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Entry
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- #309350 - MELNICK-NEEDLES SYNDROME; MNS
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- OMIM
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<p>
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<span class="h4">#309350</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/309350"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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</span>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=MELNICK-NEEDLES SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2297&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1393/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/4587" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/melnick-needles-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=309350[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2484" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/e20b80c6-612a-4132-adbd-37bfcd1b11a3/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111788" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/309350" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111788" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 13449007<br />
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<strong>ORPHA:</strong> 2484<br />
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<strong>DO:</strong> 0111788<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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309350
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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MELNICK-NEEDLES SYNDROME; MNS
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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MELNICK-NEEDLES OSTEODYSPLASTY<br />
|
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OSTEODYSPLASTY OF MELNICK AND NEEDLES
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/X/857?start=-3&limit=10&highlight=857">
|
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Xq28
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Melnick-Needles syndrome
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/309350"> 309350 </a>
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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</span>
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</td>
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<td>
|
|
<span class="mim-font">
|
|
FLNA
|
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</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300017"> 300017 </a>
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</span>
|
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</td>
|
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</tr>
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</tbody>
|
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</table>
|
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</div>
|
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</div>
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<div>
|
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|
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/309350" 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>
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<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/309350" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/309350" 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>
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<div>
|
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<p />
|
|
</div>
|
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|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- X-linked dominant <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847879&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847879</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span><br />
|
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|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short to normal stature <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839811&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839811</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Delayed closure of fontanel <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/82779003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">82779003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0277828&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0277828</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000270</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Small face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000274</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000274</a>]</span><br /> -
|
|
Prominent hirsute forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839813&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839813</a>]</span><br /> -
|
|
Full cheek <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><br /> -
|
|
Micrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Micrognathia-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Prominent supraorbital ridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842060&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842060</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000336</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000336</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Large ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275480001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275480001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0554972&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0554972</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000400" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000400</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000400" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000400</a>]</span><br /> -
|
|
Recurrent otitis media <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0747085&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0747085</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000403" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000403</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000403" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000403</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Exophthalmos <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18265008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18265008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H05.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H05.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015300&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015300</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 /> -
|
|
Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cleft palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837218</a>, <a href="https://bioportal.bioontology.org/search?q=C2981150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2981150</a>, <a href="https://bioportal.bioontology.org/search?q=C2240378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240378</a>, <a href="https://bioportal.bioontology.org/search?q=C0008925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br />
|
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|
</span>
|
|
</div>
|
|
</div>
|
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|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Malaligned teeth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852504&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852504</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000692" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000692</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000692" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000692</a>]</span><br /> -
|
|
Delayed tooth eruption <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5639000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5639000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239174&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239174</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000684</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000684</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Neck </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Long neck <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839816</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000472" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000472</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000472" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000472</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=619db1bb487293c86a95953c08d87354" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Neck,Long-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=619db1bb487293c86a95953c08d87354" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mitral valve prolapse <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409712001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409712001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8074002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8074002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026267&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026267</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001634</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001634</a>]</span><br /> -
|
|
Tricuspid valve prolapse <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253383003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253383003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040962&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040962</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001704" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001704</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001704" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001704</a>]</span><br /> -
|
|
Noncompaction of ventricular myocardium <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839832&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839832</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012817" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012817</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Recurrent respiratory infections <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806482&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806482</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002205" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002205</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002205" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002205</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Lung </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pulmonary hypertension <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70995007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70995007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I27.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I27.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020542&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020542</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002092" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002092</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Features </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Narrow shoulders <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249671009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249671009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426790&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426790</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000774</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000774</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ribs Sternum Clavicles & Scapulae </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pectus excavatum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/391987005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">391987005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/391982004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">391982004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016842&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016842</a>, <a href="https://bioportal.bioontology.org/search?q=C2051831&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2051831</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000767" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000767</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000767" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000767</a>]</span><br /> -
