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- #305620 - FRONTOMETAPHYSEAL DYSPLASIA 1; FMD1
- OMIM
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<span class="h4">#305620</span>
<br />
<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/305620"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS305620"> <strong>Phenotypic Series</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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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=FRONTOMETAPHYSEAL DYSPLASIA" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111786" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/305620" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:0111786" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>ORPHA:</strong> 1826<br />
<strong>DO:</strong> 0111786<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
305620
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
FRONTOMETAPHYSEAL DYSPLASIA 1; FMD1
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
FMD
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/857?start=-3&limit=10&highlight=857">
Xq28
</a>
</span>
</td>
<td>
<span class="mim-font">
Frontometaphyseal dysplasia 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/305620"> 305620 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
FLNA
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300017"> 300017 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/305620" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS305620" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/305620" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/305620" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Coarse facies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845847&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845847</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000280</a>]</span><br /> -
Prominent supraorbital ridges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842060&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842060</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000336</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000336</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7cb29211bc76e7649d907f6b03ef78ed" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Supraorbital_Ridges,Prominent-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=7cb29211bc76e7649d907f6b03ef78ed&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Small pointed chin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844505&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844505</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000307</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000307</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Progressive mixed conductive and sensorineural hearing loss <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844506&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844506</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Downslanting palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246800008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246800008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423110&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423110</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Wide nasal bridge <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249321001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249321001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849367&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849367</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000431</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000431</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3f6587f50506c9d70db0628b3fa5f2c5" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nasal_Bridge,Wide-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=3f6587f50506c9d70db0628b3fa5f2c5&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- High palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=c606b0119d4a894ebd5ee0242c136e29" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Palate,High-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=c606b0119d4a894ebd5ee0242c136e29&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Teeth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Selective tooth agenesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/787414001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">787414001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4082304&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4082304</a>, <a href="https://bioportal.bioontology.org/search?q=C1970308&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970308</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001592" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001592</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001592" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001592</a>]</span><br /> -
Delayed tooth eruption <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5639000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5639000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239174&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239174</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000684</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000684</a>]</span><br /> -
Retained deciduous teeth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57650002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57650002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1172951004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1172951004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266050&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266050</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006335" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006335</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006335" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006335</a>]</span><br /> -
Malocclusion <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/707598004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">707598004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/47944004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">47944004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000689" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000689</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000689" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000689</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Mitral valve prolapse <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409712001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409712001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8074002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8074002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026267&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026267</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001634</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001634</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Airways </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Subglottic tracheal narrowing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844523&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844523</a>]</span><br /> -
Congenital stridor <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0858233&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0858233</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Lung </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cor pulmonale <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/79955004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">79955004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/83291003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">83291003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I27.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I27.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I27.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I27.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/416" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">416</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/416.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">416.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034072&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034072</a>, <a href="https://bioportal.bioontology.org/search?q=C0238074&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0238074</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001648</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001648</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CHEST </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Ribs Sternum Clavicles & Scapulae </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Winged scapulae <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240953&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240953</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003691</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003691</a>]</span><br /> -
Irregular rib contours <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844503&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844503</a>]</span><br /> -
"Coat hanger" deformity of lower ribs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844504&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844504</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hydronephrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43064006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43064006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.30</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/591" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">591</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020295</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ureters </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hydroureter <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/69758005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">69758005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95576001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95576001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N28.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N28.82</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/593.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">593.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521620&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521620</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000072</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000072</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skull </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Incomplete sinus development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844507&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844507</a>]</span><br /> -
Wide foramen magnum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844508&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844508</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002700" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002700</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002700" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002700</a>]</span><br /> -
