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<title>
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- #119600 - CLEIDOCRANIAL DYSPLASIA 1; CLCD1
- OMIM
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<span class="h4">#119600</span>
<br />
<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/119600"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#otherFeatures">Other Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=CLEIDOCRANIAL DYSPLASIA" 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/OC_Exp.php?lng=EN&Expert=1452" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/0683586f-2c42-4908-abb5-c1d4b8186813/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:13994" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/119600" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:13994" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:119600" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 65976001<br />
<strong>ICD10CM:</strong> Q74.0<br />
<strong>ORPHA:</strong> 1452<br />
<strong>DO:</strong> 13994<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
119600
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
CLEIDOCRANIAL DYSPLASIA 1; CLCD1
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
CLCD<br />
CLEIDOCRANIAL DYSOSTOSIS; CCD
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="includedTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
Other entities represented in this entry:
</span>
</p>
</div>
<div>
<span class="h3 mim-font">
CLEIDOCRANIAL DYSPLASIA 1, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED
</span>
</div>
<div>
<span class="h4 mim-font">
CLEIDOCRANIAL DYSPLASIA 1, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED
</span>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/548?start=-3&limit=10&highlight=548">
6p21.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Cleidocranial dysplasia, forme fruste, with brachydactyly
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/119600"> 119600 </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">
RUNX2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600211"> 600211 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/548?start=-3&limit=10&highlight=548">
6p21.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Cleidocranial dysplasia
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/119600"> 119600 </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">
RUNX2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600211"> 600211 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/548?start=-3&limit=10&highlight=548">
6p21.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Cleidocranial dysplasia, forme fruste, dental anomalies only
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/119600"> 119600 </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">
RUNX2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600211"> 600211 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/119600" 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>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/119600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/119600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short stature, moderate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861519&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861519</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008848" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008848</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008848" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008848</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">
- Delayed fontanelle closure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/82779003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">82779003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0277828&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0277828</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000270</a>]</span><br /> -
Parietal bossing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857126&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857126</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000242" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000242</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000242" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000242</a>]</span><br /> -
Anterior fontanelle open in adults <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849537&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849537</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004474" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004474</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004474" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004474</a>]</span><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">
- Frontal bossing <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90145001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90145001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221354</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Frontal_Bossing-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Metopic groove <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861521&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861521</a>]</span><br /> -
Midface hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853242&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853242</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011800</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011800</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=f0adae8ae2dc0ad9ed28c3c3e0e8f8a9" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Midface_Retrusion-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=f0adae8ae2dc0ad9ed28c3c3e0e8f8a9&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Micrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Micrognathia-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Deafness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/343087000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">343087000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H91.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018772</a>, <a href="https://bioportal.bioontology.org/search?q=C0011053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011053</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</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="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><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">
- Low nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836542&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836542</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nasal_Bridge,Depressed-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cleft palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837218</a>, <a href="https://bioportal.bioontology.org/search?q=C2981150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2981150</a>, <a href="https://bioportal.bioontology.org/search?q=C2240378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240378</a>, <a href="https://bioportal.bioontology.org/search?q=C0008925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br /> -
Narrow, high-arched palate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837404&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837404</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002705" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002705</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002705" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002705</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">
- Delayed eruption of deciduous teeth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000680</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000680</a>]</span><br /> -
Delayed eruption of permanent teeth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849540&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849540</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000696" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000696</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000696" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000696</a>]</span><br /> -
Supernumerary teeth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8666004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8666004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/367534004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">367534004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/196273001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">196273001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/520.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">520.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040457&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040457</a>, <a href="https://bioportal.bioontology.org/search?q=C5441989&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441989</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011069" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011069</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0011067" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011067</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011069" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011069</a>]</span><br /> -
Retention cysts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/367645008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">367645008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035281&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035281</a>]</span><br /> -
Enamel hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26597004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26597004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011351&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011351</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006297</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006297</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Airways </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Respiratory distress in early infancy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861533&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861533</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CHEST </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Features </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Narrow thorax <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249671009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249671009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426790&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426790</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000774</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000774</a>]</span><br /> -
Abnormal facility in opposing the shoulders <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861517&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861517</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005259</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005259</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ribs Sternum Clavicles & Scapulae </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small scapula <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298759002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298759002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846434&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846434</a>, <a href="https://bioportal.bioontology.org/search?q=C0575530&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575530</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000882</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000882</a>]</span><br /> -
Hypoplastic clavicles <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/93250003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">93250003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426799&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426799</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000894" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000894</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000894" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000894</a>]</span><br /> -
Aplastic clavicles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857665&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857665</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006660" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006660</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006660" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006660</a>]</span><br /> -
Short ribs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249696007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249696007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426817</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000773" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000773</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000773" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000773</a>]</span><br /> -
Cervical ribs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1285171005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1285171005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72535009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72535009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/756.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">756.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158779&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158779</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000891" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000891</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000891" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000891</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Osteosclerosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49347007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49347007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q78.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q78.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029464&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029464</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011001</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011001</a>]</span><br /> -
Increased bone fragility <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1390474&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1390474</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002659" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002659</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002659" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002659</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Skull </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Wormian bones <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/113194005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">113194005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3553900&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3553900</a>, <a href="https://bioportal.bioontology.org/search?q=C0222716&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0222716</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002645" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002645</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002645" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002645</a>]</span><br /> -
Bossing of frontal bone <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861524&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861524</a>]</span><br /> -
Bossing of occipital bone <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861525&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861525</a>]</span><br /> -
Bossing of parietal bone <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857126&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857126</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000242" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000242</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000242" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000242</a>]</span><br /> -
Calvarial thickening <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858452&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858452</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002684</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002684</a>]</span><br /> -
Absent frontal sinuses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855669&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855669</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002688" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002688</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002688" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002688</a>]</span><br /> -
Absent paranasal sinuses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857131&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857131</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002689" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002689</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002689" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002689</a>]</span><br /> -
Hypoplastic frontal sinuses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859682&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859682</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002738" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002738</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002738" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002738</a>]</span><br /> -
Hypoplastic paranasal sinuses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861527&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861527</a>]</span><br /> -
Large foramen magnum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844508&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844508</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002700" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002700</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002700" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002700</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">
- Spondylolysis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/240221008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">240221008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M43.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M43.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M43.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M43.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038018&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038018</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003304" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003304</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003304" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003304</a>]</span><br /> -
Spondylolisthesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/274152003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">274152003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13236000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13236000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/203681002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">203681002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M43.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M43.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M43.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M43.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/738.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">738.4</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/756.12" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">756.12</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038017&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038017</a>, <a href="https://bioportal.bioontology.org/search?q=C2242765&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2242765</a>, <a href="https://bioportal.bioontology.org/search?q=C0038016&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038016</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003302" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003302</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003302" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003302</a>]</span><br /> -
Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br /> -
Kyphosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71311003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71311003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414564002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414564002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413428007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413428007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M40.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M40.20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.41</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/737.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">737.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265673&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265673</a>, <a href="https://bioportal.bioontology.org/search?q=C0022821&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022821</a>, <a href="https://bioportal.bioontology.org/search?q=C2115817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2115817</a>, <a href="https://bioportal.bioontology.org/search?q=C0022822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</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">
- Wide pubic symphysis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857190&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857190</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003183" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003183</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003183" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003183</a>]</span><br /> -
Delayed mineralization of pubic bone <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861528&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861528</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008788" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008788</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008788" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008788</a>]</span><br /> -
Broad femoral head with short femoral neck <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861529&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861529</a>]</span><br /> -
Coxa vara <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12067001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12067001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74820003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74820003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1179328008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1179328008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q65.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q65.82</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.32</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/755.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.62</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239138&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239138</a>, <a href="https://bioportal.bioontology.org/search?q=C5551440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5551440</a>, <a href="https://bioportal.bioontology.org/search?q=C0158481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158481</a>, <a href="https://bioportal.bioontology.org/search?q=C0152431&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152431</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002812</a>]</span><br /> -
Hypoplastic iliac wing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865027&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865027</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002866" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002866</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002866" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002866</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Brachydactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43476002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43476002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221357&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221357</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span><br /> -
Long second metacarpal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861531&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861531</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006040" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006040</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006040" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006040</a>]</span><br /> -
Short middle phalanges of second and fifth fingers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861532&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861532</a>]</span><br /> -
Cone-shaped phalangeal epiphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5574949&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5574949</a>, <a href="https://bioportal.bioontology.org/search?q=C1859480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859480</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010230" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010230</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0034281" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034281</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034281" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034281</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> Peripheral Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Syringomyelia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/192894009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">192894009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111496009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111496009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G95.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G95.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/336.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">336.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0039144&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039144</a>, <a href="https://bioportal.bioontology.org/search?q=C0039145&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039145</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003396" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003396</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003396" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003396</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
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- One third of patients represent new mutations<br />
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- Caused by mutation in the runt-related transcription factor 2 gene (RUNX2, <a href="/entry/600211#0001">600211.0001</a>)<br />
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<p>A number sign (#) is used with this entry because of evidence that cleidocranial dysplasia-1 (CLCD1) is caused by heterozygous loss-of-function mutation in the RUNX2 gene (<a href="/entry/600211">600211</a>), encoding transcription factor CBFA1, on chromosome 6p21.</p><p>Heterozygous duplication in RUNX2 resulting in a gain of function causes metaphyseal dysplasia and maxillary hypoplasia with or without brachydactyly (MDMHB; <a href="/entry/156510">156510</a>).</p>
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<p>The main clinical features of cleidocranial dysplasia (CLCD) include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation.</p><p><strong><em>Genetic Heterogeneity of Cleidocranial Dysplasia</em></strong></p><p>
CLCD2 (<a href="/entry/620099">620099</a>) is caused by mutation in the CBFB gene (<a href="/entry/121360">121360</a>) on chromosome 16q22.</p><p>See <a href="/entry/168550">168550</a> for a discussion of the combination of cleidocranial dysplasia and parietal foramina.</p><p><a href="#27" class="mim-tip-reference" title="Mundlos, S. &lt;strong&gt;Cleidocranial dysplasia: clinical and molecular genetics.&lt;/strong&gt; J. Med. Genet. 36: 177-182, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10204840/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10204840&lt;/a&gt;]" pmid="10204840">Mundlos (1999)</a> provided a review of the clinical features of cleidocranial dysplasia and the molecular basis of this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10204840" 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>One of the most colorful families was described by <a href="#16" class="mim-tip-reference" title="Jackson, W. P. U. &lt;strong&gt;Osteo-dental dysplasia (cleido-cranial dysostosis). The &#x27;Arnold head&#x27;.&lt;/strong&gt; Acta Med. Scand. 139: 292-307, 1951.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14818746/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14818746&lt;/a&gt;]" pmid="14818746">Jackson (1951)</a>. The condition occurred in many descendants of a Chinese man named Arnold who embraced the Mohammedan religion and 7 wives in South Africa. <a href="#16" class="mim-tip-reference" title="Jackson, W. P. U. &lt;strong&gt;Osteo-dental dysplasia (cleido-cranial dysostosis). The &#x27;Arnold head&#x27;.&lt;/strong&gt; Acta Med. Scand. 139: 292-307, 1951.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14818746/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14818746&lt;/a&gt;]" pmid="14818746">Jackson (1951)</a> was able to trace 356 descendants, of whom 70 were affected by the 'Arnold head.' <a href="#23" class="mim-tip-reference" title="Marie, P., Sainton, P. &lt;strong&gt;Sur la dysostose cleido-cranienne herediataire.&lt;/strong&gt; Rev. Neurol. 6: 835, 1898. Note: English translation in Clin. Orthop. Relat. Res. 58: 5-7, 1968."None>Marie and Sainton (1898)</a> published the original description of this family. <a href="#31" class="mim-tip-reference" title="Ramesar, R. S., Greenberg, J., Martin, R., Goliath, R., Bardien, S., Mundlos, S., Beighton, P. &lt;strong&gt;Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity.&lt;/strong&gt; J. Med. Genet. 33: 511-514, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8782054/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8782054&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.33.6.511&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8782054">Ramesar et al. (1996)</a> estimated that more than 1,000 descendants of the first progenitor now have the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14818746+8782054" 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 family with delayed eruption of deciduous and permanent teeth reported by <a href="#1" class="mim-tip-reference" title="Arvystas, M. G. &lt;strong&gt;Familial generalized delayed eruption of the dentition with short stature.&lt;/strong&gt; Oral Surg. Oral Med. Oral Path. 41: 235-243, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1062752/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1062752&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0030-4220(76)90235-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1062752">Arvystas (1976)</a> probably had cleidocranial dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1062752" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Dore, D. D., MacEwen, G. D., Boulos, M. I. &lt;strong&gt;Cleidocranial dysostosis and syringomyelia: review of the literature and case report.&lt;/strong&gt; Clin. Orthop. Relat. Res. 214: 229-234, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3791747/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3791747&lt;/a&gt;]" pmid="3791747">Dore et al. (1987)</a> described a 34-year-old woman with cleidocranial dysostosis and scoliosis diagnosed at age 13 years. The scoliosis continued to progress after skeletal maturation. Syringomyelia was diagnosed at the age of 34. The authors noted reports of 2 previous patients with cleidocranial dysostosis and syringomyelia and suggested that this association may be a more common problem than generally recognized. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3791747" 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="Jensen, B. L. &lt;strong&gt;Somatic development in cleidocranial dysplasia.&lt;/strong&gt; Am. J. Med. Genet. 35: 69-74, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2301472/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2301472&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320350113&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2301472">Jensen (1990)</a> studied development in 7 males and 10 females, aged 5 to 46 years, with CLCD; 11 were followed longitudinally. Height and radius length were decreased, especially in females. Longitudinal data showed growth retardation and slightly retarded skeletal maturation throughout childhood. The metacarpophalangeal pattern profile demonstrated great variation in bone length, presumably resulting from extra epiphyses in metacarpals II and V and from multiple cone-shaped epiphyses. <a href="#17" class="mim-tip-reference" title="Jensen, B. L. &lt;strong&gt;Somatic development in cleidocranial dysplasia.&lt;/strong&gt; Am. J. Med. Genet. 35: 69-74, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2301472/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2301472&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320350113&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2301472">Jensen (1990)</a> concluded that CLCD is a generalized skeletal dysplasia. <a href="#6" class="mim-tip-reference" title="Chitayat, D., Hodgkinson, K. A., Azouz, E. M. &lt;strong&gt;Intrafamilial variability in cleidocranial dysplasia: a three generation family.&lt;/strong&gt; Am. J. Med. Genet. 42: 298-303, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1536165/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1536165&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320420307&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1536165">Chitayat et al. (1992)</a> described the range of variability in affected members in 3 generations of a family. The propositus presented with respiratory distress due to a narrow thorax. The clavicles were hypoplastic with discontinuity in the central portions. A 17-year-old aunt of the proposita showed large fontanels and multiple wormian bones as well as a wide symphysis pubis with hypoplasia of the iliac bones. The 25-year-old mother of the proposita showed typical hand abnormalities by x-ray: thin metacarpal and metatarsal diaphyses of digits 2 to 5 and short middle phalanx of fingers 2 and 5. The grandmother likewise showed wormian bones. On the basis of a review of 13 patients, <a href="#32" class="mim-tip-reference" title="Reed, M. H., Houston, C. S. &lt;strong&gt;Abnormal ossification of the hyoid bone in cleidocranial dysplasia.&lt;/strong&gt; Canad. Assoc. Radiol. J. 44: 277-279, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8348356/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8348356&lt;/a&gt;]" pmid="8348356">Reed and Houston (1993)</a> concluded that underossification of the hyoid bone could be added to the delayed ossification that affects the skull, teeth, pelvis, and extremities in CLCD. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8348356+2301472+1536165" 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="#8" class="mim-tip-reference" title="Cooper, S. C., Flaitz, C. M., Johnston, D. A., Lee, B., Hecht, J. T. &lt;strong&gt;A natural history of cleidocranial dysplasia.&lt;/strong&gt; Am. J. Med. Genet. 104: 1-6, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11746020/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11746020&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.10024&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11746020">Cooper et al. (2001)</a> assembled a series of 90 CLCD individuals and 56 relative controls ascertained from genetic and dental practices in the United States, Canada, Europe, and Australia. A number of previously unrecognized complications were significantly increased, including: genua valga, scoliosis, pes planus, sinus infections, upper respiratory complications, recurrent otitis media, and hearing loss. Primary cesarean section rate was significantly increased compared to relative controls and the general population rate. Dental abnormalities, including supernumerary teeth, failure of exfoliation of the primary dentition, and malocclusion, were found to be serious and complex problems that required intervention. Several clinical recommendations based on the findings of this study were presented: a hearing evaluation at birth and during early childhood; a team approach to the management of dental abnormalities on a long-term basis with the overall goal to provide an esthetic facial appearance and functioning occlusion by late adolescence or early adulthood; medical and surgical evaluation for the consequences of delayed craniofacial development (obstructive sleep apnea and sinusitis and otitis); and evaluation for submucous cleft palate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11746020" 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="Morava, E., Karteszi, J., Weisenbach, J., Caliebe, A., Mundlos, S., Mehes, K. &lt;strong&gt;Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.&lt;/strong&gt; Europ. J. Pediat. 161: 619-622, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12424590/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12424590&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00431-002-0977-x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12424590">Morava et al. (2002)</a> reported a mother and daughter with CLCD who also had biochemical signs of hypophosphatasia (see <a href="/entry/241500">241500</a>; <a href="/entry/146300">146300</a>), including decreased levels of alkaline phosphatase (<a href="/entry/171760">171760</a>). Both patients had a heterozygous mutation in the RUNX2 gene (<a href="/entry/600211#0012">600211.0012</a>), and the authors concluded that the mutation caused secondary features of hypophosphatasia. <a href="#36" class="mim-tip-reference" title="Unger, S., Mornet, E., Mundlos, S., Blaser, S., Cole, D. E. C. &lt;strong&gt;Severe cleidocranial dysplasia can mimic hypophosphatasia.&lt;/strong&gt; Europ. J. Pediat. 161: 623-626, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12424591/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12424591&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00431-002-0978-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12424591">Unger et al. (2002)</a> reported a similar patient with CLCD and osteopenia with decreased serum alkaline phosphatase. Radiographically, she had a Bowdler spur of the right fibula and was initially diagnosed with hypophosphatasia. Reevaluation at age 11 years revealed findings of classic CLCD, although no mutations were identified in the RUNX2 gene. <a href="#36" class="mim-tip-reference" title="Unger, S., Mornet, E., Mundlos, S., Blaser, S., Cole, D. E. C. &lt;strong&gt;Severe cleidocranial dysplasia can mimic hypophosphatasia.&lt;/strong&gt; Europ. J. Pediat. 161: 623-626, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12424591/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12424591&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00431-002-0978-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12424591">Unger et al. (2002)</a> concluded that osteopenia, osteoporosis, and decreased alkaline phosphatase may be underemphasized findings in CLCD, but likely occur only in a minority of patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12424591+12424590" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Cogulu, O., Munanoglu, D., Karaca, E., Onay, H., Ozkinay, F. &lt;strong&gt;Cleidocranial dysplasia with new additional findings. (Letter)&lt;/strong&gt; Genet. Counsel. 15: 229-231, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15287425/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15287425&lt;/a&gt;]" pmid="15287425">Cogulu et al. (2004)</a> described horseshoe kidney, hypospadias, and undescended testis in a patient with CLCD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15287425" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Differential Diagnosis</em></strong></p><p>
