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Entry
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- #156510 - METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY; MDMHB
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- OMIM
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<p>
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<span class="h4">#156510</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/156510"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</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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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div style="display: table-cell;">Clinical Resources</div>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=(METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH WITHOUT BRACHYDACTYLY) OR (RUNX2)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2316&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=156510[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2504" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/16242898-4c37-46fb-b6c6-44cd480bfd33/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</a>
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</span>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111513" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/156510" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111513" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 2504<br />
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<strong>DO:</strong> 0111513<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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156510
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY; MDMHB
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</span>
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</h3>
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</div>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/6/548?start=-3&limit=10&highlight=548">
|
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6p21.1
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</a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/156510"> 156510 </a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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RUNX2
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/600211"> 600211 </a>
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</span>
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</td>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/156510" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/156510" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/156510" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> Skel </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Metaphyseal dysplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27837003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27837003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q78.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q78.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265294&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265294</a>, <a href="https://bioportal.bioontology.org/search?q=C5194606&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5194606</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100255" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100255</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100255" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100255</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> Growth </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> Facies </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Maxillary hypoplasia <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.03</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240310</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000327</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000327</a>]</span><br /> - Short philtrum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861324&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861324</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000322</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=16ecf2e0f23dddf7b8b7cf447ceb827b" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Philtrum,Short-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=16ecf2e0f23dddf7b8b7cf447ceb827b" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> Nose </strong>
|
|
</span>
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
- Beaked nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000444" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000444</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000444" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000444</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> Mouth </strong>
|
|
</span>
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
- Thin lips <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/301348000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">301348000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0578038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0578038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000233" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000233</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000233" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000233</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> Teeth </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
- Dystrophic yellowish teeth<br /> - Early tooth loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42756003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42756003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0232513&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0232513</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006480" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006480</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006480" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006480</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> Limbs </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Short fifth metacarpal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861388&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861388</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010047</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010047</a>]</span><br /> - Short middle phalanx of fingers 2 and 5<br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> Radiology </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Enlarged sternal ends of clavicles<br /> - Flared metaphyses with