|
|
Irregular ribbon-like ribs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839810&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839810</a>]</span><br /> -
|
|
Short clavicles <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/93250003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">93250003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249686003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249686003</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>, <a href="https://bioportal.bioontology.org/search?q=C0426807&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426807</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 /> -
|
|
Short scapulae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846434&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846434</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000882</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000882</a>]</span><br />
|
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</span>
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|
</div>
|
|
</div>
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</div>
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</div>
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Features </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Omphalocele (males) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839812&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839812</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18735004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18735004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q79.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q79.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/756.72" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">756.72</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001539" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001539</a>]</span><br />
|
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|
</span>
|
|
</div>
|
|
</div>
|
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
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|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hydronephrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43064006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43064006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.30</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/591" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">591</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020295</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ureters </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ureteral stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95574003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95574003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25341005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25341005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521618&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521618</a>, <a href="https://bioportal.bioontology.org/search?q=C3887590&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887590</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000071" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000071</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000071" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000071</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skull </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Small mandible with obtuse angle <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839817</a>]</span><br /> -
|
|
Hypoplastic coronoid process <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839818&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839818</a>]</span><br /> -
|
|
Dense skull base <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839819&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839819</a>]</span><br /> -
|
|
Delayed paranasal sinus development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839820&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839820</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Tall vertebrae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839821&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839821</a>]</span><br /> -
|
|
Kyphoscoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405771009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405771009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405772002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405772002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405773007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405773007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0600033&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0600033</a>, <a href="https://bioportal.bioontology.org/search?q=C0575158&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575158</a>, <a href="https://bioportal.bioontology.org/search?q=C0345392&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345392</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002751</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0008453" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008453</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002751</a>]</span><br /> -
|
|
Anterior concavity of thoracic vertebrae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004611" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004611</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004611" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004611</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pelvis </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Coxa valga <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33754009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33754009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16979000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16979000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299236004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299236004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q65.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q65.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.61</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/736.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158480</a>, <a href="https://bioportal.bioontology.org/search?q=C0152430&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152430</a>, <a href="https://bioportal.bioontology.org/search?q=C0239137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239137</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002673" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002673</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002673" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002673</a>]</span><br /> -
|
|
Iliac flaring <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839823&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839823</a>]</span><br /> -
|
|
Hip dislocation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/157265008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">157265008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/S73.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">S73.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/835" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">835</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019554&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019554</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002827" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002827</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002827" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002827</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short upper arms <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1832117&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832117</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005792" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005792</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005792" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005792</a>]</span><br /> -
|
|
Bowing of humerus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859460&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859460</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003865" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003865</a>]</span><br /> -
|
|
Bowing of radius <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859399&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859399</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002986" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002986</a>]</span><br /> -
|
|
Bowing of ulna <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865847&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865847</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003031" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003031</a>]</span><br /> -
|
|
Bowing of tibia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002982" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002982</a>]</span><br /> -
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|
Metaphyseal flaring of long bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850135&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850135</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003015</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003015</a>]</span><br /> -
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|
Genu valgum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299330008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299330008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52012001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52012001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.06" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.06</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158484&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158484</a>, <a href="https://bioportal.bioontology.org/search?q=C0576093&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0576093</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002857" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002857</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002857" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002857</a>]</span><br /> -
