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Entry
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- #123000 - CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD
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- OMIM
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<p>
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<span class="h4">#123000</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/123000"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS123000"> <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="#biochemicalFeatures">Biochemical Features</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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</a>
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</h4>
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</div>
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT" 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=1689&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/NBK1461/" 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/1975" 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/craniometaphyseal-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=123000[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=1522" 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/bac960ab-9c3e-43f0-9f80-537bd5344335/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080801" 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/123000" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<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>ORPHA:</strong> 1522<br />
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<strong>DO:</strong> 0080801<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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123000
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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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CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD
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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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CMD<br />
|
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CRANIOMETAPHYSEAL DYSPLASIA, JACKSON TYPE; CMDJ
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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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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</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/5/60?start=-3&limit=10&highlight=60">
|
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5p15.2
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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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Craniometaphyseal dysplasia
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/123000"> 123000 </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>
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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>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
ANKH
|
|
</span>
|
|
</td>
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605145"> 605145 </a>
|
|
</span>
|
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</td>
|
|
</tr>
|
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</tbody>
|
|
</table>
|
|
</div>
|
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</div>
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<div>
|
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|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/123000" 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">
|
|
|
|
<a href="/phenotypicSeries/PS123000" 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/123000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/123000" 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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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Normal stature <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846844&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846844</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> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Macrocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12138000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12138000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1145403003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1145403003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221355</a>, <a href="https://bioportal.bioontology.org/search?q=C2243051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2243051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001355</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Macrocephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" 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> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 /> -
|
|
Facial palsy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/280816001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">280816001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193093009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193093009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G51.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G51.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/351.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">351.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0376175&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0376175</a>, <a href="https://bioportal.bioontology.org/search?q=C0015469&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015469</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007209</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0010628" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010628</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010628" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010628</a>]</span><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">
|
|
|
|
- Mixed hearing loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/77507001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">77507001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.8</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.20</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0155552&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0155552</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000410" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000410</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000410" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000410</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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Bony paranasal bossing (often regresses with age) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852503&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852503</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004407</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">
