669, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10330353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10330353</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10330353" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/302416" target="_blank">Full Text</a>]
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Barnard, A. H., Hamersma, H., Kretzmar, J. H., Beighton, P.
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<strong>Sclerosteosis in old age.</strong>
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S. Afr. Med. J. 58: 401-403, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7404164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7404164</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7404164" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Beighton, P., Barnard, A., Hamersma, H., van der Wouden, A.
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<strong>The syndromic status of sclerosteosis and van Buchem disease.</strong>
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Clin. Genet. 25: 175-181, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6323069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6323069</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6323069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1984.tb00481.x" target="_blank">Full Text</a>]
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Beighton, P., Cremin, B. J., Hamersma, H.
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<strong>The radiology of sclerosteosis.</strong>
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Brit. J. Radiol. 49: 934-939, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/188507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">188507</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=188507" 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/10.1259/0007-1285-49-587-934" target="_blank">Full Text</a>]
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<a id="Beighton1977" class="mim-anchor"></a>
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Beighton, P., Davidson, J., Durr, L., Hamersma, H.
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<strong>Sclerosteosis--an autosomal recessive disorder.</strong>
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Clin. Genet. 11: 1-7, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/187366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">187366</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=187366" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1977.tb01269.x" target="_blank">Full Text</a>]
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Beighton, P., Durr, L., Hamersma, H.
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<strong>The clinical features of sclerosteosis: a review of the manifestations in twenty-five affected individuals.</strong>
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Ann. Intern. Med. 84: 393-397, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1259284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1259284</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1259284" 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/10.7326/0003-4819-84-4-393" target="_blank">Full Text</a>]
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Beighton, P.
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<strong>Sclerosteosis.</strong>
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J. Med. Genet. 25: 200-203, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3351908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3351908</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3351908" 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.25.3.200" target="_blank">Full Text</a>]
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Brunkow, M. E., Gardner, J. C., Van Ness, J., Paeper, B. W., Kovacevich, B. R., Proll, S., Skonier, J. E., Zhao, L., Sabo, P. J., Fu, Y.-H., Alisch, R. S., Gillett, L., Colbert, T., Tacconi, P., Galas, D., Hamersma, H., Beighton, P., Mulligan, J. T.
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<strong>Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.</strong>
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Am. J. Hum. Genet. 68: 577-589, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11179006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11179006</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11179006[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=11179006" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/318811" target="_blank">Full Text</a>]
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Epstein, S., Hamersma, H., Beighton, P.
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<strong>Endocrine function in sclerosteosis.</strong>
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S. Afr. Med. J. 55: 1105-1110, 1979.
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[<a href="https://doi.org/10.1034/j.1399-0004.2003.00036.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.13.6.512" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0196-0709(83)80002-7" target="_blank">Full Text</a>]
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Stein, S. A., Witkop, C., Hill, S., Fallon, M. D., Viernstein, L., Gucer, G., McKeever, P., Long, D., Altman, J., Miller, N. R., Teitelbaum, S. L., Schlesinger, S.
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[<a href="https://doi.org/10.1212/wnl.33.3.267" target="_blank">Full Text</a>]
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<a id="Stephen2001" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1002/j.1875-595x.2001.tb00840.x" target="_blank">Full Text</a>]
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<a id="Truswell1958" class="mim-anchor"></a>
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Van Hul, W., Balemans, W., Van Hul, E., Dikkers, F. G., Obee, H., Stokroos, R. J., Hildering, P., Vanhoenacker, F., Van Camp, G., Willems, P. J.