|
|
Limited elbow extension <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867103&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867103</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001377" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001377</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001377" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001377</a>]</span><br />
|
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</span>
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</div>
|
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short distal phalanges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839829</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009882</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009882</a>]</span><br /> -
|
|
Cone-shaped epiphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865037&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865037</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010579" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010579</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010579" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010579</a>]</span><br /> -
|
|
Acroosteolysis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63122002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63122002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27201004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27201004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0917990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0917990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009771" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009771</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009771" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009771</a>]</span><br />
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</span>
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</div>
|
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- Club feet <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397932003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397932003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156475005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156475005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.89</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span><br /> -
|
|
Pes planus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23407003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23407003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/203534009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">203534009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53226007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53226007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.61</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">734</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016202&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016202</a>, <a href="https://bioportal.bioontology.org/search?q=C0392477&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392477</a>, <a href="https://bioportal.bioontology.org/search?q=C0264133&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0264133</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001763" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001763</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001763" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001763</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=1f893093d35c2d1df583eed57a47b6cb" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Pes_Planus-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=1f893093d35c2d1df583eed57a47b6cb" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hirsute forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839830&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839830</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011335" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011335</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011335" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011335</a>]</span><br /> -
|
|
Skin hyperlaxity (males) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839831&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839831</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Hair </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Coarse hair <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48610005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48610005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0277959&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0277959</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002208" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002208</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002208" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002208</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Delayed motor development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854301</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br /> -
|
|
Abnormal gait <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22325002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22325002</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/781.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0575081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span><br />
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</span>
|
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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- Hoarse voice <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50219008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50219008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R49.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R49.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019825&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019825</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001609" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001609</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001609" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001609</a>]</span><br />
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Otopalatodigital syndrome type I (OPD1, <a href="/entry/311300">311300</a>) is an allelic disorder<br /> -
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Periventricular heterotopia (<a href="/entry/300049">300049</a>) is an allelic disorder<br />
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- Caused by mutation in the filamin A gene (FLNA, <a href="/entry/300017#0012">300017.0012</a>)<br />
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<p>A number sign (#) is used with this entry because Melnick-Needles syndrome (MNS) is caused by mutation in the FLNA gene (<a href="/entry/300017">300017</a>) on chromosome Xq28.</p>
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<p>Melnick-Needles syndrome is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. These disorders, including frontometaphyseal dysplasia (FMD; <a href="/entry/305620">305620</a>), otopalatodigital syndrome-1 (OPD1; <a href="/entry/311300">311300</a>), and otopalatodigital syndrome-2 (OPD2; <a href="/entry/304120">304120</a>), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD is characterized by a generalized skeletal dysplasia, deafness and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by <a href="#15" class="mim-tip-reference" title="Robertson, S. P. <strong>Filamin A: phenotypic diversity.</strong> Curr. Opin. Genet. Dev. 15: 301-307, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15917206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15917206</a>] [<a href="https://doi.org/10.1016/j.gde.2005.04.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15917206">Robertson, 2005</a>). <a href="#25" class="mim-tip-reference" title="Verloes, A., Lesenfants, S., Barr, M., Grange, D. K., Journel, H., Lombet, J., Mortier, G., Roeder, E. <strong>Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.</strong> Am. J. Med. Genet. 90: 407-422, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10706363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10706363</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(20000228)90:5<407::aid-ajmg11>3.0.co;2-d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10706363">Verloes et al. (2000)</a> suggested that these disorders constitute a single entity, which they called 'fronto-otopalatodigital osteodysplasia.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15917206+10706363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#12" class="mim-tip-reference" title="Melnick, J. C., Needles, C. F. <strong>An undiagnosed bone dysplasia: a two family study of 4 generations and 3 generations.</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 97: 39-48, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5938049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5938049</a>] [<a href="https://doi.org/10.2214/ajr.97.1.39" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5938049">Melnick and Needles (1966)</a> described families that contained multiple cases in multiple generations of a severe congenital bone disorder characterized by typical facies (exophthalmos, full cheeks, micrognathia and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of bones of legs, irregular constrictions in the ribs, and sclerosis of base of skull. Male-to-male transmission was thought to have occurred in 1 instance. Ureteral obstruction was observed in the original case (<a href="#12" class="mim-tip-reference" title="Melnick, J. C., Needles, C. F. <strong>An undiagnosed bone dysplasia: a two family study of 4 generations and 3 generations.</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 97: 39-48, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5938049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5938049</a>] [<a href="https://doi.org/10.2214/ajr.97.1.39" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5938049">Melnick and Needles, 1966</a>) and in several others reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5938049" 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>'Osteodysplasty' was the term suggested by <a href="#2" class="mim-tip-reference" title="Coste, F., Maroteaux, P., Chouraki, L. <strong>Osteodysplasty (Melnick and Needles' syndrome): report of a case.</strong> Ann. Rheum. Dis. 27: 360-366, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5666677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5666677</a>] [<a href="https://doi.org/10.1136/ard.27.4.360" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5666677">Coste et al. (1968)</a>, who described an affected 58-year-old woman. Bone disease was recognized in infancy when she began to walk. Normal childbirth was impossible because of contracted pelvis. Osteoarthritis of the lumbar spine and hips gave much pain. Her height was normal. Striking facies comprised frog-like eyes, high forehead, full red cheeks, and receding chin. X-rays showed curved long bones, tortuous ribboned ribs, and deformed clavicles, scapula, and pelvis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5666677" 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="Beighton, P., Hamersma, H. <strong>Frontometaphyseal dysplasia: autosomal dominant or X-linked?