|
|
|
|
- Teeth malalignment <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852504&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852504</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000692" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000692</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
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|
|
</div>
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|
|
</div>
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nasopharynx </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Nasal obstruction leading to mouth breathing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857509&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857509</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skull </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Sclerotic skull base <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851714&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851714</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002694" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002694</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002694" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002694</a>]</span><br /> -
|
|
Sclerotic calvarium <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852505&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852505</a>]</span><br /> -
|
|
Obliteration of sinuses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852506&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852506</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">
|
|
|
|
- Normal spine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855168</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">
|
|
|
|
- Normal pelvis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855169&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855169</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">
|
|
|
|
- Widened metaphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849039&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849039</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003016" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003016</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003016" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003016</a>]</span><br /> -
|
|
'Erlenmeyer flask' deformity of distal femur (childhood) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852507&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852507</a>]</span><br /> -
|
|
Club-shaped distal femur (adulthood) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852508&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006384" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006384</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Facial palsy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/280816001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">280816001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193093009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193093009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G51.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G51.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/351.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">351.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0376175&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0376175</a>, <a href="https://bioportal.bioontology.org/search?q=C0015469&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015469</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007209</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0010628" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010628</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010628" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010628</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- See <a href="/entry/218400">218400</a> for an autosomal recessive form caused by mutation in GJA1 (<a href="/entry/121014#0021">121014.0021</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the ANHK inorganic pyrophosphate transport regulator gene (ANKH, <a href="/entry/605145#0001">605145.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Craniometaphyseal dysplasia
|
|
- <a href="/phenotypicSeries/PS123000">PS123000</a>
|
|
- 2 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/60?start=-3&limit=10&highlight=60"> 5p15.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123000"> Craniometaphyseal dysplasia </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123000"> 123000 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605145"> ANKH </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605145"> 605145 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/820?start=-3&limit=10&highlight=820"> 6q22.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/218400"> Craniometaphyseal dysplasia, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/218400"> 218400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/121014"> GJA1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/121014"> 121014 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
|
|
|
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
|
|
<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimTextFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because of evidence that autosomal dominant craniometaphyseal dysplasia (CMDD) is caused by heterozygous mutation in the ANKH gene (<a href="/entry/605145">605145</a>) on chromosome 5p15.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
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<p>Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, which may finally result in hearing loss and facial palsy (summary by <a href="#16" class="mim-tip-reference" title="Nurnberg, P., Tinschert, S., Mrug, M., Hampe, J., Muller, C. R., Fuhrmann, E., Braun, H.-S., Reis, A. <strong>The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5q and is distinct from the growth hormone-receptor gene.</strong> Am. J. Hum. Genet. 61: 918-923, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382103</a>] [<a href="https://doi.org/10.1086/514880" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382103">Nurnberg et al., 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9382103" 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>The delineation of separate autosomal dominant and autosomal recessive (CMDR; <a href="/entry/218400">218400</a>) forms of CMD by <a href="#7" class="mim-tip-reference" title="Gorlin, R. J., Spranger, J., Koszalka, M. F. <strong>Genetic craniotubular bone dysplasias and hyperostoses: a critical analysis.</strong> Birth Defects Orig. Art. Ser. V (4): 79-95, 1969."None>Gorlin et al. (1969)</a> was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, while the recessive form is rare, severe, and possibly heterogeneous.</p>
