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Entry
- #248370 - MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA
- OMIM
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<span class="h4">#248370</span>
<br />
<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/248370"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS248370"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<div><a href="https://clinicaltrials.gov/search?cond=MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY" 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>
<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>EuroGentest</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2271&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Mandibuloacral dysplasia&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11984&Typ=Pat" title="Mandibuloacral dysplasia with type A lipodystrophy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Mandibuloacral dysplasia w…&nbsp;</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Mandibuloacral dysplasia</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90153" title="Mandibuloacral dysplasia with type A lipodystrophy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Mandibuloacral dysplasia w…</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/3ef21838-3240-4d21-839b-f374300fa05a/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
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</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0081128" 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/248370" 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:0081128" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
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</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:248370" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
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</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 1003431005<br />
<strong>ORPHA:</strong> 2457, 90153<br />
<strong>DO:</strong> 0081128<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>
248370
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA
</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">
LIPODYSTROPHY, TYPE A, ASSOCIATED WITH MANDIBULOACRAL DYSPLASIA<br />
CRANIOMANDIBULAR DERMATODYSOSTOSIS
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="includedTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
Other entities represented in this entry:
</span>
</p>
</div>
<div>
<span class="h3 mim-font">
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUDED
</span>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1240?start=-3&limit=10&highlight=1240">
1q22
</a>
</span>
</td>
<td>
<span class="mim-font">
Mandibuloacral dysplasia
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/248370"> 248370 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
LMNA
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150330"> 150330 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/248370" 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/PS248370" 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')">
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&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/248370" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/248370" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Postnatal growth retardation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859778&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859778</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008897" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008897</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008897" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008897</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Mandibular hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span><br /> -
Bird-like facies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000320" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000320</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000320" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000320</a>]</span><br /> -
Normal or increased facial adipose tissue <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837777&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837777</a>]</span><br /> -
Full cheeks <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866231&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866231</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000293" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000293</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000293" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000293</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=85459d10e5df48479ec4a2ec6cfc0455" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Cheeks,Full-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=85459d10e5df48479ec4a2ec6cfc0455&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> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Prominent eyes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837760&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837760</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000520" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000520</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000520" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000520</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">
- Pinched nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837761&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837761</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000418" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000418</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000418" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000418</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7e1775e660067b5765d31150afc00030" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nasal_Ridge,Narrow-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=7e1775e660067b5765d31150afc00030&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 /> -
Pointed nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855434&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855434</a>]</span><br /> -
Beak nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000444" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000444</a>]</span><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-arched 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><br /> -
Absence of tongue papillae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855436&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855436</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Teeth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Dental overcrowding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12351004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12351004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040433&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040433</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000678</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000678</a>]</span><br /> -
Loss of teeth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37320007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37320007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25540007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25540007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42756003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42756003</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/525.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">525.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0232513&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0232513</a>, <a href="https://bioportal.bioontology.org/search?q=C0080233&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0080233</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006480" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006480</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006480" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006480</a>]</span><br /> -
Hypoplastic teeth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235357&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235357</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000691</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000685" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000685</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000685" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000685</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Neck </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Normal or increased adipose tissue around the neck <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837778&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837778</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">
- Clavicular hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/93250003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">93250003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426799&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426799</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000894" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000894</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000894" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000894</a>]</span><br /> -
Progressive acroosteolysis of the clavicle <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837757&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837757</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000905" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000905</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000905" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000905</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Joint contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7890003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7890003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/718.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.4</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/718.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009918&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009918</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034392" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034392</a>]</span><br /> -
Joint stiffness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84445001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84445001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162298&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162298</a>, <a href="https://bioportal.bioontology.org/search?q=C4085642&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4085642</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001387" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001387</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001387" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001387</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Skull </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Delayed closure of cranial sutures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/82779003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">82779003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0277828&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0277828</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000270</a>]</span><br /> -
Wormian bones <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/113194005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">113194005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3553900&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3553900</a>, <a href="https://bioportal.bioontology.org/search?q=C0222716&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0222716</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002645" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002645</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002645" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002645</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Acroosteolysis of distal phalanges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849547&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849547</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009839" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009839</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009839" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009839</a>]</span><br /> -
Fingertip rounding <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855440</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">
- Acroosteolysis of distal phalanges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849547&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849547</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009839" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009839</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009839" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009839</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> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Mottled pigmentation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0860439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0860439</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001070" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001070</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001070" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001070</a>]</span><br /> -
Skin atrophy (especially over hands and feet) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855441&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855441</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400190005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400190005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L90.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L90.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004334" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004334</a>]</span><br /> -
Soft tissue calcinosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855442&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855442</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Alopecia, partial <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855443&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855443</a>]</span><br /> -
Sparse, lusterless scalp hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855444&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855444</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">
- Partial lipodystrophy (abnormal distribution of adipose tissue) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855438&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855438</a>]</span><br /> -
Loss of subcutaneous adipose tissue from extremities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837764&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837764</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003635</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003635</a>]</span><br /> -
Normal or increased truncal adipose tissue <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855439</a>]</span><br /> -
Normal or increased adipose tissue around the neck <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837778&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837778</a>]</span><br /> -
Normal or increased facial adipose tissue <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837777&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837777</a>]</span><br /> -
Soft tissue or tendinous calcinosis (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5542315&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5542315</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ENDOCRINE FEATURES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Insulin-resistant diabetes mellitus <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0854110&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0854110</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000831" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000831</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000831" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000831</a>]</span><br /> -