</strong> J. Med. Genet. 17: 53-56, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7189217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7189217</a>] [<a href="https://doi.org/10.1136/jmg.17.1.53" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7189217">Beighton and Hamersma (1980)</a> speculated that frontometaphyseal dysplasia and osteodysplasty (MNS) may be due to the same gene. They suggested that the gene may be X-linked and that the former condition is the usual phenotype in hemizygous males and the latter condition the usual phenotype in heterozygous females. They pointed out that the manifestations in Melnick and Needles' 2 kindreds (13 affected persons; 9 females, 4 males) were highly variable. Apart from one doubtful instance, no male-to-male transmission was reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7189217" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Features emphasized by <a href="#7" class="mim-tip-reference" title="Kozlowski, K. <strong>Personal Communication.</strong> Sydney, Australia 5/29/1993."None>Kozlowski (1993)</a> on the basis of 9 cases included small, deformed chest, large anterior fontanel associated with prominent forehead, and high vertebrae. One of his patients was diagnosed at the age of 37 years. All were female.</p><p><a href="#9" class="mim-tip-reference" title="Kristiansen, M., Knudsen, G. P., Soyland, A., Westvik, J., Orstavik, K. H. <strong>Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear.</strong> Am. J. Med. Genet. 108: 120-127, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11857561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11857561</a>] [<a href="https://doi.org/10.1002/ajmg.10245" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11857561">Kristiansen et al. (2002)</a> reported 2 severely affected girls with Melnick-Needles syndrome and their mildly affected mother. They analyzed the X-chromosome inactivation pattern in this family to determine if it was related to the variable phenotype. A very skewed inactivation pattern was observed in the blood from both the mildly affected mother and one of her daughters, whereas a highly skewed inactivation pattern in buccal smear DNA was observed in the mother only. X inactivation, therefore, did not explain the variable phenotype in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11857561" 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>Males Born to Affected Mothers</em></strong></p><p>
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<a href="#27" class="mim-tip-reference" title="von Oeyen, P. T., Holmes, L. B., Trelstad, R. L., Griscom, N. T. <strong>Melnick-Needles syndrome with omphalocele and renal hypoplasia. (Abstract)</strong> Am. J. Hum. Genet. 33: 92A only, 1981."None>Von Oeyen et al. (1981)</a> observed an affected woman whose son, who died soon after birth, was also affected. The son had omphalocele and hypoplastic kidneys. <a href="#26" class="mim-tip-reference" title="von Oeyen, P., Holmes, L. B., Trelstad, R. L., Griscom, N. T. H. <strong>Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome).</strong> Am. J. Med. Genet. 13: 453-463, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7158644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7158644</a>] [<a href="https://doi.org/10.1002/ajmg.1320130416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7158644">Von Oeyen et al. (1982)</a> reported a severely affected male with multiple congenital anomalies who was born of an affected mother and died soon after birth. A similar case was reported by <a href="#22" class="mim-tip-reference" title="Theander, G., Ekberg, O. <strong>Congenital malformations associated with maternal osteodysplasty.</strong> Acta Radiol. Diagn. 22: 369-377, 1981."None>Theander and Ekberg (1981)</a>. <a href="#29" class="mim-tip-reference" title="Zackai, E. H., Donnenfeld, A. E., Conard, K. A., Roberts, N. S., Borns, P. F. <strong>The male Melnick-Needles syndrome phenotype. (Abstract)</strong> Am. J. Hum. Genet. 39: A88 only, 1986."None>Zackai et al. (1986)</a> and <a href="#3" class="mim-tip-reference" title="Donnenfeld, A. E., Conard, K. A., Roberts, N. S., Borns, P. F., Zackai, E. H. <strong>Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome.</strong> Am. J. Med. Genet. 27: 159-173, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3605194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3605194</a>] [<a href="https://doi.org/10.1002/ajmg.1320270117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3605194">Donnenfeld et al. (1987)</a> described a lethally affected male fetus identified prenatally in a woman with oligohydramnios and MNS. The condition was detected sonographically at 16 weeks' gestation. Autopsy on the electively aborted fetus showed exophthalmos, prune belly sequence with urethral atresia and megacystis, tetralogy of Fallot, atrioventricular canal defect, and complete malrotation of the gut. <a href="#8" class="mim-tip-reference" title="Krajewska-Walasek, M., Winkielman, J., Gorlin, R. J. <strong>Melnick-Needles syndrome in males.</strong> Am. J. Med. Genet. 27: 153-158, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3605193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3605193</a>] [<a href="https://doi.org/10.1002/ajmg.1320270116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3605193">Krajewska-Walasek et al. (1987)</a> found 6 examples of this syndrome in males: there were 3 well-documented lethal examples of the disorder among the offspring of affected females and 3 examples in males born to normal parents and presumably representing new mutations. One of the patients described in detail died of pneumonia at age 3 after having repeated bouts of pneumonia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3605193+3605194+7158644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="van der Lely, H., Robben, S. G. F., Meradji, M., Derksen-Lubsen, G. <strong>Melnick-Needles syndrome (osteodysplasty) in an older male--report of a case and a review of the literature.</strong> Brit. J. Radiol. 64: 852-854, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1913051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1913051</a>] [<a href="https://doi.org/10.1259/0007-1285-64-765-852" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1913051">Van der Lely et al. (1991)</a> described typical features in an 11-year-old black male who was the sixth of 8 children of healthy, unrelated parents. He may be the oldest surviving male with this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1913051" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Neou, P., Kyrkanides, S., Gioureli, E., Bartsocas, C. S. <strong>Melnick-Needles syndrome in a mother and her son.</strong> Genet. Counsel. 7: 123-129, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8831131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8831131</a>]" pmid="8831131">Neou et al. (1996)</a> described a mother with Melnick-Needles syndrome whose son had partial manifestations of the syndrome. His facial features were similar to those of his mother. He was not short, but was mentally retarded. His radiologic examination showed sclerotic skull base, ribbon-like flaring of ribs, short bowed clavicles, small pelvis with thin iliac crest, and moderate flaring of the distal part of the long bones. In addition, he had atrial septal defect, pulmonic stenosis, intestinal malrotation, and ectopic kidney. <a href="#13" class="mim-tip-reference" title="Neou, P., Kyrkanides, S., Gioureli, E., Bartsocas, C. S. <strong>Melnick-Needles syndrome in a mother and her son.</strong> Genet. Counsel. 7: 123-129, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8831131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8831131</a>]" pmid="8831131">Neou et al. (1996)</a> proposed that Melnick-Needles syndrome is not always lethal in males born to affected mothers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8831131" 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="#25" class="mim-tip-reference" title="Verloes, A., Lesenfants, S., Barr, M., Grange, D. K., Journel, H., Lombet, J., Mortier, G., Roeder, E. <strong>Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.</strong> Am. J. Med. Genet. 90: 407-422, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10706363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10706363</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(20000228)90:5<407::aid-ajmg11>3.0.co;2-d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10706363">Verloes et al. (2000)</a> reported a mild case of OPD2, a severe case of OPD2 with anomalies of the central nervous system and some manifestations of frontometaphyseal dysplasia, a lethal case of OPD2 with similarities to Melnick-Needles syndrome, and 3 unrelated boys born to mothers with MNS (1 with a severe form, 1 with a lethal form, and an aborted fetus). They reviewed the features in these disorders and in OPD1 and suggested that these disorders constitute a single entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10706363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><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>Melnick-Needles syndrome is an X-linked dominant disorder. Most cases described are in females. <a href="#14" class="mim-tip-reference" title="Nyhan, W. L., Sakati, N. O. <strong>Genetic and Malformation Syndromes in Clinical Medicine.</strong> Chicago: Year Book Med. Publ. (pub.) 1976. Pp. 427-429."None>Nyhan and Sakati (1976)</a> described a family with 4 affected females in 3 successive generations. <a href="#26" class="mim-tip-reference" title="von Oeyen, P., Holmes, L. B., Trelstad, R. L., Griscom, N. T. H. <strong>Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome).</strong> Am. J. Med. Genet. 13: 453-463, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7158644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7158644</a>] [<a href="https://doi.org/10.1002/ajmg.1320130416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7158644">Von Oeyen et al. (1982)</a> found a sex ratio of 21 females and 3 males in reported cases. <a href="#11" class="mim-tip-reference" title="Melnick, J. C. <strong>Osteodysplasty (Melnick and Needles syndrome).In: Papadatos, C. J.; Bartsocas, C. S. (eds.) : Skeletal Dysplasias.</strong> New York: Alan R. Liss (pub.) 1982. Pp. 133-137."None>Melnick (1982)</a> studied 4 additional families in the United States; in two, 3 generations were affected and in the other two, 2 generations. The Melnick-Needles syndrome had been assumed to be an autosomal dominant disorder. However, <a href="#5" class="mim-tip-reference" title="Gorlin, R. J., Knier, J. <strong>X-linked or autosomal dominant, lethal in the male, inheritance of the Melnick-Needles (osteodysplasty) syndrome? A reappraisal. (Letter)</strong> Am. J. Med. Genet. 13: 465-467, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7158645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7158645</a>] [<a href="https://doi.org/10.1002/ajmg.1320130417" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7158645">Gorlin and Knier (1982)</a> analyzed reported families with restudy of some. Melnick had reexamined the male 'cases' in the kindred he reported in 1966 and found them in fact to be normal. In all, <a href="#5" class="mim-tip-reference" title="Gorlin, R. J., Knier, J. <strong>X-linked or autosomal dominant, lethal in the male, inheritance of the Melnick-Needles (osteodysplasty) syndrome? A reappraisal. (Letter)</strong> Am. J. Med. Genet. 