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<p><a href="#3" class="mim-tip-reference" title="Beighton, P. <strong>Craniometaphyseal dysplasia (CMD), autosomal dominant form.</strong> J. Med. Genet. 32: 370-374, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7616544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7616544</a>] [<a href="https://doi.org/10.1136/jmg.32.5.370" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7616544">Beighton (1995)</a> pointed out that Peter Jackson, an English physician on the staff of Groote Schuur Hospital, University of Cape Town, collaborated with Fuller Albright at the Massachusetts General Hospital, Boston, in the disorders of osseous modeling (<a href="#10" class="mim-tip-reference" title="Jackson, W. P. U., Albright, F., Drewry, G., Hanelin, J., Rubin, M. I. <strong>Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. I. Familial metaphyseal dysplasia and craniometaphyseal dysplasia: their relation to leontiasis ossea and osteopetrosis: disorders of 'bone remodeling'.</strong> Arch. Intern. Med. 94: 871-885, 1954.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13217486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13217486</a>] [<a href="https://doi.org/10.1001/archinte.1954.00250060005001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13217486">Jackson et al., 1954</a>) and identified a specific syndrome that comprised dysplasia of the metaphyses, sclerosis of the base of the skull, and overgrowth of the craniofacial bones. They culled 5 previously reported cases and added 2 of their own, and they termed the condition craniometaphyseal dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13217486+7616544" 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="#17" class="mim-tip-reference" title="Podlaha, M., Kratochvil, L. <strong>Familial metaphyseal dysplasia: Pyle's disease.</strong> Fortschr. Roentgenstr. 98: 158-162, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13944163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13944163</a>]" pmid="13944163">Podlaha and Kratochvil (1963)</a> and <a href="#13" class="mim-tip-reference" title="Lejeune, E., Anjou, A., Bouvier, M., Robert, J., Vauzelle, J. L., Jeanneret, J. <strong>Dysplasie cranio-metaphysaire familiale.</strong> Rev. Rhum. 33: 714-726, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5973274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5973274</a>]" pmid="5973274">Lejeune et al. (1966)</a> observed that craniometaphyseal dysplasia differs from Pyle disease (metaphyseal dysplasia; <a href="/entry/265900">265900</a>) in the presence of conspicuous involvement of the craniofacial bones. Widening of the bridge of the nose develops and eventually leonine facies. Pressure on cranial nerves is responsible for a considerable part of the disability (facial palsy and mixed hearing loss). The cases in the family reported by <a href="#19" class="mim-tip-reference" title="Rimoin, D. L., Woodruff, S. L., Holman, B. L. <strong>Craniometaphyseal dysplasia (Pyle's disease): autosomal dominant inheritance in a large kindred.</strong> Birth Defects Orig. Art. Ser. V(4): 96-104, 1969."None>Rimoin et al. (1969)</a> and those reported by <a href="#22" class="mim-tip-reference" title="Spranger, J. W., Paulsen, K., Lehmann, W. <strong>Die kraniometaphysaere Dysplasie (Pyle).</strong> Z. Kinderheilk. 93: 64-79, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14322785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14322785</a>]" pmid="14322785">Spranger et al. (1965)</a> should be considered dominant craniometaphyseal dysplasia, reserving the term Pyle disease for the recessive disorder which is more nearly a 'pure' metaphyseal dysplasia with little or no craniofacial involvement. <a href="#23" class="mim-tip-reference" title="Spranger, J. W. <strong>Familial metaphyseal dysplasia? (Letter)</strong> Lancet 295: 475 only, 1970. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4195162/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4195162</a>] [<a href="https://doi.org/10.1016/s0140-6736(70)90102-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4195162">Spranger (1970)</a> reviewed the skull x-ray of Pyle's original case and failed to find the intense increase in bone density characteristic of craniometaphyseal dysplasia. Furthermore the metaphyseal flare is notably abrupt in Pyle disease, producing the 'Erlenmeyer flask' deformity, and is milder ('club-like') in craniometaphyseal dysplasia. The same family was reported by <a href="#19" class="mim-tip-reference" title="Rimoin, D. L., Woodruff, S. L., Holman, B. L. <strong>Craniometaphyseal dysplasia (Pyle's disease): autosomal dominant inheritance in a large kindred.</strong> Birth Defects Orig. Art. Ser. V(4): 96-104, 1969."None>Rimoin et al. (1969)</a> and by <a href="#6" class="mim-tip-reference" title="Gladney, J. H., Monteleone, P. L. <strong>Metaphyseal dysplasia.</strong> Lancet 295: 44-45, 1970. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4194833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4194833</a>] [<a href="https://doi.org/10.1016/s0140-6736(70)92508-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4194833">Gladney and Monteleone (1970)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14322785+13944163+4195162+5973274+4194833" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Stool, S. E., Caruso, V. G. <strong>Cranial metaphyseal dysplasia.</strong> Arch. Otolaryng. 97: 410-412, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4703537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4703537</a>] [<a href="https://doi.org/10.1001/archotol.1973.00780010422014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4703537">Stool and Caruso (1973)</a> observed affected father and 15-month-old daughter. Both had peripheral facial palsy and the father was profoundly deaf. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4703537" 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="#25" class="mim-tip-reference" title="Taylor, D. B., Sprague, P. <strong>Dominant craniometaphyseal dysplasia: a family study over five generations.</strong> Australas. Radiol. 33: 84-89, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2712793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2712793</a>] [<a href="https://doi.org/10.1111/j.1440-1673.1989.tb03242.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2712793">Taylor and Sprague (1989)</a> described an Australian kindred with 9 affected persons in 4 generations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2712793" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Kornak, U., Brancati, F., Le Merrer, M., Lichtenbelt, K., Hohne, W., Tinschert, S., Garaci, F. G., Dallapiccola, B., Nurnberg, P. <strong>Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.