thin cortex and osteoporosis, esp<br /> - proximal humerus, distal femur and proximal tibia<br /> - Platyspondyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844704&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844704</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000926" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000926</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000926" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000926</a>]</span><br /> - Multiple small vertebral fractures <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4025119&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4025119</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005877" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005877</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005877" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005877</a>]</span><br /> - Osteoporosis of vertebrae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4025170&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4025170</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005625" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005625</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005625" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005625</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> Inheritance </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- 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 />
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<div>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that metaphyseal dysplasia and maxillary hypoplasia with or without brachydactyly (MDMHB) is caused by heterozygous duplication resulting in a gain of function in the RUNX2 gene (<a href="/entry/600211">600211</a>) on chromosome 6p21.</p><p>Heterozygous loss-of-function mutation in the RUNX2 gene results in cleidocranial dysplasia (CCD; <a href="/entry/119600">119600</a>).</p>
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<br />
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<div>
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<a id="description" class="mim-anchor"></a>
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<p>Metaphyseal dysplasia and maxillary hypoplasia with or without brachydactyly (MDMHB) is an autosomal dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth (summary by <a href="#4" class="mim-tip-reference" title="Moffatt, P., Ben Amor, M., Glorieux, F. H., Roschger, P., Klaushofer, K., Schwartzentruber, J. A., Paterson, A. D., Hu, P., Marshall, C., FORGE Canada Consortium, Fahiminiya, S., Majewski, J., Beaulieu, C. L., Boycott, K. M., Rauch, F. <strong>Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.</strong> Am. J. Hum. Genet. 92: 252-258, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23290074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23290074</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23290074[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.12.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23290074">Moffatt et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23290074" 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="#3" class="mim-tip-reference" title="Halal, F., Picard, J.-L., Raymond-Tremblay, D., de Bosset, P. <strong>Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly.</strong> Am. J. Med. Genet. 13: 71-79, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7137223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7137223</a>] [<a href="https://doi.org/10.1002/ajmg.1320130112" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7137223">Halal et al. (1982)</a> reported a characteristic syndrome in 4 generations of a French Canadian family. The features were metaphyseal dysplasia with short stature (about 152 cm in both sexes); beaked nose, short philtrum, thin lips, maxillary hypoplasia, 'dystrophic' yellowish teeth with early loss and short metacarpal 5 and/or short middle phalanx of fingers 2 and 5. Skeletal roentgenograms in adults showed 'massive enlargement of the sternal ends of the clavicles; flaring of the metaphyses with thin cortex and osteoporosis most striking in the proximal humerus, distal femur and proximal tibia; platyspondyly, multiple small vertebral fractures, and osteoporosis of the vertebrae.' Male-to-male transmission was observed in 2 instances. Similarities to oculodentodigital dysplasia (<a href="/entry/164200">164200</a>) were noted, but important differences, particularly lack of ocular manifestations, in this syndrome speak for its distinctness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7137223" 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="#4" class="mim-tip-reference" title="Moffatt, P., Ben Amor, M., Glorieux, F. H., Roschger, P., Klaushofer, K., Schwartzentruber, J. A., Paterson, A. D., Hu, P., Marshall, C., FORGE Canada Consortium, Fahiminiya, S., Majewski, J., Beaulieu, C. L., Boycott, K. M., Rauch, F. <strong>Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.</strong> Am. J. Hum. Genet. 92: 252-258, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23290074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23290074</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23290074[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.12.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23290074">Moffatt et al. (2013)</a> studied a 4-generation French Canadian family that was from the same region of Quebec (Gaspesie) as the family reported by <a href="#3" class="mim-tip-reference" title="Halal, F., Picard, J.-L., Raymond-Tremblay, D., de Bosset, P. <strong>Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly.</strong> Am. J. Med. Genet. 13: 71-79, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7137223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7137223</a>] [<a href="https://doi.org/10.1002/ajmg.1320130112" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7137223">Halal et al. (1982)</a> and had a very similar phenotype. Histomorphometric analysis of transiliac bone biopsy samples showed thin cortices and a low amount of trabecular bone. Mineral apposition rate, a marker of bone formation, was low, suggesting a defect in osteoblast function, whereas osteoclast surface, a marker of bone resorption, was normal. Biochemical parameters of bone and mineral metabolism were mostly within normal limits. Lumbar spine bone mineral density was low in some affected individuals but normal in others; however, peripheral quantitative CT of the radius showed that cortices were very thin at both the metaphysis and the diaphysis. In affected individuals, osteocyte density was 32% lower than that of age-matched controls, although the material density of trabecular bone was slightly increased compared to controls. <a href="#4" class="mim-tip-reference" title="Moffatt, P., Ben Amor, M., Glorieux, F. H., Roschger, P., Klaushofer, K., Schwartzentruber, J. A., Paterson, A. D., Hu, P., Marshall, C., FORGE Canada Consortium, Fahiminiya, S., Majewski, J., Beaulieu, C. L., Boycott, K. M., Rauch, F. <strong>Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.