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<title>
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Entry
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- #601321 - NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS
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- OMIM
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<span class="h4">#601321</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/601321"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=(NEUROFIBROMATOSIS-NOONAN SYNDROME) OR (NF1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=930&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/5181" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601321[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=638" 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/fa22f74e-ae72-4945-aa4f-7fd8d91bef03/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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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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-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:0111683" 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/601321" 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>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 715344006<br />
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<strong>ORPHA:</strong> 638<br />
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<strong>DO:</strong> 0111683<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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601321
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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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NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
|
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
|
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
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NOONAN-NEUROFIBROMATOSIS SYNDROME<br />
|
|
NEUROFIBROMATOSIS WITH NOONAN PHENOTYPE
|
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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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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/17/380?start=-3&limit=10&highlight=380">
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17q11.2
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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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Neurofibromatosis-Noonan 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/601321"> 601321 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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NF1
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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/613113"> 613113 </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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<div class="btn-group ">
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<a href="/clinicalSynopsis/601321" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/601321" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/601321" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
|
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</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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<span class="h5 mim-font">
|
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<strong> GROWTH </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Height </em>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
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- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
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</div>
|
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Macrocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12138000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12138000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1145403003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1145403003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221355</a>, <a href="https://bioportal.bioontology.org/search?q=C2243051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2243051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001355</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Macrocephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" 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>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Midface hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853242&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853242</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011800</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011800</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=f0adae8ae2dc0ad9ed28c3c3e0e8f8a9" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Midface_Retrusion-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=f0adae8ae2dc0ad9ed28c3c3e0e8f8a9" 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 nasolabial folds <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866487&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866487</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005272</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">
|
|
|
|
- Low-set ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95515009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95515009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239234&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239234</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Ear,Low-Set-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931" 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 /> -
|
|
Posteriorly rotated ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253251006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253251006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431478&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431478</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000358" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000358</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000358" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000358</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="<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 /> -
|
|
Downslanting palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246800008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246800008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423110&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423110</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span><br /> -
|
|
Ptosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11934000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11934000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29696001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29696001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.409</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.3</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/374.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005745</a>, <a href="https://bioportal.bioontology.org/search?q=C0033377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Ptosis-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" 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 /> -
|
|
Epicanthal folds <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74824007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74824007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0678230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0678230</a>, <a href="https://bioportal.bioontology.org/search?q=C0229249&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0229249</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span><br /> -
|
|
Lisch nodules <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860334&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860334</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009737" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009737</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009737" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009737</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> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- Low nasal root <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836542&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836542</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</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> Neck </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Webbed neck <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11731003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11731003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q18.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q18.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/744.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">744.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221217&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221217</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000465" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000465</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000465" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000465</a>]</span><br /> -