</strong> Am. J. Med. Genet. 152A: 870-874, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20358596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20358596</a>] [<a href="https://doi.org/10.1002/ajmg.a.33301" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20358596">Kornak et al. (2010)</a> reported 3 unrelated patients with craniometaphyseal dysplasia and no family history of the disorder. All had typical features of the disorder, with macrocephaly, hypertelorism, skull hyperostosis, paranasal bossing, teeth crowding, and metaphyseal flaring. The first patient, who was the most severely affected, was a French boy who developed hearing loss and bilateral facial palsy soon after birth. He had severe sclerosis of the skull base, orbits, maxilla, and mandible, with almost complete obstruction of the sinuses. There was rapid worsening of the bone phenotype in the first years of life. The second patient was a 24-year-old man from the Netherlands who presented with progressive conductive and sensorineural hearing loss and was found to have typical features of the disorder, with unilateral facial palsy apparent in infancy, macrocephaly, and teeth crowding. The third patient was a 43-year-old Italian man with typical manifestations of CMD, including sclerosis of the skull base and maxilla, hyperostotic but not sclerotic mandible, and partially obstructed sinuses, but without cranial nerve compression. He also had narrowing of the middle ear cavities with bilateral fixation of the body of the incus to the lateral attic, resulting in conductive deafness and tinnitus. These middle ear manifestations were similar to those observed in postinflammatory ossicular fixation secondary to acute or chronic otitis media. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20358596" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of CMDD in the families reported by <a href="#15" class="mim-tip-reference" title="Nurnberg, P., Thiele, H., Chandler, D., Hohne, W., Cunningham, M. L., Ritter, H., Leschik, G., Uhlmann, K., Mischung, C., Harrop, K., Goldblatt, J., Borochowitz, Z. U., Kotzot, D., Westermann, F., Mundlos, S., Braun, H.-S., Laing, N., Tinschert, S. <strong>Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.</strong> Nature Genet. 28: 37-41, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11326272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11326272</a>] [<a href="https://doi.org/10.1038/ng0501-37" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11326272">Nurnberg et al. (2001)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11326272" 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>The heterozygous mutations in the ANKH gene that were identified by <a href="#18" class="mim-tip-reference" title="Reichenberger, E., Tiziani, V., Watanabe, S., Park, L., Ueki, Y., Santanna, C., Baur, S. T., Shiang, R., Grange, D. K., Beighton, P., Gardner, J., Hamersma, H., Sellars, S., Ramesar, R., Lidral, A. C., Sommer, A., Raposo do Amaral, C. M., Gorlin, R. J., Mulliken, J. B., Olsen, B. R. <strong>Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK.</strong> Am. J. Hum. Genet. 68: 1321-1326, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11326338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11326338</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11326338[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/10.1086/320612" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11326338">Reichenberger et al. (2001)</a> in 2 patients with CMDD occurred de novo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11326338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using osteoclast-like cells formed from a 3-year-old patient's bone marrow cells in culture, <a href="#26" class="mim-tip-reference" title="Yamamoto, T., Kurihara, N., Yamaoka, K., Ozono, K., Okada, M., Yamamoto, K., Matsumoto, S., Michigami, T., Ono, J., Okada, S. <strong>Bone marrow-derived osteoclast-like cells from a patient with craniometaphyseal dysplasia lack expression of osteoclast-reactive vacuolar proton pump.</strong> J. Clin. Invest. 91: 362-367, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7678608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7678608</a>] [<a href="https://doi.org/10.1172/JCI116194" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7678608">Yamamoto et al. (1993)</a> investigated the pathophysiology of craniometaphyseal dysplasia. The quantitative formation of osteoclast-like cells, as identified by the presence of vitronectin beta-receptors, was only 40% of normal. Studies using a monoclonal antibody, E11, demonstrated that these cells from the patient lacked the osteoclast-reactive vacuolar proton pump. <a href="#12" class="mim-tip-reference" title="Kurihara, N., Gluck, S., Roodman, G. D. <strong>Sequential expression of phenotype markers for osteoclasts during differentiation of precursors for multinucleated cells formed in long-term human marrow cultures.</strong> Endocrinology 127: 3215-3221, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1701138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1701138</a>] [<a href="https://doi.org/10.1210/endo-127-6-3215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1701138">Kurihara et al. (1990)</a> had found that this osteoclast-reactive vacuolar proton pump is expressed in osteoclasts during differentiation. <a href="#21" class="mim-tip-reference" title="Soriano, P., Montgomery, C., Geske, R., Bradley, A. <strong>Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice.</strong> Cell 64: 693-702, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1997203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1997203</a>] [<a href="https://doi.org/10.1016/0092-8674(91)90499-o" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1997203">Soriano et al. (1991)</a> found that disruption of the SRC gene in transgenic mice resulted in osteopetrosis; see <a href="/entry/190090">190090</a>. <a href="#26" class="mim-tip-reference" title="Yamamoto, T., Kurihara, N., Yamaoka, K., Ozono, K., Okada, M., Yamamoto, K., Matsumoto, S., Michigami, T., Ono, J., Okada, S. <strong>Bone marrow-derived osteoclast-like cells from a patient with craniometaphyseal dysplasia lack expression of osteoclast-reactive vacuolar proton pump.</strong> J. Clin. Invest. 91: 362-367, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7678608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7678608</a>] [<a href="https://doi.org/10.1172/JCI116194" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7678608">Yamamoto et al. (1993)</a> found, however, that SRC expression in the platelets of their patient was comparable to that in the normal control. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7678608+1701138+1997203" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a large German kindred with CMD, <a href="#16" class="mim-tip-reference" title="Nurnberg, P., Tinschert, S., Mrug, M., Hampe, J., Muller, C. R., Fuhrmann, E., Braun, H.