</strong> Am. J. Hum. Genet. 92: 252-258, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23290074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23290074</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23290074[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.12.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23290074">Moffatt et al. (2013)</a> noted that brachydactyly, which was an inconsistent feature in the family described by <a href="#3" class="mim-tip-reference" title="Halal, F., Picard, J.-L., Raymond-Tremblay, D., de Bosset, P. <strong>Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly.</strong> Am. J. Med. Genet. 13: 71-79, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7137223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7137223</a>] [<a href="https://doi.org/10.1002/ajmg.1320130112" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7137223">Halal et al. (1982)</a>, was not observed in affected individuals from this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7137223+23290074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Avela, K., Hirvinen, H., Ben Amor, M., Rauch, F. <strong>Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly in a Finnish woman: first confirmation of a duplication in RUNX2 as pathogenic variant.</strong> Europ. J. Med. Genet. 57: 617-620, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25311905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25311905</a>] [<a href="https://doi.org/10.1016/j.ejmg.2014.09.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25311905">Avela et al. (2014)</a> described a 20-year-old Finnish patient with clinical and radiologic findings of MDMHB. The patient had a normal birth length, but by age 20 years, her height was at the 3rd centile. She had frequent bone pain, especially affecting her knees. Facial features included micrognathia, beaked nose, and thin lips. Radiographs showed a thick cranial vault, bilateral brachydactyly, metaphyseal flaring at multiple locations, widened clavicles, and irregularly shaped vertebrae. Bones were osteoporotic based on radiographs and bone densitometry. Teeth were small and fragile. Primary tooth resorption was deficient, requiring extraction, and eruption of permanent teeth was delayed. No teeth were missing congenitally. The patient also had a hypoplastic maxilla and retrognathic mandible. Her mother, who had short stature (155 cm at age 46 years), had no brachydactyly on clinical exam, but had oligodontia with 5 congenitally missing teeth. Teeth were small with browning enamel and short roots. She had a progenic mandible and retrusive maxilla. Both mother and daughter had normal psychomotor development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25311905" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Al-Yassin, A., Calder, A. D., Harrison, M., Lester, T., Lord, H., Oldridge, M., Watkins, S., Keen, R., Wakeling, E. L. <strong>A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.</strong> Europ. J. Hum. Genet. 26: 1288-1293, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29891876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29891876</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29891876[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41431-018-0166-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29891876">Al-Yassin et al. (2018)</a> reported 3 affected female members of a 3-generation family with MDMHB. The proband, her mother, and her maternal grandmother were short, with heights at the 0.4th, 9th, and 2nd centile, respectively. All 3 had dystrophic yellowish teeth, maxillary hypoplasia, metaphyseal dysplasia, and clavicular broadening. Two patients had delayed closure of the anterior fontanel, and 1 had osteoporosis and brachydactyly <a href="#1" class="mim-tip-reference" title="Al-Yassin, A., Calder, A. D., Harrison, M., Lester, T., Lord, H., Oldridge, M., Watkins, S., Keen, R., Wakeling, E. L. <strong>A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.</strong> Europ. J. Hum. Genet. 26: 1288-1293, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29891876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29891876</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29891876[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41431-018-0166-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29891876">Al-Yassin et al. (2018)</a> emphasized the importance of considering an underlying skeletal dysplasia in patients with significant dental problems and other suggestive features, including disproportionate short stature and digital anomalies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29891876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of MDMHB in the family reported by <a href="#4" class="mim-tip-reference" title="Moffatt, P., Ben Amor, M., Glorieux, F. H., Roschger, P., Klaushofer, K., Schwartzentruber, J. A., Paterson, A. D., Hu, P., Marshall, C., FORGE Canada Consortium, Fahiminiya, S., Majewski, J., Beaulieu, C. L., Boycott, K. M., Rauch, F. <strong>Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.</strong> Am. J. Hum. Genet. 92: 252-258, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23290074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23290074</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23290074[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.12.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23290074">Moffatt et al. (2013)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23290074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using DNA from 5 affected and 4 unaffected members of a 4-generation French Canadian family segregating autosomal dominant metaphyseal dysplasia and maxillary hypoplasia with or without brachydactyly (MDMHB), <a href="#4" class="mim-tip-reference" title="Moffatt, P., Ben Amor, M., Glorieux, F. H., Roschger, P., Klaushofer, K., Schwartzentruber, J. A., Paterson, A. D., Hu, P., Marshall, C., FORGE Canada Consortium, Fahiminiya, S., Majewski, J., Beaulieu, C. L., Boycott, K. M., Rauch, F. <strong>Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.</strong> Am. J. Hum. Genet. 