Impaired glucose tolerance <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267426009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267426009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9414007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9414007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R73.03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R73.03</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151671&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151671</a>, <a href="https://bioportal.bioontology.org/search?q=C0271650&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271650</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040270</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001952</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040270</a>]</span><br />
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<strong> LABORATORY ABNORMALITIES </strong>
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- Hyperglycemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/444780001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">444780001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237598005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237598005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80394007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80394007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R73.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R73.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2919432&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2919432</a>, <a href="https://bioportal.bioontology.org/search?q=C0020456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020456</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003074" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003074</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003074" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003074</a>]</span><br /> -
Hyperlipidemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55822004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55822004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166816003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166816003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3744001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3744001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E78.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E78.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0428465&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0428465</a>, <a href="https://bioportal.bioontology.org/search?q=C0020476&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020476</a>, <a href="https://bioportal.bioontology.org/search?q=C0020473&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020473</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010980" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010980</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0003077" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003077</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003077" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003077</a>]</span><br /> -
Hyperinsulinemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/131103005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">131103005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/83469008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">83469008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E16.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0852795&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0852795</a>, <a href="https://bioportal.bioontology.org/search?q=C0020459&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020459</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000842" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000842</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000842" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000842</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Onset in childhood<br /> -
Genetic heterogeneity (see MADB, <a href="/entry/608612">608612</a>) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><br /> -
Allelic disorder to Dunnigan-type familial partial lipodystrophy (<a href="/entry/151660">151660</a>)<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the lamin A/C gene (LMNA, <a href="/entry/150330#0021">150330.0021</a>)<br />
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<h5>
Mandibuloacral dysplasia with lipodystrophy
- <a href="/phenotypicSeries/PS248370">PS248370</a>
- 2 Entries
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<strong>Phenotype</strong>
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<strong>Inheritance</strong>
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<strong>Phenotype<br />mapping key</strong>
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<strong>Phenotype<br />MIM number</strong>
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<strong>Gene/Locus</strong>
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<strong>Gene/Locus<br />MIM number</strong>
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<a href="/geneMap/1/486?start=-3&limit=10&highlight=486"> 1p34.2 </a>
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<a href="/entry/608612"> Mandibuloacral dysplasia with type B lipodystrophy </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/608612"> 608612 </a>
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<a href="/entry/606480"> ZMPSTE24 </a>
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<a href="/entry/606480"> 606480 </a>
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<a href="/geneMap/1/1240?start=-3&limit=10&highlight=1240"> 1q22 </a>
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<a href="/entry/248370"> Mandibuloacral dysplasia </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/248370"> 248370 </a>
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<a href="/entry/150330"> LMNA </a>
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<a href="/entry/150330"> 150330 </a>
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<p>A number sign (#) is used with this entry because of evidence that mandibuloacral dysplasia type A (MADA) with partial lipodystrophy is caused by homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA; <a href="/entry/150330">150330</a>) on chromosome 1q22.</p><p>Atypical forms of MADA are also caused by mutation in the LMNA gene.</p>
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<strong>Description</strong>
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<p>Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (<a href="#37" class="mim-tip-reference" title="Young, L. W., Radebaugh, J. F., Rubin, P., Sensenbrenner, J. A., Fiorelli, G. &lt;strong&gt;New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys.&lt;/strong&gt; Birth Defects Orig. Art. Ser. VII(7): 291-297, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5173234/&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;5173234&lt;/a&gt;]" pmid="5173234">Young et al., 1971</a>; <a href="#30" class="mim-tip-reference" title="Simha, V., Garg, A. &lt;strong&gt;Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia.&lt;/strong&gt; J. Clin. Endocr. Metab. 87: 776-785, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11836320/&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;11836320&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jcem.87.2.8258&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="11836320">Simha and Garg, 2002</a>; summary by <a href="#11" class="mim-tip-reference" title="Garavelli, L., D&#x27;Apice, M. R., Rivieri, F., Bertoli, M., Wischmeijer, A., Gelmini, C., De Nigris, V., Albertini, E., Rosato, S., Virdis, R., Bacchini, E., Dal Zotto, R., Banchini, G., Iughetti, L., Bernasconi, S., Superti-Furga, A., Novelli, G. &lt;strong&gt;Mandibuloacral dysplasia type A in childhood.&lt;/strong&gt; Am. J. Med. Genet. 149A: 2258-2264, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19764019/&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;19764019&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33005&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="19764019">Garavelli et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11836320+19764019+5173234" 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>See also MAD type B (MADB; <a href="/entry/608612">608612</a>), which is caused by mutation in the ZMPSTE24 gene (<a href="/entry/606480">606480</a>).</p>
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<strong>Clinical Features</strong>
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<p><a href="#37" class="mim-tip-reference" title="Young, L. W., Radebaugh, J. F., Rubin, P., Sensenbrenner, J. A., Fiorelli, G. &lt;strong&gt;New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys.&lt;/strong&gt; Birth Defects Orig. Art. Ser. VII(7): 291-297, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5173234/&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;5173234&lt;/a&gt;]" pmid="5173234">Young et al. (1971)</a> described 2 teenaged males with a hypoplastic mandible producing severe dental crowding, acroosteolysis, stiff joints, atrophy of the skin over hands and feet, and hypoplastic clavicles. The boys had an 'Andy Gump' appearance. Persistently wide cranial sutures and multiple wormian bones were noted. Alopecia and short stature were other features of this progeria-like syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5173234" 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="#9" class="mim-tip-reference" title="Danks, D. M., Mayne, V., Norman, H., Wettenhall, B., Hall, R. K. &lt;strong&gt;Craniomandibular dermatodysostosis.&lt;/strong&gt; Birth Defects Orig. Art. Ser. X(12): 99-105, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4461096/&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;4461096&lt;/a&gt;]" pmid="4461096">Danks et al. (1974)</a> suggested that the patient reported by <a href="#4" class="mim-tip-reference" title="Cavallazzi, C., Cremoncini, R., Quadri, A. &lt;strong&gt;Su di un caso di disostosi cleido-cranica. [A case of cleidocranial dysostosis].&lt;/strong&gt; Riv. Clin. Pediat. 65: 312-326, 1960.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13808551/&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;13808551&lt;/a&gt;]" pmid="13808551">Cavallazzi et al. (1960)</a> may have had this disorder. The authors also suggested that the same disorder was present in the patient reported by <a href="#17" class="mim-tip-reference" title="McKusick, V. A. &lt;strong&gt;Medical genetics 1962.&lt;/strong&gt; J. Chronic Dis. 16: 457-634, 1963.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14042963/&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;14042963&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0021-9681(63)90148-6&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="14042963">McKusick (1963)</a> as cleidocranial dysostosis with acroosteolysis and <a href="#18" class="mim-tip-reference" title="McKusick, V. A. &lt;strong&gt;Medical genetics 1963.&lt;/strong&gt; J. Chronic Dis. 17: 1077-1215, 1964.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14255733/&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;14255733&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0021-9681(64)90158-4&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="14255733">McKusick (1964)</a> as pycnodysostosis. That patient died young. The differential diagnosis also includes Hajdu-Cheney syndrome (<a href="/entry/102500">102500</a>) and acrogeria (<a href="/entry/201200">201200</a>). <a href="#36" class="mim-tip-reference" title="Welsh, O. &lt;strong&gt;Study of a family with a new progeroid syndrome.&lt;/strong&gt; Birth Defects Orig. Art. Ser. XI(5): 25-38, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1240776/&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;1240776&lt;/a&gt;]" pmid="1240776">Welsh (1975)</a> reported a 'new progeroid syndrome' in 2 males and 2 females from a sibship of 14, suggesting autosomal recessive inheritance; this disorder may have been mandibuloacral dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4461096+14255733+14042963+1240776+13808551" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Pallotta, R., Morgese, G. &lt;strong&gt;Mandibuloacral dysplasia: a rare progeroid syndrome: two brothers confirm autosomal recessive inheritance.&lt;/strong&gt; Clin. Genet. 26: 133-138, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6467666/&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;6467666&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1984.tb00803.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="6467666">Pallotta and Morgese (1984)</a> reported 2 Italian brothers with mandibuloacral dysplasia. <a href="#13" class="mim-tip-reference" title="Hall, B. D., Mier, R. J. &lt;strong&gt;Mandibuloacral dysplasia: a rare progressive disorder with postnatal onset. (Abstract)&lt;/strong&gt; Proc. Greenwood Genet. Center 4: 125-126, 1985."None>Hall and Mier (1985)</a> described a 13-year-old male with this disorder, and referred to 3 unpublished cases that included a 37-year-old male and a brother and sister. <a href="#31" class="mim-tip-reference" title="Tenconi, R., Miotti, F., Miotti, A., Audino, G., Ferro, R., Clementi, M. &lt;strong&gt;Another Italian family with mandibuloacral dysplasia: why does it seem more frequent in Italy?&lt;/strong&gt; Am. J. Med. Genet. 24: 357-364, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3717214/&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;3717214&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320240215&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="3717214">Tenconi et al. (1986)</a> described an Italian family with 1 female and 2 males affected in a sibship of 11. They noted that of 9 reported affected families, 5 were Italian. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6467666+3717214" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The 2 brothers reported by <a href="#23" class="mim-tip-reference" title="Parkash, H., Sidhu, S. S., Raghavan, R., Deshmukh, R. N. &lt;strong&gt;Hutchinson-Gilford progeria: familial occurrence.&lt;/strong&gt; Am. J. Med. Genet. 36: 431-433, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2389799/&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;2389799&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320360411&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="2389799">Parkash et al. (1990)</a> as examples of Hutchinson-Gilford progeria syndrome (HGPS; <a href="/entry/176670">176670</a>) probably had MAD (<a href="#19" class="mim-tip-reference" title="McKusick, V. A. &lt;strong&gt;Review of Dr. Parkash&#x27;s report. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 41: 137 only, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1951455/&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;1951455&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320410133&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="1951455">McKusick, 1991</a>; <a href="#32" class="mim-tip-reference" title="Toriello, H. V. &lt;strong&gt;Mandibuloacral &#x27;dysplasia&#x27;. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 41: 138 only, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1951456/&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;1951456&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320410134&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="1951456">Toriello, 1991</a>; <a href="#7" class="mim-tip-reference" title="Cusano, F., Scarano, G. &lt;strong&gt;Familial progeria or mandibulo-acral dysplasia? (Letter)&lt;/strong&gt; Am. J. Med. Genet. 41: 139 only, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1951457/&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;1951457&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320410135&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="1951457">Cusano and Scarano, 1991</a>). <a href="#23" class="mim-tip-reference" title="Parkash, H., Sidhu, S. S., Raghavan, R., Deshmukh, R. N. &lt;strong&gt;Hutchinson-Gilford progeria: familial occurrence.&lt;/strong&gt; Am. J. Med. Genet. 36: 431-433, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2389799/&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;2389799&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320360411&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="2389799">Parkash et al. (1990)</a> commented that the patients had 2 unusual findings, namely, marked resorption of the mandible with loss of teeth in the elder sib and prolonged survival. At the time of report, both sibs were alive and active at ages 32 and 24 years. Both had hypoplastic clavicles with ease of apposition of the shoulders. Acroosteolysis with progressive loss of bone from the distal phalanges of the fingers and toes was found bilaterally. The cranial bones were thin and the anterior fontanels and sutures were still open. In the case of the youngest sib, wormian bones were also present. <a href="#24" class="mim-tip-reference" title="Parkash, H. &lt;strong&gt;Reply to Dr. Toriello. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 41: 140 only, 1991."None>Parkash (1991)</a> defended the diagnosis of progeria. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1951455+2389799+1951457+1951456" 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="#8" class="mim-tip-reference" title="Cutler, D. L., Kaufmann, S., Freidenberg, G. R. &lt;strong&gt;Insulin-resistant diabetes mellitus and hypermetabolism in mandibuloacral dysplasia: a newly recognized form of partial lipodystrophy.&lt;/strong&gt; J. Clin. Endocr. Metab. 73: 1056-1061, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1939519/&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;1939519&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jcem-73-5-1056&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="1939519">Cutler et al. (1991)</a> and <a href="#10" class="mim-tip-reference" title="Freidenberg, G. R., Cutler, D. L., Jones, M. C., Hall, B., Mier, R. J., Culler, F., Jones, K. L., Lozzio, C., Kaufmann, S. &lt;strong&gt;Severe insulin resistance and diabetes mellitus in mandibuloacral dysplasia.&lt;/strong&gt; Am. J. Dis. Child. 146: 93-99, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1736653/&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;1736653&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archpedi.1992.02160130095028&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="1736653">Freidenberg et al. (1992)</a> emphasized the partial lipodystrophy present in the patients they observed. <a href="#8" class="mim-tip-reference" title="Cutler, D. L., Kaufmann, S., Freidenberg, G. R. &lt;strong&gt;Insulin-resistant diabetes mellitus and hypermetabolism in mandibuloacral dysplasia: a newly recognized form of partial lipodystrophy.&lt;/strong&gt; J. Clin. Endocr. Metab. 73: 1056-1061, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1939519/&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;1939519&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jcem-73-5-1056&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="1939519">Cutler et al. (1991)</a> described 2 patients with extreme insulin resistance and marked hypermetabolism. <a href="#10" class="mim-tip-reference" title="Freidenberg, G. R., Cutler, D. L., Jones, M. C., Hall, B., Mier, R. J., Culler, F., Jones, K. L., Lozzio, C., Kaufmann, S. &lt;strong&gt;Severe insulin resistance and diabetes mellitus in mandibuloacral dysplasia.&lt;/strong&gt; Am. J. Dis. Child. 146: 93-99, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1736653/&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;1736653&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archpedi.1992.02160130095028&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="1736653">Freidenberg et al. (1992)</a> studied the same 2 patients and a third patient, a 41-year-old male, who had been published as an instance of Werner syndrome (<a href="/entry/277700">277700</a>) at age 24 years (<a href="#6" class="mim-tip-reference" title="Cohen, L. K., Thurmon, T. F., Salvaggio, J. &lt;strong&gt;Werner&#x27;s syndrome.&lt;/strong&gt; Cutis 12: 76-80, 1973."None>Cohen et al., 1973</a>). Hearing loss was present in all 3 patients. In the patient with MAD syndrome who had previously been misdiagnosed as having Werner syndrome by <a href="#6" class="mim-tip-reference" title="Cohen, L. K., Thurmon, T. F., Salvaggio, J. &lt;strong&gt;Werner&#x27;s syndrome.&lt;/strong&gt; Cutis 12: 76-80, 1973."None>Cohen et al. (1973)</a>, <a href="#20" class="mim-tip-reference" title="Ng, D., Stratakis, C. A. &lt;strong&gt;Premature adrenal cortical dysfunction in mandibuloacral dysplasia: a progeroid-like syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 95: 293-295, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11102943/&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;11102943&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/1096-8628(20001127)95:3&lt;293::aid-ajmg23&gt;3.0.co;2-5&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="11102943">Ng and Stratakis (2000)</a> found premature adrenal cortical dysfunction of the zona reticularis, marked by a decrease in 17,20-lyase activity (<a href="/entry/609300">609300</a>), consistent with that seen in the elderly. They suggested that the prominence of the patient's eyes was pseudo-proptosis, secondary to lack of subcutaneous periorbital fat. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1736653+1939519+11102943" 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="#33" class="mim-tip-reference" title="Toriello, H. V. &lt;strong&gt;Mandibulo-acral dysplasia: heterogeneity versus variability.&lt;/strong&gt; Clin. Dysmorph. 4: 12-24, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7735501/&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;7735501&lt;/a&gt;]" pmid="7735501">Toriello (1995)</a> reviewed published cases and examined the possibility of heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7735501" 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="#27" class="mim-tip-reference" title="Seftel, M. D., Wright, C. A., Li Wan Po, P., de Ravel, T. J. L. &lt;strong&gt;Lethal neonatal mandibuloacral dysplasia.&lt;/strong&gt; Am. J. Med. Genet. 66: 52-54, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8957511/&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;8957511&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1096-8628(19961202)66:1&lt;52::AID-AJMG11&gt;3.0.CO;2-P&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="8957511">Seftel et al. (1996)</a> reported a male newborn from South Africa (non-Italian descent) with confluent fontanels, sparse hair and eyebrows, severe micrognathia, bulbar digits, and short clavicles. These manifestations were consistent with mandibuloacral dysplasia. He also had glanular hypospadias and died at 8 days of age. <a href="#27" class="mim-tip-reference" title="Seftel, M. D., Wright, C. A., Li Wan Po, P., de Ravel, T. J. L. &lt;strong&gt;Lethal neonatal mandibuloacral dysplasia.&lt;/strong&gt; Am. J. Med. Genet. 66: 52-54, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8957511/&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;8957511&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1096-8628(19961202)66:1&lt;52::AID-AJMG11&gt;3.0.CO;2-P&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="8957511">Seftel et al. (1996)</a> considered this case to represent a lethal neonatal form of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8957511" 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="#26" class="mim-tip-reference" title="Prasad, P. V. S., Padmavathy, L., Sethurajan, S. &lt;strong&gt;Familial mandibuloacral dysplasia--a report of four cases.&lt;/strong&gt; Int. J. Derm. 37: 614-616, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9732012/&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;9732012&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1365-4362.1998.00489.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="9732012">Prasad et al. (1998)</a> reported 2 brothers and 2 unrelated girls with typical features of MAD. Both girls presented with foot pain and had a small infantile uterus and soft tissue calcinosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9732012" 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="#34" class="mim-tip-reference" title="Tudisco, C., Canepa, G., Novelli, G., Dallapiccola, B. &lt;strong&gt;Familial mandibuloacral dysplasia: report of an additional Italian patient.&lt;/strong&gt; Am. J. Med. Genet. 94: 237-241, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10995511/&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;10995511&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/1096-8628(20000918)94:3&lt;237::aid-ajmg10&gt;3.0.co;2-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10995511">Tudisco et al. (2000)</a> stated that only 11 families of mandibuloacral dysplasia had been reported and that 5 of these were Italian. They described an additional Italian patient born of consanguineous parents. Consanguinity had previously been proved only in the family reported by <a href="#38" class="mim-tip-reference" title="Zina, A. M., Cravario, A., Bundino, S. &lt;strong&gt;Familial mandibuloacral dysplasia.&lt;/strong&gt; Brit. J. Derm. 105: 719-723, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7317281/&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;7317281&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1365-2133.1981.tb00984.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="7317281">Zina et al. (1981)</a>. In the 33-year-old patient of <a href="#34" class="mim-tip-reference" title="Tudisco, C., Canepa, G., Novelli, G., Dallapiccola, B. &lt;strong&gt;Familial mandibuloacral dysplasia: report of an additional Italian patient.&lt;/strong&gt; Am. J. Med. Genet. 94: 237-241, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10995511/&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;10995511&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/1096-8628(20000918)94:3&lt;237::aid-ajmg10&gt;3.0.co;2-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10995511">Tudisco et al. (2000)</a>, growth retardation, clavicular dysplasia, and delayed cranial suture closure were first noted at the age of 5 years, when a diagnosis of cleidocranial dysostosis was suggested. After the age of 18 years, alopecia, marked micrognathia, distal phalangeal shortening, and joint stiffness became apparent. His height was 161 cm, and he showed premature loss of the lower teeth. X-rays showed marked osteolysis of the distal finger phalanges, as well as delayed closure of cranial sutures, and mandibular and clavicular hypoplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10995511+7317281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#30" class="mim-tip-reference" title="Simha, V., Garg, A. &lt;strong&gt;Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia.&lt;/strong&gt; J. Clin. Endocr. Metab. 87: 776-785, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11836320/&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;11836320&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jcem.87.2.8258&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="11836320">Simha and Garg (2002)</a> studied body fat distribution in 2 male and 2 female patients with MAD by anthropometry, dual energy x-ray absorptiometry, and magnetic resonance imaging. Blood glucose and insulin responses during an oral glucose tolerance test and fasting serum lipoproteins were determined. Three of the 4 subjects had loss of subcutaneous fat from the extremities with normal or slight excess in the neck and truncal regions (termed type A pattern). In contrast, 1 patient had generalized loss of subcutaneous fat involving the face, trunk, and extremities (type B pattern; <a href="/entry/608612">608612</a>). All of the patients had normal glucose tolerance but had fasting and postprandial hyperinsulinemia suggestive of insulin resistance. Elevated serum triglycerides with low high-density lipoprotein cholesterol levels were noted in 3 subjects. The authors concluded that MAD presents with 2 types of body fat distribution patterns, both of which are associated with insulin resistance and its metabolic complications. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11836320" 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="Cogulu, O., Gunduz, C., Darcan, S., Kadioglu, B., Ozkinay, F., Ozkinay, C., Arkun, R. &lt;strong&gt;Mandibuloacral dysplasia with absent breast development. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 119A: 391-392, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12784312/&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;12784312&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.10169&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="12784312">Cogulu et al. (2003)</a> described a 13-year-old girl with mandibuloacral dysplasia who had absent breast development, although pubic and axillary hair were normal. Menarche began at 10 years and she had regular menstrual cycles. Hormone studies revealed no abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12784312" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Afifi, H. H., El-Bassyouni, H. T. &lt;strong&gt;Mandibuloacral dysplasia: a report of two Egyptian cases.&lt;/strong&gt; Genet. Counsel. 16: 353-362, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16440877/&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;16440877&lt;/a&gt;]" pmid="16440877">Afifi and El-Bassyouni (2005)</a> reported 2 unrelated Egyptian girls with MAD, who were both born of consanguineous parents. Both patients had micrognathia, prominent eyes, pointed nose, high-arched palate, hypoplastic teeth, and sparse scalp hair. Other common features included loss of subcutaneous fat from both upper and lower limbs and hypo- and hyperpigmented spots over the trunk. Radiologic features showed delayed closure of the cranial sutures, micrognathia, and hypoplastic clavicles. The first patient also had acroosteolysis of the distal phalanges. Both patients had laboratory findings consistent with insulin resistance. <a href="#1" class="mim-tip-reference" title="Afifi, H. H., El-Bassyouni, H. T. &lt;strong&gt;Mandibuloacral dysplasia: a report of two Egyptian cases.&lt;/strong&gt; Genet. Counsel. 16: 353-362, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16440877/&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;16440877&lt;/a&gt;]" pmid="16440877">Afifi and El-Bassyouni (2005)</a> discussed the differential diagnosis of MAD and noted the phenotypic overlap with several disorders, including HGPS, Werner syndrome, Gottron type acrogeria, Hallermann-Streiff syndrome (<a href="/entry/234100">234100</a>), and Hajdu-Cheney syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16440877" 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="#16" class="mim-tip-reference" title="Lombardi, F., Gullotta, F., Columbaro, M., Filareto, A., D&#x27;Adamo, M., Vielle, A., Guglielmi, V., Nardone, A. M., Azzolini, V., Grosso, E., Lattanzi, G., D&#x27;Apice, M. R., Masala, S., Maraldi, N. M., Sbraccia, P., Novelli, G. &lt;strong&gt;Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype.&lt;/strong&gt; J. Clin. Endocr. Metab. 92: 4467-4471, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17848409/&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;17848409&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jc.2007-0116&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="17848409">Lombardi et al. (2007)</a> identified a patient with an apparent MADA phenotype without clavicular hypoplasia, metabolic imbalances, and resembling limb-girdle myopathy. Clinical features included a hypoplastic mandible, acroosteolysis, pointed nose, partial loss of subcutaneous fat, and a progeric appearance. Due to the absence of clavicular dysplasia and normal metabolic profiles, generally associated with muscle hyposthenia and generalized hypotonia, the authors considered this phenotype an atypical laminopathy. The patient's cells showed nuclear shape abnormalities, accumulation of prelamin A, and irregular lamina thickness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17848409" 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="Kosho, T., Takahashi, J., Momose, T., Nakamura, A., Sakurai, A., Wada, T., Yoshida, K., Wakui, K., Suzuki, T., Kasuga, K., Nishimura, G., Kato, H., Fukushima, Y. &lt;strong&gt;Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes.&lt;/strong&gt; Am. J. Med. Genet. 143A: 2598-2603, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17935239/&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;17935239&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31983&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="17935239">Kosho et al. (2007)</a> reported a 56-year-old Japanese woman, born of consanguineous parents, with MAD and type A lipodystrophy confirmed by genetic analysis (<a href="/entry/150330#0046">150330.0046</a>). The authors stated that she was the oldest reported patient with the disorder. In addition to the MADA phenotype, including progeroid appearance, acroosteolysis of the distal phalanges, and loss of subcutaneous fat in the limbs, she had severe progressive destructive skeletal and osteoporotic changes. Vertebral collapse led to paralysis. However, <a href="#14" class="mim-tip-reference" title="Kosho, T., Takahashi, J., Momose, T., Nakamura, A., Sakurai, A., Wada, T., Yoshida, K., Wakui, K., Suzuki, T., Kasuga, K., Nishimura, G., Kato, H., Fukushima, Y. &lt;strong&gt;Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes.&lt;/strong&gt; Am. J. Med. Genet. 143A: 2598-2603, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17935239/&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;17935239&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31983&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="17935239">Kosho et al. (2007)</a> also noted that other factors may have contributed to the severe osteoporosis observed in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17935239" 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="Garavelli, L., D&#x27;Apice, M. R., Rivieri, F., Bertoli, M., Wischmeijer, A., Gelmini, C., De Nigris, V., Albertini, E., Rosato, S., Virdis, R., Bacchini, E., Dal Zotto, R., Banchini, G., Iughetti, L., Bernasconi, S., Superti-Furga, A., Novelli, G. &lt;strong&gt;Mandibuloacral dysplasia type A in childhood.