Antegonial notching of mandible <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844509&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844509</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003779" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003779</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003779" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003779</a>]</span><br /> -
Hypoplastic condyloid process <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844510&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844510</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Wide interpedicular distance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844511&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844511</a>]</span><br /> -
Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br /> -
Cervical vertebral fusion <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/388981000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">388981000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5601008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5601008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/756.16" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">756.16</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3887527&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887527</a>, <a href="https://bioportal.bioontology.org/search?q=C0022738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004602" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004602</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002949" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002949</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002949" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002949</a>]</span><br /> -
Anteriorly placed odontoid process <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844512&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844512</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004608" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004608</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004608" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004608</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Pelvis </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Flared pelvis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844513&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844513</a>]</span><br /> -
Coxa valga <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33754009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33754009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16979000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16979000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299236004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299236004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q65.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q65.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.61</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/736.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158480</a>, <a href="https://bioportal.bioontology.org/search?q=C0152430&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152430</a>, <a href="https://bioportal.bioontology.org/search?q=C0239137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239137</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002673" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002673</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002673" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002673</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Elbow contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/239734000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">239734000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.52</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833142&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833142</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034391" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034391</a>]</span><br /> -
Knee and ankle contractures <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844514</a>]</span><br /> -
Erlenmeyer-flask appearance of femur and tibia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844515&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844515</a>]</span><br /> -
Genu valgum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299330008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299330008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52012001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52012001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.06" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.06</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158484&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158484</a>, <a href="https://bioportal.bioontology.org/search?q=C0576093&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0576093</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002857" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002857</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002857" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002857</a>]</span><br /> -
Increased density of long bone diaphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844516&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844516</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006440" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006440</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006440" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006440</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Finger and wrist contractures <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844517&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844517</a>]</span><br /> -
Arachnodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62250003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62250003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001166" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001166</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001519</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001166" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001166</a>]</span><br /> -
Wide and elongated phalanges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844518&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844518</a>]</span><br /> -
Partial fusion of carpals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844519&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844519</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006207" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006207</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006207" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006207</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Large feet <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299462005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299462005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0576225&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0576225</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001833" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001833</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001833" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001833</a>]</span><br /> -
Partial fusion of tarsals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844520&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844520</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008097</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008097</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hirsutism of buttocks and thighs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3810491&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3810491</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MUSCLE, SOFT TISSUES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Muscle wasting (especially legs and arms) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806784</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/88092000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">88092000</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003202" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003202</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
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<strong> MISCELLANEOUS </strong>
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- Variable expression in females Otopalatodigital syndrome type I (OPD1, <a href="/entry/311300">311300</a>) is an allelic disorder<br /> -
Otopalatodigital syndrome type II (OPD2, <a href="/entry/304120">304120</a>) is an allelic disorder<br /> -
Melnick-Needles syndrome (MNS, <a href="/entry/309350">309350</a>) is an allelic disorder<br /> -
Periventricular heterotopia (<a href="/entry/300049">300049</a>) is an allelic disorder<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the filamin A gene (FLNA, <a href="/entry/300017#0011">300017.0011</a>)<br />
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Frontometaphyseal dysplasia
- <a href="/phenotypicSeries/PS305620">PS305620</a>
- 2 Entries
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<a href="/geneMap/6/711?start=-3&limit=10&highlight=711"> 6q15 </a>
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<a href="/entry/617137"> Frontometaphyseal dysplasia 2 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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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<a href="/entry/617137"> 617137 </a>
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<a href="/entry/602614"> MAP3K7 </a>
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<a href="/entry/602614"> 602614 </a>
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<a href="/geneMap/X/857?start=-3&limit=10&highlight=857"> Xq28 </a>
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<a href="/entry/305620"> Frontometaphyseal dysplasia 1 </a>
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<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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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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<a href="/entry/305620"> 305620 </a>
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<a href="/entry/300017"> FLNA </a>
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<a href="/entry/300017"> 300017 </a>
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<p>A number sign (#) is used with this entry because frontometaphyseal dysplasia-1 (FMD1) is caused by gain-of-function mutations in the gene encoding filamin A (FLNA; <a href="/entry/300017">300017</a>) on chromosome Xq28.</p>
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<strong>Description</strong>