Pycnodysostosis (<a href="/entry/265800">265800</a>) and mandibuloacral dysplasia (<a href="/entry/248370">248370</a>) are disorders to be considered in the differential diagnosis of cleidocranial dysplasia. Acroosteolysis and bone sclerosis with tendency to fracture are differentiating features of pycnodysostosis.</p>
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<a id="inheritance" class="mim-anchor"></a>
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<strong>Inheritance</strong>
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<p>Cleidocranial dysplasia is an autosomal dominant disorder. However, <a href="#14" class="mim-tip-reference" title="Goodman, R. M., Tadmor, R., Zaritsky, A., Becker, S. A. &lt;strong&gt;Evidence for an autosomal recessive form of cleidocranial dysostosis.&lt;/strong&gt; Clin. Genet. 8: 20-29, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1149318/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1149318&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1975.tb01950.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1149318">Goodman et al. (1975)</a> reported a family in which 2 brothers with cleidocranial dysplasia were born to unaffected first-cousin parents; he also reported a case born from a niece/uncle union. Several older reports of affected sibs with presumably normal parents were reviewed by <a href="#19" class="mim-tip-reference" title="Lasker, G. W. &lt;strong&gt;The inheritance of cleidocranial dysostosis.&lt;/strong&gt; Hum. Biol. 18: 103-126, 1946.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20285001/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20285001&lt;/a&gt;]" pmid="20285001">Lasker (1946)</a>. <a href="#14" class="mim-tip-reference" title="Goodman, R. M., Tadmor, R., Zaritsky, A., Becker, S. A. &lt;strong&gt;Evidence for an autosomal recessive form of cleidocranial dysostosis.&lt;/strong&gt; Clin. Genet. 8: 20-29, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1149318/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1149318&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1975.tb01950.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1149318">Goodman et al. (1975)</a> supported recessive inheritance of CLCD in the cases he studied. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20285001+1149318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#37" class="mim-tip-reference" title="Zackai, E. H., Robin, N. H., McDonald-McGinn, D. M. &lt;strong&gt;Sibs with cleidocranial dysplasia born to normal parents: germ line mosaicism?&lt;/strong&gt; Am. J. Med. Genet. 69: 348-351, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9098480/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9098480&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19970414)69:4&lt;348::aid-ajmg2&gt;3.0.co;2-h&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9098480">Zackai et al. (1997)</a> presented a family with 2 affected sisters born to nonconsanguineous and unaffected parents. They suggested germline mosaicism as the most likely mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9098480" 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="#30" class="mim-tip-reference" title="Pal, T., Napierala, D., Becker, T. A., Loscalzo, M., Baldridge, D., Lee, B., Sutphen, R. &lt;strong&gt;The presence of germ line mosaicism in cleidocranial dysplasia.&lt;/strong&gt; Clin. Genet. 71: 589-591, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17539909/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17539909&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2007.00812.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17539909">Pal et al. (2007)</a> reported 2 brothers and a maternal half brother with CLCD confirmed by genetic analysis. Initial DNA testing in the unaffected mother did not detect the mutation, but further testing using heteroduplex analysis applying high-resolution melting analysis, followed by subcloning, detected low-level somatic mosaicism in maternal blood and buccal swab. The findings indicated germline mosaicism in the mother as the inheritance mechanism for CLCD in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17539909" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="cytogenetics" class="mim-anchor"></a>
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<strong>Cytogenetics</strong>
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<p><a href="#29" class="mim-tip-reference" title="Nienhaus, H., Mau, U., Zang, K. D., Henn, W. &lt;strong&gt;Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia.&lt;/strong&gt; Am. J. Med. Genet. 46: 630-631, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8362902/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8362902&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320460605&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8362902">Nienhaus et al. (1993)</a> proposed that the CLCD gene is located on either the long or the short arm of chromosome 6. They observed a male patient with a pericentric inversion of chromosome 6 and classic CLCD together with mild to moderate mental retardation, hearing deficiency, and unusual facial appearance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8362902" 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="#28" class="mim-tip-reference" title="Narahara, K., Tsuji, K., Yokoyama, Y., Seino, Y. &lt;strong&gt;Cleidocranial dysplasia associated with a t(6;18)(p12;q24) translocation. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 56: 119-120, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7747775/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7747775&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320560128&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7747775">Narahara et al. (1995)</a> observed CLCD in association with a t(6;18)(p12;q24) translocation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7747775" 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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<div>
<a id="mapping" class="mim-anchor"></a>
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<strong>Mapping</strong>
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<p>In 2 kindreds with typical features of CLCD, <a href="#25" class="mim-tip-reference" title="Mundlos, S., Mulliken, J. B., Abramson, D. L., Warman, M. L., Knoll, J. H. M., Olsen, B. R. &lt;strong&gt;Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family.&lt;/strong&gt; Hum. Molec. Genet. 4: 71-75, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7711736/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7711736&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/4.1.71&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7711736">Mundlos et al. (1995)</a> used the candidate gene approach to map the disorder to chromosome 6p. Linkage was established between CLCD and 4 loci--D6S426, D6S451, D6S459, and TCTE1 (<a href="/entry/186975">186975</a>)--that span a region of 10 cM on 6p. One highly polymorphic microsatellite from this region, D6S459, showed allelic loss in all affected members of 1 family with 2 different sets of primers. The presence of a deletion in this area was confirmed by Southern blot analysis using a probe derived from the amplification product of the D6S459 marker. Thus, the CLCD gene was assigned to 6p21. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7711736" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Feldman, G. J., Robin, N. H., Brueton, L. A., Robertson, E., Thompson, E. M., Siegel-Bartelt, J., Gasser, D. L., Bailey, L. C., Zackai, E. H., Muenke, M. &lt;strong&gt;A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.&lt;/strong&gt; Am. J. Hum. Genet. 56: 938-943, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7717404/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7717404&lt;/a&gt;]" pmid="7717404">Feldman et al. (1995)</a> performed linkage studies in 5 families with CLCD, including 24 affected and 20 unaffected individuals, using microsatellite markers spanning 2 candidate regions on chromosomes 8q and 6. The strongest support for linkage was with the 6p marker D6S282, with a 2-point lod score of 4.84 at theta = 0.03. The multipoint lod score was 5.70 for location in the 19-cM interval between D6S282 and D6S291. <a href="#12" class="mim-tip-reference" title="Feldman, G. J., Robin, N. H., Brueton, L. A., Robertson, E., Thompson, E. M., Siegel-Bartelt, J., Gasser, D. L., Bailey, L. C., Zackai, E. H., Muenke, M. &lt;strong&gt;A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.&lt;/strong&gt; Am. J. Hum. Genet. 56: 938-943, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7717404/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7717404&lt;/a&gt;]" pmid="7717404">Feldman et al. (1995)</a> pointed out that the gene for bone morphogenetic protein-6 (BMP6; <a href="/entry/112266">112266</a>) is located on chromosome 6 and that comparative mapping based on mouse-human homology (<a href="#9" class="mim-tip-reference" title="Copeland, N. G., Jenkins, N. A., Gilbert, D. J., Eppig, J. T., Maltais, L. J., Miller, J. C., Dietrich, W. F., Weaver, A., Lincoln, S. E., Steen, R. G., Stein, L. D., Nadeau, J. H., Lander, E. S. &lt;strong&gt;A genetic linkage map of the mouse: current applications and future prospects.&lt;/strong&gt; Science 262: 57-66, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8211130/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8211130&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.8211130&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8211130">Copeland et al., 1993</a>) would place BMP6 on human 6p, thus making BMP6 a candidate gene for CLCD. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7717404+8211130" 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="#13" class="mim-tip-reference" title="Gelb, B. D., Cooper, E., Shevell, M., Desnick, R. J. &lt;strong&gt;Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion.&lt;/strong&gt; Am. J. Med. Genet. 58: 200-205, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8533817/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8533817&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320580222&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8533817">Gelb et al. (1995)</a> confirmed linkage of CLCD to 6p21. Based on their data and those described by <a href="#25" class="mim-tip-reference" title="Mundlos, S., Mulliken, J. B., Abramson, D. L., Warman, M. L., Knoll, J. H. M., Olsen, B. R. &lt;strong&gt;Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family.&lt;/strong&gt; Hum. Molec. Genet. 4: 71-75, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7711736/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7711736&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/4.1.71&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7711736">Mundlos et al. (1995)</a>, they further refined the localization of CLCD to a 6-cM region of 6p21 that includes a microdeletion at D6S459. <a href="#31" class="mim-tip-reference" title="Ramesar, R. S., Greenberg, J., Martin, R., Goliath, R., Bardien, S., Mundlos, S., Beighton, P. &lt;strong&gt;Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity.&lt;/strong&gt; J. Med. Genet. 33: 511-514, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8782054/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8782054&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.33.6.511&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8782054">Ramesar et al. (1996)</a> investigated the original family from South Africa and also showed linkage to 6p21.3-p21.1. The maximum lod score was 7.14 at theta = 0.00 with marker D6S459. Using their own and previous mapping data, they refined the localization of the CLCD gene to a 4- to 5-cM region between D6S451 and D6S465. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8782054+7711736+8533817" 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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<div>
<a id="molecularGenetics" class="mim-anchor"></a>
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Molecular Genetics</strong>
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<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
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<p><a href="#26" class="mim-tip-reference" title="Mundlos, S., Otto, F., Mundlos, C., Mulliken, J. B., Aylsworth, A. S., Albright, S., Lindhout, D., Cole, W. G., Henn, W., Knoll, J. H. M., Owen, M. J., Mertelsmann, R., Zabel, B. U., Olsen, B. R. &lt;strong&gt;Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.&lt;/strong&gt; Cell 89: 773-779, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9182765/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9182765&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0092-8674(00)80260-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9182765">Mundlos et al. (1997)</a> found the linkage to 6p21 in studies of 3 additional large families with 39 affected members. The region in which the refined localization placed the gene was covered by 14 yeast artificial chromosomes (YACs). Three known genes were identified within the contig: TCTE1 (<a href="/entry/186975">186975</a>), MUT (<a href="/entry/609058">609058</a>), and CBFA1 (<a href="/entry/600211">600211</a>). CBFA1 was a reasonable candidate gene for CLCD because a member of the 'runt' family had previously been described as a bone-specific nuclear-matrix-binding transcription factor. By fluorescence in situ hybridization to YACs, they confirmed the presence of a deletion on 6p in 1 family and enabled them to narrow the region to approximately 1.5 Mb. They also studied the patient with a pericentric inversion involving 6p21-q16 previously documented by <a href="#29" class="mim-tip-reference" title="Nienhaus, H., Mau, U., Zang, K. D., Henn, W. &lt;strong&gt;Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia.&lt;/strong&gt; Am. J. Med. Genet. 46: 630-631, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8362902/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8362902&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320460605&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8362902">Nienhaus et al. (1993)</a> and found results supporting the assignment. Thus, in some families, the phenotype segregated with deletions, resulting in heterozygous loss of CBFA1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8362902+9182765" 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 other families, <a href="#26" class="mim-tip-reference" title="Mundlos, S., Otto, F., Mundlos, C., Mulliken, J. B., Aylsworth, A. S., Albright, S., Lindhout, D., Cole, W. G., Henn, W., Knoll, J. H. M., Owen, M. J., Mertelsmann, R., Zabel, B. U., Olsen, B. R. &lt;strong&gt;Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.&lt;/strong&gt; Cell 89: 773-779, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9182765/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9182765&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0092-8674(00)80260-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9182765">Mundlos et al. (1997)</a> found insertion, deletion, and missense mutations leading to translational stop codons in the DNA-binding domain or in the C-terminal transactivating region of the CBFA1 protein (see, e.g., <a href="/entry/600211#0001">600211.0001</a>; <a href="/entry/600211#0003">600211.0003</a>). In-frame expansion of a polyalanine stretch segregated in an affected family with brachydactyly and minor clinical findings of CLCD; see <a href="/entry/600211#0003">600211.0003</a>. Heterozygous loss of function of CBFA1 appeared to be sufficient to produce CLCD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9182765" 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 29 patients with CLCD from 19 unrelated families, <a href="#2" class="mim-tip-reference" title="Baumert, U., Golan, I., Redlich, M., Aknin, J.-J., Muessig, D. &lt;strong&gt;Cleidocranial dysplasia: molecular genetic analysis and phenotypic-based description of a Middle European patient group.&lt;/strong&gt; Am. J. Med. Genet. 139A: 78-85, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16222673/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16222673&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30927&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16222673">Baumert et al. (2005)</a> sequenced the RUNX2 gene and identified 12 different RUNX2 mutations. They examined phenotypic data using homogeneity analysis and observed mild to full-blown expression of the CLCD phenotype, with intrafamilial clinical variability. <a href="#2" class="mim-tip-reference" title="Baumert, U., Golan, I., Redlich, M., Aknin, J.-J., Muessig, D. &lt;strong&gt;Cleidocranial dysplasia: molecular genetic analysis and phenotypic-based description of a Middle European patient group.&lt;/strong&gt; Am. J. Med. Genet. 