13: 465-467, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7158645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7158645</a>] [<a href="https://doi.org/10.1002/ajmg.1320130417" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7158645">Gorlin and Knier (1982)</a> found 23 patients in 15 pedigrees. Most cases were sporadic and may represent new mutations. In only 3 pedigrees was there transmission from one generation to the next, always female to female. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7158644+7158645" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="ter Haar, B., Hamel, B., Hendriks, J., de Jager, J. <strong>Melnick-Needles syndrome: indication for an autosomal recessive form.</strong> Am. J. Med. Genet. 13: 469-477, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7158646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7158646</a>] [<a href="https://doi.org/10.1002/ajmg.1320130418" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7158646">Ter Haar et al. (1982)</a> suggested autosomal recessive inheritance on the basis of a kindred with an affected brother and sister and their affected fourth cousin. This disorder was later characterized as a distinct entity and named Frank-ter Haar syndrome (<a href="/entry/249420">249420</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7158646" 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 review by <a href="#28" class="mim-tip-reference" title="Wettke-Schafer, R., Kantner, G. <strong>X-linked dominant inherited diseases with lethality in hemizygous males.</strong> Hum. Genet. 64: 1-23, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6873941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6873941</a>] [<a href="https://doi.org/10.1007/BF00289472" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6873941">Wettke-Schafer and Kantner (1983)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6873941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#20" class="mim-tip-reference" title="Svejcar, J. <strong>Biochemical abnormalities in connective tissue of osteodysplasty of Melnick-Needles and dyssegmental dwarfism.</strong> Clin. Genet. 23: 369-375, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6851229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6851229</a>]" pmid="6851229">Svejcar (1983)</a> found an increased content of collagen; the sclerosing bone process may be an expression thereof. <a href="#4" class="mim-tip-reference" title="Fryns, J. P., Schinzel, A., Van den Berghe, H. <strong>Hyperlaxity in males with Melnick-Needles syndrome.</strong> Am. J. Med. Genet. 29: 607-611, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3377003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3377003</a>] [<a href="https://doi.org/10.1002/ajmg.1320290319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3377003">Fryns et al. (1988)</a> emphasized hyperlaxity of skin and joints as suggesting that this condition is a generalized connective tissue disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3377003+6851229" 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>X-linked inheritance is established by the demonstration of <a href="#18" class="mim-tip-reference" title="Robertson, S. P., Twigg, S. R. F., Sutherland-Smith, A. J., Biancalana, V., Gorlin, R. J., Horn, D., Kenwrick, S. J., Kim, C. A., Morava, E., Newbury-Ecob, R., Orstavik, K. H., Quarrell, O. W. J., Schwartz, C. E., Shears, D. J., Suri, M., Kendrick-Jones, J., OPD-spectrum Disorders Clinical Collaborative Group, Wilkie, A. O. M. <strong>Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.</strong> Nature Genet. 33: 487-491, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12612583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12612583</a>] [<a href="https://doi.org/10.1038/ng1119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12612583">Robertson et al. (2003)</a> that Melnick-Needles syndrome is caused by gain-of-function mutations in the gene encoding filamin A (FLNA; <a href="/entry/300017">300017</a>). Mutations in the FLNA gene were found in 12 presumably unrelated patients with Melnick-Needles syndrome, all female. All had mutations in exon 22 of the gene. One mutation was found in 6 individuals, a second mutation in 5, and a third mutation in a single case. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12612583" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Robertson, S. P., Thompson, S., Morgan, T., Holder-Espinasse, M., Martinot-Duquenoy, V., Wilkie, A. O. M., Manouvrier-Hanu, S. <strong>Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.</strong> Europ. J. Hum. Genet. 14: 549-554, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16538226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16538226</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201586" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16538226">Robertson et al. (2006)</a> identified a mutation in the FLNA gene (<a href="/entry/300017#0013">300017.0013</a>) in a girl with Melnick-Needles syndrome. The girl had an unaffected twin sister who did not carry the mutation; the unaffected mother also did not carry the mutation. The twins were born with separate amniotic sacs within a single chorion, and zygosity analysis indicated a high probability that the girls were monozygotic twins. <a href="#17" class="mim-tip-reference" title="Robertson, S. P., Thompson, S., Morgan, T., Holder-Espinasse, M., Martinot-Duquenoy, V., Wilkie, A. O. M., Manouvrier-Hanu, S. <strong>Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.</strong> Europ. J. Hum. Genet. 14: 549-554, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16538226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16538226</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201586" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16538226">Robertson et al. (2006)</a> concluded that the FLNA mutation occurred postzygotically in the affected twin and emphasized the importance of the finding for genetic counseling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16538226" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Gorlin1978" class="mim-tip-reference" title="Gorlin, R. J., Langer, L. O., Jr. <strong>Melnick-Needles syndrome: radiographic alterations in the mandible.</strong> Radiology 128: 351-353, 1978.">Gorlin and Langer (1978)</a>; <a href="#Maroteaux1968" class="mim-tip-reference" title="Maroteaux, P., Chouraki, L., Coste, F. <strong>L'osteodysplastie (syndrome de Melnick et de Needles).</strong> Presse Med. 76: 715-718, 1968.">Maroteaux et al. (1968)</a>; <a href="#Robertson2007" class="mim-tip-reference" title="Robertson, S. P. <strong>Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.</strong> Europ. J. Hum. Genet. 15: 3-9, 2007.">Robertson (2007)</a>; <a href="#Sellars1978" class="mim-tip-reference" title="Sellars, S. L., Beighton, P. H. <strong>Deafness in osteodysplasty of Melnick and Needles.</strong> Arch. Otolaryng. 104: 225-227, 1978.">Sellars and Beighton (1978)</a>; <a href="#Theodorou1982" class="mim-tip-reference" title="Theodorou, S. D., Ierodiaconou, M. N., Gerostathopoulos, N., Grivas, T. <strong>Osteodysplasty (Melnick-Needles syndrome) in a male.In: Papadatos, C. J.; Bartsocas, C. S. : Skeletal Dysplasias.</strong> New York: Alan R. Liss (pub.) 1982. Pp. 139-142.">Theodorou et al. (1982)</a>
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J. Med. Genet. 17: 53-56, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7189217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7189217</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7189217" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Osteodysplasty (Melnick and Needles' syndrome): report of a case.</strong>
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Ann. Rheum. Dis. 27: 360-366, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5666677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5666677</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5666677" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/ard.27.4.360" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320270117" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320290319" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320130417" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1148/128.2.351" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320270116" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.10245" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.2214/ajr.97.1.39" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.gde.2005.04.001" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5201654" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5201586" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng1119" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archotol.1978.00790040047009" target="_blank">Full Text</a>]
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<a id="23" class="mim-anchor"></a>
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<a id="Theodorou1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Theodorou, S. D., Ierodiaconou, M. N., Gerostathopoulos, N., Grivas, T.
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<strong>Osteodysplasty (Melnick-Needles syndrome) in a male.In: Papadatos, C. J.; Bartsocas, C. S. : Skeletal Dysplasias.</strong>
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New York: Alan R. Liss (pub.) 1982. Pp. 139-142.
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<a id="van der Lely1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van der Lely, H., Robben, S. G. F., Meradji, M., Derksen-Lubsen, G.
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<strong>Melnick-Needles syndrome (osteodysplasty) in an older male--report of a case and a review of the literature.</strong>
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Brit. J. Radiol. 64: 852-854, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1913051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1913051</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1913051" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1259/0007-1285-64-765-852" target="_blank">Full Text</a>]
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<a id="25" class="mim-anchor"></a>
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<a id="Verloes2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Verloes, A., Lesenfants, S., Barr, M., Grange, D. K., Journel, H., Lombet, J., Mortier, G., Roeder, E.
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<strong>Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.</strong>
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Am. J. Med. Genet. 90: 407-422, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10706363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10706363</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10706363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(20000228)90:5<407::aid-ajmg11>3.0.co;2-d" target="_blank">Full Text</a>]
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<a id="26" class="mim-anchor"></a>
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<a id="von Oeyen1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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von Oeyen, P., Holmes, L. B., Trelstad, R. L., Griscom, N. T. H.