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<p>Frontometaphyseal dysplasia-1 (FMD1) is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include otopalatodigital syndrome-1 (OPD1; <a href="/entry/311300">311300</a>), otopalatodigital syndrome-2 (OPD2; <a href="/entry/304120">304120</a>), and Melnick-Needles syndrome (MNS; <a href="/entry/309350">309350</a>), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD1 is characterized by a generalized skeletal dysplasia, deafness, and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by <a href="#17" class="mim-tip-reference" title="Robertson, S. P. &lt;strong&gt;Filamin A: phenotypic diversity.&lt;/strong&gt; Curr. Opin. Genet. Dev. 15: 301-307, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15917206/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15917206&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.gde.2005.04.001&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15917206">Robertson, 2005</a>). <a href="#22" class="mim-tip-reference" title="Verloes, A., Lesenfants, S., Barr, M., Grange, D. K., Journel, H., Lombet, J., Mortier, G., Roeder, E. &lt;strong&gt;Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.&lt;/strong&gt; Am. J. Med. Genet. 90: 407-422, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10706363/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10706363&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(20000228)90:5&lt;407::aid-ajmg11&gt;3.0.co;2-d&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10706363">Verloes et al. (2000)</a> suggested that these disorders constitute a single entity, which they termed 'frontootopalatodigital osteodysplasia.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10706363+15917206" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Frontometaphyseal Dysplasia</em></strong></p><p>
Frontometaphyseal dysplasia-2 (FMD2; <a href="/entry/617137">617137</a>) is caused by mutation in the MAP3K7 gene (<a href="/entry/602614">602614</a>) on chromosome 6q15.</p>
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<p><a href="#9" class="mim-tip-reference" title="Gorlin, R. J., Cohen, M. M., Jr. &lt;strong&gt;Frontometaphyseal dysplasia: a new syndrome.&lt;/strong&gt; Am. J. Dis. Child. 118: 487-494, 1969.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5807657/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5807657&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archpedi.1969.02100040489014&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5807657">Gorlin and Cohen (1969)</a> described a male patient with extraordinarily marked frontal hyperostosis giving great prominence to the supraciliary ridges, underdeveloped mandible, cryptorchidism, subluxated radial heads, and metaphyseal dysplasia resembling that in Pyle disease (metaphyseal dysplasia). This may be the disorder present in the case described by <a href="#23" class="mim-tip-reference" title="Walker, B. A. &lt;strong&gt;A craniodiaphyseal dysplasia or craniometaphyseal dysplasia?&lt;/strong&gt; Birth Defects Orig. Art. Ser. V(4): 298-300, 1969."None>Walker (1969)</a>. Striking overgrowth of bone in the superciliary region was repaired by removal of excess bone. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5807657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Holt, J. F., Thompson, G. R., Arenberg, I. K. &lt;strong&gt;Frontometaphyseal dysplasia.&lt;/strong&gt; Radiol. Clin. N. Am. 10: 225-243, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5044403/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5044403&lt;/a&gt;]" pmid="5044403">Holt et al. (1972)</a> reported 2 unrelated patients. <a href="#3" class="mim-tip-reference" title="Danks, D. M., Mayne, V., Hall, R. K., McKinnon, M. C. &lt;strong&gt;Frontometaphyseal dysplasia: a progressive disease of bone and connective tissue.&lt;/strong&gt; Am. J. Dis. Child. 123: 254-258, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5026209/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5026209&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archpedi.1972.02110090124022&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5026209">Danks et al. (1972)</a> studied an isolated case in which progressive contracture of the fingers and lysis and fusion of carpal bones were features. The patient had progressive osteosclerosis also. Fibroblasts showed metachromasia. All 3 patients were males. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5044403+5026209" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Weiss, L., Reynolds, W. A., Szymanowski, R. T. &lt;strong&gt;Frontometaphyseal dysplasia: evidence for dominant inheritance.&lt;/strong&gt; Am. J. Dis. Child. 130: 259-264, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1258835/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1258835&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archpedi.1976.02120040037007&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1258835">Weiss et al. (1976)</a> observed the disorder in a black male whose mother had the same disorder. The thumbs in the son were strikingly broad. 'Metaphyseal' is a misnomer since striking diaphyseal changes with lack of molding of the shafts of the long bones are found. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1258835" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Kassner, E. G., Haller, J. O., Reddy, V. H., Mitarotundo, A., Katz, I. &lt;strong&gt;Frontometaphyseal dysplasia: evidence for autosomal dominant inheritance.&lt;/strong&gt; Am. J. Roentgen. 127: 927-933, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/998829/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;998829&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.2214/ajr.127.6.927&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="998829">Kassner et al. (1976)</a> reported an affected 8-year-old whose mother was thought to have mild metaphyseal dysplasia and several minor skeletal abnormalities that have occurred in patients with the syndrome; they also described the disorder in maternal half brothers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=998829" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Medlar, R. C., Crawford, A. H. &lt;strong&gt;Frontometaphyseal dysplasia presenting as scoliosis.&lt;/strong&gt; J. Bone Joint Surg. Am. 60: 392-394, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/649644/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;649644&lt;/a&gt;]" pmid="649644">Medlar and Crawford (1978)</a> described an affected male who presented with scoliosis and had 2 of 3 sibs with significant scoliosis and similar facial abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=649644" 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="#21" class="mim-tip-reference" title="Ullrich, E., Witkowski, R., Kozlowski, R. &lt;strong&gt;Fronto-metaphyseal dysplasia (report of two familial cases).&lt;/strong&gt; Australas. Radiol. 23: 265-271, 1979."None>Ullrich et al. (1979)</a> reported the radiographic findings in a severely affected boy and his mildly affected mother.</p><p><a href="#1" class="mim-tip-reference" title="Abuelo, D. N., Ehrlich, O. &lt;strong&gt;Heterozygote detection in frontometaphyseal dysplasia. (Abstract)&lt;/strong&gt; Sixth International Congress of Human Genetics, Jerusalem 1981. P. 258."None>Abuelo and Ehrlich (1981)</a> described a typically affected male whose mother showed no evidence of the disorder in her facial features. However, x-rays revealed marked hyperostosis of the mandible, scoliosis, and other abnormalities.</p><p><a href="#10" class="mim-tip-reference" title="Gorlin, R. J., Winter, R. B. &lt;strong&gt;Frontometaphyseal dysplasia--evidence for X-linked inheritance.&lt;/strong&gt; Am. J. Med. Genet. 5: 81-84, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7395904/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7395904&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320050111&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7395904">Gorlin and Winter (1980)</a> pointed out that dorsiflexion of the wrists and extension of the elbows are reduced, with very limited pronation and supination. Flexion deformities of the fingers and ulnar deviation of the wrists are progressive. Missing permanent teeth and retained deciduous teeth have been noted in most patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7395904" 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="Beighton, P., Hamersma, H. &lt;strong&gt;Frontometaphyseal dysplasia: autosomal dominant or X-linked?&lt;/strong&gt; J. Med. Genet. 17: 53-56, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7189217/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7189217&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.17.1.53&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7189217">Beighton and Hamersma (1980)</a> raised the question of whether osteodysplasty of Melnick and Needles is the same as frontometaphyseal dysplasia. They suggested that the disorder in males may be labeled frontometaphyseal dysplasia and that in females called osteodysplasty. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7189217" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Fitzsimmons, J. S., Fitzsimmons, E. M., Barrow, M., Gilbert, G. B. &lt;strong&gt;Fronto-metaphyseal dysplasia: further delineation of the clinical syndrome.&lt;/strong&gt; Clin. Genet. 22: 195-205, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7151303/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7151303&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1982.tb01433.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7151303">Fitzsimmons et al. (1982)</a> reported 4 cases in 1 family: grandmother, mother, son and daughter. The male had obstructive uropathy at birth; the authors found reports of associated renal abnormalities in 3 other males. The male also had severe congenital stridor from subglottic stenosis and a tracheal web. Both children had recurrent respiratory tract infections. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7151303" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Superti-Furga, A., Gimelli, F. &lt;strong&gt;Fronto-metaphyseal dysplasia and the oto-palato-digital syndrome.&lt;/strong&gt; Dysmorph. Clin. Genet. 1: 2-5, 1987."None>Superti-Furga and Gimelli (1987)</a> reexamined the patient reported as having FMD by <a href="#3" class="mim-tip-reference" title="Danks, D. M., Mayne, V., Hall, R. K., McKinnon, M. C. &lt;strong&gt;Frontometaphyseal dysplasia: a progressive disease of bone and connective tissue.&lt;/strong&gt; Am. J. Dis. Child. 123: 254-258, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5026209/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5026209&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archpedi.1972.02110090124022&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5026209">Danks et al. (1972)</a> and concluded that the findings were consistent with the diagnosis of otopalatodigital syndrome. A review of 10 male subjects with frontometaphyseal dysplasia and 13 male subjects with the OPD syndrome from the literature revealed substantial phenotypic overlap between the 2 disorders, which share an X-linked inheritance pattern. They suggested that these may be the same disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5026209" 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>On the basis of experience with 2 newborn sons of an affected mother, <a href="#8" class="mim-tip-reference" title="Glass, R. B. J., Rosenbaum, K. N. &lt;strong&gt;Frontometaphyseal dysplasia: neonatal radiographic diagnosis.