139A: 78-85, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16222673/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16222673&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30927&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16222673">Baumert et al. (2005)</a> commented that homogeneity analysis simplified grouping the patients into distinct entities, but noted that the analysis separated individuals with the same mutation, emphasizing the clinical variability within the patient cohort. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16222673" 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="El-Gharbawy, A. H., Peeden, J. N., Jr., Lachman, R. S., Graham, J. M., Jr., Moore, S. R., Rimoin, D. L. &lt;strong&gt;Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2.&lt;/strong&gt; Am. J. Med. Genet. 152A: 169-174, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20014132/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20014132&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20014132[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33146&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20014132">El-Gharbawy et al. (2010)</a> studied a 7-year-old boy with CLCD complicated by severe progressive kyphoscoliosis, who also displayed features of hypophosphatasia (see <a href="/entry/241500">241500</a>), including Bowdler spurs, severe osteopenia, and low alkaline phosphatase. After no RUNX2 mutation was found by sequencing, the authors performed array CGH and identified a 50- to 70-kb deletion that predicted a disruption of the C terminus of RUNX2, encompassing the coding sequence for amino acids 327 to 521 and involving the SMAD 1,2,3,5 binding sites and the nuclear matrix targeting signal (NMTS) regions. <a href="#11" class="mim-tip-reference" title="El-Gharbawy, A. H., Peeden, J. N., Jr., Lachman, R. S., Graham, J. M., Jr., Moore, S. R., Rimoin, D. L. &lt;strong&gt;Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2.&lt;/strong&gt; Am. J. Med. Genet. 152A: 169-174, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20014132/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20014132&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20014132[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33146&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20014132">El-Gharbawy et al. (2010)</a> emphasized the need to search for deletions when sequencing of the target gene is normal, and noted that the C-terminal region of RUNX2 appears to play an integral role in human osteogenesis and osteoblast differentiation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20014132" 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>To correlate CBFA1 mutations in different functional domains with the CLCD clinical spectrum, <a href="#39" class="mim-tip-reference" title="Zhou, G., Chen, Y., Zhou, L., Thirunavukkarasu, K., Hecht, J., Chitayat, D., Gelb, B. D., Pirinen, S., Berry, S. A., Greenberg, C. R., Karsenty, G., Lee, B. &lt;strong&gt;CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.&lt;/strong&gt; Hum. Molec. Genet. 8: 2311-2316, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10545612/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10545612&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/8.12.2311&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10545612">Zhou et al. (1999)</a> studied 26 independent cases of CLCD, and a total of 16 new mutations were identified in 17 families. Most mutations were de novo missense mutations that affected conserved residues in the runt domain and completely abolished both DNA binding and transactivation of a reporter gene. These, and mutations that resulted in premature termination in the runt domain, produced a classic CLCD phenotype by abolishing transactivation of the mutant protein with consequent haploinsufficiency. <a href="#39" class="mim-tip-reference" title="Zhou, G., Chen, Y., Zhou, L., Thirunavukkarasu, K., Hecht, J., Chitayat, D., Gelb, B. D., Pirinen, S., Berry, S. A., Greenberg, C. R., Karsenty, G., Lee, B. &lt;strong&gt;CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.&lt;/strong&gt; Hum. Molec. Genet. 8: 2311-2316, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10545612/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10545612&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/8.12.2311&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10545612">Zhou et al. (1999)</a> further identified 3 putative hypomorphic mutations that resulted in a clinical spectrum including classic and mild CLCD, as well as an isolated dental phenotype characterized by delayed eruption of permanent teeth (<a href="/entry/600211#0010">600211.0010</a>). Functional studies showed that 2 of the 3 mutations were hypomorphic in nature and 2 were associated with significant intrafamilial variability in expressivity, including isolated dental anomalies without the skeletal features of CLCD. Together these data showed that variable loss of function due to alterations in the runt and C-terminal proline/serine/threonine-rich (PST) activation domains of CBFA1 may give rise to clinical variability, including classic CLCD, mild CLCD, and isolated primary dental anomalies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10545612" 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="#38" class="mim-tip-reference" title="Zheng, Q., Sebald, E., Zhou, G., Chen, Y., Wilcox, W., Lee, B., Krakow, D. &lt;strong&gt;Dysregulation of chondrogenesis in human cleidocranial dysplasia.&lt;/strong&gt; Am. J. Hum. Genet. 77: 305-312, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15952089/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15952089&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=15952089[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/432261&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15952089">Zheng et al. (2005)</a> observed growth plate abnormalities in a patient with a 1-bp insertion (<a href="/entry/600211#0013">600211.0013</a>) in the RUNX2 gene. Histologic analysis of the rib and long-bone cartilages showed a markedly diminished zone of hypertrophy; analysis of limb cartilage RNA revealed a 5- to 10-fold decrease in the hypertrophic chondrocyte molecular markers VEGF (<a href="/entry/192240">192240</a>), MMP13 (<a href="/entry/600108">600108</a>), and COL10A1 (<a href="/entry/120110">120110</a>). <a href="#38" class="mim-tip-reference" title="Zheng, Q., Sebald, E., Zhou, G., Chen, Y., Wilcox, W., Lee, B., Krakow, D. &lt;strong&gt;Dysregulation of chondrogenesis in human cleidocranial dysplasia.&lt;/strong&gt; Am. J. Hum. Genet. 77: 305-312, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15952089/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15952089&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=15952089[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/432261&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15952089">Zheng et al. (2005)</a> concluded that humans with CLCD have altered endochondral ossification due to altered RUNX2 regulation of hypertrophic chondrocyte-specific genes during chondrocyte maturation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15952089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#35" class="mim-tip-reference" title="Sillence, D. O., Ritchie, H. E., Selby, P. B. &lt;strong&gt;Skeletal anomalies in mice with cleidocranial dysplasia.&lt;/strong&gt; Am. J. Med. Genet. 27: 75-85, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3605208/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3605208&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320270109&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3605208">Sillence et al. (1987)</a> proposed the gene symbol CLCD for the mutation in both mouse and man; this symbol has also been used for 'central core disease' (<a href="/entry/117000">117000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3605208" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#35" class="mim-tip-reference" title="Sillence, D. O., Ritchie, H. E., Selby, P. B. &lt;strong&gt;Skeletal anomalies in mice with cleidocranial dysplasia.&lt;/strong&gt; Am. J. Med. Genet. 27: 75-85, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3605208/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3605208&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320270109&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3605208">Sillence et al. (1987)</a> described cleidocranial dysplasia in mice. The change was radiation-induced and inherited as an autosomal dominant with variable expressivity but almost complete penetrance. The homozygous state was lethal in utero. The features were variable clavicular hypoplasia, delayed closure of cranial fontanels and sutures, and variable hypoplasia of pelvic bones, in particular, ischiopubic rami. <a href="#33" class="mim-tip-reference" title="Selby, P. B., Bolch, S. N., Mierzejewski, V. S., McKinley, T. W., Jr., Raymer, G. D. &lt;strong&gt;Synergistic interactions between two skeletal mutations in mice: individual and combined effects of the semidominants cleidocranial dysplasia (Ccd) and short digits (Dsh).&lt;/strong&gt; J. Hered. 84: 466-474, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8270769/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8270769&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/oxfordjournals.jhered.a111373&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8270769">Selby et al. (1993)</a> investigated the interactions between 2 unlinked genes causing a semidominant skeletal dysplasia in mice: cleidocranial dysplasia (Ccd) and 'short digits' (Dsh). Each mutant is a homozygous lethal. The Ccd mutation was reported by <a href="#34" class="mim-tip-reference" title="Selby, P. B., Selby, P. R. &lt;strong&gt;Gamma-ray-induced dominant mutations that cause skeletal abnormalities in mice. II. Description of proved mutations.&lt;/strong&gt; Mutat. Res. 51: 199-236, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/692541/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;692541&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0027-5107(78)80019-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="692541">Selby and Selby (1978)</a>. <a href="#33" class="mim-tip-reference" title="Selby, P. B., Bolch, S. N., Mierzejewski, V. S., McKinley, T. W., Jr., Raymer, G. D. &lt;strong&gt;Synergistic interactions between two skeletal mutations in mice: individual and combined effects of the semidominants cleidocranial dysplasia (Ccd) and short digits (Dsh).&lt;/strong&gt; J. Hered. 84: 466-474, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8270769/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8270769&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/oxfordjournals.jhered.a111373&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8270769">Selby et al. (1993)</a> found that mice who were heterozygous for both mutations showed 7 different synergistic interactions, including one that yielded an entirely new abnormality not predicted from any abnormalities found in either of the single homozygotes. Although <a href="#33" class="mim-tip-reference" title="Selby, P. B., Bolch, S. N., Mierzejewski, V. S., McKinley, T. W., Jr., Raymer, G. D. &lt;strong&gt;Synergistic interactions between two skeletal mutations in mice: individual and combined effects of the semidominants cleidocranial dysplasia (Ccd) and short digits (Dsh).&lt;/strong&gt; J. Hered. 84: 466-474, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8270769/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8270769&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/oxfordjournals.jhered.a111373&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8270769">Selby et al. (1993)</a> did not expect to find antagonistic interactions, they in fact found 3 in the double heterozygote. In all cases, the effects of Dsh were either partly or completely suppressed by Ccd. A classic example of comb shape in chickens in which interaction of 2 mutations at different loci led to a completely new phenotype was cited. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8270769+692541+3605208" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Lou, Y., Javed, A., Hussain, S., Colby, J., Frederick, D., Pratap, J., Xie, R., Gaur, T., van Wijnen, A. J., Jones, S. J., Stein, G. S., Lian, J. B., Stein, J. L. &lt;strong&gt;A Runx2 threshold for the cleidocranial dysplasia phenotype.&lt;/strong&gt; Hum. Molec. Genet. 18: 556-568, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19028669/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19028669&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19028669[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddn383&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19028669">Lou et al. (2009)</a> generated a mouse model of CLCD using a hypomorphic Runx2-mutant allele (neo7), in which only part of the transcript is processed to full-length Runx2. Runx2 neo7/neo7 mice expressed a reduced level of wildtype transcript (55 to 70%) and protein and had grossly normal skeletons with no abnormalities observed in the growth plate, but exhibited developmental defects in calvaria and clavicles that persisted through postnatal growth. Clavicle defects were caused by disrupted endochondral bone formation during embryogenesis. These hypomorphic mice had altered calvarial bone volume, as observed by histology and micro-CT imaging, and decreased expression of osteoblast marker genes. Runx2 neo7/+ mice had 79 to 84% of wildtype transcript and exhibited a normal bone phenotype. <a href="#22" class="mim-tip-reference" title="Lou, Y., Javed, A., Hussain, S., Colby, J., Frederick, D., Pratap, J., Xie, R., Gaur, T., van Wijnen, A. J., Jones, S. J., Stein, G. S., Lian, J. B., Stein, J. L. &lt;strong&gt;A Runx2 threshold for the cleidocranial dysplasia phenotype.&lt;/strong&gt; Hum. Molec. Genet. 18: 556-568, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19028669/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19028669&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19028669[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddn383&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19028669">Lou et al. (2009)</a> concluded that there is a critical gene dosage requirement of Runx2 for the formation of intramembranous bone tissues during embryogenesis and that a decrease to 70% of wildtype Runx2 levels results in the CLCD phenotype, whereas levels above 79% produce a normal skeleton, suggesting that the range of bone phenotypes in CLCD patients is attributable to quantitative reduction in the functional activity of RUNX2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19028669" 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 discussion of genetic skeletal dysplasias in the Museum of Pathological Anatomy in Vienna, <a href="#4" class="mim-tip-reference" title="Beighton, P., Sujansky, E., Patzak, B., Portele, K. A. &lt;strong&gt;Genetic skeletal dysplasias in the Museum of Pathological Anatomy, Vienna.&lt;/strong&gt; Am. J. Med. Genet. 47: 843-847, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8279481/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8279481&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320470609&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8279481">Beighton et al. (1993)</a> pictured the skeleton of a 25-year-old man with cleidocranial dysplasia who died in 1909 of tuberculous pneumonia. The skeleton showed the characteristic hypoplasia of the clavicles in association with a large, patent anterior fontanel. Other minor features were bilateral genu valgum and slight medial bowing of the tibia and fibula. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8279481" 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="Brueton, L. A., Reeve, A., Ellis, R., Husband, P., Thompson, E. M., Kingston, H. M. &lt;strong&gt;Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals.&lt;/strong&gt; Am. J. Med. Genet. 43: 612-618, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1605259/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1605259&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430322&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1605259">Brueton et al. (1992)</a> presented 3 patients (mother, daughter, and an unrelated patient) with congenital clavicular hypoplasia or agenesis thought to have cleidocranial dysplasia due to chromosome 8q22 rearrangements and manifesting micrognathia, exophthalmos, and lack of a generalized skeletal dysplasia. Because 8q22 was disrupted in all 3 patients, <a href="#5" class="mim-tip-reference" title="Brueton, L. A., Reeve, A., Ellis, R., Husband, P., Thompson, E. M., Kingston, H. M. &lt;strong&gt;Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals.&lt;/strong&gt; Am. J. Med. Genet. 43: 612-618, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1605259/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1605259&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430322&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1605259">Brueton et al. (1992)</a> suggested that the gene(s) responsible for the cleidocranial dysplasia phenotype might be located in that region. However, <a href="#25" class="mim-tip-reference" title="Mundlos, S., Mulliken, J. B., Abramson, D. L., Warman, M. L., Knoll, J. H. M., Olsen, B. R. &lt;strong&gt;Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family.&lt;/strong&gt; Hum. Molec. Genet. 4: 71-75, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7711736/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7711736&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/4.1.71&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7711736">Mundlos et al. (1995)</a> demonstrated no linkage to the 8q22 region in 2 families with classic cleidocranial dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1605259+7711736" 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="#Baumert2006" class="mim-tip-reference" title="Baumert, U., Golan, I., Redlich, M., Aknin, J.-J., Muessig, D. &lt;strong&gt;Clarification of data reported in &#x27;Cleidocranial dysplasia: molecular genetic analysis and phenotypic-based description of a Middle European patient group&#x27; (AJMG 139A: 78-85) (Letter)&lt;/strong&gt; Am. J. Med. Genet. 140A: 1030 only, 2006.">Baumert et al. (2006)</a>; <a href="#Harris1977" class="mim-tip-reference" title="Harris, R. J., Gaston, G. W., Avery, J. E., McCuen, J. M. &lt;strong&gt;Mandibular prognathism and apertognathia associated with cleidocranial dysostosis in a father and son.&lt;/strong&gt; Oral Surg. 44: 830-836, 1977.">Harris et al. (1977)</a>; <a href="#Kalliala1962" class="mim-tip-reference" title="Kalliala, E., Taskinen, P. J. &lt;strong&gt;Cleidocranial dysostosis: report of six typical cases and one atypical case.&lt;/strong&gt; Oral Surg. 15: 808-822, 1962.">Kalliala and Taskinen
(1962)</a>; <a href="#Lechelle1936" class="mim-tip-reference" title="Lechelle, P., Thevenard, A., Mignot, H. &lt;strong&gt;Dysostose cleido-cranienne avec malformations vertebrales multiples et troubles nerveux: caractere familial des malformations.&lt;/strong&gt; Bull. Mem. Soc. Med. Hop. Paris 52: 1526-1530, 1936.">Lechelle et al. (1936)</a>; <a href="#Levin1963" class="mim-tip-reference" title="Levin, E. J., Sonnenschein, H. &lt;strong&gt;Cleidocranial dysostosis.&lt;/strong&gt; New York J. Med. 63: 1562-1566, 1963.">Levin and Sonnenschein (1963)</a>
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<a id="Arvystas1976" class="mim-anchor"></a>
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Arvystas, M. G.