-S., Reis, A. <strong>The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5q and is distinct from the growth hormone-receptor gene.</strong> Am. J. Hum. Genet. 61: 918-923, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382103</a>] [<a href="https://doi.org/10.1086/514880" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382103">Nurnberg et al. (1997)</a> found tight linkage between the disorder and microsatellite markers on 5p in the region 5p15.2-p14.1. This region overlaps with the mapping interval of the growth hormone receptor gene (GHR; <a href="/entry/600946">600946</a>), or at least is in the neighborhood of the GHR gene, the location of which was given by the authors as 5p14-p12. GHR is known to be involved in the mitogenic activation of osteoblasts. Testing GHR as a candidate gene, <a href="#16" class="mim-tip-reference" title="Nurnberg, P., Tinschert, S., Mrug, M., Hampe, J., Muller, C. R., Fuhrmann, E., Braun, H.-S., Reis, A. <strong>The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5q and is distinct from the growth hormone-receptor gene.</strong> Am. J. Hum. Genet. 61: 918-923, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382103</a>] [<a href="https://doi.org/10.1086/514880" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382103">Nurnberg et al. (1997)</a> found recombination events between CMD and GHR in 2 members of the family, thus excluding GHR as a candidate. In the family studied by <a href="#16" class="mim-tip-reference" title="Nurnberg, P., Tinschert, S., Mrug, M., Hampe, J., Muller, C. R., Fuhrmann, E., Braun, H.-S., Reis, A. <strong>The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5q and is distinct from the growth hormone-receptor gene.</strong> Am. J. Hum. Genet. 61: 918-923, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382103</a>] [<a href="https://doi.org/10.1086/514880" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382103">Nurnberg et al. (1997)</a>, there were 24 affected persons in 6 generations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9382103" 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="#5" class="mim-tip-reference" title="Chandler, D., Tinschert, S., Lohan, K., Harrop, K., Goldblatt, J., Nagy, M., Hummel, S., Braun, H.-S., Laing, N., Nurnberg, P. <strong>Refinement of the chromosome 5p locus for craniometaphyseal dysplasia.</strong> Hum. Genet. 108: 394-397, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11409866/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11409866</a>] [<a href="https://doi.org/10.1007/s004390100515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11409866">Chandler et al. (2001)</a> confirmed the linkage mapping of the CMDJ locus to 5p15.2-p14.1 in a large Australian pedigree and a second German family. Using recombinants, they narrowed the critical region to an interval of approximately 4 cM. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11409866" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#15" class="mim-tip-reference" title="Nurnberg, P., Thiele, H., Chandler, D., Hohne, W., Cunningham, M. L., Ritter, H., Leschik, G., Uhlmann, K., Mischung, C., Harrop, K., Goldblatt, J., Borochowitz, Z. U., Kotzot, D., Westermann, F., Mundlos, S., Braun, H.-S., Laing, N., Tinschert, S. <strong>Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.</strong> Nature Genet. 28: 37-41, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11326272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11326272</a>] [<a href="https://doi.org/10.1038/ng0501-37" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11326272">Nurnberg et al. (2001)</a> tested ANKH (<a href="/entry/605145">605145</a>) as a positional candidate in 9 unrelated families and demonstrated 6 different mutations in 8 of the families (e.g., <a href="/entry/605145#0001">605145.0001</a>-<a href="/entry/605145#0003">605145.0003</a>). In 5 different families and in isolated cases, <a href="#18" class="mim-tip-reference" title="Reichenberger, E., Tiziani, V., Watanabe, S., Park, L., Ueki, Y., Santanna, C., Baur, S. T., Shiang, R., Grange, D. K., Beighton, P., Gardner, J., Hamersma, H., Sellars, S., Ramesar, R., Lidral, A. C., Sommer, A., Raposo do Amaral, C. M., Gorlin, R. J., Mulliken, J. B., Olsen, B. R. <strong>Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK.</strong> Am. J. Hum. Genet. 68: 1321-1326, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11326338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11326338</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11326338[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/10.1086/320612" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11326338">Reichenberger et al. (2001)</a> described mutations in the ANKH gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11326338+11326272" 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 3 unrelated patients with craniometaphyseal dysplasia and no family history of the disorder, <a href="#11" class="mim-tip-reference" title="Kornak, U., Brancati, F., Le Merrer, M., Lichtenbelt, K., Hohne, W., Tinschert, S., Garaci, F. G., Dallapiccola, B., Nurnberg, P. <strong>Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.</strong> Am. J. Med. Genet. 152A: 870-874, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20358596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20358596</a>] [<a href="https://doi.org/10.1002/ajmg.a.33301" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20358596">Kornak et al. (2010)</a> identified 3 different heterozygous mutations in the ANKH gene (<a href="/entry/605145#0011">605145.0011</a>-<a href="/entry/605145#0013">605145.0013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20358596" 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 large 4-generation Australian family with craniometaphyseal dysplasia, originally described by <a href="#25" class="mim-tip-reference" title="Taylor, D. B., Sprague, P. <strong>Dominant craniometaphyseal dysplasia: a family study over five generations.</strong> Australas. Radiol. 33: 84-89, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2712793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2712793</a>] [<a href="https://doi.org/10.1111/j.1440-1673.1989.tb03242.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2712793">Taylor and Sprague (1989)</a> and in which <a href="#15" class="mim-tip-reference" title="Nurnberg, P., Thiele, H., Chandler, D., Hohne, W., Cunningham, M. L., Ritter, H., Leschik, G., Uhlmann, K., Mischung, C., Harrop, K., Goldblatt, J., Borochowitz, Z. U., Kotzot, D., Westermann, F., Mundlos, S., Braun, H.-S., Laing, N., Tinschert, S. <strong>Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.</strong> Nature Genet. 