&lt;/strong&gt; Am. J. Med. Genet. 57: 1-5, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7645585/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7645585&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320570102&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7645585">Glass and Rosenbaum (1995)</a> commented on the difficulties in diagnosing FMD in the neonatal period. In both boys, bone density was generally increased, but most markedly so in the skull base. The coronal skull sutures were partially fused. The metaphyses of all the long bones were flared. As in the mother, the ribs were unusually shaped and there was an anterior bony spur from the mandible. Both boys died neonatally of severe congenital heart disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7645585" 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="#6" class="mim-tip-reference" title="Franceschini, P., Guala, A., Licata, D., Franceschini, D., Signorile, F., Di Cara, G. &lt;strong&gt;Esophageal atresia with distal tracheoesophageal fistula in a patient with fronto-metaphyseal dysplasia.&lt;/strong&gt; Am. J. Med. Genet. 73: 10-14, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9375915/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9375915&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19971128)73:1&lt;10::aid-ajmg3&gt;3.0.co;2-t&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9375915">Franceschini et al. (1997)</a> described a male infant in whom frontometaphyseal dysplasia was complicated by esophageal atresia with distal tracheoesophageal fistula. In a review of the literature they noted that malformation of the bronchial tree, respiratory distress and wheezing, narrowing of the subglottic area, and subglottic stenosis with anterior web had been reported in individual cases previously. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9375915" 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="#14" class="mim-tip-reference" title="Morava, E., Illes, T., Weisenbach, J., Karteszi, J., Kosztolanyi, G. &lt;strong&gt;Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families.&lt;/strong&gt; Am. J. Med. Genet. 116A: 272-277, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12503106/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12503106&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.10831&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12503106">Morava et al. (2003)</a> described 2 families in which both males and females showed the facial and skeletal characteristics of FMD in association with severe progressive scoliosis. Some also had hearing loss and urogenital anomalies, leading <a href="#14" class="mim-tip-reference" title="Morava, E., Illes, T., Weisenbach, J., Karteszi, J., Kosztolanyi, G. &lt;strong&gt;Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families.&lt;/strong&gt; Am. J. Med. Genet. 116A: 272-277, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12503106/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12503106&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.10831&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12503106">Morava et al. (2003)</a> to suggest that these were examples of frontootopalatodigital osteodysplasia as described by <a href="#22" class="mim-tip-reference" title="Verloes, A., Lesenfants, S., Barr, M., Grange, D. K., Journel, H., Lombet, J., Mortier, G., Roeder, E. &lt;strong&gt;Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.&lt;/strong&gt; Am. J. Med. Genet. 90: 407-422, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10706363/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10706363&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(20000228)90:5&lt;407::aid-ajmg11&gt;3.0.co;2-d&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10706363">Verloes et al. (2000)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12503106+10706363" 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="Dissanayake, R., Senanayake, M. P., Fernando, J., Robertson, S. P., Dissanayake, V. H. W., Sirisena, N. D. &lt;strong&gt;Frontometaphyseal dysplasia 1 in a patient from Sri Lanka.&lt;/strong&gt; Am. J. Med. Genet. 185A: 1317-1320, 2021.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/33372358/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;33372358&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.62058&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="33372358">Dissanayake et al. (2021)</a> reported an 11-year-old boy with the cardinal manifestations of FMD1 to include prominent supraorbital ridges, hypertelorism, and micrognathia. He also had pectus carinatum, kyphoscoliosis, bilateral contractures of the proximal interphalangeal joints of the fifth fingers, and long second and third toes bilaterally. A skeletal survey showed a narrow skull anteroposteriorly with superoinferior elongation. His skull and facial bones were thickened and sclerosed. Radiographs of the femurs showed Erlenmeyer flask deformities. No extraskeletal manifestations were seen: ultrasound scans of the abdomen and kidney, ureter, and bladder were normal, as well as echocardiogram, hearing assessment, and visual acuity on ophthalmologic exam. His carrier mother had prominent supraorbital ridges but was otherwise unaffected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33372358" 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="#10" class="mim-tip-reference" title="Gorlin, R. J., Winter, R. B. &lt;strong&gt;Frontometaphyseal dysplasia--evidence for X-linked inheritance.&lt;/strong&gt; Am. J. Med. Genet. 5: 81-84, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7395904/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7395904&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320050111&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7395904">Gorlin and Winter (1980)</a> marshalled evidence for X-linked inheritance with severe manifestations in males and variable manifestations in females. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7395904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<p><a href="#16" class="mim-tip-reference" title="Robertson, S. P., Twigg, S. R. F., Sutherland-Smith, A. J., Biancalana, V., Gorlin, R. J., Horn, D., Kenwrick, S. J., Kim, C. A., Morava, E., Newbury-Ecob, R., Orstavik, K. H., Quarrell, O. W. J., Schwartz, C. E., Shears, D. J., Suri, M., Kendrick-Jones, J., OPD-spectrum Disorders Clinical Collaborative Group, Wilkie, A. O. M. &lt;strong&gt;Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.&lt;/strong&gt; Nature Genet. 33: 487-491, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12612583/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12612583&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1119&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12612583">Robertson et al. (2003)</a> demonstrated gain-of-function mutations in the filamin A gene in patients with frontometaphyseal dysplasia; see, e.g., <a href="/entry/300017#0011">300017.0011</a> (D1159A) and <a href="/entry/300017#0015">300017.0015</a> (S1186L). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12612583" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Giuliano, F., Paquis-Flucklinger, V., Collignon, P., Philip, N., Bardot, J. &lt;strong&gt;A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 132A: 222, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15523633/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15523633&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30396&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15523633">Giuliano et al. (2005)</a> identified the S1186L mutation in the FLNA gene in affected members of a 3-generation family with FMD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15523633" 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="#15" class="mim-tip-reference" title="Robertson, S. P., Jenkins, Z. A., Morgan, T., Ades, L., Aftimos, S., Boute, O., Fiskerstrand, T., Garcia-Minaur, S., Grix, A., Green, A., Der Kaloustian, V., Lewkonia, R., and 16 others. &lt;strong&gt;Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.&lt;/strong&gt; Am. J. Med. Genet. 140A: 1726-1736, 2006. Note: Erratum: Am. J. Med. Genet. 140A: 2840 only, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16835913/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16835913&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31322&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16835913">Robertson et al. (2006)</a> performed clinical and molecular analysis of 23 unrelated probands with FMD. No mutation in the FLNA gene was identified in 10 of the 23 patients (43%), suggesting genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16835913" 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 boy from Sri Lanka with FMD1, <a href="#4" class="mim-tip-reference" title="Dissanayake, R., Senanayake, M. P., Fernando, J., Robertson, S. P., Dissanayake, V. H. W., Sirisena, N. D. &lt;strong&gt;Frontometaphyseal dysplasia 1 in a patient from Sri Lanka.&lt;/strong&gt; Am. J. Med. Genet. 185A: 1317-1320, 2021.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/33372358/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;33372358&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.62058&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="33372358">Dissanayake et al. (2021)</a> identified a hemizygous ser1186-to-leu (S1186L) mutation (<a href="/entry/300017#0015">300017.0015</a>). His mother, who had prominent supraorbital ridges but was otherwise unaffected, was heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33372358" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
See <a href="/entry/605101#0003">605101.0003</a> for discussion of a possible association between FMD and variation in the TAB2 gene.</p>
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<a href="#Sauvegrain1975" class="mim-tip-reference" title="Sauvegrain, J., Lombard, M., Garel, L., Truscelli, D. &lt;strong&gt;Dysplasie fronto-metaphysaire.&lt;/strong&gt; Ann. Radiol. 18: 155-162, 1975.">Sauvegrain et al. (1975)</a>; <a href="#Stern1972" class="mim-tip-reference" title="Stern, S. D., Arenberg, I. K., Ongal, R. M., Sandall, G. S., Holt, J. F. &lt;strong&gt;The ocular and cosmetic problems in frontometaphyseal dysplasia.&lt;/strong&gt; J. Pediat. Ophthal. 9: 151-161, 1972.">Stern et al. (1972)</a>
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<strong>REFERENCES</strong>
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<p class="mim-text-font">
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[<a href="https://doi.org/10.1136/jmg.17.1.53" target="_blank">Full Text</a>]
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<a id="Danks1972" class="mim-anchor"></a>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5026209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5026209</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5026209" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archpedi.1972.02110090124022" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
<a id="Dissanayake2021" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dissanayake, R., Senanayake, M. P., Fernando, J., Robertson, S. P., Dissanayake, V. H. W., Sirisena, N. D.