<strong>Familial generalized delayed eruption of the dentition with short stature.</strong>
Oral Surg. Oral Med. Oral Path. 41: 235-243, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1062752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1062752</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1062752" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0030-4220(76)90235-8" target="_blank">Full Text</a>]
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<a id="Baumert2005" class="mim-anchor"></a>
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Baumert, U., Golan, I., Redlich, M., Aknin, J.-J., Muessig, D.
<strong>Cleidocranial dysplasia: molecular genetic analysis and phenotypic-based description of a Middle European patient group.</strong>
Am. J. Med. Genet. 139A: 78-85, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16222673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16222673</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16222673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.30927" target="_blank">Full Text</a>]
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<a id="Baumert2006" class="mim-anchor"></a>
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Baumert, U., Golan, I., Redlich, M., Aknin, J.-J., Muessig, D.
<strong>Clarification of data reported in 'Cleidocranial dysplasia: molecular genetic analysis and phenotypic-based description of a Middle European patient group' (AJMG 139A: 78-85) (Letter)</strong>
Am. J. Med. Genet. 140A: 1030 only, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16575894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16575894</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16575894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.31182" target="_blank">Full Text</a>]
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Beighton, P., Sujansky, E., Patzak, B., Portele, K. A.
<strong>Genetic skeletal dysplasias in the Museum of Pathological Anatomy, Vienna.</strong>
Am. J. Med. Genet. 47: 843-847, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8279481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8279481</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8279481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320470609" target="_blank">Full Text</a>]
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<a id="Brueton1992" class="mim-anchor"></a>
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<p class="mim-text-font">
Brueton, L. A., Reeve, A., Ellis, R., Husband, P., Thompson, E. M., Kingston, H. M.
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[<a href="https://doi.org/10.1002/ajmg.1320430322" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.10024" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.8211130" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.33146" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320580222" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1975.tb01950.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0030-4220(77)90026-3" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320350113" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/ddn383" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s00431-002-0977-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/4.1.71" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0092-8674(00)80260-3" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320560128" target="_blank">Full Text</a>]
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<strong>Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia.</strong>
Am. J. Med. Genet. 46: 630-631, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8362902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8362902</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8362902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320460605" target="_blank">Full Text</a>]
</p>
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<a id="30" class="mim-anchor"></a>
<a id="Pal2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pal, T., Napierala, D., Becker, T. A., Loscalzo, M., Baldridge, D., Lee, B., Sutphen, R.
<strong>The presence of germ line mosaicism in cleidocranial dysplasia.</strong>
Clin. Genet. 71: 589-591, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17539909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17539909</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17539909" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.2007.00812.x" target="_blank">Full Text</a>]
</p>
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<a id="31" class="mim-anchor"></a>
<a id="Ramesar1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ramesar, R. S., Greenberg, J., Martin, R., Goliath, R., Bardien, S., Mundlos, S., Beighton, P.
<strong>Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity.</strong>
J. Med. Genet. 33: 511-514, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8782054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8782054</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8782054" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.33.6.511" target="_blank">Full Text</a>]
</p>
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<a id="32" class="mim-anchor"></a>
<a id="Reed1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Reed, M. H., Houston, C. S.
<strong>Abnormal ossification of the hyoid bone in cleidocranial dysplasia.</strong>
Canad. Assoc. Radiol. J. 44: 277-279, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8348356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8348356</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8348356" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="33" class="mim-anchor"></a>
<a id="Selby1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Selby, P. B., Bolch, S. N., Mierzejewski, V. S., McKinley, T. W., Jr., Raymer, G. D.
<strong>Synergistic interactions between two skeletal mutations in mice: individual and combined effects of the semidominants cleidocranial dysplasia (Ccd) and short digits (Dsh).</strong>
J. Hered. 84: 466-474, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8270769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8270769</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8270769" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/oxfordjournals.jhered.a111373" target="_blank">Full Text</a>]
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<a id="Selby1978" class="mim-anchor"></a>
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Selby, P. B., Selby, P. R.
<strong>Gamma-ray-induced dominant mutations that cause skeletal abnormalities in mice. II. Description of proved mutations.</strong>
Mutat. Res. 51: 199-236, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/692541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">692541</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=692541" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0027-5107(78)80019-0" target="_blank">Full Text</a>]
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<a id="35" class="mim-anchor"></a>
<a id="Sillence1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sillence, D. O., Ritchie, H. E., Selby, P. B.
<strong>Skeletal anomalies in mice with cleidocranial dysplasia.</strong>
Am. J. Med. Genet. 27: 75-85, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3605208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3605208</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3605208" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320270109" target="_blank">Full Text</a>]
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<a id="36" class="mim-anchor"></a>
<a id="Unger2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Unger, S., Mornet, E., Mundlos, S., Blaser, S., Cole, D. E. C.
<strong>Severe cleidocranial dysplasia can mimic hypophosphatasia.</strong>
Europ. J. Pediat. 161: 623-626, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12424591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12424591</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12424591" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s00431-002-0978-9" target="_blank">Full Text</a>]
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<a id="Zackai1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zackai, E. H., Robin, N. H., McDonald-McGinn, D. M.
<strong>Sibs with cleidocranial dysplasia born to normal parents: germ line mosaicism?</strong>
Am. J. Med. Genet. 69: 348-351, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9098480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9098480</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9098480" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1096-8628(19970414)69:4&lt;348::aid-ajmg2&gt;3.0.co;2-h" target="_blank">Full Text</a>]
</p>
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<a id="38" class="mim-anchor"></a>
<a id="Zheng2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zheng, Q., Sebald, E., Zhou, G., Chen, Y., Wilcox, W., Lee, B., Krakow, D.
<strong>Dysregulation of chondrogenesis in human cleidocranial dysplasia.</strong>
Am. J. Hum. Genet. 77: 305-312, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15952089/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15952089</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15952089[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15952089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/432261" target="_blank">Full Text</a>]
</p>
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<a id="39" class="mim-anchor"></a>
<a id="Zhou1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zhou, G., Chen, Y., Zhou, L., Thirunavukkarasu, K., Hecht, J., Chitayat, D., Gelb, B. D., Pirinen, S., Berry, S. A., Greenberg, C. R., Karsenty, G., Lee, B.
