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<title>
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Entry
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- #168550 - PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA; PFMCCD
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- OMIM
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<span class="h4">#168550</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/168550"><strong>Clinical Synopsis</strong></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="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</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=(PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA) OR (MSX2)" 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=19622&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.diseaseinfosearch.org/x/9078" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=168550[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=251290" 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/361f326f-bb84-4a98-84bf-c05b941a175e/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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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div 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">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 771338002<br />
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<strong>ORPHA:</strong> 251290<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
|
168550
|
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</span>
|
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</span>
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</div>
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</div>
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA; PFMCCD
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</span>
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</h3>
|
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</div>
|
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<div>
|
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
CLEIDOCRANIAL DYSPLASIA WITH PARIETAL FORAMINA
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</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>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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<th>
|
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Gene/Locus
|
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</th>
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<th>
|
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Gene/Locus <br /> MIM number
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/5/779?start=-3&limit=10&highlight=779">
|
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5q35.2
|
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</a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Parietal foramina with cleidocranial dysplasia
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168550"> 168550 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
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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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MSX2
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123101"> 123101 </a>
|
|
</span>
|
|
</td>
|
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</tr>
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<a href="/clinicalSynopsis/168550" 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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PheneGene Graphics <span class="caret"></span>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/168550" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/168550" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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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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<strong> INHERITANCE </strong>
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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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<strong> HEAD & NECK </strong>
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- Persistent wide fontanel <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276709006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276709006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0456132&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0456132</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000239" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000239</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000239" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000239</a>]</span><br />
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<strong> CHEST </strong>
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<em> Ribs Sternum Clavicles & Scapulae </em>
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- Clavicular hypoplasia <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 />
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- Symmetrical, oval defects in the parietal bone <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/718099006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">718099006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002697" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002697</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004423</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002697" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002697</a>]</span><br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the msh homeobox 2 gene (MSX2, <a href="/entry/123101#0007">123101.0007</a>)<br />
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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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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<p>A number sign (#) is used with this entry because of evidence that parietal foramina with cleidocranial dysplasia is caused by heterozygous mutation in the MSX2 gene (<a href="/entry/123101">123101</a>) on chromosome 5q35.</p><p>See <a href="/entry/119600">119600</a> for a discussion of cleidocranial dysplasia and <a href="/entry/168500">168500</a> for a discussion of parietal foramina.</p>
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<p><a href="#1" class="mim-tip-reference" title="Eckstein, H. B., Hoare, R. D. <strong>Congenital parietal 'foramina' associated with faulty ossification of the clavicles.</strong> Brit. J. Radiol. 36: 220-221, 1963."None>Eckstein and Hoare (1963)</a> reported mother and son with parietal foramina and clavicular hypoplasia. <a href="#3" class="mim-tip-reference" title="Golabi, M., Carey, J., Hall, B. <strong>Parietal foramina-cleidocranial dysplasia: an autosomal dominant syndrome--report of second affected family. (Abstract)</strong> Proc. Greenwood Genet. Center 2: 116 only, 1983."None>Golabi et al. (1983)</a> reported a second family with 3 generations affected including male-to-male transmission.</p><p><a href="#2" class="mim-tip-reference" title="Garcia-Minaur, S., Mavrogiannis, L. A., Rannan-Eliya, S. V., Hendry, M. A., Liston, W. A., Porteous, M. E. M., Wilkie, A. O. M. <strong>Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2.</strong> Europ. J. Hum. Genet. 11: 892-895, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14571277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14571277</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201062" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14571277">Garcia-Minaur et al. (2003)</a> described a 3-generation family segregating parietal foramina with cleidocranial dysplasia. Affected family members exhibited classic parietal foramina and short abnormal clavicles with tapering lateral ends. They had mild craniofacial dysmorphism with a broad forehead and central bossing, which was more evident in the children. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14571277" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of PFMCCD in the families reported by <a href="#3" class="mim-tip-reference" title="Golabi, M., Carey, J., Hall, B. <strong>Parietal foramina-cleidocranial dysplasia: an autosomal dominant syndrome--report of second affected family. (Abstract)</strong> Proc. Greenwood Genet. Center 2: 116 only, 1983."None>Golabi et al. (1983)</a> and <a href="#2" class="mim-tip-reference" title="Garcia-Minaur, S., Mavrogiannis, L. A., Rannan-Eliya, S. V., Hendry, M. A., Liston, W. A., Porteous, M. E. M., Wilkie, A. O. M. <strong>Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2.</strong> Europ. J. Hum. Genet. 11: 892-895, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14571277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14571277</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201062" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14571277">Garcia-Minaur et al. (2003)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14571277" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Molecular Genetics</strong>
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<p>In a 3-generation family segregating parietal foramina with cleidocranial dysplasia, <a href="#2" class="mim-tip-reference" title="Garcia-Minaur, S., Mavrogiannis, L. A., Rannan-Eliya, S. V., Hendry, M. A., Liston, W. A., Porteous, M. E. M., Wilkie, A. O. M. <strong>Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2.</strong> Europ. J. Hum. Genet. 11: 892-895, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14571277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14571277</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201062" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14571277">Garcia-Minaur et al. (2003)</a> identified heterozygosity for a frameshift mutation in the homeodomain of the MSX2 gene predicting a termination codon 75 triplets downstream (<a href="/entry/123101#0007">123101.0007</a>). The authors concluded that PFMCCD is etiologically distinct from classic cleidocranial dysplasia, which is caused by mutations in the RUNX2 gene (<a href="/entry/600211">600211</a>), and is allelic to PFM1 (see <a href="/entry/168500">168500</a>), in which MSX2 mutations had previously been identified. <a href="#2" class="mim-tip-reference" title="Garcia-Minaur, S., Mavrogiannis, L. A., Rannan-Eliya, S. V., Hendry, M. A., Liston, W. A., Porteous, M. E. M., Wilkie, A. O. M. <strong>Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2.</strong> Europ. J. Hum. Genet. 11: 892-895, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14571277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14571277</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201062" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14571277">Garcia-Minaur et al. (2003)</a> also noted that the clavicular involvement was mild and difficult to assess on physical examination, and suggested that this finding may be more commonly associated with PFM than previously believed and may be characteristic of affected individuals with MSX2 rather than ALX4 (<a href="/entry/605420">605420</a>) mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14571277" 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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Eckstein, H. B., Hoare, R. D.