28: 37-41, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11326272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11326272</a>] [<a href="https://doi.org/10.1038/ng0501-37" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11326272">Nurnberg et al. (2001)</a> identified a heterozygous missense mutation in the ANKH gene (G389R; <a href="/entry/605145#0002">605145.0002</a>), <a href="#1" class="mim-tip-reference" title="Baynam, G., Goldblatt, J., Schofield, L. <strong>Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation. (Letter)</strong> Am. J. Med. Genet. 149A: 1331-1333, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19449425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19449425</a>] [<a href="https://doi.org/10.1002/ajmg.a.32875" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19449425">Baynam et al. (2009)</a> found evidence for chondrocalcinosis segregating with CMDD in affected female family members. Although a chance association of chondrocalcinosis with CMDD could not be excluded, <a href="#1" class="mim-tip-reference" title="Baynam, G., Goldblatt, J., Schofield, L. <strong>Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation. (Letter)</strong> Am. J. Med. Genet. 149A: 1331-1333, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19449425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19449425</a>] [<a href="https://doi.org/10.1002/ajmg.a.32875" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19449425">Baynam et al. (2009)</a> suggested that the lack of joint symptoms in affected male family members might be due to involvement of sex-dependent mechanisms or to the fact that only mutation-positive women in the pedigree had reached the age at which the chondrocalcinosis phenotype typically expresses. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2712793+11326272+19449425" 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="#Beighton1979" class="mim-tip-reference" title="Beighton, P., Hamersma, H., Horan, F. <strong>Craniometaphyseal dysplasia--variability of expression within a large family.</strong> Clin. Genet. 15: 252-258, 1979.">Beighton et al. (1979)</a>; <a href="#Carnevale1983" class="mim-tip-reference" title="Carnevale, A., Grether, P., del Castillo, V., Takenaga, R., Orzechowski, A. <strong>Autosomal dominant craniometaphyseal dysplasia: clinical variability.</strong> Clin. Genet. 23: 17-22, 1983.">Carnevale et al. (1983)</a>; <a href="#Hassler1959" class="mim-tip-reference" title="Hassler, R. <strong>Familiaere kranio-metaphysaere Dysplasie.</strong> Fortschr. Roentgenstr. 90: 704-713, 1959.">Hassler (1959)</a>; <a href="#Holt1966" class="mim-tip-reference" title="Holt, J. F. <strong>The evolution of cranio-metaphyseal dysplasia.</strong> Ann. Radiol. 9: 209-214, 1966.">Holt
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(1966)</a>; <a href="#Mori1956" class="mim-tip-reference" title="Mori, P. A., Holt, J. F. <strong>Cranial manifestations of familial metaphyseal dysplasia.</strong> Radiology 66: 335-343, 1956.">Mori and Holt (1956)</a>; <a href="#Shea1981" class="mim-tip-reference" title="Shea, J., Gerbe, R., Ayani, N. <strong>Craniometaphyseal dysplasia: the first successful surgical treatment for associated hearing loss.</strong> Laryngoscope 91: 1369-1374, 1981.">Shea et al. (1981)</a>
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Baynam, G., Goldblatt, J., Schofield, L.
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<strong>Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation. (Letter)</strong>
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Am. J. Med. Genet. 149A: 1331-1333, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19449425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19449425</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19449425" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32875" target="_blank">Full Text</a>]
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Beighton, P., Hamersma, H., Horan, F.
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<strong>Craniometaphyseal dysplasia--variability of expression within a large family.</strong>
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Clin. Genet. 15: 252-258, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/421364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">421364</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=421364" 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.1399-0004.1979.tb00976.x" target="_blank">Full Text</a>]
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Beighton, P.
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<strong>Craniometaphyseal dysplasia (CMD), autosomal dominant form.</strong>
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J. Med. Genet. 32: 370-374, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7616544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7616544</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7616544" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Carnevale, A., Grether, P., del Castillo, V., Takenaga, R., Orzechowski, A.
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<strong>Autosomal dominant craniometaphyseal dysplasia: clinical variability.</strong>
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Clin. Genet. 23: 17-22, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6831758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6831758</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6831758" 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.1399-0004.1983.tb00431.x" target="_blank">Full Text</a>]
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Chandler, D., Tinschert, S., Lohan, K., Harrop, K., Goldblatt, J., Nagy, M., Hummel, S., Braun, H.-S., Laing, N., Nurnberg, P.
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<strong>Refinement of the chromosome 5p locus for craniometaphyseal dysplasia.</strong>
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Hum. Genet. 108: 394-397, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11409866/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11409866</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11409866" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s004390100515" target="_blank">Full Text</a>]
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Gladney, J. H., Monteleone, P. L.
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<strong>Metaphyseal dysplasia.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2712793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2712793</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2712793" 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.1440-1673.1989.tb03242.x" target="_blank">Full Text</a>]
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<a id="26" class="mim-anchor"></a>
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<a id="Yamamoto1993" class="mim-anchor"></a>
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<div class="">
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Yamamoto, T., Kurihara, N., Yamaoka, K., Ozono, K., Okada, M., Yamamoto, K., Matsumoto, S., Michigami, T., Ono, J., Okada, S.