|
|
Short neck <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95427009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95427009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521525&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521525</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Neck,Short-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531" 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 /> -
|
|
Webbed neck <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11731003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11731003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q18.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q18.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/744.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">744.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221217&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221217</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000465" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000465</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000465" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000465</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
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|
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|
|
<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">
|
|
|
|
- Pulmonic stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56786000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56786000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1956257&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1956257</a>, <a href="https://bioportal.bioontology.org/search?q=C0034089&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034089</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001642" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001642</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001642" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001642</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
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|
|
|
</div>
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|
|
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|
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|
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|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ribs Sternum Clavicles & Scapulae </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pectus carinatum superiorly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864795&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864795</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000917" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000917</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000917" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000917</a>]</span><br /> -
|
|
Pectus excavatum inferiorly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864796&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864796</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000915" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000915</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000915" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000915</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
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|
|
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|
|
</div>
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|
|
</div>
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Internal Genitalia (Male) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cryptorchidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204878001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204878001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q53.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q53.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010417</a>, <a href="https://bioportal.bioontology.org/search?q=C5441920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441920</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</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> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br />
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</span>
|
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</div>
|
|
</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cubitus valgus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54583007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54583007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70123009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70123009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.01</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265611&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265611</a>, <a href="https://bioportal.bioontology.org/search?q=C0158465&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158465</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002967" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002967</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002967" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002967</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
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|
|
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|
|
</div>
|
|
|
|
</div>
|
|
|
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|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cafe-au-lait spots <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/201281002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">201281002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L81.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L81.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221263&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221263</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000957</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000957</a>]</span><br /> -
|
|
Axillary freckling <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860335&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860335</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000997" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000997</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000997" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000997</a>]</span><br /> -
|
|
Inguinal freckling <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834297&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834297</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030052" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030052</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030052" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030052</a>]</span><br /> -
|
|
Neurofibromas <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/404029005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">404029005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156930004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156930004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027830&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027830</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001067" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001067</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hair </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Low posterior hairline <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855728&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855728</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002162" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002162</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002162" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002162</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7d997573ca589e086a27f00c475ce630" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Hairline,Low_Posterior-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7d997573ca589e086a27f00c475ce630" 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 /> -
|
|
Frontal upsweep of the hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1185616&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1185616</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002236</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Speech delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229721007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229721007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241210&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241210</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span><br /> -
|
|