&lt;/strong&gt; Am. J. Med. Genet. 149A: 2258-2264, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19764019/&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;19764019&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33005&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="19764019">Garavelli et al. (2009)</a> reported 2 unrelated patients with early childhood onset of MADA features. The first child, a boy, presented at age 5 years, 3 months with bulbous distal phalanges of fingers. He was observed to have ocular proptosis, a thin nose, prominent cheeks, slight micrognathia, malocclusion with overlapping teeth, thin skin with prominent veins, skin spots, and lipodystrophy type A, with an acral loss of fatty tissue also evident on the shoulders. He had wormian bones, acroosteolysis, and decreased vertebral bone density. The second child was a girl, born of consanguineous parents from Pakistan. She presented at age 4 years, 2 months with a round face, chubby cheeks, thin nose, short, broad distal phalanges, and lipodystrophy type A, with subcutaneous fat more evident on the trunk than on limbs. Skeletal survey showed wormian bones, thin clavicles, and short terminal phalanges with acroosteolysis. Both patients were homozygous for the common R527H mutation in LMNA (<a href="/entry/150330#0021">150330.0021</a>). <a href="#11" class="mim-tip-reference" title="Garavelli, L., D&#x27;Apice, M. R., Rivieri, F., Bertoli, M., Wischmeijer, A., Gelmini, C., De Nigris, V., Albertini, E., Rosato, S., Virdis, R., Bacchini, E., Dal Zotto, R., Banchini, G., Iughetti, L., Bernasconi, S., Superti-Furga, A., Novelli, G. &lt;strong&gt;Mandibuloacral dysplasia type A in childhood.&lt;/strong&gt; Am. J. Med. Genet. 149A: 2258-2264, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19764019/&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;19764019&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33005&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="19764019">Garavelli et al. (2009)</a> emphasized that features of this disorder may become apparent as early as preschool age and that bulbous fingertips may be a clue to the diagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19764019" 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="Guglielmi, V., D&#x27;Adamo, M., D&#x27;Apice, M. R., Bellia, A., Lauro, D., Federici, M., Lauro, R., Novelli, G., Sbraccia, P. &lt;strong&gt;Elbow deformities in a patient with mandibuloacral dysplasia type A.&lt;/strong&gt; Am. J. Med. Genet. 152A: 2711-2713, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20949529/&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;20949529&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33700&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="20949529">Guglielmi et al. (2010)</a> provided follow-up on a 43-year-old man, whom they stated was the second oldest reported MADA patient, who had previously been studied by <a href="#21" class="mim-tip-reference" title="Novelli, G., Muchir, A., Sangiuolo, F., Helbling-Leclerc, A., D&#x27;Apice, M. R., Massart, C., Capon, F., Sbraccia, P., Federici, M., Lauro, R., Tudisco, C., Pallotta, R., Scarano, G., Dallapiccola, B., Merlini, L., Bonne, G. &lt;strong&gt;Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.&lt;/strong&gt; Am. J. Hum. Genet. 71: 426-431, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12075506/&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;12075506&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12075506[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/341908&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="12075506">Novelli et al. (2002)</a> and found to be homozygous for an R527H mutation (<a href="/entry/150330#0021">150330.0021</a>) in the LMNA gene. The patient developed, over a period of nearly 2 years, deformation and swelling of the right elbow, associated with pain and nearly total loss of joint function, with elbow stiffness in slight flexion and severely limited articular excursion in both active and passive pronation and extension. Radiography of upper and lower limbs showed osteolysis and destructive processes of the right elbow, as well as asymptomatic resorption of both femoral greater trochanters that was more pronounced on the left. In particular, the right elbow showed joint space narrowing with loss of articular cartilage, dysplasia of the humeral condyles, erosion of proximal ulna and radius bilaterally, and palmar angulation of the ulnar olecranon with marked signs of hyperostosis and loss of normal articular contacts. <a href="#12" class="mim-tip-reference" title="Guglielmi, V., D&#x27;Adamo, M., D&#x27;Apice, M. R., Bellia, A., Lauro, D., Federici, M., Lauro, R., Novelli, G., Sbraccia, P. &lt;strong&gt;Elbow deformities in a patient with mandibuloacral dysplasia type A.&lt;/strong&gt; Am. J. Med. Genet. 152A: 2711-2713, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20949529/&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;20949529&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33700&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="20949529">Guglielmi et al. (2010)</a> noted that these lesions were absent in radiographs from 7 years earlier, and only minor alterations were detectable in radiographs at onset of symptoms 3 years previously, including less extensive hyperostosis and condylar dysplasia, with preserved articular contacts and no palmar angulation of the ulna. In addition, progression of bone deformities of the hands were evident, with progressive resorption of distal and middle phalanges compared to earlier radiographs. <a href="#12" class="mim-tip-reference" title="Guglielmi, V., D&#x27;Adamo, M., D&#x27;Apice, M. R., Bellia, A., Lauro, D., Federici, M., Lauro, R., Novelli, G., Sbraccia, P. &lt;strong&gt;Elbow deformities in a patient with mandibuloacral dysplasia type A.&lt;/strong&gt; Am. J. Med. Genet. 152A: 2711-2713, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20949529/&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;20949529&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33700&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="20949529">Guglielmi et al. (2010)</a> pointed out that similar, but more extensive, skeletal changes had been described in a 56-year-old Japanese woman who was the oldest MADA patient reported at that time (<a href="#14" class="mim-tip-reference" title="Kosho, T., Takahashi, J., Momose, T., Nakamura, A., Sakurai, A., Wada, T., Yoshida, K., Wakui, K., Suzuki, T., Kasuga, K., Nishimura, G., Kato, H., Fukushima, Y. &lt;strong&gt;Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes.&lt;/strong&gt; Am. J. Med. Genet. 143A: 2598-2603, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17935239/&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;17935239&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31983&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="17935239">Kosho et al., 2007</a>), and concluded that in MAD, osteolysis is not confined to the originally described sites (hands and clavicles), but may affect other skeletal regions. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17935239+20949529+12075506" 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>Clinical Variability</em></strong></p><p>
<a href="#25" class="mim-tip-reference" title="Plasilova, M., Chattopadhyay, C., Pal, P., Schaub, N. A., Buechner, S. A., Mueller, H., Miny, P., Ghosh, A., Heinimann, K. &lt;strong&gt;Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome.&lt;/strong&gt; J. Med. Genet. 41: 609-614, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15286156/&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;15286156&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2004.019661&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="15286156">Plasilova et al. (2004)</a> reported 4 affected members of a consanguineous family from north India with a phenotype that included features of both MADA and Hutchinson-Gilford progeria syndrome (HGPS; <a href="/entry/176670">176670</a>) associated with a homozygous mutation in the LMNA gene (K542N; <a href="/entry/150330#0033">150330.0033</a>). The patients showed uniform skeletal malformations such as acroosteolysis of the digits, micrognathia, and clavicular aplasia/hypoplasia, characteristic of MADA. They also showed hallmark features of progeria. <a href="#25" class="mim-tip-reference" title="Plasilova, M., Chattopadhyay, C., Pal, P., Schaub, N. A., Buechner, S. A., Mueller, H., Miny, P., Ghosh, A., Heinimann, K. &lt;strong&gt;Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome.&lt;/strong&gt; J. Med. Genet. 41: 609-614, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15286156/&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;15286156&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2004.019661&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="15286156">Plasilova et al. (2004)</a> suggested that autosomal recessive MADA and HGPS may represent a single disorder with varying degrees of severity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15286156" 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="#16" class="mim-tip-reference" title="Lombardi, F., Gullotta, F., Columbaro, M., Filareto, A., D&#x27;Adamo, M., Vielle, A., Guglielmi, V., Nardone, A. M., Azzolini, V., Grosso, E., Lattanzi, G., D&#x27;Apice, M. R., Masala, S., Maraldi, N. M., Sbraccia, P., Novelli, G. &lt;strong&gt;Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype.&lt;/strong&gt; J. Clin. Endocr. Metab. 92: 4467-4471, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17848409/&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;17848409&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jc.2007-0116&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="17848409">Lombardi et al. (2007)</a> identified a patient with an apparent MADA phenotype without clavicular hypoplasia or metabolic imbalances, and resembling limb-girdle myopathy. Clinical features included a hypoplastic mandible, acroosteolysis, pointed nose, partial loss of subcutaneous fat, and a progeric appearance. Due to the absence of clavicular dysplasia and normal metabolic profiles, generally associated with muscle hyposthenia and generalized hypotonia, the authors considered this phenotype an atypical laminopathy. The patient's cells showed nuclear shape abnormalities, accumulation and prelamin A, and irregular lamina thickness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17848409" 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="#35" class="mim-tip-reference" title="Van Esch, H., Agarwal, A. K., Debeer, P., Fryns, J.-P., Garg, A. &lt;strong&gt;A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.&lt;/strong&gt; J. Clin. Endocr. Metab. 91: 517-521, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16278265/&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;16278265&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jc.2005-1297&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="16278265">Van Esch et al. (2006)</a> described a 44-year-old man of European descent who had a syndrome involving arthropathy, tendinous calcinosis, and progeroid features. The arthropathy affected predominantly the distal femora and proximal tibia in the knee with tendinous calcifications. Progeroid features included a small pinched nose, small lips, micrognathia with crowded teeth, cataract, and alopecia. He also had generalized lipodystrophy, and sclerodermatous skin. However, he had normal clavicles and no evidence of acroosteolysis. The authors concluded that he had a novel phenotype. He died at 44 years of age from Staphylococcus aureus sepsis resulting from infection of skin ulcers. Genetic analysis identified a homozygous mutation in the LMNA gene (S573L; <a href="/entry/150330#0041">150330.0041</a>). The patient's unaffected 15-year-old son and 70-year-old mother were both heterozygous carriers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16278265" 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="#39" class="mim-tip-reference" title="Zirn, B., Kress, W., Grimm, T., Berthold, L. D., Neubauer, B., Kuchelmeister, K., Muller, U., Hahn, A. &lt;strong&gt;Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy.&lt;/strong&gt; Am. J. Med. Genet. 146A: 1049-1054, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18348272/&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;18348272&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32259&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="18348272">Zirn et al. (2008)</a> reported a 7-year-old Turkish girl, born of consanguineous parents, who was homozygous for a mutation (R471C; <a href="/entry/150330#0026">150330.0026</a>) in the LMNA gene. She had a phenotype most consistent with an atypical form of MADA, including lipodystrophy, a progeroid appearance, and congenital muscular dystrophy with rigid spine syndrome. These latter features were reminiscent of Emery-Dreifuss muscular dystrophy (<a href="/entry/181350">181350</a>), although there was no cardiac involvement. She presented at age 10 months with proximal muscle weakness, contractures, spinal rigidity, and a dystrophic skeletal muscle biopsy. Characteristic progeroid features and features of lipodystrophy and mandibuloacral dysplasia were noted at age 3 years and became more apparent with age. <a href="#39" class="mim-tip-reference" title="Zirn, B., Kress, W., Grimm, T., Berthold, L. D., Neubauer, B., Kuchelmeister, K., Muller, U., Hahn, A. &lt;strong&gt;Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy.&lt;/strong&gt; Am. J. Med. Genet. 146A: 1049-1054, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18348272/&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;18348272&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32259&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="18348272">Zirn et al. (2008)</a> commented on the severity of the phenotype and emphasized the phenotypic variability in patients with LMNA mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18348272" 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>By analysis of 5 consanguineous Italian families with MAD, <a href="#21" class="mim-tip-reference" title="Novelli, G., Muchir, A., Sangiuolo, F., Helbling-Leclerc, A., D&#x27;Apice, M. R., Massart, C., Capon, F., Sbraccia, P., Federici, M., Lauro, R., Tudisco, C., Pallotta, R., Scarano, G., Dallapiccola, B., Merlini, L., Bonne, G. &lt;strong&gt;Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.&lt;/strong&gt; Am. J. Hum. Genet. 71: 426-431, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12075506/&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;12075506&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12075506[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/341908&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="12075506">Novelli et al. (2002)</a> demonstrated linkage of the disorder to chromosome 1q21. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12075506" 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="inheritance" class="mim-anchor"></a>