<strong>CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.</strong>
Hum. Molec. Genet. 8: 2311-2316, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10545612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10545612</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10545612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/8.12.2311" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 10/24/2022
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Marla J. F. O'Neill - updated : 3/13/2013<br>George E. Tiller - updated : 8/17/2009<br>Cassandra L. Kniffin - updated : 7/10/2007<br>Marla J. F. O'Neill - updated : 1/12/2006<br>Marla J. F. O'Neill - updated : 8/31/2005<br>Victor A. McKusick - updated : 8/23/2004<br>Cassandra L. Kniffin - updated : 8/11/2004<br>Victor A. McKusick - updated : 11/13/2001<br>Victor A. McKusick - updated : 12/6/1999<br>Michael J. Wright - updated : 11/3/1999<br>Victor A. McKusick - updated : 6/17/1997<br>Victor A. McKusick - updated : 6/5/1997<br>Victor A. McKusick - updated : 5/27/1997<br>Iosif W. Lurie - updated : 6/26/1996
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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Victor A. McKusick : 6/23/1986
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carol : 10/02/2023
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carol : 09/29/2023<br>carol : 10/28/2022<br>carol : 10/24/2022<br>carol : 10/24/2022<br>carol : 11/22/2019<br>carol : 03/03/2017<br>joanna : 03/02/2017<br>carol : 03/13/2013<br>terry : 3/13/2013<br>alopez : 3/7/2013<br>alopez : 3/7/2013<br>carol : 5/20/2010<br>wwang : 8/17/2009<br>wwang : 8/22/2007<br>wwang : 7/18/2007<br>ckniffin : 7/10/2007<br>ckniffin : 7/10/2007<br>wwang : 6/1/2006<br>terry : 5/25/2006<br>wwang : 1/19/2006<br>terry : 1/12/2006<br>wwang : 8/31/2005<br>tkritzer : 1/20/2005<br>ckniffin : 12/10/2004<br>terry : 8/23/2004<br>carol : 8/11/2004<br>ckniffin : 8/11/2004<br>cwells : 12/7/2001<br>cwells : 12/3/2001<br>terry : 11/13/2001<br>carol : 4/12/2001<br>carol : 11/2/2000<br>carol : 7/11/2000<br>carol : 7/11/2000<br>alopez : 12/6/1999<br>carol : 11/15/1999<br>terry : 11/3/1999<br>carol : 10/21/1999<br>carol : 10/21/1999<br>terry : 5/20/1999<br>terry : 5/29/1998<br>alopez : 6/26/1997<br>alopez : 6/25/1997<br>alopez : 6/20/1997<br>alopez : 6/17/1997<br>terry : 6/5/1997<br>terry : 5/27/1997<br>carol : 6/26/1996<br>mark : 9/13/1995<br>carol : 2/6/1995<br>pfoster : 8/18/1994<br>mimadm : 6/25/1994<br>carol : 8/30/1993<br>carol : 7/6/1992
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<h3>
<span class="mim-font">
<strong>#</strong> 119600
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<h3>
<span class="mim-font">
CLEIDOCRANIAL DYSPLASIA 1; CLCD1
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<span class="mim-font">
<em>Alternative titles; symbols</em>
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<h4>
<span class="mim-font">
CLCD<br />
CLEIDOCRANIAL DYSOSTOSIS; CCD
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<p>
<span class="mim-font">
Other entities represented in this entry:
</span>
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<span class="h3 mim-font">
CLEIDOCRANIAL DYSPLASIA 1, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED
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<span class="h4 mim-font">
CLEIDOCRANIAL DYSPLASIA 1, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED
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<span class="mim-text-font">
<strong>SNOMEDCT:</strong> 65976001; &nbsp;
<strong>ICD10CM:</strong> Q74.0; &nbsp;
<strong>ORPHA:</strong> 1452; &nbsp;
<strong>DO:</strong> 13994; &nbsp;
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<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
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</thead>
<tbody>
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<td>
<span class="mim-font">
6p21.1
</span>
</td>
<td>
<span class="mim-font">
Cleidocranial dysplasia, forme fruste, with brachydactyly
</span>
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<td>
<span class="mim-font">
119600
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<td>
<span class="mim-font">
Autosomal dominant
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</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
RUNX2
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</td>
<td>
<span class="mim-font">
600211
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</td>
</tr>
<tr>
<td>
<span class="mim-font">
6p21.1
</span>
</td>
<td>
<span class="mim-font">
Cleidocranial dysplasia
</span>
</td>
<td>
<span class="mim-font">
119600
</span>
</td>
<td>
<span class="mim-font">
Autosomal dominant
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
RUNX2
</span>
</td>
<td>
<span class="mim-font">
600211
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
6p21.1
</span>
</td>
<td>
<span class="mim-font">
Cleidocranial dysplasia, forme fruste, dental anomalies only
</span>
</td>
<td>
<span class="mim-font">
119600
</span>
</td>
<td>
<span class="mim-font">
Autosomal dominant
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
RUNX2
</span>
</td>
<td>
<span class="mim-font">
600211
</span>
</td>
</tr>
</tbody>
</table>
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<h4>
<span class="mim-font">
<strong>TEXT</strong>
</span>
</h4>
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that cleidocranial dysplasia-1 (CLCD1) is caused by heterozygous loss-of-function mutation in the RUNX2 gene (600211), encoding transcription factor CBFA1, on chromosome 6p21.</p><p>Heterozygous duplication in RUNX2 resulting in a gain of function causes metaphyseal dysplasia and maxillary hypoplasia with or without brachydactyly (MDMHB; 156510).</p>
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<h4>
<span class="mim-font">
<strong>Description</strong>
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<p>The main clinical features of cleidocranial dysplasia (CLCD) include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation.</p><p><strong><em>Genetic Heterogeneity of Cleidocranial Dysplasia</em></strong></p><p>
CLCD2 (620099) is caused by mutation in the CBFB gene (121360) on chromosome 16q22.</p><p>See 168550 for a discussion of the combination of cleidocranial dysplasia and parietal foramina.</p><p>Mundlos (1999) provided a review of the clinical features of cleidocranial dysplasia and the molecular basis of this disorder. </p>
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<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>One of the most colorful families was described by Jackson (1951). The condition occurred in many descendants of a Chinese man named Arnold who embraced the Mohammedan religion and 7 wives in South Africa. Jackson (1951) was able to trace 356 descendants, of whom 70 were affected by the 'Arnold head.' Marie and Sainton (1898) published the original description of this family. Ramesar et al. (1996) estimated that more than 1,000 descendants of the first progenitor now have the disorder. </p><p>A family with delayed eruption of deciduous and permanent teeth reported by Arvystas (1976) probably had cleidocranial dysplasia. </p><p>Dore et al. (1987) described a 34-year-old woman with cleidocranial dysostosis and scoliosis diagnosed at age 13 years. The scoliosis continued to progress after skeletal maturation. Syringomyelia was diagnosed at the age of 34. The authors noted reports of 2 previous patients with cleidocranial dysostosis and syringomyelia and suggested that this association may be a more common problem than generally recognized. </p><p>Jensen (1990) studied development in 7 males and 10 females, aged 5 to 46 years, with CLCD; 11 were followed longitudinally. Height and radius length were decreased, especially in females. Longitudinal data showed growth retardation and slightly retarded skeletal maturation throughout childhood. The metacarpophalangeal pattern profile demonstrated great variation in bone length, presumably resulting from extra epiphyses in metacarpals II and V and from multiple cone-shaped epiphyses. Jensen (1990) concluded that CLCD is a generalized skeletal dysplasia. Chitayat et al. (1992) described the range of variability in affected members in 3 generations of a family. The propositus presented with respiratory distress due to a narrow thorax. The clavicles were hypoplastic with discontinuity in the central portions. A 17-year-old aunt of the proposita showed large fontanels and multiple wormian bones as well as a wide symphysis pubis with hypoplasia of the iliac bones. The 25-year-old mother of the proposita showed typical hand abnormalities by x-ray: thin metacarpal and metatarsal diaphyses of digits 2 to 5 and short middle phalanx of fingers 2 and 5. The grandmother likewise showed wormian bones. On the basis of a review of 13 patients, Reed and Houston (1993) concluded that underossification of the hyoid bone could be added to the delayed ossification that affects the skull, teeth, pelvis, and extremities in CLCD. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Other Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Cooper et al. (2001) assembled a series of 90 CLCD individuals and 56 relative controls ascertained from genetic and dental practices in the United States, Canada, Europe, and Australia. A number of previously unrecognized complications were significantly increased, including: genua valga, scoliosis, pes planus, sinus infections, upper respiratory complications, recurrent otitis media, and hearing loss. Primary cesarean section rate was significantly increased compared to relative controls and the general population rate. Dental abnormalities, including supernumerary teeth, failure of exfoliation of the primary dentition, and malocclusion, were found to be serious and complex problems that required intervention. Several clinical recommendations based on the findings of this study were presented: a hearing evaluation at birth and during early childhood; a team approach to the management of dental abnormalities on a long-term basis with the overall goal to provide an esthetic facial appearance and functioning occlusion by late adolescence or early adulthood; medical and surgical evaluation for the consequences of delayed craniofacial development (obstructive sleep apnea and sinusitis and otitis); and evaluation for submucous cleft palate. </p><p>Morava et al. (2002) reported a mother and daughter with CLCD who also had biochemical signs of hypophosphatasia (see 241500; 146300), including decreased levels of alkaline phosphatase (171760). Both patients had a heterozygous mutation in the RUNX2 gene (600211.0012), and the authors concluded that the mutation caused secondary features of hypophosphatasia. Unger et al. (2002) reported a similar patient with CLCD and osteopenia with decreased serum alkaline phosphatase. Radiographically, she had a Bowdler spur of the right fibula and was initially diagnosed with hypophosphatasia. Reevaluation at age 11 years revealed findings of classic CLCD, although no mutations were identified in the RUNX2 gene. Unger et al. (2002) concluded that osteopenia, osteoporosis, and decreased alkaline phosphatase may be underemphasized findings in CLCD, but likely occur only in a minority of patients. </p><p>Cogulu et al. (2004) described horseshoe kidney, hypospadias, and undescended testis in a patient with CLCD. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Diagnosis</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p><strong><em>Differential Diagnosis</em></strong></p><p>
Pycnodysostosis (265800) and mandibuloacral dysplasia (248370) are disorders to be considered in the differential diagnosis of cleidocranial dysplasia. Acroosteolysis and bone sclerosis with tendency to fracture are differentiating features of pycnodysostosis.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Cleidocranial dysplasia is an autosomal dominant disorder. However, Goodman et al. (1975) reported a family in which 2 brothers with cleidocranial dysplasia were born to unaffected first-cousin parents; he also reported a case born from a niece/uncle union. Several older reports of affected sibs with presumably normal parents were reviewed by Lasker (1946). Goodman et al. (1975) supported recessive inheritance of CLCD in the cases he studied. </p><p>Zackai et al. (1997) presented a family with 2 affected sisters born to nonconsanguineous and unaffected parents. They suggested germline mosaicism as the most likely mechanism. </p><p>Pal et al. (2007) reported 2 brothers and a maternal half brother with CLCD confirmed by genetic analysis. Initial DNA testing in the unaffected mother did not detect the mutation, but further testing using heteroduplex analysis applying high-resolution melting analysis, followed by subcloning, detected low-level somatic mosaicism in maternal blood and buccal swab. The findings indicated germline mosaicism in the mother as the inheritance mechanism for CLCD in this family. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Cytogenetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Nienhaus et al. (1993) proposed that the CLCD gene is located on either the long or the short arm of chromosome 6. They observed a male patient with a pericentric inversion of chromosome 6 and classic CLCD together with mild to moderate mental retardation, hearing deficiency, and unusual facial appearance. </p><p>Narahara et al. (1995) observed CLCD in association with a t(6;18)(p12;q24) translocation. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In 2 kindreds with typical features of CLCD, Mundlos et al. (1995) used the candidate gene approach to map the disorder to chromosome 6p. Linkage was established between CLCD and 4 loci--D6S426, D6S451, D6S459, and TCTE1 (186975)--that span a region of 10 cM on 6p. One highly polymorphic microsatellite from this region, D6S459, showed allelic loss in all affected members of 1 family with 2 different sets of primers. The presence of a deletion in this area was confirmed by Southern blot analysis using a probe derived from the amplification product of the D6S459 marker. Thus, the CLCD gene was assigned to 6p21. </p><p>Feldman et al. (1995) performed linkage studies in 5 families with CLCD, including 24 affected and 20 unaffected individuals, using microsatellite markers spanning 2 candidate regions on chromosomes 8q and 6. The strongest support for linkage was with the 6p marker D6S282, with a 2-point lod score of 4.84 at theta = 0.03. The multipoint lod score was 5.70 for location in the 19-cM interval between D6S282 and D6S291. Feldman et al. (1995) pointed out that the gene for bone morphogenetic protein-6 (BMP6; 112266) is located on chromosome 6 and that comparative mapping based on mouse-human homology (Copeland et al., 1993) would place BMP6 on human 6p, thus making BMP6 a candidate gene for CLCD. </p><p>Gelb et al. (1995) confirmed linkage of CLCD to 6p21. Based on their data and those described by Mundlos et al. (1995), they further refined the localization of CLCD to a 6-cM region of 6p21 that includes a microdeletion at D6S459. Ramesar et al. (1996) investigated the original family from South Africa and also showed linkage to 6p21.3-p21.1. The maximum lod score was 7.14 at theta = 0.00 with marker D6S459. Using their own and previous mapping data, they refined the localization of the CLCD gene to a 4- to 5-cM region between D6S451 and D6S465. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Mundlos et al. (1997) found the linkage to 6p21 in studies of 3 additional large families with 39 affected members. The region in which the refined localization placed the gene was covered by 14 yeast artificial chromosomes (YACs). Three known genes were identified within the contig: TCTE1 (186975), MUT (609058), and CBFA1 (600211). CBFA1 was a reasonable candidate gene for CLCD because a member of the 'runt' family had previously been described as a bone-specific nuclear-matrix-binding transcription factor. By fluorescence in situ hybridization to YACs, they confirmed the presence of a deletion on 6p in 1 family and enabled them to narrow the region to approximately 1.5 Mb. They also studied the patient with a pericentric inversion involving 6p21-q16 previously documented by Nienhaus et al. (1993) and found results supporting the assignment. Thus, in some families, the phenotype segregated with deletions, resulting in heterozygous loss of CBFA1. </p><p>In other families, Mundlos et al. (1997) found insertion, deletion, and missense mutations leading to translational stop codons in the DNA-binding domain or in the C-terminal transactivating region of the CBFA1 protein (see, e.g., 600211.0001; 600211.0003). In-frame expansion of a polyalanine stretch segregated in an affected family with brachydactyly and minor clinical findings of CLCD; see 600211.0003. Heterozygous loss of function of CBFA1 appeared to be sufficient to produce CLCD. </p><p>In 29 patients with CLCD from 19 unrelated families, Baumert et al. (2005) sequenced the RUNX2 gene and identified 12 different RUNX2 mutations. They examined phenotypic data using homogeneity analysis and observed mild to full-blown expression of the CLCD phenotype, with intrafamilial clinical variability. Baumert et al. (2005) commented that homogeneity analysis simplified grouping the patients into distinct entities, but noted that the analysis separated individuals with the same mutation, emphasizing the clinical variability within the patient cohort. </p><p>El-Gharbawy et al. (2010) studied a 7-year-old boy with CLCD complicated by severe progressive kyphoscoliosis, who also displayed features of hypophosphatasia (see 241500), including Bowdler spurs, severe osteopenia, and low alkaline phosphatase. After no RUNX2 mutation was found by sequencing, the authors performed array CGH and identified a 50- to 70-kb deletion that predicted a disruption of the C terminus of RUNX2, encompassing the coding sequence for amino acids 327 to 521 and involving the SMAD 1,2,3,5 binding sites and the nuclear matrix targeting signal (NMTS) regions. El-Gharbawy et al. (2010) emphasized the need to search for deletions when sequencing of the target gene is normal, and noted that the C-terminal region of RUNX2 appears to play an integral role in human osteogenesis and osteoblast differentiation. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>To correlate CBFA1 mutations in different functional domains with the CLCD clinical spectrum, Zhou et al. (1999) studied 26 independent cases of CLCD, and a total of 16 new mutations were identified in 17 families. Most mutations were de novo missense mutations that affected conserved residues in the runt domain and completely abolished both DNA binding and transactivation of a reporter gene. These, and mutations that resulted in premature termination in the runt domain, produced a classic CLCD phenotype by abolishing transactivation of the mutant protein with consequent haploinsufficiency. Zhou et al. (1999) further identified 3 putative hypomorphic mutations that resulted in a clinical spectrum including classic and mild CLCD, as well as an isolated dental phenotype characterized by delayed eruption of permanent teeth (600211.0010). Functional studies showed that 2 of the 3 mutations were hypomorphic in nature and 2 were associated with significant intrafamilial variability in expressivity, including isolated dental anomalies without the skeletal features of CLCD. Together these data showed that variable loss of function due to alterations in the runt and C-terminal proline/serine/threonine-rich (PST) activation domains of CBFA1 may give rise to clinical variability, including classic CLCD, mild CLCD, and isolated primary dental anomalies. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Pathogenesis</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Zheng et al. (2005) observed growth plate abnormalities in a patient with a 1-bp insertion (600211.0013) in the RUNX2 gene. Histologic analysis of the rib and long-bone cartilages showed a markedly diminished zone of hypertrophy; analysis of limb cartilage RNA revealed a 5- to 10-fold decrease in the hypertrophic chondrocyte molecular markers VEGF (192240), MMP13 (600108), and COL10A1 (120110). Zheng et al. (2005) concluded that humans with CLCD have altered endochondral ossification due to altered RUNX2 regulation of hypertrophic chondrocyte-specific genes during chondrocyte maturation. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Nomenclature</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Sillence et al. (1987) proposed the gene symbol CLCD for the mutation in both mouse and man; this symbol has also been used for 'central core disease' (117000). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Sillence et al. (1987) described cleidocranial dysplasia in mice. The change was radiation-induced and inherited as an autosomal dominant with variable expressivity but almost complete penetrance. The homozygous state was lethal in utero. The features were variable clavicular hypoplasia, delayed closure of cranial fontanels and sutures, and variable hypoplasia of pelvic bones, in particular, ischiopubic rami. Selby et al. (1993) investigated the interactions between 2 unlinked genes causing a semidominant skeletal dysplasia in mice: cleidocranial dysplasia (Ccd) and 'short digits' (Dsh). Each mutant is a homozygous lethal. The Ccd mutation was reported by Selby and Selby (1978). Selby et al. (1993) found that mice who were heterozygous for both mutations showed 7 different synergistic interactions, including one that yielded an entirely new abnormality not predicted from any abnormalities found in either of the single homozygotes. Although Selby et al. (1993) did not expect to find antagonistic interactions, they in fact found 3 in the double heterozygote. In all cases, the effects of Dsh were either partly or completely suppressed by Ccd. A classic example of comb shape in chickens in which interaction of 2 mutations at different loci led to a completely new phenotype was cited. </p><p>Lou et al. (2009) generated a mouse model of CLCD using a hypomorphic Runx2-mutant allele (neo7), in which only part of the transcript is processed to full-length Runx2. Runx2 neo7/neo7 mice expressed a reduced level of wildtype transcript (55 to 70%) and protein and had grossly normal skeletons with no abnormalities observed in the growth plate, but exhibited developmental defects in calvaria and clavicles that persisted through postnatal growth. Clavicle defects were caused by disrupted endochondral bone formation during embryogenesis. These hypomorphic mice had altered calvarial bone volume, as observed by histology and micro-CT imaging, and decreased expression of osteoblast marker genes. Runx2 neo7/+ mice had 79 to 84% of wildtype transcript and exhibited a normal bone phenotype. Lou et al. (2009) concluded that there is a critical gene dosage requirement of Runx2 for the formation of intramembranous bone tissues during embryogenesis and that a decrease to 70% of wildtype Runx2 levels results in the CLCD phenotype, whereas levels above 79% produce a normal skeleton, suggesting that the range of bone phenotypes in CLCD patients is attributable to quantitative reduction in the functional activity of RUNX2. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In a discussion of genetic skeletal dysplasias in the Museum of Pathological Anatomy in Vienna, Beighton et al. (1993) pictured the skeleton of a 25-year-old man with cleidocranial dysplasia who died in 1909 of tuberculous pneumonia. The skeleton showed the characteristic hypoplasia of the clavicles in association with a large, patent anterior fontanel. Other minor features were bilateral genu valgum and slight medial bowing of the tibia and fibula. </p><p>Brueton et al. (1992) presented 3 patients (mother, daughter, and an unrelated patient) with congenital clavicular hypoplasia or agenesis thought to have cleidocranial dysplasia due to chromosome 8q22 rearrangements and manifesting micrognathia, exophthalmos, and lack of a generalized skeletal dysplasia. Because 8q22 was disrupted in all 3 patients, Brueton et al. (1992) suggested that the gene(s) responsible for the cleidocranial dysplasia phenotype might be located in that region. However, Mundlos et al. (1995) demonstrated no linkage to the 8q22 region in 2 families with classic cleidocranial dysplasia. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Baumert et al. (2006); Harris et al. (1977); Kalliala and Taskinen
(1962); Lechelle et al. (1936); Levin and Sonnenschein (1963)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Arvystas, M. G.
<strong>Familial generalized delayed eruption of the dentition with short stature.</strong>
Oral Surg. Oral Med. Oral Path. 41: 235-243, 1976.
[PubMed: 1062752]
[Full Text: https://doi.org/10.1016/0030-4220(76)90235-8]
</p>
</li>
<li>
<p class="mim-text-font">
Baumert, U., Golan, I., Redlich, M., Aknin, J.-J., Muessig, D.
<strong>Cleidocranial dysplasia: molecular genetic analysis and phenotypic-based description of a Middle European patient group.</strong>
Am. J. Med. Genet. 139A: 78-85, 2005.
[PubMed: 16222673]
[Full Text: https://doi.org/10.1002/ajmg.a.30927]
</p>
</li>
<li>
<p class="mim-text-font">
Baumert, U., Golan, I., Redlich, M., Aknin, J.-J., Muessig, D.
<strong>Clarification of data reported in &#x27;Cleidocranial dysplasia: molecular genetic analysis and phenotypic-based description of a Middle European patient group&#x27; (AJMG 139A: 78-85) (Letter)</strong>
Am. J. Med. Genet. 140A: 1030 only, 2006.
[PubMed: 16575894]
[Full Text: https://doi.org/10.1002/ajmg.a.31182]
</p>
</li>
<li>
<p class="mim-text-font">
Beighton, P., Sujansky, E., Patzak, B., Portele, K. A.
<strong>Genetic skeletal dysplasias in the Museum of Pathological Anatomy, Vienna.</strong>
Am. J. Med. Genet. 47: 843-847, 1993.
[PubMed: 8279481]
[Full Text: https://doi.org/10.1002/ajmg.1320470609]
</p>
</li>
<li>
<p class="mim-text-font">
Brueton, L. A., Reeve, A., Ellis, R., Husband, P., Thompson, E. M., Kingston, H. M.
<strong>Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals.</strong>
Am. J. Med. Genet. 43: 612-618, 1992.
[PubMed: 1605259]
[Full Text: https://doi.org/10.1002/ajmg.1320430322]
</p>
</li>
<li>
<p class="mim-text-font">
Chitayat, D., Hodgkinson, K. A., Azouz, E. M.
<strong>Intrafamilial variability in cleidocranial dysplasia: a three generation family.</strong>
Am. J. Med. Genet. 42: 298-303, 1992.
[PubMed: 1536165]
[Full Text: https://doi.org/10.1002/ajmg.1320420307]
</p>
</li>
<li>
<p class="mim-text-font">
Cogulu, O., Munanoglu, D., Karaca, E., Onay, H., Ozkinay, F.
<strong>Cleidocranial dysplasia with new additional findings. (Letter)</strong>
Genet. Counsel. 15: 229-231, 2004.
[PubMed: 15287425]
</p>
</li>
<li>
<p class="mim-text-font">
Cooper, S. C., Flaitz, C. M., Johnston, D. A., Lee, B., Hecht, J. T.
<strong>A natural history of cleidocranial dysplasia.</strong>
Am. J. Med. Genet. 104: 1-6, 2001.
[PubMed: 11746020]
[Full Text: https://doi.org/10.1002/ajmg.10024]
</p>
</li>
<li>
<p class="mim-text-font">
Copeland, N. G., Jenkins, N. A., Gilbert, D. J., Eppig, J. T., Maltais, L. J., Miller, J. C., Dietrich, W. F., Weaver, A., Lincoln, S. E., Steen, R. G., Stein, L. D., Nadeau, J. H., Lander, E. S.
<strong>A genetic linkage map of the mouse: current applications and future prospects.</strong>
Science 262: 57-66, 1993.
[PubMed: 8211130]
[Full Text: https://doi.org/10.1126/science.8211130]
</p>
</li>
<li>
<p class="mim-text-font">
Dore, D. D., MacEwen, G. D., Boulos, M. I.
<strong>Cleidocranial dysostosis and syringomyelia: review of the literature and case report.</strong>
Clin. Orthop. Relat. Res. 214: 229-234, 1987.
[PubMed: 3791747]
</p>
</li>
<li>
<p class="mim-text-font">
El-Gharbawy, A. H., Peeden, J. N., Jr., Lachman, R. S., Graham, J. M., Jr., Moore, S. R., Rimoin, D. L.
<strong>Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2.</strong>
Am. J. Med. Genet. 152A: 169-174, 2010.