92: 252-258, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23290074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23290074</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23290074[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.12.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23290074">Moffatt et al. (2013)</a> performed whole-genome SNP genotyping and obtained the maximum achievable lod score of 2.1 for regions on chromosomes 6, 11, and 15. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23290074" 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 4-generation French Canadian family with MDMHB, <a href="#4" class="mim-tip-reference" title="Moffatt, P., Ben Amor, M., Glorieux, F. H., Roschger, P., Klaushofer, K., Schwartzentruber, J. A., Paterson, A. D., Hu, P., Marshall, C., FORGE Canada Consortium, Fahiminiya, S., Majewski, J., Beaulieu, C. L., Boycott, K. M., Rauch, F. <strong>Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.</strong> Am. J. Hum. Genet. 92: 252-258, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23290074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23290074</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23290074[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.12.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23290074">Moffatt et al. (2013)</a> analyzed SNP array data for copy number variation and found that all affected individuals had a 105-kb duplication within the linked region on chromosome 6 (chr6:45,308,920-45,413,885, GRCh37), comprising exons 3 to 5 of the RUNX2 gene (<a href="/entry/600211#0014">600211.0014</a>), that was absent in unaffected family members. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23290074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 20-year-old Finnish woman with MDMHB, <a href="#2" class="mim-tip-reference" title="Avela, K., Hirvinen, H., Ben Amor, M., Rauch, F. <strong>Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly in a Finnish woman: first confirmation of a duplication in RUNX2 as pathogenic variant.</strong> Europ. J. Med. Genet. 57: 617-620, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25311905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25311905</a>] [<a href="https://doi.org/10.1016/j.ejmg.2014.09.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25311905">Avela et al. (2014)</a> identified heterozygosity for an intragenic duplication in RUNX2 encompassing exons 3 to 5. Similar to the duplication reported by <a href="#4" class="mim-tip-reference" title="Moffatt, P., Ben Amor, M., Glorieux, F. H., Roschger, P., Klaushofer, K., Schwartzentruber, J. A., Paterson, A. D., Hu, P., Marshall, C., FORGE Canada Consortium, Fahiminiya, S., Majewski, J., Beaulieu, C. L., Boycott, K. M., Rauch, F. <strong>Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.</strong> Am. J. Hum. Genet. 92: 252-258, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23290074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23290074</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23290074[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.12.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23290074">Moffatt et al. (2013)</a>, the duplication breakpoints were in intron 2 and intron 5; the location of the breakpoints differed, but the exact breakpoints in the Finnish patient were not identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25311905+23290074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 affected members of a 3-generation family with MDMHB, <a href="#1" class="mim-tip-reference" title="Al-Yassin, A., Calder, A. D., Harrison, M., Lester, T., Lord, H., Oldridge, M., Watkins, S., Keen, R., Wakeling, E. L. <strong>A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.</strong> Europ. J. Hum. Genet. 26: 1288-1293, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29891876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29891876</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29891876[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41431-018-0166-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29891876">Al-Yassin et al. (2018)</a> identified heterozygosity for an intragenic tandem duplication of RUNX2 exons 3-6 (<a href="/entry/600211#0015">600211.0015</a>). Further analysis showed that exon 3 was spliced to exon 6, confirming a tandem duplication, which was predicted to be in-frame. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29891876" 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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Al-Yassin, A., Calder, A. D., Harrison, M., Lester, T., Lord, H., Oldridge, M., Watkins, S., Keen, R., Wakeling, E. L.
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<strong>A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.</strong>
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Europ. J. Hum. Genet. 26: 1288-1293, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29891876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29891876</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29891876[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=29891876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/s41431-018-0166-7" target="_blank">Full Text</a>]
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Avela, K., Hirvinen, H., Ben Amor, M., Rauch, F.
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<strong>Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly in a Finnish woman: first confirmation of a duplication in RUNX2 as pathogenic variant.</strong>
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Europ. J. Med. Genet. 57: 617-620, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25311905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25311905</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25311905" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ejmg.2014.09.010" target="_blank">Full Text</a>]
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Halal, F., Picard, J.-L., Raymond-Tremblay, D., de Bosset, P.
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<strong>Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly.</strong>
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Am. J. Med. Genet. 13: 71-79, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7137223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7137223</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7137223" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320130112" target="_blank">Full Text</a>]
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Moffatt, P., Ben Amor, M., Glorieux, F. H., Roschger, P., Klaushofer, K., Schwartzentruber, J. A., Paterson, A. D., Hu, P., Marshall, C., FORGE Canada Consortium, Fahiminiya, S., Majewski, J., Beaulieu, C. L., Boycott, K. M., Rauch, F.