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<div class="mim-changed mim-change"><p>The transmission pattern of MADA in the families reported by <a href="#29" class="mim-tip-reference" title="Simha, V., Agarwal, A. K., Oral, E. A., Fryns, J.-P., Garg, A. &lt;strong&gt;Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy.&lt;/strong&gt; J. Clin. Endocr. Metab. 88: 2821-2824, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12788894/&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;12788894&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jc.2002-021575&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="12788894">Simha et al. (2003)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12788894" 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></div>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p>In 9 affected patients from 5 consanguineous Italian families with MAD, <a href="#21" class="mim-tip-reference" title="Novelli, G., Muchir, A., Sangiuolo, F., Helbling-Leclerc, A., D&#x27;Apice, M. R., Massart, C., Capon, F., Sbraccia, P., Federici, M., Lauro, R., Tudisco, C., Pallotta, R., Scarano, G., Dallapiccola, B., Merlini, L., Bonne, G. &lt;strong&gt;Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.&lt;/strong&gt; Am. J. Hum. Genet. 71: 426-431, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12075506/&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;12075506&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12075506[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/341908&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="12075506">Novelli et al. (2002)</a> identified a homozygous mutation in the LMNA gene (R527H; <a href="/entry/150330#0021">150330.0021</a>). The authors noted that LMNA also causes several distinct disorders, including Dunnigan type familial partial lipodystrophy (<a href="/entry/151660">151660</a>), a condition that is characterized by subcutaneous fat loss and is invariably associated with insulin resistance and diabetes. <a href="#29" class="mim-tip-reference" title="Simha, V., Agarwal, A. K., Oral, E. A., Fryns, J.-P., Garg, A. &lt;strong&gt;Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy.&lt;/strong&gt; J. Clin. Endocr. Metab. 88: 2821-2824, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12788894/&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;12788894&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jc.2002-021575&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="12788894">Simha et al. (2003)</a> noted that the patients of <a href="#21" class="mim-tip-reference" title="Novelli, G., Muchir, A., Sangiuolo, F., Helbling-Leclerc, A., D&#x27;Apice, M. R., Massart, C., Capon, F., Sbraccia, P., Federici, M., Lauro, R., Tudisco, C., Pallotta, R., Scarano, G., Dallapiccola, B., Merlini, L., Bonne, G. &lt;strong&gt;Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.&lt;/strong&gt; Am. J. Hum. Genet. 71: 426-431, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12075506/&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;12075506&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12075506[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/341908&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="12075506">Novelli et al. (2002)</a> had type A lipodystrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12788894+12075506" 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>
<div class="mim-changed mim-change"><p>In 2 pedigrees with MAD and type A lipodystrophy, <a href="#29" class="mim-tip-reference" title="Simha, V., Agarwal, A. K., Oral, E. A., Fryns, J.-P., Garg, A. &lt;strong&gt;Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy.&lt;/strong&gt; J. Clin. Endocr. Metab. 88: 2821-2824, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12788894/&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;12788894&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jc.2002-021575&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="12788894">Simha et al. (2003)</a> identified the homozygous R527H LMNA mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12788894" 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></div>
<p>In a Mexican American boy with MAD born of related parents, <a href="#28" class="mim-tip-reference" title="Shen, J. J., Brown, C. A., Lupski, J. R., Potocki, L. &lt;strong&gt;Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.&lt;/strong&gt; J. Med. Genet. 40: 854-857, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14627682/&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;14627682&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.40.11.854&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="14627682">Shen et al. (2003)</a> identified homozygosity for the R527H mutation. The authors noted that all the patients reported by <a href="#21" class="mim-tip-reference" title="Novelli, G., Muchir, A., Sangiuolo, F., Helbling-Leclerc, A., D&#x27;Apice, M. R., Massart, C., Capon, F., Sbraccia, P., Federici, M., Lauro, R., Tudisco, C., Pallotta, R., Scarano, G., Dallapiccola, B., Merlini, L., Bonne, G. &lt;strong&gt;Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.&lt;/strong&gt; Am. J. Hum. Genet. 71: 426-431, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12075506/&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;12075506&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12075506[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/341908&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="12075506">Novelli et al. (2002)</a> shared a common disease haplotype, but that the patients reported by <a href="#29" class="mim-tip-reference" title="Simha, V., Agarwal, A. K., Oral, E. A., Fryns, J.-P., Garg, A. &lt;strong&gt;Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy.&lt;/strong&gt; J. Clin. Endocr. Metab. 88: 2821-2824, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12788894/&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;12788894&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jc.2002-021575&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="12788894">Simha et al. (2003)</a> and their Mexican American patient had different haplotypes, indicating independent origins of the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12788894+12075506+14627682" 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 1 patient with an apparently typical HGPS phenotype who was 28 years old at the time that DNA was obtained, <a href="#3" class="mim-tip-reference" title="Cao, H., Hegele, R. A. &lt;strong&gt;LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).&lt;/strong&gt; J. Hum. Genet. 48: 271-274, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12768443/&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;12768443&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10038-003-0025-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12768443">Cao and Hegele (2003)</a> identified compound heterozygosity for 2 missense mutations in the LMNA gene (<a href="/entry/150330#0025">150330.0025</a> and <a href="/entry/150330#0026">150330.0026</a>); this patient was later determined (<a href="#2" class="mim-tip-reference" title="Brown, W. T. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Staten Island, N.Y. 1/12/2004."None>Brown, 2004</a>) to have mandibuloacral dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12768443" 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 patient with a MADA-like phenotype but without clavicular hypoplasia or metabolic imbalances, <a href="#16" class="mim-tip-reference" title="Lombardi, F., Gullotta, F., Columbaro, M., Filareto, A., D&#x27;Adamo, M., Vielle, A., Guglielmi, V., Nardone, A. M., Azzolini, V., Grosso, E., Lattanzi, G., D&#x27;Apice, M. R., Masala, S., Maraldi, N. M., Sbraccia, P., Novelli, G. &lt;strong&gt;Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype.&lt;/strong&gt; J. Clin. Endocr. Metab. 92: 4467-4471, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17848409/&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;17848409&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jc.2007-0116&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="17848409">Lombardi et al. (2007)</a> found compound heterozygosity for missense mutations in the LMNA gene (<a href="/entry/150330#0021">150330.0021</a>, <a href="/entry/150330#0044">150330.0044</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17848409" 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="pathogenesis" class="mim-anchor"></a>
<h4 href="#mimPathogenesisFold" id="mimPathogenesisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Pathogenesis</strong>
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<p><a href="#15" class="mim-tip-reference" title="Lombardi, F., Fasciglione, G. F., D&#x27;Apice, M. R., Vielle, A., D&#x27;Adamo, M., Sbraccia, P., Marini, S., Borgiani, P., Coletta, M., Novelli, G. &lt;strong&gt;Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome.&lt;/strong&gt; Clin. Genet. 74: 374-383, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18554282/&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;18554282&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2008.01034.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="18554282">Lombardi et al. (2008)</a> detected significantly higher levels (approximately 4.7-fold) of the active enzyme forms of MMP9 (<a href="/entry/120361">120361</a>) in the serum of 5 patients with MADA compared to 16 controls. No significant differences were found for several other metalloproteinases. The findings suggested a pathogenic role for MMP9 in the skeletal manifestations of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18554282" 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="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Afifi2005" class="mim-anchor"></a>
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<p class="mim-text-font">
Afifi, H. H., El-Bassyouni, H. T.
<strong>Mandibuloacral dysplasia: a report of two Egyptian cases.</strong>
Genet. Counsel. 16: 353-362, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16440877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16440877</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16440877" 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="Brown2004" class="mim-anchor"></a>
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Brown, W. T.
<strong>Personal Communication.</strong>
Staten Island, N.Y. 1/12/2004.
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<a id="Cao2003" class="mim-anchor"></a>
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Cao, H., Hegele, R. A.
<strong>LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).</strong>
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[<a href="https://doi.org/10.1007/s10038-003-0025-3" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.10169" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320410135" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1210/jcem-73-5-1056" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archpedi.1992.02160130095028" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.33005" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.33700" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.31983" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2008.01034.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1210/jc.2007-0116" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0021-9681(63)90148-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0021-9681(64)90158-4" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320410133" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/1096-8628(20001127)95:3&lt;293::aid-ajmg23&gt;3.0.co;2-5" target="_blank">Full Text</a>]
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Novelli, G., Muchir, A., Sangiuolo, F., Helbling-Leclerc, A., D'Apice, M. R., Massart, C., Capon, F., Sbraccia, P., Federici, M., Lauro, R., Tudisco, C., Pallotta, R., Scarano, G., Dallapiccola, B., Merlini, L., Bonne, G.
<strong>Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.</strong>
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[<a href="https://doi.org/10.1086/341908" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1984.tb00803.x" target="_blank">Full Text</a>]
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<a id="Parkash1990" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1002/ajmg.1320360411" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.2004.019661" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1046/j.1365-4362.1998.00489.x" target="_blank">Full Text</a>]
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<strong>Lethal neonatal mandibuloacral dysplasia.</strong>
Am. J. Med. Genet. 66: 52-54, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8957511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8957511</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8957511" 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(19961202)66:1&lt;52::AID-AJMG11&gt;3.0.CO;2-P" target="_blank">Full Text</a>]
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<a id="Shen2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Shen, J. J., Brown, C. A., Lupski, J. R., Potocki, L.
<strong>Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.</strong>
J. Med. Genet. 40: 854-857, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14627682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14627682</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14627682" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.40.11.854" target="_blank">Full Text</a>]
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<a id="29" class="mim-anchor"></a>
<a id="Simha2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Simha, V., Agarwal, A. K., Oral, E. A., Fryns, J.-P., Garg, A.
<strong>Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy.</strong>
J. Clin. Endocr. Metab. 88: 2821-2824, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12788894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12788894</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12788894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1210/jc.2002-021575" target="_blank">Full Text</a>]
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<a id="30" class="mim-anchor"></a>
<a id="Simha2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Simha, V., Garg, A.
<strong>Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia.</strong>
J. Clin. Endocr. Metab. 87: 776-785, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11836320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11836320</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11836320" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1210/jcem.87.2.8258" target="_blank">Full Text</a>]
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<a id="31" class="mim-anchor"></a>
<a id="Tenconi1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tenconi, R., Miotti, F., Miotti, A., Audino, G., Ferro, R., Clementi, M.
<strong>Another Italian family with mandibuloacral dysplasia: why does it seem more frequent in Italy?</strong>
Am. J. Med. Genet. 24: 357-364, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3717214/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3717214</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3717214" 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.1320240215" target="_blank">Full Text</a>]
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<a id="Toriello1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Toriello, H. V.
<strong>Mandibuloacral 'dysplasia'. (Letter)</strong>
Am. J. Med. Genet. 41: 138 only, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1951456/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1951456</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1951456" 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.1320410134" target="_blank">Full Text</a>]
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<a id="Toriello1995" class="mim-anchor"></a>
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Toriello, H. V.
<strong>Mandibulo-acral dysplasia: heterogeneity versus variability.</strong>
Clin. Dysmorph. 4: 12-24, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7735501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7735501</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7735501" 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="34" class="mim-anchor"></a>
<a id="Tudisco2000" class="mim-anchor"></a>
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Tudisco, C., Canepa, G., Novelli, G., Dallapiccola, B.
<strong>Familial mandibuloacral dysplasia: report of an additional Italian patient.</strong>
Am. J. Med. Genet. 94: 237-241, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10995511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10995511</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10995511" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/1096-8628(20000918)94:3&lt;237::aid-ajmg10&gt;3.0.co;2-9" target="_blank">Full Text</a>]
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<a id="Van Esch2006" class="mim-anchor"></a>
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Van Esch, H., Agarwal, A. K., Debeer, P., Fryns, J.-P., Garg, A.
<strong>A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.</strong>
J. Clin. Endocr. Metab. 91: 517-521, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16278265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16278265</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16278265" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1210/jc.2005-1297" target="_blank">Full Text</a>]
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<a id="36" class="mim-anchor"></a>
<a id="Welsh1975" class="mim-anchor"></a>
<div class="">
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Welsh, O.
<strong>Study of a family with a new progeroid syndrome.</strong>
Birth Defects Orig. Art. Ser. XI(5): 25-38, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1240776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1240776</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1240776" 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="37" class="mim-anchor"></a>
<a id="Young1971" class="mim-anchor"></a>
<div class="">
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Young, L. W., Radebaugh, J. F., Rubin, P., Sensenbrenner, J. A., Fiorelli, G.