<strong>Frontometaphyseal dysplasia 1 in a patient from Sri Lanka.</strong>
Am. J. Med. Genet. 185A: 1317-1320, 2021.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33372358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33372358</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33372358" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.62058" target="_blank">Full Text</a>]
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Fitzsimmons, J. S., Fitzsimmons, E. M., Barrow, M., Gilbert, G. B.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7151303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7151303</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7151303" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1982.tb01433.x" target="_blank">Full Text</a>]
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Franceschini, P., Guala, A., Licata, D., Franceschini, D., Signorile, F., Di Cara, G.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9375915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9375915</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9375915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1096-8628(19971128)73:1&lt;10::aid-ajmg3&gt;3.0.co;2-t" target="_blank">Full Text</a>]
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<a id="Giuliano2005" class="mim-anchor"></a>
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Giuliano, F., Paquis-Flucklinger, V., Collignon, P., Philip, N., Bardot, J.
<strong>A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation. (Letter)</strong>
Am. J. Med. Genet. 132A: 222, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15523633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15523633</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15523633" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.30396" target="_blank">Full Text</a>]
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Glass, R. B. J., Rosenbaum, K. N.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7645585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7645585</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7645585" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320570102" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5807657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5807657</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5807657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archpedi.1969.02100040489014" target="_blank">Full Text</a>]
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Gorlin, R. J., Winter, R. B.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7395904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7395904</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7395904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320050111" target="_blank">Full Text</a>]
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<a id="Holt1972" class="mim-anchor"></a>
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Holt, J. F., Thompson, G. R., Arenberg, I. K.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5044403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5044403</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5044403" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Kassner1976" class="mim-anchor"></a>
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<p class="mim-text-font">
Kassner, E. G., Haller, J. O., Reddy, V. H., Mitarotundo, A., Katz, I.
<strong>Frontometaphyseal dysplasia: evidence for autosomal dominant inheritance.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/998829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">998829</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=998829" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.2214/ajr.127.6.927" target="_blank">Full Text</a>]
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<strong>Frontometaphyseal dysplasia presenting as scoliosis.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/649644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">649644</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=649644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="14" class="mim-anchor"></a>
<a id="Morava2003" class="mim-anchor"></a>
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<p class="mim-text-font">
Morava, E., Illes, T., Weisenbach, J., Karteszi, J., Kosztolanyi, G.
<strong>Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12503106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12503106</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12503106" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.10831" target="_blank">Full Text</a>]
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<a id="15" class="mim-anchor"></a>
<a id="Robertson2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Robertson, S. P., Jenkins, Z. A., Morgan, T., Ades, L., Aftimos, S., Boute, O., Fiskerstrand, T., Garcia-Minaur, S., Grix, A., Green, A., Der Kaloustian, V., Lewkonia, R., and 16 others.
<strong>Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16835913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16835913</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16835913" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.31322" target="_blank">Full Text</a>]
</p>
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<a id="16" class="mim-anchor"></a>
<a id="Robertson2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Robertson, S. P., Twigg, S. R. F., Sutherland-Smith, A. J., Biancalana, V., Gorlin, R. J., Horn, D., Kenwrick, S. J., Kim, C. A., Morava, E., Newbury-Ecob, R., Orstavik, K. H., Quarrell, O. W. J., Schwartz, C. E., Shears, D. J., Suri, M., Kendrick-Jones, J., OPD-spectrum Disorders Clinical Collaborative Group, Wilkie, A. O. M.
<strong>Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.</strong>
Nature Genet. 33: 487-491, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12612583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12612583</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12612583" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng1119" target="_blank">Full Text</a>]
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<a id="17" class="mim-anchor"></a>
<a id="Robertson2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Robertson, S. P.
<strong>Filamin A: phenotypic diversity.</strong>
Curr. Opin. Genet. Dev. 15: 301-307, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15917206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15917206</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15917206" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.gde.2005.04.001" target="_blank">Full Text</a>]
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<a id="Sauvegrain1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sauvegrain, J., Lombard, M., Garel, L., Truscelli, D.
<strong>Dysplasie fronto-metaphysaire.</strong>
Ann. Radiol. 18: 155-162, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1094899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1094899</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1094899" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="19" class="mim-anchor"></a>
<a id="Stern1972" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Stern, S. D., Arenberg, I. K., Ongal, R. M., Sandall, G. S., Holt, J. F.
<strong>The ocular and cosmetic problems in frontometaphyseal dysplasia.</strong>
J. Pediat. Ophthal. 9: 151-161, 1972.
</p>
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<a id="20" class="mim-anchor"></a>
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Superti-Furga, A., Gimelli, F.
<strong>Fronto-metaphyseal dysplasia and the oto-palato-digital syndrome.</strong>
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Ullrich, E., Witkowski, R., Kozlowski, R.
<strong>Fronto-metaphyseal dysplasia (report of two familial cases).</strong>
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<a id="Verloes2000" class="mim-anchor"></a>
<div class="">
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Verloes, A., Lesenfants, S., Barr, M., Grange, D. K., Journel, H., Lombet, J., Mortier, G., Roeder, E.
<strong>Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.</strong>
Am. J. Med. Genet. 90: 407-422, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10706363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10706363</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10706363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1096-8628(20000228)90:5&lt;407::aid-ajmg11&gt;3.0.co;2-d" target="_blank">Full Text</a>]
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<a id="Walker1969" class="mim-anchor"></a>
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Walker, B. A.
<strong>A craniodiaphyseal dysplasia or craniometaphyseal dysplasia?</strong>
Birth Defects Orig. Art. Ser. V(4): 298-300, 1969.