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<strong>Congenital parietal 'foramina' associated with faulty ossification of the clavicles.</strong>
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Brit. J. Radiol. 36: 220-221, 1963.
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Garcia-Minaur, S., Mavrogiannis, L. A., Rannan-Eliya, S. V., Hendry, M. A., Liston, W. A., Porteous, M. E. M., Wilkie, A. O. M.
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<strong>Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2.</strong>
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Europ. J. Hum. Genet. 11: 892-895, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14571277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14571277</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14571277" 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/sj.ejhg.5201062" target="_blank">Full Text</a>]
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Golabi, M., Carey, J., Hall, B.
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<strong>Parietal foramina-cleidocranial dysplasia: an autosomal dominant syndrome--report of second affected family. (Abstract)</strong>
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Proc. Greenwood Genet. Center 2: 116 only, 1983.
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Marla J. F. O'Neill - updated : 5/14/2004
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<span class="mim-text-font">
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Victor A. McKusick - updated : 6/5/1997
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Victor A. McKusick : 6/2/1986
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carol : 08/23/2016
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carol : 01/27/2016<br>carol : 7/23/2012<br>terry : 2/12/2009<br>carol : 5/18/2004<br>terry : 5/14/2004<br>terry : 6/5/1997<br>mimadm : 1/14/1995<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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<strong>#</strong> 168550
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PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA; PFMCCD
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<em>Alternative titles; symbols</em>
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CLEIDOCRANIAL DYSPLASIA WITH PARIETAL FORAMINA
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<strong>SNOMEDCT:</strong> 771338002;
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<strong>ORPHA:</strong> 251290;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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5q35.2
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Parietal foramina with cleidocranial dysplasia
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168550
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Autosomal dominant
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3
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MSX2
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123101
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<p>A number sign (#) is used with this entry because of evidence that parietal foramina with cleidocranial dysplasia is caused by heterozygous mutation in the MSX2 gene (123101) on chromosome 5q35.</p><p>See 119600 for a discussion of cleidocranial dysplasia and 168500 for a discussion of parietal foramina.</p>
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<strong>Clinical Features</strong>
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<p>Eckstein and Hoare (1963) reported mother and son with parietal foramina and clavicular hypoplasia. Golabi et al. (1983) reported a second family with 3 generations affected including male-to-male transmission.</p><p>Garcia-Minaur et al. (2003) described a 3-generation family segregating parietal foramina with cleidocranial dysplasia. Affected family members exhibited classic parietal foramina and short abnormal clavicles with tapering lateral ends. They had mild craniofacial dysmorphism with a broad forehead and central bossing, which was more evident in the children. </p>
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<p>The transmission pattern of PFMCCD in the families reported by Golabi et al. (1983) and Garcia-Minaur et al. (2003) was consistent with autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In a 3-generation family segregating parietal foramina with cleidocranial dysplasia, Garcia-Minaur et al. (2003) identified heterozygosity for a frameshift mutation in the homeodomain of the MSX2 gene predicting a termination codon 75 triplets downstream (123101.0007). The authors concluded that PFMCCD is etiologically distinct from classic cleidocranial dysplasia, which is caused by mutations in the RUNX2 gene (600211), and is allelic to PFM1 (see 168500), in which MSX2 mutations had previously been identified. Garcia-Minaur et al. (2003) also noted that the clavicular involvement was mild and difficult to assess on physical examination, and suggested that this finding may be more commonly associated with PFM than previously believed and may be characteristic of affected individuals with MSX2 rather than ALX4 (605420) mutations. </p>
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<strong>REFERENCES</strong>
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Eckstein, H. B., Hoare, R. D.
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<strong>Congenital parietal 'foramina' associated with faulty ossification of the clavicles.</strong>
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Brit. J. Radiol. 36: 220-221, 1963.
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Garcia-Minaur, S., Mavrogiannis, L. A., Rannan-Eliya, S. V., Hendry, M. A., Liston, W. A., Porteous, M. E. M., Wilkie, A. O. M.
|
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<strong>Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2.</strong>
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Europ. J. Hum. Genet. 11: 892-895, 2003.
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[PubMed: 14571277]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5201062]
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<p class="mim-text-font">
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Golabi, M., Carey, J., Hall, B.
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<strong>Parietal foramina-cleidocranial dysplasia: an autosomal dominant syndrome--report of second affected family. (Abstract)</strong>
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Proc. Greenwood Genet. Center 2: 116 only, 1983.
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 5/14/2004<br>Victor A. McKusick - updated : 6/5/1997
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Victor A. McKusick : 6/2/1986
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carol : 08/23/2016<br>carol : 01/27/2016<br>carol : 7/23/2012<br>terry : 2/12/2009<br>carol : 5/18/2004<br>terry : 5/14/2004<br>terry : 6/5/1997<br>mimadm : 1/14/1995<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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