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<a id="Witkop1965" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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<br />
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 10/24/2011
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 4/13/2004<br>Victor A. McKusick - updated : 4/22/2003<br>Victor A. McKusick - updated : 3/15/2001<br>Victor A. McKusick - updated : 5/25/1999<br>Victor A. McKusick - updated : 9/9/1998
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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carol : 07/13/2018
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carol : 01/17/2018<br>carol : 10/17/2016<br>carol : 04/14/2014<br>tpirozzi : 10/1/2013<br>carol : 10/25/2011<br>terry : 10/24/2011<br>terry : 10/24/2011<br>terry : 1/13/2011<br>terry : 6/12/2009<br>terry : 8/26/2008<br>terry : 3/3/2005<br>terry : 4/13/2004<br>cwells : 4/25/2003<br>terry : 4/22/2003<br>carol : 3/15/2001<br>terry : 3/15/2001<br>mgross : 6/7/1999<br>mgross : 6/1/1999<br>terry : 5/25/1999<br>alopez : 9/10/1998<br>terry : 9/9/1998<br>terry : 6/3/1998<br>alopez : 3/19/1997<br>terry : 2/7/1995<br>jason : 7/14/1994<br>mimadm : 4/13/1994<br>warfield : 3/10/1994<br>supermim : 3/17/1992<br>supermim : 3/20/1990
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<strong>#</strong> 269500
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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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SCLEROSTEOSIS 1; SOST1
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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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<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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SOST<br />
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CORTICAL HYPEROSTOSIS WITH SYNDACTYLY
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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-text-font">
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<strong>SNOMEDCT:</strong> 17568006;
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<strong>ORPHA:</strong> 3152;
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<strong>DO:</strong> 0060756;
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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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</thead>
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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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17q21.31
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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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Sclerosteosis 1
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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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269500
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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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SOST
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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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605740
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<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 sclerosteosis-1 (SOST1) is caused by homozygous mutation in the gene encoding sclerostin (SOST; 605740) on chromosome 17q21.</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>Description</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>Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001). </p><p><strong><em>Genetic Heterogeneity of Sclerosteosis</em></strong></p><p>
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Sclerosteosis-2 (SOST2; 614305) is caused by mutation in the LRP4 gene (604270) on chromosome 11p11.</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>Sclerosteosis is a term that was applied by Hansen (1967) to a disorder similar to van Buchem hyperostosis corticalis generalisata (239100) but differing in radiologic appearance of the bone changes and in the presence of asymmetric cutaneous syndactyly of the index and middle fingers in many cases. The jaw has an unusually square appearance in this condition.</p><p>The cases of Kelley and Lawlah (1946) and of Witkop (1965) were from an inbred triracial group in southern Maryland known as the 'We-Sorts.' Stein et al. (1983) provided a full report on the triracial Maryland kindred. They concluded that sclerosteosis is primarily a disorder of osteoblast hyperactivity. Syndactyly was present in 43 of 54 patients from 4 series; in the series of Stein et al. (1983), syndactyly was present in 4 of 5 patients in whom the relevant observations were recorded. </p><p>Epstein et al. (1979) could demonstrate no abnormality of pituitary function or of calcium homeostasis. </p><p>Beighton et al. (1984) examined 50 persons with sclerosteosis in the Afrikaner community of South Africa and 15 persons with van Buchem disease in Holland. The clinical and radiographic manifestations were very similar; the only notable difference was greater severity and syndactyly in most patients with sclerosteosis. Beighton et al. (1984) suggested that since the Afrikaners have Dutch antecedents, these 2 disorders may in fact be the same; modifying genes in the Afrikaner population may, they suggested, be responsible for the special features of sclerosteosis. Beighton (1988) reviewed sclerosteosis on the basis of the frequent cases observed in the Afrikaner population of South Africa. </p><p>Nager et al. (1983) reviewed clinical and radiologic aspects in detail and gave useful information on the changes in the temporal bones affecting hearing. Excessive height and weight are frequent in this condition. The terminal phalanges show radial deviation, and the fingernails tend to be dystrophic. Facial nerve paralysis may be present as early as birth or develop soon afterwards. It may be unilateral for many years. In some instances, anosmia, facial esthesia, optic nerve atrophy, convergent strabismus, and exophthalmos are present. Increased intracranial pressure may result from a combination