<strong>New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys.</strong>
Birth Defects Orig. Art. Ser. VII(7): 291-297, 1971.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5173234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5173234</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5173234" 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="38" class="mim-anchor"></a>
<a id="Zina1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zina, A. M., Cravario, A., Bundino, S.
<strong>Familial mandibuloacral dysplasia.</strong>
Brit. J. Derm. 105: 719-723, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7317281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7317281</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7317281" 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.1365-2133.1981.tb00984.x" target="_blank">Full Text</a>]
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<a id="39" class="mim-anchor"></a>
<a id="Zirn2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zirn, B., Kress, W., Grimm, T., Berthold, L. D., Neubauer, B., Kuchelmeister, K., Muller, U., Hahn, A.
<strong>Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy.</strong>
Am. J. Med. Genet. 146A: 1049-1054, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18348272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18348272</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18348272" 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.32259" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 2/21/2012
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Cassandra L. Kniffin - updated : 10/13/2010<br>Cassandra L. Kniffin - updated : 4/7/2010<br>Cassandra L. Kniffin - updated : 3/5/2009<br>Cassandra L. Kniffin - updated : 2/13/2009<br>John A. Phillips, III - updated : 9/23/2008<br>Cassandra L. Kniffin - updated : 2/7/2006<br>George E. Tiller - updated : 4/14/2004<br>Victor A. McKusick - updated : 2/17/2004<br>Cassandra L. Kniffin - updated : 1/6/2004<br>John A. Phillips, III - updated : 8/25/2003<br>Victor A. McKusick - updated : 6/26/2003<br>Victor A. McKusick - updated : 8/16/2002<br>John A. Phillips, III - updated : 7/25/2002<br>Victor A. McKusick - updated : 11/29/2000<br>Victor A. McKusick - updated : 11/10/2000<br>Victor A. McKusick - updated : 10/4/2000<br>Iosif W. Lurie - updated : 8/5/1997<br>Iosif W. Lurie - updated : 9/17/1996
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Creation Date:
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Victor A. McKusick : 6/4/1986
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carol : 12/20/2024
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carol : 12/18/2024<br>carol : 04/20/2022<br>alopez : 04/19/2022<br>carol : 04/03/2018<br>carol : 02/22/2012<br>terry : 2/21/2012<br>wwang : 10/19/2010<br>ckniffin : 10/13/2010<br>terry : 9/21/2010<br>wwang : 4/13/2010<br>ckniffin : 4/7/2010<br>carol : 1/15/2010<br>ckniffin : 1/11/2010<br>wwang : 3/11/2009<br>ckniffin : 3/5/2009<br>wwang : 2/19/2009<br>ckniffin : 2/13/2009<br>alopez : 12/29/2008<br>alopez : 9/23/2008<br>wwang : 9/7/2006<br>wwang : 6/22/2006<br>wwang : 2/10/2006<br>ckniffin : 2/7/2006<br>terry : 2/21/2005<br>tkritzer : 1/20/2005<br>carol : 12/8/2004<br>carol : 5/3/2004<br>ckniffin : 4/29/2004<br>alopez : 4/14/2004<br>carol : 2/17/2004<br>tkritzer : 1/13/2004<br>ckniffin : 1/6/2004<br>alopez : 8/25/2003<br>tkritzer : 7/21/2003<br>terry : 6/26/2003<br>tkritzer : 8/23/2002<br>tkritzer : 8/22/2002<br>terry : 8/16/2002<br>tkritzer : 7/25/2002<br>tkritzer : 7/25/2002<br>mcapotos : 1/26/2001<br>mcapotos : 12/13/2000<br>terry : 11/29/2000<br>carol : 11/13/2000<br>terry : 11/10/2000<br>carol : 10/4/2000<br>terry : 10/4/2000<br>jenny : 8/5/1997<br>joanna : 7/7/1997<br>jamie : 2/4/1997<br>mark : 1/29/1997<br>carol : 9/17/1996<br>terry : 5/7/1994<br>mimadm : 2/19/1994<br>carol : 8/24/1992<br>supermim : 3/17/1992<br>carol : 3/7/1992<br>carol : 10/29/1991
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<strong>#</strong> 248370
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MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA
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<em>Alternative titles; symbols</em>
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LIPODYSTROPHY, TYPE A, ASSOCIATED WITH MANDIBULOACRAL DYSPLASIA<br />
CRANIOMANDIBULAR DERMATODYSOSTOSIS
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Other entities represented in this entry:
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MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUDED
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<strong>SNOMEDCT:</strong> 1003431005; &nbsp;
<strong>ORPHA:</strong> 2457, 90153; &nbsp;
<strong>DO:</strong> 0081128; &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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1q22
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Mandibuloacral dysplasia
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248370
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Autosomal recessive
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3
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LMNA
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150330
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that mandibuloacral dysplasia type A (MADA) with partial lipodystrophy is caused by homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA; 150330) on chromosome 1q22.</p><p>Atypical forms of MADA are also caused by mutation in the LMNA gene.</p>
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<strong>Description</strong>
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<p>Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009). </p><p>See also MAD type B (MADB; 608612), which is caused by mutation in the ZMPSTE24 gene (606480).</p>
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<strong>Clinical Features</strong>
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<p>Young et al. (1971) described 2 teenaged males with a hypoplastic mandible producing severe dental crowding, acroosteolysis, stiff joints, atrophy of the skin over hands and feet, and hypoplastic clavicles. The boys had an 'Andy Gump' appearance. Persistently wide cranial sutures and multiple wormian bones were noted. Alopecia and short stature were other features of this progeria-like syndrome. </p><p>Danks et al. (1974) suggested that the patient reported by Cavallazzi et al. (1960) may have had this disorder. The authors also suggested that the same disorder was present in the patient reported by McKusick (1963) as cleidocranial dysostosis with acroosteolysis and McKusick (1964) as pycnodysostosis. That patient died young. The differential diagnosis also includes Hajdu-Cheney syndrome (102500) and acrogeria (201200). Welsh (1975) reported a 'new progeroid syndrome' in 2 males and 2 females from a sibship of 14, suggesting autosomal recessive inheritance; this disorder may have been mandibuloacral dysplasia. </p><p>Pallotta and Morgese (1984) reported 2 Italian brothers with mandibuloacral dysplasia. Hall and Mier (1985) described a 13-year-old male with this disorder, and referred to 3 unpublished cases that included a 37-year-old male and a brother and sister. Tenconi et al. (1986) described an Italian family with 1 female and 2 males affected in a sibship of 11. They noted that of 9 reported affected families, 5 were Italian. </p><p>The 2 brothers reported by Parkash et al. (1990) as examples of Hutchinson-Gilford progeria syndrome (HGPS; 176670) probably had MAD (McKusick, 1991; Toriello, 1991; Cusano and Scarano, 1991). Parkash et al. (1990) commented that the patients had 2 unusual findings, namely, marked resorption of the mandible with loss of teeth in the elder sib and prolonged survival. At the time of report, both sibs were alive and active at ages 32 and 24 years. Both had hypoplastic clavicles with ease of apposition of the shoulders. Acroosteolysis with progressive loss of bone from the distal phalanges of the fingers and toes was found bilaterally. The cranial bones were thin and the anterior fontanels and sutures were still open. In the case of the youngest sib, wormian bones were also present. Parkash (1991) defended the diagnosis of progeria. </p><p>Cutler et al. (1991) and Freidenberg et al. (1992) emphasized the partial lipodystrophy present in the patients they observed. Cutler et al. (1991) described 2 patients with extreme insulin resistance and marked hypermetabolism. Freidenberg et al. (1992) studied the same 2 patients and a third patient, a 41-year-old male, who had been published as an instance of Werner syndrome (277700) at age 24 years (Cohen et al., 1973). Hearing loss was present in all 3 patients. In the patient with MAD syndrome who had previously been misdiagnosed as having Werner syndrome by Cohen et al. (1973), Ng and Stratakis (2000) found premature adrenal cortical dysfunction of the zona reticularis, marked by a decrease in 17,20-lyase activity (609300), consistent with that seen in the elderly. They suggested that the prominence of the patient's eyes was pseudo-proptosis, secondary to lack of subcutaneous periorbital fat. </p><p>Toriello (1995) reviewed published cases and examined the possibility of heterogeneity. </p><p>Seftel et al. (1996) reported a male newborn from South Africa (non-Italian descent) with confluent fontanels, sparse hair and eyebrows, severe micrognathia, bulbar digits, and short clavicles. These manifestations were consistent with mandibuloacral dysplasia. He also had glanular hypospadias and died at 8 days of age. Seftel et al. (1996) considered this case to represent a lethal neonatal form of the disorder. </p><p>Prasad et al. (1998) reported 2 brothers and 2 unrelated girls with typical features of MAD. Both girls presented with foot pain and had a small infantile uterus and soft tissue calcinosis. </p><p>Tudisco et al. (2000) stated that only 11 families of mandibuloacral dysplasia had been reported and that 5 of these were Italian. They described an additional Italian patient born of consanguineous parents. Consanguinity had previously been proved only in the family reported by Zina et al. (1981). In the 33-year-old patient of Tudisco et al. (2000), growth retardation, clavicular dysplasia, and delayed cranial suture closure were first noted at the age of 5 years, when a diagnosis of cleidocranial dysostosis was suggested. After the age of 18 years, alopecia, marked micrognathia, distal phalangeal shortening, and joint stiffness became apparent. His height was 161 cm, and he showed premature loss of the lower teeth. X-rays showed marked osteolysis of the distal finger phalanges, as well as delayed closure of cranial sutures, and mandibular and clavicular hypoplasia. </p><p>Simha and Garg (2002) studied body fat distribution in 2 male and 2 female patients with MAD by anthropometry, dual energy x-ray absorptiometry, and magnetic resonance imaging. Blood glucose and insulin responses during an oral glucose tolerance test and fasting serum lipoproteins were determined. Three of the 4 subjects had loss of subcutaneous fat from the extremities with normal or slight excess in the neck and truncal regions (termed type A pattern). In contrast, 1 patient had generalized loss of subcutaneous fat involving the face, trunk, and extremities (type B pattern; 608612). All of the patients had normal glucose tolerance but had fasting and postprandial hyperinsulinemia suggestive of insulin resistance. Elevated serum triglycerides with low high-density lipoprotein cholesterol levels were noted in 3 subjects. The authors concluded that MAD presents with 2 types of body fat distribution patterns, both of which are associated with insulin resistance and its metabolic complications. </p><p>Cogulu et al. (2003) described a 13-year-old girl with mandibuloacral dysplasia who had absent breast development, although pubic and axillary hair were normal. Menarche began at 10 years and she had regular menstrual cycles. Hormone studies revealed no abnormalities. </p><p>Afifi and El-Bassyouni (2005) reported 2 unrelated Egyptian girls with MAD, who were both born of consanguineous parents. Both patients had micrognathia, prominent eyes, pointed nose, high-arched palate, hypoplastic teeth, and sparse scalp hair. Other common features included loss of subcutaneous fat from both upper and lower limbs and hypo- and hyperpigmented spots over the trunk. Radiologic features showed delayed closure of the cranial sutures, micrognathia, and hypoplastic clavicles. The first