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<strong>Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome).</strong>
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Am. J. Med. Genet. 13: 453-463, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7158644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7158644</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7158644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320130416" target="_blank">Full Text</a>]
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<a id="27" class="mim-anchor"></a>
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<a id="von Oeyen1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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von Oeyen, P. T., Holmes, L. B., Trelstad, R. L., Griscom, N. T.
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<strong>Melnick-Needles syndrome with omphalocele and renal hypoplasia. (Abstract)</strong>
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Am. J. Hum. Genet. 33: 92A only, 1981.
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<a id="28" class="mim-anchor"></a>
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<a id="Wettke-Schafer1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wettke-Schafer, R., Kantner, G.
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<strong>X-linked dominant inherited diseases with lethality in hemizygous males.</strong>
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Hum. Genet. 64: 1-23, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6873941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6873941</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6873941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00289472" target="_blank">Full Text</a>]
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</p>
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<a id="29" class="mim-anchor"></a>
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<a id="Zackai1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zackai, E. H., Donnenfeld, A. E., Conard, K. A., Roberts, N. S., Borns, P. F.
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<strong>The male Melnick-Needles syndrome phenotype. (Abstract)</strong>
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Am. J. Hum. Genet. 39: A88 only, 1986.
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<br />
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini - updated : 7/28/2009
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 6/2/2006<br>Victor A. McKusick - updated : 3/19/2003<br>Cassandra L. Kniffin - reorganized : 5/1/2002<br>Sonja A. Rasmussen - updated : 4/18/2002<br>Iosif W. Lurie - updated : 9/22/1996
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 10/14/2015
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 9/22/2015<br>mcolton : 3/4/2015<br>carol : 7/28/2009<br>wwang : 6/5/2006<br>ckniffin : 6/2/2006<br>alopez : 5/12/2004<br>carol : 4/6/2004<br>alopez : 4/2/2003<br>alopez : 3/21/2003<br>terry : 3/19/2003<br>carol : 5/1/2002<br>carol : 5/1/2002<br>ckniffin : 4/30/2002<br>carol : 4/19/2002<br>terry : 4/18/2002<br>carol : 9/22/1996<br>terry : 4/20/1994<br>mimadm : 2/27/1994<br>carol : 6/3/1993<br>supermim : 3/17/1992<br>carol : 3/7/1992<br>carol : 10/28/1991
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<span class="mim-font">
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<strong>#</strong> 309350
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<h3>
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MELNICK-NEEDLES SYNDROME; MNS
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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MELNICK-NEEDLES OSTEODYSPLASTY<br />
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OSTEODYSPLASTY OF MELNICK AND NEEDLES
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 13449007;
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<strong>ORPHA:</strong> 2484;
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<strong>DO:</strong> 0111788;
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<strong>Phenotype-Gene Relationships</strong>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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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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<span class="mim-font">
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Xq28
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</span>
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<span class="mim-font">
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Melnick-Needles syndrome
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<span class="mim-font">
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309350
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<span class="mim-font">
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X-linked dominant
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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FLNA
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<span class="mim-font">
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300017
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because Melnick-Needles syndrome (MNS) is caused by mutation in the FLNA gene (300017) on chromosome Xq28.</p>
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<span class="mim-font">
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Melnick-Needles syndrome is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. These disorders, including frontometaphyseal dysplasia (FMD; 305620), otopalatodigital syndrome-1 (OPD1; 311300), and otopalatodigital syndrome-2 (OPD2; 304120), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD is characterized by a generalized skeletal dysplasia, deafness and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by Robertson, 2005). Verloes et al. (2000) suggested that these disorders constitute a single entity, which they called 'fronto-otopalatodigital osteodysplasia.' </p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>Melnick and Needles (1966) described families that contained multiple cases in multiple generations of a severe congenital bone disorder characterized by typical facies (exophthalmos, full cheeks, micrognathia and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of bones of legs, irregular constrictions in the ribs, and sclerosis of base of skull. Male-to-male transmission was thought to have occurred in 1 instance. Ureteral obstruction was observed in the original case (Melnick and Needles, 1966) and in several others reported. </p><p>'Osteodysplasty' was the term suggested by Coste et al. (1968), who described an affected 58-year-old woman. Bone disease was recognized in infancy when she began to walk. Normal childbirth was impossible because of contracted pelvis. Osteoarthritis of the lumbar spine and hips gave much pain. Her height was normal. Striking facies comprised frog-like eyes, high forehead, full red cheeks, and receding chin. X-rays showed curved long bones, tortuous ribboned ribs, and deformed clavicles, scapula, and pelvis. </p><p>Beighton and Hamersma (1980) speculated that frontometaphyseal dysplasia and osteodysplasty (MNS) may be due to the same gene. They suggested that the gene may be X-linked and that the former condition is the usual phenotype in hemizygous males and the latter condition the usual phenotype in heterozygous females. They pointed out that the manifestations in Melnick and Needles' 2 kindreds (13 affected persons; 9 females, 4 males) were highly variable. Apart from one doubtful instance, no male-to-male transmission was reported. </p><p>Features emphasized by Kozlowski (1993) on the basis of 9 cases included small, deformed chest, large anterior fontanel associated with prominent forehead, and high vertebrae. One of his patients was diagnosed at the age of 37 years. All were female.</p><p>Kristiansen et al. (2002) reported 2 severely affected girls with Melnick-Needles syndrome and their mildly affected mother. They analyzed the X-chromosome inactivation pattern in this family to determine if it was related to the variable phenotype. A very skewed inactivation pattern was observed in the blood from both the mildly affected mother and one of her daughters, whereas a highly skewed inactivation pattern in buccal smear DNA was observed in the mother only. X inactivation, therefore, did not explain the variable phenotype in this family. </p><p><strong><em>Males Born to Affected Mothers</em></strong></p><p>