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<strong>Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.</strong>
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Am. J. Hum. Genet. 92: 252-258, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23290074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23290074</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23290074[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=23290074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2012.12.001" target="_blank">Full Text</a>]
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Sonja A. Rasmussen - updated : 03/20/2019
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Victor A. McKusick : 6/2/1986
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carol : 03/20/2019<br>alopez : 02/19/2015<br>alopez : 3/7/2013<br>terry : 3/5/2013<br>mimadm : 11/6/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988<br>reenie : 6/2/1986
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METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY; MDMHB
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Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
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<p>A number sign (#) is used with this entry because of evidence that metaphyseal dysplasia and maxillary hypoplasia with or without brachydactyly (MDMHB) is caused by heterozygous duplication resulting in a gain of function in the RUNX2 gene (600211) on chromosome 6p21.</p><p>Heterozygous loss-of-function mutation in the RUNX2 gene results in cleidocranial dysplasia (CCD; 119600).</p>
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<p>Metaphyseal dysplasia and maxillary hypoplasia with or without brachydactyly (MDMHB) is an autosomal dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth (summary by Moffatt et al., 2013). </p>
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<p>Halal et al. (1982) reported a characteristic syndrome in 4 generations of a French Canadian family. The features were metaphyseal dysplasia with short stature (about 152 cm in both sexes); beaked nose, short philtrum, thin lips, maxillary hypoplasia, 'dystrophic' yellowish teeth with early loss and short metacarpal 5 and/or short middle phalanx of fingers 2 and 5. Skeletal roentgenograms in adults showed 'massive enlargement of the sternal ends of the clavicles; flaring of the metaphyses with thin cortex and osteoporosis most striking in the proximal humerus, distal femur and proximal tibia; platyspondyly, multiple small vertebral fractures, and osteoporosis of the vertebrae.' Male-to-male transmission was observed in 2 instances. Similarities to oculodentodigital dysplasia (164200) were noted, but important differences, particularly lack of ocular manifestations, in this syndrome speak for its distinctness. </p><p>Moffatt et al. (2013) studied a 4-generation French Canadian family that was from the same region of Quebec (Gaspesie) as the family reported by Halal et al. (1982) and had a very similar phenotype. Histomorphometric analysis of transiliac bone biopsy samples showed thin cortices and a low amount of trabecular bone. Mineral apposition rate, a marker of bone formation, was low, suggesting a defect in osteoblast function, whereas osteoclast surface, a marker of bone resorption, was normal. Biochemical parameters of bone and mineral metabolism were mostly within normal limits. Lumbar spine bone mineral density was low in some affected individuals but normal in others; however, peripheral quantitative CT of the radius showed that cortices were very thin at both the metaphysis and the diaphysis. In affected individuals, osteocyte density was 32% lower than that of age-matched controls, although the material density of trabecular bone was slightly increased compared to controls. Moffatt et al. (2013) noted that brachydactyly, which was an inconsistent feature in the family described by Halal et al. (1982), was not observed in affected individuals from this family. </p><p>Avela et al. (2014) described a 20-year-old Finnish patient with clinical and radiologic findings of MDMHB. The patient had a normal birth length, but by age 20 years, her height was at the 3rd centile. She had frequent bone pain, especially affecting her knees. Facial features included micrognathia, beaked nose, and thin lips. Radiographs showed a thick cranial vault, bilateral brachydactyly, metaphyseal flaring at multiple locations, widened clavicles, and irregularly shaped vertebrae. Bones were osteoporotic based on radiographs and bone densitometry. Teeth were small and fragile. Primary tooth resorption was deficient, requiring extraction, and eruption of permanent teeth was delayed. No teeth were missing congenitally. The patient also had a hypoplastic maxilla and retrognathic mandible. Her mother, who had short stature (155 cm at age 46 years), had no brachydactyly on clinical exam, but had oligodontia with 5 congenitally missing teeth. Teeth were small with browning enamel and short roots. She had a progenic mandible and retrusive maxilla. Both mother and daughter had normal psychomotor development. </p><p>Al-Yassin et al. (2018) reported 3 affected female members of a 3-generation family with MDMHB. The proband, her mother, and her maternal grandmother were short, with heights at the 0.4th, 9th, and 2nd centile, respectively. All 3 had dystrophic yellowish teeth, maxillary hypoplasia, metaphyseal dysplasia, and clavicular broadening. Two patients had delayed closure of the anterior fontanel, and 1 had osteoporosis and brachydactyly Al-Yassin et al. (2018) emphasized the importance of considering an underlying skeletal dysplasia in patients with significant dental problems and other suggestive features, including disproportionate short stature and digital anomalies. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of MDMHB in the family reported by Moffatt et al. (2013) was consistent with autosomal dominant inheritance. </p>