patient also had acroosteolysis of the distal phalanges. Both patients had laboratory findings consistent with insulin resistance. Afifi and El-Bassyouni (2005) discussed the differential diagnosis of MAD and noted the phenotypic overlap with several disorders, including HGPS, Werner syndrome, Gottron type acrogeria, Hallermann-Streiff syndrome (234100), and Hajdu-Cheney syndrome. </p><p>Lombardi et al. (2007) identified a patient with an apparent MADA phenotype without clavicular hypoplasia, metabolic imbalances, and resembling limb-girdle myopathy. Clinical features included a hypoplastic mandible, acroosteolysis, pointed nose, partial loss of subcutaneous fat, and a progeric appearance. Due to the absence of clavicular dysplasia and normal metabolic profiles, generally associated with muscle hyposthenia and generalized hypotonia, the authors considered this phenotype an atypical laminopathy. The patient's cells showed nuclear shape abnormalities, accumulation of prelamin A, and irregular lamina thickness. </p><p>Kosho et al. (2007) reported a 56-year-old Japanese woman, born of consanguineous parents, with MAD and type A lipodystrophy confirmed by genetic analysis (150330.0046). The authors stated that she was the oldest reported patient with the disorder. In addition to the MADA phenotype, including progeroid appearance, acroosteolysis of the distal phalanges, and loss of subcutaneous fat in the limbs, she had severe progressive destructive skeletal and osteoporotic changes. Vertebral collapse led to paralysis. However, Kosho et al. (2007) also noted that other factors may have contributed to the severe osteoporosis observed in this patient. </p><p>Garavelli et al. (2009) reported 2 unrelated patients with early childhood onset of MADA features. The first child, a boy, presented at age 5 years, 3 months with bulbous distal phalanges of fingers. He was observed to have ocular proptosis, a thin nose, prominent cheeks, slight micrognathia, malocclusion with overlapping teeth, thin skin with prominent veins, skin spots, and lipodystrophy type A, with an acral loss of fatty tissue also evident on the shoulders. He had wormian bones, acroosteolysis, and decreased vertebral bone density. The second child was a girl, born of consanguineous parents from Pakistan. She presented at age 4 years, 2 months with a round face, chubby cheeks, thin nose, short, broad distal phalanges, and lipodystrophy type A, with subcutaneous fat more evident on the trunk than on limbs. Skeletal survey showed wormian bones, thin clavicles, and short terminal phalanges with acroosteolysis. Both patients were homozygous for the common R527H mutation in LMNA (150330.0021). Garavelli et al. (2009) emphasized that features of this disorder may become apparent as early as preschool age and that bulbous fingertips may be a clue to the diagnosis. </p><p>Guglielmi et al. (2010) provided follow-up on a 43-year-old man, whom they stated was the second oldest reported MADA patient, who had previously been studied by Novelli et al. (2002) and found to be homozygous for an R527H mutation (150330.0021) in the LMNA gene. The patient developed, over a period of nearly 2 years, deformation and swelling of the right elbow, associated with pain and nearly total loss of joint function, with elbow stiffness in slight flexion and severely limited articular excursion in both active and passive pronation and extension. Radiography of upper and lower limbs showed osteolysis and destructive processes of the right elbow, as well as asymptomatic resorption of both femoral greater trochanters that was more pronounced on the left. In particular, the right elbow showed joint space narrowing with loss of articular cartilage, dysplasia of the humeral condyles, erosion of proximal ulna and radius bilaterally, and palmar angulation of the ulnar olecranon with marked signs of hyperostosis and loss of normal articular contacts. Guglielmi et al. (2010) noted that these lesions were absent in radiographs from 7 years earlier, and only minor alterations were detectable in radiographs at onset of symptoms 3 years previously, including less extensive hyperostosis and condylar dysplasia, with preserved articular contacts and no palmar angulation of the ulna. In addition, progression of bone deformities of the hands were evident, with progressive resorption of distal and middle phalanges compared to earlier radiographs. Guglielmi et al. (2010) pointed out that similar, but more extensive, skeletal changes had been described in a 56-year-old Japanese woman who was the oldest MADA patient reported at that time (Kosho et al., 2007), and concluded that in MAD, osteolysis is not confined to the originally described sites (hands and clavicles), but may affect other skeletal regions. </p><p><strong><em>Clinical Variability</em></strong></p><p>
Plasilova et al. (2004) reported 4 affected members of a consanguineous family from north India with a phenotype that included features of both MADA and Hutchinson-Gilford progeria syndrome (HGPS; 176670) associated with a homozygous mutation in the LMNA gene (K542N; 150330.0033). The patients showed uniform skeletal malformations such as acroosteolysis of the digits, micrognathia, and clavicular aplasia/hypoplasia, characteristic of MADA. They also showed hallmark features of progeria. Plasilova et al. (2004) suggested that autosomal recessive MADA and HGPS may represent a single disorder with varying degrees of severity. </p><p>Lombardi et al. (2007) identified a patient with an apparent MADA phenotype without clavicular hypoplasia or metabolic imbalances, and resembling limb-girdle myopathy. Clinical features included a hypoplastic mandible, acroosteolysis, pointed nose, partial loss of subcutaneous fat, and a progeric appearance. Due to the absence of clavicular dysplasia and normal metabolic profiles, generally associated with muscle hyposthenia and generalized hypotonia, the authors considered this phenotype an atypical laminopathy. The patient's cells showed nuclear shape abnormalities, accumulation and prelamin A, and irregular lamina thickness. </p><p>Van Esch et al. (2006) described a 44-year-old man of European descent who had a syndrome involving arthropathy, tendinous calcinosis, and progeroid features. The arthropathy affected predominantly the distal femora and proximal tibia in the knee with tendinous calcifications. Progeroid features included a small pinched nose, small lips, micrognathia with crowded teeth, cataract, and alopecia. He also had generalized lipodystrophy, and sclerodermatous skin. However, he had normal clavicles and no evidence of acroosteolysis. The authors concluded that he had a novel phenotype. He died at 44 years of age from Staphylococcus aureus sepsis resulting from infection of skin ulcers. Genetic analysis identified a homozygous mutation in the LMNA gene (S573L; 150330.0041). The patient's unaffected 15-year-old son and 70-year-old mother were both heterozygous carriers. </p><p>Zirn et al. (2008) reported a 7-year-old Turkish girl, born of consanguineous parents, who was homozygous for a mutation (R471C; 150330.0026) in the LMNA gene. She had a phenotype most consistent with an atypical form of MADA, including lipodystrophy, a progeroid appearance, and congenital muscular dystrophy with rigid spine syndrome. These latter features were reminiscent of Emery-Dreifuss muscular dystrophy (181350), although there was no cardiac involvement. She presented at age 10 months with proximal muscle weakness, contractures, spinal rigidity, and a dystrophic skeletal muscle biopsy. Characteristic progeroid features and features of lipodystrophy and mandibuloacral dysplasia were noted at age 3 years and became more apparent with age. Zirn et al. (2008) commented on the severity of the phenotype and emphasized the phenotypic variability in patients with LMNA mutations. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>By analysis of 5 consanguineous Italian families with MAD, Novelli et al. (2002) demonstrated linkage of the disorder to chromosome 1q21. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The transmission pattern of MADA in the families reported by Simha et al. (2003) was consistent with autosomal recessive inheritance. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In 9 affected patients from 5 consanguineous Italian families with MAD, Novelli et al. (2002) identified a homozygous mutation in the LMNA gene (R527H; 150330.0021). The authors noted that LMNA also causes several distinct disorders, including Dunnigan type familial partial lipodystrophy (151660), a condition that is characterized by subcutaneous fat loss and is invariably associated with insulin resistance and diabetes. Simha et al. (2003) noted that the patients of Novelli et al. (2002) had type A lipodystrophy. </p><p>In 2 pedigrees with MAD and type A lipodystrophy, Simha et al. (2003) identified the homozygous R527H LMNA mutation. </p><p>In a Mexican American boy with MAD born of related parents, Shen et al. (2003) identified homozygosity for the R527H mutation. The authors noted that all the patients reported by Novelli et al. (2002) shared a common disease haplotype, but that the patients reported by Simha et al. (2003) and their Mexican American patient had different haplotypes, indicating independent origins of the mutation. </p><p>In 1 patient with an apparently typical HGPS phenotype who was 28 years old at the time that DNA was obtained, Cao and Hegele (2003) identified compound heterozygosity for 2 missense mutations in the LMNA gene (150330.0025 and 150330.0026); this patient was later determined (Brown, 2004) to have mandibuloacral dysplasia. </p><p>In a patient with a MADA-like phenotype but without clavicular hypoplasia or metabolic imbalances, Lombardi et al. (2007) found compound heterozygosity for missense mutations in the LMNA gene (150330.0021, 150330.0044). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Pathogenesis</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Lombardi et al. (2008) detected significantly higher levels (approximately 4.7-fold) of the active enzyme forms of MMP9 (120361) in the serum of 5 patients with MADA compared to 16 controls. No significant differences were found for several other metalloproteinases. The findings suggested a pathogenic role for MMP9 in the skeletal manifestations of the disorder. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Afifi, H. H., El-Bassyouni, H. T.
<strong>Mandibuloacral dysplasia: a report of two Egyptian cases.</strong>
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</p>
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<p class="mim-text-font">
Brown, W. T.
<strong>Personal Communication.</strong>
Staten Island, N.Y. 1/12/2004.
</p>
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<li>
<p class="mim-text-font">
Cao, H., Hegele, R. A.
<strong>LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).</strong>
J. Hum. Genet. 48: 271-274, 2003.
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[Full Text: https://doi.org/10.1007/s10038-003-0025-3]
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Cavallazzi, C., Cremoncini, R., Quadri, A.
<strong>Su di un caso di disostosi cleido-cranica. [A case of cleidocranial dysostosis].</strong>
Riv. Clin. Pediat. 65: 312-326, 1960.
[PubMed: 13808551]
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Cogulu, O., Gunduz, C., Darcan, S., Kadioglu, B., Ozkinay, F., Ozkinay, C., Arkun, R.
<strong>Mandibuloacral dysplasia with absent breast development. (Letter)</strong>
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[Full Text: https://doi.org/10.1002/ajmg.a.10169]
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<p class="mim-text-font">
Cohen, L. K., Thurmon, T. F., Salvaggio, J.
<strong>Werner&#x27;s syndrome.</strong>
Cutis 12: 76-80, 1973.
</p>
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<p class="mim-text-font">
Cusano, F., Scarano, G.
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Am. J. Med. Genet. 41: 139 only, 1991.
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[Full Text: https://doi.org/10.1002/ajmg.1320410135]
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Cutler, D. L., Kaufmann, S., Freidenberg, G. R.
<strong>Insulin-resistant diabetes mellitus and hypermetabolism in mandibuloacral dysplasia: a newly recognized form of partial lipodystrophy.</strong>
J. Clin. Endocr. Metab. 73: 1056-1061, 1991.
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<p class="mim-text-font">
Danks, D. M., Mayne, V., Norman, H., Wettenhall, B., Hall, R. K.