[PubMed: 20014132]
[Full Text: https://doi.org/10.1002/ajmg.a.33146]
</p>
</li>
<li>
<p class="mim-text-font">
Feldman, G. J., Robin, N. H., Brueton, L. A., Robertson, E., Thompson, E. M., Siegel-Bartelt, J., Gasser, D. L., Bailey, L. C., Zackai, E. H., Muenke, M.
<strong>A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.</strong>
Am. J. Hum. Genet. 56: 938-943, 1995.
[PubMed: 7717404]
</p>
</li>
<li>
<p class="mim-text-font">
Gelb, B. D., Cooper, E., Shevell, M., Desnick, R. J.
<strong>Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion.</strong>
Am. J. Med. Genet. 58: 200-205, 1995.
[PubMed: 8533817]
[Full Text: https://doi.org/10.1002/ajmg.1320580222]
</p>
</li>
<li>
<p class="mim-text-font">
Goodman, R. M., Tadmor, R., Zaritsky, A., Becker, S. A.
<strong>Evidence for an autosomal recessive form of cleidocranial dysostosis.</strong>
Clin. Genet. 8: 20-29, 1975.
[PubMed: 1149318]
[Full Text: https://doi.org/10.1111/j.1399-0004.1975.tb01950.x]
</p>
</li>
<li>
<p class="mim-text-font">
Harris, R. J., Gaston, G. W., Avery, J. E., McCuen, J. M.
<strong>Mandibular prognathism and apertognathia associated with cleidocranial dysostosis in a father and son.</strong>
Oral Surg. 44: 830-836, 1977.
[PubMed: 271922]
[Full Text: https://doi.org/10.1016/0030-4220(77)90026-3]
</p>
</li>
<li>
<p class="mim-text-font">
Jackson, W. P. U.
<strong>Osteo-dental dysplasia (cleido-cranial dysostosis). The &#x27;Arnold head&#x27;.</strong>
Acta Med. Scand. 139: 292-307, 1951.
[PubMed: 14818746]
</p>
</li>
<li>
<p class="mim-text-font">
Jensen, B. L.
<strong>Somatic development in cleidocranial dysplasia.</strong>
Am. J. Med. Genet. 35: 69-74, 1990.
[PubMed: 2301472]
[Full Text: https://doi.org/10.1002/ajmg.1320350113]
</p>
</li>
<li>
<p class="mim-text-font">
Kalliala, E., Taskinen, P. J.
<strong>Cleidocranial dysostosis: report of six typical cases and one atypical case.</strong>
Oral Surg. 15: 808-822, 1962.
[PubMed: 14453327]
[Full Text: https://doi.org/10.1016/0030-4220(62)90331-6]
</p>
</li>
<li>
<p class="mim-text-font">
Lasker, G. W.
<strong>The inheritance of cleidocranial dysostosis.</strong>
Hum. Biol. 18: 103-126, 1946.
[PubMed: 20285001]
</p>
</li>
<li>
<p class="mim-text-font">
Lechelle, P., Thevenard, A., Mignot, H.
<strong>Dysostose cleido-cranienne avec malformations vertebrales multiples et troubles nerveux: caractere familial des malformations.</strong>
Bull. Mem. Soc. Med. Hop. Paris 52: 1526-1530, 1936.
</p>
</li>
<li>
<p class="mim-text-font">
Levin, E. J., Sonnenschein, H.
<strong>Cleidocranial dysostosis.</strong>
New York J. Med. 63: 1562-1566, 1963.
[PubMed: 13930107]
</p>
</li>
<li>
<p class="mim-text-font">
Lou, Y., Javed, A., Hussain, S., Colby, J., Frederick, D., Pratap, J., Xie, R., Gaur, T., van Wijnen, A. J., Jones, S. J., Stein, G. S., Lian, J. B., Stein, J. L.
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[PubMed: 19028669]
[Full Text: https://doi.org/10.1093/hmg/ddn383]
</p>
</li>
<li>
<p class="mim-text-font">
Marie, P., Sainton, P.
<strong>Sur la dysostose cleido-cranienne herediataire.</strong>
Rev. Neurol. 6: 835, 1898. Note: English translation in Clin. Orthop. Relat. Res. 58: 5-7, 1968.
</p>
</li>
<li>
<p class="mim-text-font">
Morava, E., Karteszi, J., Weisenbach, J., Caliebe, A., Mundlos, S., Mehes, K.
<strong>Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.</strong>
Europ. J. Pediat. 161: 619-622, 2002.
[PubMed: 12424590]
[Full Text: https://doi.org/10.1007/s00431-002-0977-x]
</p>
</li>
<li>
<p class="mim-text-font">
Mundlos, S., Mulliken, J. B., Abramson, D. L., Warman, M. L., Knoll, J. H. M., Olsen, B. R.
<strong>Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family.</strong>
Hum. Molec. Genet. 4: 71-75, 1995.
[PubMed: 7711736]
[Full Text: https://doi.org/10.1093/hmg/4.1.71]
</p>
</li>
<li>
<p class="mim-text-font">
Mundlos, S., Otto, F., Mundlos, C., Mulliken, J. B., Aylsworth, A. S., Albright, S., Lindhout, D., Cole, W. G., Henn, W., Knoll, J. H. M., Owen, M. J., Mertelsmann, R., Zabel, B. U., Olsen, B. R.
<strong>Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.</strong>
Cell 89: 773-779, 1997.
[PubMed: 9182765]
[Full Text: https://doi.org/10.1016/s0092-8674(00)80260-3]
</p>
</li>
<li>
<p class="mim-text-font">
Mundlos, S.
<strong>Cleidocranial dysplasia: clinical and molecular genetics.</strong>
J. Med. Genet. 36: 177-182, 1999.
[PubMed: 10204840]
</p>
</li>
<li>
<p class="mim-text-font">
Narahara, K., Tsuji, K., Yokoyama, Y., Seino, Y.
<strong>Cleidocranial dysplasia associated with a t(6;18)(p12;q24) translocation. (Letter)</strong>
Am. J. Med. Genet. 56: 119-120, 1995.
[PubMed: 7747775]
[Full Text: https://doi.org/10.1002/ajmg.1320560128]
</p>
</li>
<li>
<p class="mim-text-font">
Nienhaus, H., Mau, U., Zang, K. D., Henn, W.
<strong>Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia.</strong>
Am. J. Med. Genet. 46: 630-631, 1993.
[PubMed: 8362902]
[Full Text: https://doi.org/10.1002/ajmg.1320460605]
</p>
</li>
<li>
<p class="mim-text-font">
Pal, T., Napierala, D., Becker, T. A., Loscalzo, M., Baldridge, D., Lee, B., Sutphen, R.
<strong>The presence of germ line mosaicism in cleidocranial dysplasia.</strong>
Clin. Genet. 71: 589-591, 2007.
[PubMed: 17539909]
[Full Text: https://doi.org/10.1111/j.1399-0004.2007.00812.x]
</p>
</li>
<li>
<p class="mim-text-font">
Ramesar, R. S., Greenberg, J., Martin, R., Goliath, R., Bardien, S., Mundlos, S., Beighton, P.
<strong>Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity.</strong>
J. Med. Genet. 33: 511-514, 1996.
[PubMed: 8782054]
[Full Text: https://doi.org/10.1136/jmg.33.6.511]
</p>
</li>
<li>
<p class="mim-text-font">
Reed, M. H., Houston, C. S.
<strong>Abnormal ossification of the hyoid bone in cleidocranial dysplasia.</strong>
Canad. Assoc. Radiol. J. 44: 277-279, 1993.
[PubMed: 8348356]
</p>
</li>
<li>
<p class="mim-text-font">
Selby, P. B., Bolch, S. N., Mierzejewski, V. S., McKinley, T. W., Jr., Raymer, G. D.
<strong>Synergistic interactions between two skeletal mutations in mice: individual and combined effects of the semidominants cleidocranial dysplasia (Ccd) and short digits (Dsh).</strong>
J. Hered. 84: 466-474, 1993.
[PubMed: 8270769]
[Full Text: https://doi.org/10.1093/oxfordjournals.jhered.a111373]
</p>
</li>
<li>
<p class="mim-text-font">
Selby, P. B., Selby, P. R.
<strong>Gamma-ray-induced dominant mutations that cause skeletal abnormalities in mice. II. Description of proved mutations.</strong>
Mutat. Res. 51: 199-236, 1978.
[PubMed: 692541]
[Full Text: https://doi.org/10.1016/s0027-5107(78)80019-0]
</p>
</li>
<li>
<p class="mim-text-font">
Sillence, D. O., Ritchie, H. E., Selby, P. B.
<strong>Skeletal anomalies in mice with cleidocranial dysplasia.</strong>
Am. J. Med. Genet. 27: 75-85, 1987.
[PubMed: 3605208]
[Full Text: https://doi.org/10.1002/ajmg.1320270109]
</p>
</li>
<li>
<p class="mim-text-font">
Unger, S., Mornet, E., Mundlos, S., Blaser, S., Cole, D. E. C.
<strong>Severe cleidocranial dysplasia can mimic hypophosphatasia.</strong>
Europ. J. Pediat. 161: 623-626, 2002.
[PubMed: 12424591]
[Full Text: https://doi.org/10.1007/s00431-002-0978-9]
</p>
</li>
<li>
<p class="mim-text-font">
Zackai, E. H., Robin, N. H., McDonald-McGinn, D. M.
<strong>Sibs with cleidocranial dysplasia born to normal parents: germ line mosaicism?</strong>
Am. J. Med. Genet. 69: 348-351, 1997.
[PubMed: 9098480]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19970414)69:4&lt;348::aid-ajmg2&gt;3.0.co;2-h]
</p>
</li>
<li>
<p class="mim-text-font">
Zheng, Q., Sebald, E., Zhou, G., Chen, Y., Wilcox, W., Lee, B., Krakow, D.
<strong>Dysregulation of chondrogenesis in human cleidocranial dysplasia.</strong>
Am. J. Hum. Genet. 77: 305-312, 2005.
[PubMed: 15952089]
[Full Text: https://doi.org/10.1086/432261]
</p>
</li>
<li>
<p class="mim-text-font">
Zhou, G., Chen, Y., Zhou, L., Thirunavukkarasu, K., Hecht, J., Chitayat, D., Gelb, B. D., Pirinen, S., Berry, S. A., Greenberg, C. R., Karsenty, G., Lee, B.
<strong>CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.</strong>
Hum. Molec. Genet. 8: 2311-2316, 1999.
[PubMed: 10545612]
[Full Text: https://doi.org/10.1093/hmg/8.12.2311]
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Marla J. F. O&#x27;Neill - updated : 10/24/2022<br>Marla J. F. O&#x27;Neill - updated : 3/13/2013<br>George E. Tiller - updated : 8/17/2009<br>Cassandra L. Kniffin - updated : 7/10/2007<br>Marla J. F. O&#x27;Neill - updated : 1/12/2006<br>Marla J. F. O&#x27;Neill - updated : 8/31/2005<br>Victor A. McKusick - updated : 8/23/2004<br>Cassandra L. Kniffin - updated : 8/11/2004<br>Victor A. McKusick - updated : 11/13/2001<br>Victor A. McKusick - updated : 12/6/1999<br>Michael J. Wright - updated : 11/3/1999<br>Victor A. McKusick - updated : 6/17/1997<br>Victor A. McKusick - updated : 6/5/1997<br>Victor A. McKusick - updated : 5/27/1997<br>Iosif W. Lurie - updated : 6/26/1996
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Victor A. McKusick : 6/23/1986
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