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<strong>Mapping</strong>
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<p>Using DNA from 5 affected and 4 unaffected members of a 4-generation French Canadian family segregating autosomal dominant metaphyseal dysplasia and maxillary hypoplasia with or without brachydactyly (MDMHB), Moffatt et al. (2013) performed whole-genome SNP genotyping and obtained the maximum achievable lod score of 2.1 for regions on chromosomes 6, 11, and 15. </p>
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<strong>Molecular Genetics</strong>
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<p>In a 4-generation French Canadian family with MDMHB, Moffatt et al. (2013) analyzed SNP array data for copy number variation and found that all affected individuals had a 105-kb duplication within the linked region on chromosome 6 (chr6:45,308,920-45,413,885, GRCh37), comprising exons 3 to 5 of the RUNX2 gene (600211.0014), that was absent in unaffected family members. </p><p>In a 20-year-old Finnish woman with MDMHB, Avela et al. (2014) identified heterozygosity for an intragenic duplication in RUNX2 encompassing exons 3 to 5. Similar to the duplication reported by Moffatt et al. (2013), the duplication breakpoints were in intron 2 and intron 5; the location of the breakpoints differed, but the exact breakpoints in the Finnish patient were not identified. </p><p>In 3 affected members of a 3-generation family with MDMHB, Al-Yassin et al. (2018) identified heterozygosity for an intragenic tandem duplication of RUNX2 exons 3-6 (600211.0015). Further analysis showed that exon 3 was spliced to exon 6, confirming a tandem duplication, which was predicted to be in-frame. </p>
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<strong>REFERENCES</strong>
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Al-Yassin, A., Calder, A. D., Harrison, M., Lester, T., Lord, H., Oldridge, M., Watkins, S., Keen, R., Wakeling, E. L.
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<strong>A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.</strong>
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Europ. J. Hum. Genet. 26: 1288-1293, 2018.
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[PubMed: 29891876]
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[Full Text: https://doi.org/10.1038/s41431-018-0166-7]
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Avela, K., Hirvinen, H., Ben Amor, M., Rauch, F.
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<strong>Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly in a Finnish woman: first confirmation of a duplication in RUNX2 as pathogenic variant.</strong>
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Europ. J. Med. Genet. 57: 617-620, 2014.
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[PubMed: 25311905]
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[Full Text: https://doi.org/10.1016/j.ejmg.2014.09.010]
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<li>
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Halal, F., Picard, J.-L., Raymond-Tremblay, D., de Bosset, P.
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<strong>Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly.</strong>
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Am. J. Med. Genet. 13: 71-79, 1982.
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[PubMed: 7137223]
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[Full Text: https://doi.org/10.1002/ajmg.1320130112]
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Moffatt, P., Ben Amor, M., Glorieux, F. H., Roschger, P., Klaushofer, K., Schwartzentruber, J. A., Paterson, A. D., Hu, P., Marshall, C., FORGE Canada Consortium, Fahiminiya, S., Majewski, J., Beaulieu, C. L., Boycott, K. M., Rauch, F.
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<strong>Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.</strong>
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Am. J. Hum. Genet. 92: 252-258, 2013.
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[PubMed: 23290074]
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[Full Text: https://doi.org/10.1016/j.ajhg.2012.12.001]
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Sonja A. Rasmussen - updated : 03/20/2019<br>Marla J. F. O'Neill - updated : 3/5/2013
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Victor A. McKusick : 6/2/1986
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