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<strong>Bone marrow-derived osteoclast-like cells from a patient with craniometaphyseal dysplasia lack expression of osteoclast-reactive vacuolar proton pump.</strong>
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J. Clin. Invest. 91: 362-367, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7678608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7678608</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7678608" 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/10.1172/JCI116194" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 11/9/2012
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Cassandra L. Kniffin - updated : 11/10/2010<br>Victor A. McKusick - updated : 6/20/2001<br>Victor A. McKusick - updated : 5/31/2001<br>Victor A. McKusick - updated : 4/18/2001<br>Victor A. McKusick - updated : 10/17/1997
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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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alopez : 04/04/2024
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alopez : 04/04/2024<br>carol : 09/24/2020<br>carol : 11/12/2012<br>terry : 11/9/2012<br>wwang : 11/15/2010<br>ckniffin : 11/10/2010<br>carol : 7/9/2010<br>terry : 2/3/2009<br>terry : 1/12/2009<br>cwells : 7/2/2001<br>terry : 6/20/2001<br>cwells : 6/6/2001<br>cwells : 6/1/2001<br>terry : 5/31/2001<br>alopez : 4/27/2001<br>terry : 4/18/2001<br>carol : 12/19/2000<br>mark : 1/19/1998<br>jenny : 10/21/1997<br>terry : 10/17/1997<br>mark : 3/13/1996<br>terry : 7/10/1995<br>mark : 6/21/1995<br>mimadm : 6/25/1994<br>carol : 2/18/1993<br>carol : 3/31/1992<br>supermim : 3/16/1992
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<span class="mim-font">
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<strong>#</strong> 123000
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CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD
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<em>Alternative titles; symbols</em>
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CMD<br />
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CRANIOMETAPHYSEAL DYSPLASIA, JACKSON TYPE; CMDJ
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<strong>ORPHA:</strong> 1522;
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<strong>DO:</strong> 0080801;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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</th>
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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5p15.2
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<span class="mim-font">
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Craniometaphyseal dysplasia
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<span class="mim-font">
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123000
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<td>
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<span class="mim-font">
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Autosomal dominant
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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ANKH
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<span class="mim-font">
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605145
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant craniometaphyseal dysplasia (CMDD) is caused by heterozygous mutation in the ANKH gene (605145) on chromosome 5p15.</p>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, which may finally result in hearing loss and facial palsy (summary by Nurnberg et al., 1997). </p><p>The delineation of separate autosomal dominant and autosomal recessive (CMDR; 218400) forms of CMD by Gorlin et al. (1969) was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, while the recessive form is rare, severe, and possibly heterogeneous.</p>
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>Beighton (1995) pointed out that Peter Jackson, an English physician on the staff of Groote Schuur Hospital, University of Cape Town, collaborated with Fuller Albright at the Massachusetts General Hospital, Boston, in the disorders of osseous modeling (Jackson et al., 1954) and identified a specific syndrome that comprised dysplasia of the metaphyses, sclerosis of the base of the skull, and overgrowth of the craniofacial bones. They culled 5 previously reported cases and added 2 of their own, and they termed the condition craniometaphyseal dysplasia. </p><p>Podlaha and Kratochvil (1963) and Lejeune et al. (1966) observed that craniometaphyseal dysplasia differs from Pyle disease (metaphyseal dysplasia; 265900) in the presence of conspicuous involvement of the craniofacial bones. Widening of the bridge of the nose develops and eventually leonine facies. Pressure on cranial nerves is responsible for a considerable part of the disability (facial palsy and mixed hearing loss). The cases in the family reported by Rimoin et al. (1969) and those reported by Spranger et al. (1965) should be considered dominant craniometaphyseal dysplasia, reserving the term Pyle disease for the recessive disorder which is more nearly a 'pure' metaphyseal dysplasia with little or no craniofacial involvement. Spranger (1970) reviewed the skull x-ray of Pyle's original case and failed to find the intense increase in bone density characteristic of craniometaphyseal dysplasia. Furthermore the metaphyseal flare is notably abrupt in Pyle disease, producing the 'Erlenmeyer flask' deformity, and is milder ('club-like') in craniometaphyseal dysplasia. The same family was reported by Rimoin et al. (1969) and by Gladney and Monteleone (1970). </p><p>Stool and Caruso (1973) observed affected father and 15-month-old daughter. Both had peripheral facial palsy and the father was profoundly deaf. </p><p>Taylor and Sprague (1989) described an Australian kindred with 9 affected persons in 4 generations. </p><p>Kornak et al. (2010) reported 3 unrelated patients with craniometaphyseal dysplasia and no family history of the disorder. All had typical features of the disorder, with macrocephaly, hypertelorism, skull hyperostosis, paranasal bossing, teeth crowding, and metaphyseal flaring. The first patient, who was the most severely affected, was a French boy who developed hearing loss and bilateral facial palsy soon