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<a id="Weiss1976" class="mim-anchor"></a>
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Weiss, L., Reynolds, W. A., Szymanowski, R. T.
<strong>Frontometaphyseal dysplasia: evidence for dominant inheritance.</strong>
Am. J. Dis. Child. 130: 259-264, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1258835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1258835</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1258835" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archpedi.1976.02120040037007" target="_blank">Full Text</a>]
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Sonja A. Rasmussen - updated : 07/08/2022
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Marla J. F. O'Neill - updated : 09/30/2016<br>Carol A. Bocchini - updated : 7/28/2009<br>Marla J. F. O'Neill - updated : 10/9/2006<br>Marla J. F. O'Neill - updated : 3/1/2005<br>Marla J. F. O'Neill - updated : 1/28/2005<br>Victor A. McKusick - updated : 3/19/2003<br>Victor A. McKusick - updated : 2/4/2003<br>Victor A. McKusick - updated : 12/1/1997
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Creation Date:
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Victor A. McKusick : 6/4/1986
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carol : 09/05/2023
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carol : 08/31/2023<br>alopez : 08/30/2023<br>alopez : 07/08/2022<br>carol : 07/08/2022<br>carol : 09/30/2016<br>carol : 08/16/2016<br>carol : 08/15/2016<br>terry : 01/13/2011<br>carol : 7/28/2009<br>carol : 7/24/2009<br>carol : 1/5/2007<br>ckniffin : 1/2/2007<br>carol : 10/9/2006<br>wwang : 3/7/2005<br>terry : 3/1/2005<br>carol : 2/3/2005<br>terry : 1/28/2005<br>terry : 6/3/2004<br>alopez : 4/2/2003<br>alopez : 3/21/2003<br>terry : 3/19/2003<br>carol : 2/28/2003<br>tkritzer : 2/20/2003<br>terry : 2/4/2003<br>terry : 6/5/1998<br>mark : 12/8/1997<br>terry : 12/1/1997<br>mark : 6/20/1995<br>carol : 2/7/1995<br>terry : 4/21/1994<br>warfield : 4/20/1994<br>mimadm : 2/27/1994<br>carol : 11/10/1993
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<strong>#</strong> 305620
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<span class="mim-font">
FRONTOMETAPHYSEAL DYSPLASIA 1; FMD1
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<em>Alternative titles; symbols</em>
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FMD
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<strong>ORPHA:</strong> 1826; &nbsp;
<strong>DO:</strong> 0111786; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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Xq28
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Frontometaphyseal dysplasia 1
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305620
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X-linked recessive
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3
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FLNA
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300017
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because frontometaphyseal dysplasia-1 (FMD1) is caused by gain-of-function mutations in the gene encoding filamin A (FLNA; 300017) on chromosome Xq28.</p>
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<strong>Description</strong>
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<p>Frontometaphyseal dysplasia-1 (FMD1) is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include otopalatodigital syndrome-1 (OPD1; 311300), otopalatodigital syndrome-2 (OPD2; 304120), and Melnick-Needles syndrome (MNS; 309350), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD1 is characterized by a generalized skeletal dysplasia, deafness, and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by Robertson, 2005). Verloes et al. (2000) suggested that these disorders constitute a single entity, which they termed 'frontootopalatodigital osteodysplasia.' </p><p><strong><em>Genetic Heterogeneity of Frontometaphyseal Dysplasia</em></strong></p><p>
Frontometaphyseal dysplasia-2 (FMD2; 617137) is caused by mutation in the MAP3K7 gene (602614) on chromosome 6q15.</p>
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<strong>Clinical Features</strong>
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<p>Gorlin and Cohen (1969) described a male patient with extraordinarily marked frontal hyperostosis giving great prominence to the supraciliary ridges, underdeveloped mandible, cryptorchidism, subluxated radial heads, and metaphyseal dysplasia resembling that in Pyle disease (metaphyseal dysplasia). This may be the disorder present in the case described by Walker (1969). Striking overgrowth of bone in the superciliary region was repaired by removal of excess bone. </p><p>Holt et al. (1972) reported 2 unrelated patients. Danks et al. (1972) studied an isolated case in which progressive contracture of the fingers and lysis and fusion of carpal bones were features. The patient had progressive osteosclerosis also. Fibroblasts showed metachromasia. All 3 patients were males. </p><p>Weiss et al. (1976) observed the disorder in a black male whose mother had the same disorder. The thumbs in the son were strikingly broad. 'Metaphyseal' is a misnomer since striking diaphyseal changes with lack of molding of the shafts of the long bones are found. </p><p>Kassner et al. (1976) reported an affected 8-year-old whose mother was thought to have mild metaphyseal dysplasia and several minor skeletal abnormalities that have occurred in patients with the syndrome; they also described the disorder in maternal half brothers. </p><p>Medlar and Crawford (1978) described an affected male who presented with scoliosis and had 2 of 3 sibs with significant scoliosis and similar facial abnormalities. </p><p>Ullrich et al. (1979) reported the radiographic findings in a severely affected boy and his mildly affected mother.</p><p>Abuelo and Ehrlich (1981) described a typically affected male whose mother showed no evidence of the disorder in her facial features. However, x-rays revealed marked hyperostosis of the mandible, scoliosis, and other abnormalities.