<strong>Craniomandibular dermatodysostosis.</strong>
Birth Defects Orig. Art. Ser. X(12): 99-105, 1974.
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</p>
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<li>
<p class="mim-text-font">
Freidenberg, G. R., Cutler, D. L., Jones, M. C., Hall, B., Mier, R. J., Culler, F., Jones, K. L., Lozzio, C., Kaufmann, S.
<strong>Severe insulin resistance and diabetes mellitus in mandibuloacral dysplasia.</strong>
Am. J. Dis. Child. 146: 93-99, 1992.
[PubMed: 1736653]
[Full Text: https://doi.org/10.1001/archpedi.1992.02160130095028]
</p>
</li>
<li>
<p class="mim-text-font">
Garavelli, L., D'Apice, M. R., Rivieri, F., Bertoli, M., Wischmeijer, A., Gelmini, C., De Nigris, V., Albertini, E., Rosato, S., Virdis, R., Bacchini, E., Dal Zotto, R., Banchini, G., Iughetti, L., Bernasconi, S., Superti-Furga, A., Novelli, G.
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Am. J. Med. Genet. 149A: 2258-2264, 2009.
[PubMed: 19764019]
[Full Text: https://doi.org/10.1002/ajmg.a.33005]
</p>
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<li>
<p class="mim-text-font">
Guglielmi, V., D'Adamo, M., D'Apice, M. R., Bellia, A., Lauro, D., Federici, M., Lauro, R., Novelli, G., Sbraccia, P.
<strong>Elbow deformities in a patient with mandibuloacral dysplasia type A.</strong>
Am. J. Med. Genet. 152A: 2711-2713, 2010.
[PubMed: 20949529]
[Full Text: https://doi.org/10.1002/ajmg.a.33700]
</p>
</li>
<li>
<p class="mim-text-font">
Hall, B. D., Mier, R. J.
<strong>Mandibuloacral dysplasia: a rare progressive disorder with postnatal onset. (Abstract)</strong>
Proc. Greenwood Genet. Center 4: 125-126, 1985.
</p>
</li>
<li>
<p class="mim-text-font">
Kosho, T., Takahashi, J., Momose, T., Nakamura, A., Sakurai, A., Wada, T., Yoshida, K., Wakui, K., Suzuki, T., Kasuga, K., Nishimura, G., Kato, H., Fukushima, Y.
<strong>Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes.</strong>
Am. J. Med. Genet. 143A: 2598-2603, 2007.
[PubMed: 17935239]
[Full Text: https://doi.org/10.1002/ajmg.a.31983]
</p>
</li>
<li>
<p class="mim-text-font">
Lombardi, F., Fasciglione, G. F., D'Apice, M. R., Vielle, A., D'Adamo, M., Sbraccia, P., Marini, S., Borgiani, P., Coletta, M., Novelli, G.
<strong>Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome.</strong>
Clin. Genet. 74: 374-383, 2008.
[PubMed: 18554282]
[Full Text: https://doi.org/10.1111/j.1399-0004.2008.01034.x]
</p>
</li>
<li>
<p class="mim-text-font">
Lombardi, F., Gullotta, F., Columbaro, M., Filareto, A., D'Adamo, M., Vielle, A., Guglielmi, V., Nardone, A. M., Azzolini, V., Grosso, E., Lattanzi, G., D'Apice, M. R., Masala, S., Maraldi, N. M., Sbraccia, P., Novelli, G.
<strong>Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype.</strong>
J. Clin. Endocr. Metab. 92: 4467-4471, 2007.
[PubMed: 17848409]
[Full Text: https://doi.org/10.1210/jc.2007-0116]
</p>
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<li>
<p class="mim-text-font">
McKusick, V. A.
<strong>Medical genetics 1962.</strong>
J. Chronic Dis. 16: 457-634, 1963.
[PubMed: 14042963]
[Full Text: https://doi.org/10.1016/0021-9681(63)90148-6]
</p>
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<p class="mim-text-font">
McKusick, V. A.
<strong>Medical genetics 1963.</strong>
J. Chronic Dis. 17: 1077-1215, 1964.
[PubMed: 14255733]
[Full Text: https://doi.org/10.1016/0021-9681(64)90158-4]
</p>
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<p class="mim-text-font">
McKusick, V. A.
<strong>Review of Dr. Parkash&#x27;s report. (Letter)</strong>
Am. J. Med. Genet. 41: 137 only, 1991.
[PubMed: 1951455]
[Full Text: https://doi.org/10.1002/ajmg.1320410133]
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<p class="mim-text-font">
Ng, D., Stratakis, C. A.
<strong>Premature adrenal cortical dysfunction in mandibuloacral dysplasia: a progeroid-like syndrome. (Letter)</strong>
Am. J. Med. Genet. 95: 293-295, 2000.
[PubMed: 11102943]
[Full Text: https://doi.org/10.1002/1096-8628(20001127)95:3&lt;293::aid-ajmg23&gt;3.0.co;2-5]
</p>
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<p class="mim-text-font">
Novelli, G., Muchir, A., Sangiuolo, F., Helbling-Leclerc, A., D'Apice, M. R., Massart, C., Capon, F., Sbraccia, P., Federici, M., Lauro, R., Tudisco, C., Pallotta, R., Scarano, G., Dallapiccola, B., Merlini, L., Bonne, G.
<strong>Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.</strong>
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[PubMed: 12075506]
[Full Text: https://doi.org/10.1086/341908]
</p>
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<p class="mim-text-font">
Pallotta, R., Morgese, G.
<strong>Mandibuloacral dysplasia: a rare progeroid syndrome: two brothers confirm autosomal recessive inheritance.</strong>
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[PubMed: 6467666]
[Full Text: https://doi.org/10.1111/j.1399-0004.1984.tb00803.x]
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<p class="mim-text-font">
Parkash, H., Sidhu, S. S., Raghavan, R., Deshmukh, R. N.
<strong>Hutchinson-Gilford progeria: familial occurrence.</strong>
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[PubMed: 2389799]
[Full Text: https://doi.org/10.1002/ajmg.1320360411]
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<p class="mim-text-font">
Parkash, H.
<strong>Reply to Dr. Toriello. (Letter)</strong>
Am. J. Med. Genet. 41: 140 only, 1991.
</p>
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<li>
<p class="mim-text-font">
Plasilova, M., Chattopadhyay, C., Pal, P., Schaub, N. A., Buechner, S. A., Mueller, H., Miny, P., Ghosh, A., Heinimann, K.
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[PubMed: 15286156]
[Full Text: https://doi.org/10.1136/jmg.2004.019661]
</p>
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<p class="mim-text-font">
Prasad, P. V. S., Padmavathy, L., Sethurajan, S.
<strong>Familial mandibuloacral dysplasia--a report of four cases.</strong>
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[Full Text: https://doi.org/10.1046/j.1365-4362.1998.00489.x]
</p>
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<p class="mim-text-font">
Seftel, M. D., Wright, C. A., Li Wan Po, P., de Ravel, T. J. L.
<strong>Lethal neonatal mandibuloacral dysplasia.</strong>
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[PubMed: 8957511]
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</p>
</li>
<li>
<p class="mim-text-font">
Shen, J. J., Brown, C. A., Lupski, J. R., Potocki, L.
<strong>Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.</strong>
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[PubMed: 14627682]
[Full Text: https://doi.org/10.1136/jmg.40.11.854]
</p>
</li>
<li>
<p class="mim-text-font">
Simha, V., Agarwal, A. K., Oral, E. A., Fryns, J.-P., Garg, A.
<strong>Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy.</strong>
J. Clin. Endocr. Metab. 88: 2821-2824, 2003.
[PubMed: 12788894]
[Full Text: https://doi.org/10.1210/jc.2002-021575]
</p>
</li>
<li>
<p class="mim-text-font">
Simha, V., Garg, A.
<strong>Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia.</strong>
J. Clin. Endocr. Metab. 87: 776-785, 2002.
[PubMed: 11836320]
[Full Text: https://doi.org/10.1210/jcem.87.2.8258]
</p>
</li>
<li>
<p class="mim-text-font">
Tenconi, R., Miotti, F., Miotti, A., Audino, G., Ferro, R., Clementi, M.
<strong>Another Italian family with mandibuloacral dysplasia: why does it seem more frequent in Italy?</strong>
Am. J. Med. Genet. 24: 357-364, 1986.
[PubMed: 3717214]
[Full Text: https://doi.org/10.1002/ajmg.1320240215]
</p>
</li>
<li>
<p class="mim-text-font">
Toriello, H. V.
<strong>Mandibuloacral &#x27;dysplasia&#x27;. (Letter)</strong>
Am. J. Med. Genet. 41: 138 only, 1991.
[PubMed: 1951456]
[Full Text: https://doi.org/10.1002/ajmg.1320410134]
</p>
</li>
<li>
<p class="mim-text-font">
Toriello, H. V.
<strong>Mandibulo-acral dysplasia: heterogeneity versus variability.</strong>
Clin. Dysmorph. 4: 12-24, 1995.
[PubMed: 7735501]
</p>
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<li>
<p class="mim-text-font">
Tudisco, C., Canepa, G., Novelli, G., Dallapiccola, B.
<strong>Familial mandibuloacral dysplasia: report of an additional Italian patient.</strong>
Am. J. Med. Genet. 94: 237-241, 2000.
[PubMed: 10995511]
[Full Text: https://doi.org/10.1002/1096-8628(20000918)94:3&lt;237::aid-ajmg10&gt;3.0.co;2-9]
</p>
</li>
<li>
<p class="mim-text-font">
Van Esch, H., Agarwal, A. K., Debeer, P., Fryns, J.-P., Garg, A.
<strong>A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.</strong>
J. Clin. Endocr. Metab. 91: 517-521, 2006.
[PubMed: 16278265]
[Full Text: https://doi.org/10.1210/jc.2005-1297]
</p>
</li>
<li>
<p class="mim-text-font">
Welsh, O.
<strong>Study of a family with a new progeroid syndrome.</strong>
Birth Defects Orig. Art. Ser. XI(5): 25-38, 1975.
[PubMed: 1240776]
</p>
</li>
<li>
<p class="mim-text-font">
Young, L. W., Radebaugh, J. F., Rubin, P., Sensenbrenner, J. A., Fiorelli, G.
<strong>New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys.</strong>
Birth Defects Orig. Art. Ser. VII(7): 291-297, 1971.
[PubMed: 5173234]
</p>
</li>
<li>
<p class="mim-text-font">
Zina, A. M., Cravario, A., Bundino, S.
<strong>Familial mandibuloacral dysplasia.</strong>
Brit. J. Derm. 105: 719-723, 1981.
[PubMed: 7317281]
[Full Text: https://doi.org/10.1111/j.1365-2133.1981.tb00984.x]
</p>
</li>
<li>
<p class="mim-text-font">
Zirn, B., Kress, W., Grimm, T., Berthold, L. D., Neubauer, B., Kuchelmeister, K., Muller, U., Hahn, A.
<strong>Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy.</strong>
Am. J. Med. Genet. 146A: 1049-1054, 2008.
[PubMed: 18348272]
[Full Text: https://doi.org/10.1002/ajmg.a.32259]
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