of circumstances and may have led in several instances to sudden death from impaction of the brainstem in the foramen magnum. The patient studied by Nager et al. (1983) was related to the Maryland cases studied by Witkop (1965). </p><p>Tacconi et al. (1998) described sclerosteosis in a black man born in Senegal. He presented with full features of the disorder: tall stature, syndactyly, nail dysplasia, massive sclerosis of the long tubular bones, ribs, pelvis, and skull, and multiple cranial nerve involvement resulting in optic atrophy, facial palsy, and trigeminal neuralgia. </p><p>Hamersma et al. (2003) analyzed the course and complications of 63 individuals with sclerosteosis in South Africa who were seen over a 38-year period. Of these, 34 had died during the course of the survey, 24 from complications related to elevation of intracranial pressure as a result of calvarial overgrowth. The mean age of death was 33 years, with an even gender distribution. Facial palsy and deafness, as a result of cranial nerve entrapment, developed in childhood in 52 (82%) of affected individuals. Mandibular overgrowth was present in 46 (73%) adults and syndactyly in 48 (76%). In South Africa in 2002, 29 affected persons were alive, 10 being 20 years of age or younger. </p><p>Stephen et al. (2001) reviewed the dental and oral manifestations of sclerosteosis on the basis of 8 patients. </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>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Sclerosteosis-1 is an autosomal recessive disorder (Brunkow et al., 2001). Affected sibs were observed by Hirsch (1929), Falconer and Ryrie (1937), Higinbotham and Alexander (1941), Kelley and Lawlah (1946), Truswell (1958) and Klintworth (1963). Parental consanguinity was observed by Falconer and Ryrie (1937) and by Truswell (1958). </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>Population Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Sclerosteosis is unusually frequent in the Afrikaner population of South Africa, where Beighton et al. (1976) estimated that 1 in 140 persons is a heterozygous carrier. The patient reported by Truswell (1958) was of that origin, and Beighton et al. (1976) studied 25 such patients. </p><p>In a highly consanguineous family, Freire de Paes Alves et al. (1982) observed affected aunt and niece. The authors pointed out that the disorder is rare in populations other than the Afrikaners of Dutch extraction, that their patients came from a small city in the state of Bahia, Brazil, and that Bahia and the bordering state of Pernambuco were invaded and occupied by the Dutch in the 17th century at the same time as the settlement of South Africa.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>Through a genomewide search with highly polymorphic microsatellite markers, Van Hul et al. (1998) mapped the gene responsible for van Buchem disease to 17q12-q21. </p><p>Balemans et al. (1999) tested the hypothesis of Beighton et al. (1984) that sclerosteosis and van Buchem disease may be caused by mutations in the same gene. By 2-point linkage analysis in 2 consanguineous families with sclerosteosis, Balemans et al. (1999) assigned the locus for this disease to 17q12-q21, the same region where the van Buchem disease locus maps, providing genetic support for the hypothesis of allelism. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Through homozygosity mapping followed by positional cloning in Afrikaner families, Brunkow et al. (2001) found 2 independent mutations in a novel gene, termed SOST (605740). Affected Afrikaners were found to carry a nonsense mutation in the N terminus of the encoded protein (605740.0001), whereas an unrelated affected person of Senegalese origin described by Tacconi et al. (1998) carried a splice mutation within the single intron of the gene (605740.0002). Brunkow et al. (2001) analyzed the SOST gene in 7 Dutch patients with van Buchem disease and detected no mutations in the coding region. </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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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>See Also:</strong>
|
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</span>
|
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</h4>
|
|
<span class="mim-text-font">
|
|
Barnard et al. (1980); Beighton et al. (1977); Beighton et al.
|
|
(1976); Sugiura (1975)
|
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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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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
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</span>
|
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</h4>
|
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<div>
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<p />
|
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
|
Balemans, W., Van Den Ende, J., Paes-Alves, A. F., Dikkers, F. G., Willems, P. J., Vanhoenacker, F., de Almeida-Melo, N., Alves, C. F., Stratakis, C. A., Hill, S. C., Van Hul, W.
|
|
<strong>Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21.</strong>
|
|
Am. J. Hum. Genet. 64: 1661-1669, 1999.
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[PubMed: 10330353]
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[Full Text: https://doi.org/10.1086/302416]
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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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Barnard, A. H., Hamersma, H., Kretzmar, J. H., Beighton, P.
|
|
<strong>Sclerosteosis in old age.</strong>
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S. Afr. Med. J. 58: 401-403, 1980.
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[PubMed: 7404164]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Beighton, P., Barnard, A., Hamersma, H., van der Wouden, A.
|
|
<strong>The syndromic status of sclerosteosis and van Buchem disease.</strong>
|
|
Clin. Genet. 25: 175-181, 1984.
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[PubMed: 6323069]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1984.tb00481.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Beighton, P., Cremin, B. J., Hamersma, H.