after birth. He had severe sclerosis of the skull base, orbits, maxilla, and mandible, with almost complete obstruction of the sinuses. There was rapid worsening of the bone phenotype in the first years of life. The second patient was a 24-year-old man from the Netherlands who presented with progressive conductive and sensorineural hearing loss and was found to have typical features of the disorder, with unilateral facial palsy apparent in infancy, macrocephaly, and teeth crowding. The third patient was a 43-year-old Italian man with typical manifestations of CMD, including sclerosis of the skull base and maxilla, hyperostotic but not sclerotic mandible, and partially obstructed sinuses, but without cranial nerve compression. He also had narrowing of the middle ear cavities with bilateral fixation of the body of the incus to the lateral attic, resulting in conductive deafness and tinnitus. These middle ear manifestations were similar to those observed in postinflammatory ossicular fixation secondary to acute or chronic otitis media. </p>
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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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<span class="mim-text-font">
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<p>The transmission pattern of CMDD in the families reported by Nurnberg et al. (2001) was consistent with autosomal dominant inheritance. </p><p>The heterozygous mutations in the ANKH gene that were identified by Reichenberger et al. (2001) in 2 patients with CMDD occurred de novo. </p>
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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>Biochemical Features</strong>
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</div>
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<span class="mim-text-font">
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<p>Using osteoclast-like cells formed from a 3-year-old patient's bone marrow cells in culture, Yamamoto et al. (1993) investigated the pathophysiology of craniometaphyseal dysplasia. The quantitative formation of osteoclast-like cells, as identified by the presence of vitronectin beta-receptors, was only 40% of normal. Studies using a monoclonal antibody, E11, demonstrated that these cells from the patient lacked the osteoclast-reactive vacuolar proton pump. Kurihara et al. (1990) had found that this osteoclast-reactive vacuolar proton pump is expressed in osteoclasts during differentiation. Soriano et al. (1991) found that disruption of the SRC gene in transgenic mice resulted in osteopetrosis; see 190090. Yamamoto et al. (1993) found, however, that SRC expression in the platelets of their patient was comparable to that in the normal control. </p>
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</span>
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<div>
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<br />
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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>In a large German kindred with CMD, Nurnberg et al. (1997) found tight linkage between the disorder and microsatellite markers on 5p in the region 5p15.2-p14.1. This region overlaps with the mapping interval of the growth hormone receptor gene (GHR; 600946), or at least is in the neighborhood of the GHR gene, the location of which was given by the authors as 5p14-p12. GHR is known to be involved in the mitogenic activation of osteoblasts. Testing GHR as a candidate gene, Nurnberg et al. (1997) found recombination events between CMD and GHR in 2 members of the family, thus excluding GHR as a candidate. In the family studied by Nurnberg et al. (1997), there were 24 affected persons in 6 generations. </p><p>Chandler et al. (2001) confirmed the linkage mapping of the CMDJ locus to 5p15.2-p14.1 in a large Australian pedigree and a second German family. Using recombinants, they narrowed the critical region to an interval of approximately 4 cM. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Nurnberg et al. (2001) tested ANKH (605145) as a positional candidate in 9 unrelated families and demonstrated 6 different mutations in 8 of the families (e.g., 605145.0001-605145.0003). In 5 different families and in isolated cases, Reichenberger et al. (2001) described mutations in the ANKH gene. </p><p>In 3 unrelated patients with craniometaphyseal dysplasia and no family history of the disorder, Kornak et al. (2010) identified 3 different heterozygous mutations in the ANKH gene (605145.0011-605145.0013). </p><p>In a large 4-generation Australian family with craniometaphyseal dysplasia, originally described by Taylor and Sprague (1989) and in which Nurnberg et al. (2001) identified a heterozygous missense mutation in the ANKH gene (G389R; 605145.0002), Baynam et al. (2009) found evidence for chondrocalcinosis segregating with CMDD in affected female family members. Although a chance association of chondrocalcinosis with CMDD could not be excluded, Baynam et al. (2009) suggested that the lack of joint symptoms in affected male family members might be due to involvement of sex-dependent mechanisms or to the fact that only mutation-positive women in the pedigree had reached the age at which the chondrocalcinosis phenotype typically expresses. </p>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
|
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Beighton et al. (1979); Carnevale et al. (1983); Hassler (1959); Holt
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(1966); Mori and Holt (1956); Shea et al. (1981)
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</span>
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<br />
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<li>
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<p class="mim-text-font">
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Baynam, G., Goldblatt, J., Schofield, L.
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Yamamoto, T., Kurihara, N., Yamaoka, K., Ozono, K., Okada, M., Yamamoto, K., Matsumoto, S., Michigami, T., Ono, J., Okada, S.
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<strong>Bone marrow-derived osteoclast-like cells from a patient with craniometaphyseal dysplasia lack expression of osteoclast-reactive vacuolar proton pump.</strong>
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