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Von Oeyen et al. (1981) observed an affected woman whose son, who died soon after birth, was also affected. The son had omphalocele and hypoplastic kidneys. Von Oeyen et al. (1982) reported a severely affected male with multiple congenital anomalies who was born of an affected mother and died soon after birth. A similar case was reported by Theander and Ekberg (1981). Zackai et al. (1986) and Donnenfeld et al. (1987) described a lethally affected male fetus identified prenatally in a woman with oligohydramnios and MNS. The condition was detected sonographically at 16 weeks' gestation. Autopsy on the electively aborted fetus showed exophthalmos, prune belly sequence with urethral atresia and megacystis, tetralogy of Fallot, atrioventricular canal defect, and complete malrotation of the gut. Krajewska-Walasek et al. (1987) found 6 examples of this syndrome in males: there were 3 well-documented lethal examples of the disorder among the offspring of affected females and 3 examples in males born to normal parents and presumably representing new mutations. One of the patients described in detail died of pneumonia at age 3 after having repeated bouts of pneumonia. </p><p>Van der Lely et al. (1991) described typical features in an 11-year-old black male who was the sixth of 8 children of healthy, unrelated parents. He may be the oldest surviving male with this disorder. </p><p>Neou et al. (1996) described a mother with Melnick-Needles syndrome whose son had partial manifestations of the syndrome. His facial features were similar to those of his mother. He was not short, but was mentally retarded. His radiologic examination showed sclerotic skull base, ribbon-like flaring of ribs, short bowed clavicles, small pelvis with thin iliac crest, and moderate flaring of the distal part of the long bones. In addition, he had atrial septal defect, pulmonic stenosis, intestinal malrotation, and ectopic kidney. Neou et al. (1996) proposed that Melnick-Needles syndrome is not always lethal in males born to affected mothers. </p><p>Verloes et al. (2000) reported a mild case of OPD2, a severe case of OPD2 with anomalies of the central nervous system and some manifestations of frontometaphyseal dysplasia, a lethal case of OPD2 with similarities to Melnick-Needles syndrome, and 3 unrelated boys born to mothers with MNS (1 with a severe form, 1 with a lethal form, and an aborted fetus). They reviewed the features in these disorders and in OPD1 and suggested that these disorders constitute a single entity. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Melnick-Needles syndrome is an X-linked dominant disorder. Most cases described are in females. Nyhan and Sakati (1976) described a family with 4 affected females in 3 successive generations. Von Oeyen et al. (1982) found a sex ratio of 21 females and 3 males in reported cases. Melnick (1982) studied 4 additional families in the United States; in two, 3 generations were affected and in the other two, 2 generations. The Melnick-Needles syndrome had been assumed to be an autosomal dominant disorder. However, Gorlin and Knier (1982) analyzed reported families with restudy of some. Melnick had reexamined the male 'cases' in the kindred he reported in 1966 and found them in fact to be normal. In all, Gorlin and Knier (1982) found 23 patients in 15 pedigrees. Most cases were sporadic and may represent new mutations. In only 3 pedigrees was there transmission from one generation to the next, always female to female. </p><p>Ter Haar et al. (1982) suggested autosomal recessive inheritance on the basis of a kindred with an affected brother and sister and their affected fourth cousin. This disorder was later characterized as a distinct entity and named Frank-ter Haar syndrome (249420). </p><p>See also review by Wettke-Schafer and Kantner (1983). </p>
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</span>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Pathogenesis</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Svejcar (1983) found an increased content of collagen; the sclerosing bone process may be an expression thereof. Fryns et al. (1988) emphasized hyperlaxity of skin and joints as suggesting that this condition is a generalized connective tissue disorder. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>X-linked inheritance is established by the demonstration of Robertson et al. (2003) that Melnick-Needles syndrome is caused by gain-of-function mutations in the gene encoding filamin A (FLNA; 300017). Mutations in the FLNA gene were found in 12 presumably unrelated patients with Melnick-Needles syndrome, all female. All had mutations in exon 22 of the gene. One mutation was found in 6 individuals, a second mutation in 5, and a third mutation in a single case. </p><p>Robertson et al. (2006) identified a mutation in the FLNA gene (300017.0013) in a girl with Melnick-Needles syndrome. The girl had an unaffected twin sister who did not carry the mutation; the unaffected mother also did not carry the mutation. The twins were born with separate amniotic sacs within a single chorion, and zygosity analysis indicated a high probability that the girls were monozygotic twins. Robertson et al. (2006) concluded that the FLNA mutation occurred postzygotically in the affected twin and emphasized the importance of the finding for genetic counseling. </p>
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</span>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Gorlin and Langer (1978); Maroteaux et al. (1968); Robertson (2007);
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Sellars and Beighton (1978); Theodorou et al. (1982)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Beighton, P., Hamersma, H.
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<strong>Frontometaphyseal dysplasia: autosomal dominant or X-linked?</strong>
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J. Med. Genet. 17: 53-56, 1980.
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[Full Text: https://doi.org/10.1136/jmg.17.1.53]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Coste, F., Maroteaux, P., Chouraki, L.
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<strong>Osteodysplasty (Melnick and Needles' syndrome): report of a case.</strong>
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Ann. Rheum. Dis. 27: 360-366, 1968.
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[Full Text: https://doi.org/10.1136/ard.27.4.360]
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<p class="mim-text-font">
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Donnenfeld, A. E., Conard, K. A., Roberts, N. S., Borns, P. F., Zackai, E. H.
|
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<strong>Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome.</strong>
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Am. J. Med. Genet. 27: 159-173, 1987.
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[PubMed: 3605194]
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Fryns, J. P., Schinzel, A., Van den Berghe, H.
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<strong>Hyperlaxity in males with Melnick-Needles syndrome.</strong>
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Am. J. Med. Genet. 29: 607-611, 1988.
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[PubMed: 3377003]
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[Full Text: https://doi.org/10.1002/ajmg.1320290319]
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</p>
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</li>
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<p class="mim-text-font">
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Gorlin, R. J., Knier, J.
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<strong>X-linked or autosomal dominant, lethal in the male, inheritance of the Melnick-Needles (osteodysplasty) syndrome? A reappraisal. (Letter)</strong>
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Am. J. Med. Genet. 13: 465-467, 1982.
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[PubMed: 7158645]
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[Full Text: https://doi.org/10.1002/ajmg.1320130417]
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</p>
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<p class="mim-text-font">
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Gorlin, R. J., Langer, L. O., Jr.