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<strong>The radiology of sclerosteosis.</strong>
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Brit. J. Radiol. 49: 934-939, 1976.
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[PubMed: 188507]
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[Full Text: https://doi.org/10.1259/0007-1285-49-587-934]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Beighton, P., Davidson, J., Durr, L., Hamersma, H.
|
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<strong>Sclerosteosis--an autosomal recessive disorder.</strong>
|
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Clin. Genet. 11: 1-7, 1977.
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[PubMed: 187366]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1977.tb01269.x]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Beighton, P., Durr, L., Hamersma, H.
|
|
<strong>The clinical features of sclerosteosis: a review of the manifestations in twenty-five affected individuals.</strong>
|
|
Ann. Intern. Med. 84: 393-397, 1976.
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[PubMed: 1259284]
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[Full Text: https://doi.org/10.7326/0003-4819-84-4-393]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Beighton, P.
|
|
<strong>Sclerosteosis.</strong>
|
|
J. Med. Genet. 25: 200-203, 1988.
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[PubMed: 3351908]
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[Full Text: https://doi.org/10.1136/jmg.25.3.200]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Brunkow, M. E., Gardner, J. C., Van Ness, J., Paeper, B. W., Kovacevich, B. R., Proll, S., Skonier, J. E., Zhao, L., Sabo, P. J., Fu, Y.-H., Alisch, R. S., Gillett, L., Colbert, T., Tacconi, P., Galas, D., Hamersma, H., Beighton, P., Mulligan, J. T.
|
|
<strong>Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.</strong>
|
|
Am. J. Hum. Genet. 68: 577-589, 2001.
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|
[PubMed: 11179006]
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[Full Text: https://doi.org/10.1086/318811]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Epstein, S., Hamersma, H., Beighton, P.
|
|
<strong>Endocrine function in sclerosteosis.</strong>
|
|
S. Afr. Med. J. 55: 1105-1110, 1979.
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|
[PubMed: 225834]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Falconer, A. W., Ryrie, B. J.
|
|
<strong>Report on familial type of generalized osteo-sclerosis with report on pathological changes.</strong>
|
|
Med. Press 195: 12-20, 1937.
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|
|
</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Freire de Paes Alves, A., Rubim, J. L. C., Cardoso, L., Rabelo, M. M.
|
|
<strong>Sclerosteosis: a marker of Dutch ancestry?</strong>
|
|
Rev. Brasil. Genet. 4: 825-834, 1982.
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Hamersma, H., Gardner, J., Beighton, P.
|
|
<strong>The natural history of sclerosteosis.</strong>
|
|
Clin. Genet. 63: 192-197, 2003. Note: Erratum: Clin. Genet. 64: 176-177, 2003.
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|
[PubMed: 12694228]
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[Full Text: https://doi.org/10.1034/j.1399-0004.2003.00036.x]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Hansen, H. G.
|
|
<strong>Sklerosteose. In: Opitz, H.; Schmid, F.: Handbuch der Kinderheilkunde. Vol. 6.</strong>
|
|
Berlin: Springer (pub.) 1967. Pp. 351-355.
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</p>
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|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Higinbotham, N. L., Alexander, S. F.
|
|
<strong>Osteopetrosis: four cases in one family.</strong>
|
|
Am. J. Surg. 53: 444-454, 1941.
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Hirsch, I. S.
|
|
<strong>Generalized osteitis fibrosa.</strong>
|
|
Radiology 13: 44-84, 1929.
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|
</p>
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Stein, S. A., Witkop, C., Hill, S., Fallon, M. D., Viernstein, L., Gucer, G., McKeever, P., Long, D., Altman, J., Miller, N. R., Teitelbaum, S. L., Schlesinger, S.
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Stephen, L. X. G., Hamersma, H., Gardner, J., Beighton, P.
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<strong>Osteopetrosis with syndactyly: a morphologic variant of Albers-Schonberg's disease.</strong>
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Van Hul, W., Balemans, W., Van Hul, E., Dikkers, F. G., Obee, H., Stokroos, R. J., Hildering, P., Vanhoenacker, F., Van Camp, G., Willems, P. J.
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Witkop, C. J., Jr.
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<strong>Genetic disease of the oral cavity. In: Tiecke, R. W.: Oral Pathology.</strong>
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