</p><p>Gorlin and Winter (1980) pointed out that dorsiflexion of the wrists and extension of the elbows are reduced, with very limited pronation and supination. Flexion deformities of the fingers and ulnar deviation of the wrists are progressive. Missing permanent teeth and retained deciduous teeth have been noted in most patients. </p><p>Beighton and Hamersma (1980) raised the question of whether osteodysplasty of Melnick and Needles is the same as frontometaphyseal dysplasia. They suggested that the disorder in males may be labeled frontometaphyseal dysplasia and that in females called osteodysplasty. </p><p>Fitzsimmons et al. (1982) reported 4 cases in 1 family: grandmother, mother, son and daughter. The male had obstructive uropathy at birth; the authors found reports of associated renal abnormalities in 3 other males. The male also had severe congenital stridor from subglottic stenosis and a tracheal web. Both children had recurrent respiratory tract infections. </p><p>Superti-Furga and Gimelli (1987) reexamined the patient reported as having FMD by Danks et al. (1972) and concluded that the findings were consistent with the diagnosis of otopalatodigital syndrome. A review of 10 male subjects with frontometaphyseal dysplasia and 13 male subjects with the OPD syndrome from the literature revealed substantial phenotypic overlap between the 2 disorders, which share an X-linked inheritance pattern. They suggested that these may be the same disorder. </p><p>On the basis of experience with 2 newborn sons of an affected mother, Glass and Rosenbaum (1995) commented on the difficulties in diagnosing FMD in the neonatal period. In both boys, bone density was generally increased, but most markedly so in the skull base. The coronal skull sutures were partially fused. The metaphyses of all the long bones were flared. As in the mother, the ribs were unusually shaped and there was an anterior bony spur from the mandible. Both boys died neonatally of severe congenital heart disease. </p><p>Franceschini et al. (1997) described a male infant in whom frontometaphyseal dysplasia was complicated by esophageal atresia with distal tracheoesophageal fistula. In a review of the literature they noted that malformation of the bronchial tree, respiratory distress and wheezing, narrowing of the subglottic area, and subglottic stenosis with anterior web had been reported in individual cases previously. </p><p>Morava et al. (2003) described 2 families in which both males and females showed the facial and skeletal characteristics of FMD in association with severe progressive scoliosis. Some also had hearing loss and urogenital anomalies, leading Morava et al. (2003) to suggest that these were examples of frontootopalatodigital osteodysplasia as described by Verloes et al. (2000). </p><p>Dissanayake et al. (2021) reported an 11-year-old boy with the cardinal manifestations of FMD1 to include prominent supraorbital ridges, hypertelorism, and micrognathia. He also had pectus carinatum, kyphoscoliosis, bilateral contractures of the proximal interphalangeal joints of the fifth fingers, and long second and third toes bilaterally. A skeletal survey showed a narrow skull anteroposteriorly with superoinferior elongation. His skull and facial bones were thickened and sclerosed. Radiographs of the femurs showed Erlenmeyer flask deformities. No extraskeletal manifestations were seen: ultrasound scans of the abdomen and kidney, ureter, and bladder were normal, as well as echocardiogram, hearing assessment, and visual acuity on ophthalmologic exam. His carrier mother had prominent supraorbital ridges but was otherwise unaffected. </p>
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<strong>Inheritance</strong>
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<p>Gorlin and Winter (1980) marshalled evidence for X-linked inheritance with severe manifestations in males and variable manifestations in females. </p>
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<strong>Molecular Genetics</strong>
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<p>Robertson et al. (2003) demonstrated gain-of-function mutations in the filamin A gene in patients with frontometaphyseal dysplasia; see, e.g., 300017.0011 (D1159A) and 300017.0015 (S1186L). </p><p>Giuliano et al. (2005) identified the S1186L mutation in the FLNA gene in affected members of a 3-generation family with FMD. </p><p>Robertson et al. (2006) performed clinical and molecular analysis of 23 unrelated probands with FMD. No mutation in the FLNA gene was identified in 10 of the 23 patients (43%), suggesting genetic heterogeneity. </p><p>In a boy from Sri Lanka with FMD1, Dissanayake et al. (2021) identified a hemizygous ser1186-to-leu (S1186L) mutation (300017.0015). His mother, who had prominent supraorbital ridges but was otherwise unaffected, was heterozygous for the mutation. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
See 605101.0003 for discussion of a possible association between FMD and variation in the TAB2 gene.</p>
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<h4>
<span class="mim-font">
<strong>See Also:</strong>
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</h4>
<span class="mim-text-font">
Sauvegrain et al. (1975); Stern et al. (1972)
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
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<ol>
<li>
<p class="mim-text-font">
Abuelo, D. N., Ehrlich, O.
<strong>Heterozygote detection in frontometaphyseal dysplasia. (Abstract)</strong>
Sixth International Congress of Human Genetics, Jerusalem 1981. P. 258.
</p>
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<li>
<p class="mim-text-font">
Beighton, P., Hamersma, H.
<strong>Frontometaphyseal dysplasia: autosomal dominant or X-linked?</strong>
J. Med. Genet. 17: 53-56, 1980.
[PubMed: 7189217]
[Full Text: https://doi.org/10.1136/jmg.17.1.53]
</p>
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<li>
<p class="mim-text-font">
Danks, D. M., Mayne, V., Hall, R. K., McKinnon, M. C.
<strong>Frontometaphyseal dysplasia: a progressive disease of bone and connective tissue.</strong>
Am. J. Dis. Child. 123: 254-258, 1972.
[PubMed: 5026209]
[Full Text: https://doi.org/10.1001/archpedi.1972.02110090124022]
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<p class="mim-text-font">
Dissanayake, R., Senanayake, M. P., Fernando, J., Robertson, S. P., Dissanayake, V. H. W., Sirisena, N. D.
<strong>Frontometaphyseal dysplasia 1 in a patient from Sri Lanka.</strong>
Am. J. Med. Genet. 185A: 1317-1320, 2021.
[PubMed: 33372358]
[Full Text: https://doi.org/10.1002/ajmg.a.62058]
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<p class="mim-text-font">
Fitzsimmons, J. S., Fitzsimmons, E. M., Barrow, M., Gilbert, G. B.
<strong>Fronto-metaphyseal dysplasia: further delineation of the clinical syndrome.</strong>
Clin. Genet. 22: 195-205, 1982.
[PubMed: 7151303]
[Full Text: https://doi.org/10.1111/j.1399-0004.1982.tb01433.x]
</p>
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<li>
<p class="mim-text-font">
Franceschini, P., Guala, A., Licata, D., Franceschini, D., Signorile, F., Di Cara, G.
<strong>Esophageal atresia with distal tracheoesophageal fistula in a patient with fronto-metaphyseal dysplasia.</strong>
Am. J. Med. Genet. 73: 10-14, 1997.
[PubMed: 9375915]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19971128)73:1&lt;10::aid-ajmg3&gt;3.0.co;2-t]
</p>
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<li>
<p class="mim-text-font">
Giuliano, F., Paquis-Flucklinger, V., Collignon, P., Philip, N., Bardot, J.
<strong>A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation. (Letter)</strong>
Am. J. Med. Genet. 132A: 222, 2005.