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<strong>Melnick-Needles syndrome: radiographic alterations in the mandible.</strong>
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Radiology 128: 351-353, 1978.
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[PubMed: 663242]
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[Full Text: https://doi.org/10.1148/128.2.351]
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</p>
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<p class="mim-text-font">
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Kozlowski, K.
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<strong>Personal Communication.</strong>
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Sydney, Australia 5/29/1993.
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<p class="mim-text-font">
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Krajewska-Walasek, M., Winkielman, J., Gorlin, R. J.
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<strong>Melnick-Needles syndrome in males.</strong>
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Am. J. Med. Genet. 27: 153-158, 1987.
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[PubMed: 3605193]
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[Full Text: https://doi.org/10.1002/ajmg.1320270116]
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Kristiansen, M., Knudsen, G. P., Soyland, A., Westvik, J., Orstavik, K. H.
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<strong>Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear.</strong>
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Am. J. Med. Genet. 108: 120-127, 2002.
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[PubMed: 11857561]
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[Full Text: https://doi.org/10.1002/ajmg.10245]
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Maroteaux, P., Chouraki, L., Coste, F.
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<strong>L'osteodysplastie (syndrome de Melnick et de Needles).</strong>
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Presse Med. 76: 715-718, 1968.
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[PubMed: 5642274]
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Melnick, J. C.
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<strong>Osteodysplasty (Melnick and Needles syndrome).In: Papadatos, C. J.; Bartsocas, C. S. (eds.) : Skeletal Dysplasias.</strong>
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New York: Alan R. Liss (pub.) 1982. Pp. 133-137.
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<strong>An undiagnosed bone dysplasia: a two family study of 4 generations and 3 generations.</strong>
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Am. J. Roentgen. Radium Ther. Nucl. Med. 97: 39-48, 1966.
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[PubMed: 5938049]
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Neou, P., Kyrkanides, S., Gioureli, E., Bartsocas, C. S.
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<strong>Melnick-Needles syndrome in a mother and her son.</strong>
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Genet. Counsel. 7: 123-129, 1996.
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[PubMed: 8831131]
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Nyhan, W. L., Sakati, N. O.
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<strong>Genetic and Malformation Syndromes in Clinical Medicine.</strong>
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Chicago: Year Book Med. Publ. (pub.) 1976. Pp. 427-429.
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Robertson, S. P.
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Robertson, S. P.
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Robertson, S. P., Thompson, S., Morgan, T., Holder-Espinasse, M., Martinot-Duquenoy, V., Wilkie, A. O. M., Manouvrier-Hanu, S.
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<strong>Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.</strong>
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<strong>Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.</strong>
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Svejcar, J.
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<strong>Biochemical abnormalities in connective tissue of osteodysplasty of Melnick-Needles and dyssegmental dwarfism.</strong>
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Clin. Genet. 23: 369-375, 1983.
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ter Haar, B., Hamel, B., Hendriks, J., de Jager, J.
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<strong>Melnick-Needles syndrome: indication for an autosomal recessive form.</strong>
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Am. J. Med. Genet. 13: 469-477, 1982.
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[PubMed: 7158646]
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<p class="mim-text-font">
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Theander, G., Ekberg, O.
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<strong>Congenital malformations associated with maternal osteodysplasty.</strong>
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Acta Radiol. Diagn. 22: 369-377, 1981.
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<p class="mim-text-font">
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Theodorou, S. D., Ierodiaconou, M. N., Gerostathopoulos, N., Grivas, T.
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<strong>Osteodysplasty (Melnick-Needles syndrome) in a male.In: Papadatos, C. J.; Bartsocas, C. S. : Skeletal Dysplasias.</strong>
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New York: Alan R. Liss (pub.) 1982. Pp. 139-142.
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</p>
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<li>
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<p class="mim-text-font">
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van der Lely, H., Robben, S. G. F., Meradji, M., Derksen-Lubsen, G.
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<strong>Melnick-Needles syndrome (osteodysplasty) in an older male--report of a case and a review of the literature.</strong>
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Brit. J. Radiol. 64: 852-854, 1991.
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[PubMed: 1913051]
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[Full Text: https://doi.org/10.1259/0007-1285-64-765-852]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Verloes, A., Lesenfants, S., Barr, M., Grange, D. K., Journel, H., Lombet, J., Mortier, G., Roeder, E.
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<strong>Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.</strong>
|
|
Am. J. Med. Genet. 90: 407-422, 2000.
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|
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[PubMed: 10706363]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(20000228)90:5<407::aid-ajmg11>3.0.co;2-d]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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von Oeyen, P., Holmes, L. B., Trelstad, R. L., Griscom, N. T. H.
|
|
<strong>Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome).</strong>
|
|
Am. J. Med. Genet. 13: 453-463, 1982.
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|
[PubMed: 7158644]
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[Full Text: https://doi.org/10.1002/ajmg.1320130416]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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von Oeyen, P. T., Holmes, L. B., Trelstad, R. L., Griscom, N. T.
|
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<strong>Melnick-Needles syndrome with omphalocele and renal hypoplasia. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 33: 92A only, 1981.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Wettke-Schafer, R., Kantner, G.
|
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<strong>X-linked dominant inherited diseases with lethality in hemizygous males.</strong>
|
|
Hum. Genet. 64: 1-23, 1983.
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[PubMed: 6873941]
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[Full Text: https://doi.org/10.1007/BF00289472]
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Zackai, E. H., Donnenfeld, A. E., Conard, K. A., Roberts, N. S., Borns, P. F.
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<strong>The male Melnick-Needles syndrome phenotype. (Abstract)</strong>
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Am. J. Hum. Genet. 39: A88 only, 1986.
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</p>
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Carol A. Bocchini - updated : 7/28/2009<br>Cassandra L. Kniffin - updated : 6/2/2006<br>Victor A. McKusick - updated : 3/19/2003<br>Cassandra L. Kniffin - reorganized : 5/1/2002<br>Sonja A. Rasmussen - updated : 4/18/2002<br>Iosif W. Lurie - updated : 9/22/1996
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Victor A. McKusick : 6/4/1986
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