[PubMed: 15523633]
[Full Text: https://doi.org/10.1002/ajmg.a.30396]
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<li>
<p class="mim-text-font">
Glass, R. B. J., Rosenbaum, K. N.
<strong>Frontometaphyseal dysplasia: neonatal radiographic diagnosis.</strong>
Am. J. Med. Genet. 57: 1-5, 1995.
[PubMed: 7645585]
[Full Text: https://doi.org/10.1002/ajmg.1320570102]
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<li>
<p class="mim-text-font">
Gorlin, R. J., Cohen, M. M., Jr.
<strong>Frontometaphyseal dysplasia: a new syndrome.</strong>
Am. J. Dis. Child. 118: 487-494, 1969.
[PubMed: 5807657]
[Full Text: https://doi.org/10.1001/archpedi.1969.02100040489014]
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<p class="mim-text-font">
Gorlin, R. J., Winter, R. B.
<strong>Frontometaphyseal dysplasia--evidence for X-linked inheritance.</strong>
Am. J. Med. Genet. 5: 81-84, 1980.
[PubMed: 7395904]
[Full Text: https://doi.org/10.1002/ajmg.1320050111]
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<li>
<p class="mim-text-font">
Holt, J. F., Thompson, G. R., Arenberg, I. K.
<strong>Frontometaphyseal dysplasia.</strong>
Radiol. Clin. N. Am. 10: 225-243, 1972.
[PubMed: 5044403]
</p>
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<li>
<p class="mim-text-font">
Kassner, E. G., Haller, J. O., Reddy, V. H., Mitarotundo, A., Katz, I.
<strong>Frontometaphyseal dysplasia: evidence for autosomal dominant inheritance.</strong>
Am. J. Roentgen. 127: 927-933, 1976.
[PubMed: 998829]
[Full Text: https://doi.org/10.2214/ajr.127.6.927]
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<p class="mim-text-font">
Medlar, R. C., Crawford, A. H.
<strong>Frontometaphyseal dysplasia presenting as scoliosis.</strong>
J. Bone Joint Surg. Am. 60: 392-394, 1978.
[PubMed: 649644]
</p>
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<li>
<p class="mim-text-font">
Morava, E., Illes, T., Weisenbach, J., Karteszi, J., Kosztolanyi, G.
<strong>Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families.</strong>
Am. J. Med. Genet. 116A: 272-277, 2003.
[PubMed: 12503106]
[Full Text: https://doi.org/10.1002/ajmg.a.10831]
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<li>
<p class="mim-text-font">
Robertson, S. P., Jenkins, Z. A., Morgan, T., Ades, L., Aftimos, S., Boute, O., Fiskerstrand, T., Garcia-Minaur, S., Grix, A., Green, A., Der Kaloustian, V., Lewkonia, R., and 16 others.
<strong>Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.</strong>
Am. J. Med. Genet. 140A: 1726-1736, 2006. Note: Erratum: Am. J. Med. Genet. 140A: 2840 only, 2006.
[PubMed: 16835913]
[Full Text: https://doi.org/10.1002/ajmg.a.31322]
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<li>
<p class="mim-text-font">
Robertson, S. P., Twigg, S. R. F., Sutherland-Smith, A. J., Biancalana, V., Gorlin, R. J., Horn, D., Kenwrick, S. J., Kim, C. A., Morava, E., Newbury-Ecob, R., Orstavik, K. H., Quarrell, O. W. J., Schwartz, C. E., Shears, D. J., Suri, M., Kendrick-Jones, J., OPD-spectrum Disorders Clinical Collaborative Group, Wilkie, A. O. M.
<strong>Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.</strong>
Nature Genet. 33: 487-491, 2003.
[PubMed: 12612583]
[Full Text: https://doi.org/10.1038/ng1119]
</p>
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<li>
<p class="mim-text-font">
Robertson, S. P.
<strong>Filamin A: phenotypic diversity.</strong>
Curr. Opin. Genet. Dev. 15: 301-307, 2005.
[PubMed: 15917206]
[Full Text: https://doi.org/10.1016/j.gde.2005.04.001]
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<li>
<p class="mim-text-font">
Sauvegrain, J., Lombard, M., Garel, L., Truscelli, D.
<strong>Dysplasie fronto-metaphysaire.</strong>
Ann. Radiol. 18: 155-162, 1975.
[PubMed: 1094899]
</p>
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<li>
<p class="mim-text-font">
Stern, S. D., Arenberg, I. K., Ongal, R. M., Sandall, G. S., Holt, J. F.
<strong>The ocular and cosmetic problems in frontometaphyseal dysplasia.</strong>
J. Pediat. Ophthal. 9: 151-161, 1972.
</p>
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<li>
<p class="mim-text-font">
Superti-Furga, A., Gimelli, F.
<strong>Fronto-metaphyseal dysplasia and the oto-palato-digital syndrome.</strong>
Dysmorph. Clin. Genet. 1: 2-5, 1987.
</p>
</li>
<li>
<p class="mim-text-font">
Ullrich, E., Witkowski, R., Kozlowski, R.
<strong>Fronto-metaphyseal dysplasia (report of two familial cases).</strong>
Australas. Radiol. 23: 265-271, 1979.
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</li>
<li>
<p class="mim-text-font">
Verloes, A., Lesenfants, S., Barr, M., Grange, D. K., Journel, H., Lombet, J., Mortier, G., Roeder, E.
<strong>Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.</strong>
Am. J. Med. Genet. 90: 407-422, 2000.
[PubMed: 10706363]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(20000228)90:5&lt;407::aid-ajmg11&gt;3.0.co;2-d]
</p>
</li>
<li>
<p class="mim-text-font">
Walker, B. A.
<strong>A craniodiaphyseal dysplasia or craniometaphyseal dysplasia?</strong>
Birth Defects Orig. Art. Ser. V(4): 298-300, 1969.
</p>
</li>
<li>
<p class="mim-text-font">
Weiss, L., Reynolds, W. A., Szymanowski, R. T.
<strong>Frontometaphyseal dysplasia: evidence for dominant inheritance.</strong>
Am. J. Dis. Child. 130: 259-264, 1976.
[PubMed: 1258835]
[Full Text: https://doi.org/10.1001/archpedi.1976.02120040037007]
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