Articulation defects <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70056008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70056008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0454633&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0454633</a>]</span><br /> -
|
|
Developmental delay, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848735&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848735</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248290002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248290002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
|
|
Unidentified bright objects seen on brain MRI <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4538857&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4538857</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEOPLASIA </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Optic glioma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254976006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254976006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0346326&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0346326</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009734</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009734</a>]</span><br /> -
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- Phenotypic overlap between neurofibromatosis type 1 (<a href="/entry/162200">162200</a>) and Noonan syndrome (<a href="/entry/163950">163950</a>)<br />
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- Caused by mutation in the neurofibromin gene (NF1, <a href="/entry/613113#0033">613113.0033</a>)<br />
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<p>A number sign (#) is used with this entry because of evidence that some cases of neurofibromatosis-Noonan syndrome are caused by heterozygous mutation in the neurofibromin gene (NF1; <a href="/entry/613113">613113</a>) on chromosome 17q11.</p><p>Allelic disorders include classic neurofibromatosis type I (<a href="/entry/162200">162200</a>) and Watson syndrome (<a href="/entry/193520">193520</a>).</p>
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<p><a href="#3" class="mim-tip-reference" title="Allanson, J. E., Hall, J. G., Van Allen, M. I. <strong>Noonan phenotype associated with neurofibromatosis.</strong> Am. J. Med. Genet. 21: 457-462, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2411134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2411134</a>] [<a href="https://doi.org/10.1002/ajmg.1320210307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2411134">Allanson et al. (1985)</a> reported 4 unrelated patients with neurofibromatosis who had manifestations of Noonan syndrome (<a href="/entry/163950">163950</a>), including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness. Family history was negative in each case. Average paternal and maternal ages were 37 and 28 years, respectively, at the birth of the patients, suggesting new dominant mutation. The chromosomes, including prometaphase preparations in 3 of the 4, were normal. The authors suggested that this is a distinct entity. <a href="#15" class="mim-tip-reference" title="Opitz, J. M., Weaver, D. D. <strong>The neurofibromatosis-Noonan syndrome.</strong> Am. J. Med. Genet. 21: 477-490, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3927726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3927726</a>] [<a href="https://doi.org/10.1002/ajmg.1320210310" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3927726">Opitz and Weaver (1985)</a> likewise favored the distinctness of what they called the neurofibromatosis-Noonan syndrome. They suggested that males are more likely to have fusiform swelling of nerve strands, while females more often show the classic neurofibromata seen in von Recklinghausen disease (NF1). Lisch nodules of the iris were uncommon, whereas there was a strong tendency to develop retroperitoneal or visceral (ganglio-) neurofibromatosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3927726+2411134" 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="Abuelo, D. N., Meryash, D. L. <strong>Neurofibromatosis with fully expressed Noonan syndrome.</strong> Am. J. Med. Genet. 29: 937-941, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3135755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3135755</a>] [<a href="https://doi.org/10.1002/ajmg.1320290426" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3135755">Abuelo and Meryash (1988)</a> described an 18-year-old man with neurofibromatosis and classic manifestations of Noonan syndrome, including atrial septal defect of the secundum type and valvular and supravalvular pulmonic stenosis, for which cardiac surgery was performed. The father also had neurofibromatosis and was described by the authors as having 'some of the characteristics of Noonan syndrome,' which were only 'prominent nasolabial folds and apparently low-set ears.' The authors suggested several possibilities to explain the combination of features: (1) a mutation at a locus different from that of NF1 on chromosome 17; (2) an allele at the NF1 locus; (3) a coincidence of 2 relatively frequent conditions; or (4) associated disorders due to mutations at closely linked loci. In connection with the last possibility, it is of note that <a href="#1" class="mim-tip-reference" title="Abuelo, D. N., Meryash, D. L. <strong>Neurofibromatosis with fully expressed Noonan syndrome.</strong> Am. J. Med. Genet. 29: 937-941, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3135755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3135755</a>] [<a href="https://doi.org/10.1002/ajmg.1320290426" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3135755">Abuelo and Meryash (1988)</a> found no abnormality in the prophase chromosome analysis, performed with special attention to chromosome 17, in their propositus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3135755" 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="Meinecke, P. <strong>Evidence that the neurofibromatosis-Noonan syndrome is a variant of von Recklinghausen neurofibromatosis.</strong> Am. J. Med. Genet. 26: 741-745, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3105316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3105316</a>] [<a href="https://doi.org/10.1002/ajmg.1320260331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3105316">Meinecke (1987)</a> and <a href="#16" class="mim-tip-reference" title="Quattrin, T., McPherson, E., Putnam, T. <strong>Vertical transmission of the neurofibromatosis/Noonan syndrome.</strong> Am. J. Med. Genet. 26: 645-649, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3105315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3105315</a>] [<a href="https://doi.org/10.1002/ajmg.1320260320" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3105315">Quattrin et al. (1987)</a> concluded that it was uncertain whether neurofibromatosis with Noonan syndrome-like features was a distinct entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3105316+3105315" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Ahlbom, B. E., Dahl, N., Zetterqvist, P., Anneren, G. <strong>Noonan syndrome with cafe-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus.</strong> Clin. Genet. 48: 85-89, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7586657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7586657</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1995.tb04061.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7586657">Ahlbom et al. (1995)</a> reported a family in which 4 individuals spanning 2 generations had Noonan syndrome and cafe-au-lait spots. Dysmorphic features included hypertelorism, epicanthal folds, downslanting palpebral fissures, high peaks of the upper vermilion border, and low-set ears. They also had pulmonary stenosis, cardiac conduction defect, short stature, short neck, and widely spaced nipples. Intelligence was normal. <a href="#14" class="mim-tip-reference" title="Nystrom, A. M., Ekvall, S., Allanson, J., Edeby, C., Elinder, M., Holmstrom, G., Bondeson, M. L., Anneren, G. <strong>Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.</strong> Clin. Genet. 76: 524-534, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19845691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19845691</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01233.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19845691">Nystrom et al. (2009)</a> reported follow-up of the family reported by <a href="#2" class="mim-tip-reference" title="Ahlbom, B. E., Dahl, N., Zetterqvist, P., Anneren, G. <strong>Noonan syndrome with cafe-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus.</strong> Clin. Genet. 48: 85-89, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7586657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7586657</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1995.tb04061.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7586657">Ahlbom et al. (1995)</a> and included additional affected family members. The Noonan syndrome facial phenotype was found in several family members but was less evident in others. All except 1 fulfilled the criteria for NF1, with cafe-au-lait spots, Lisch nodules, and axillary freckling. None had visible plexiform neurofibromas, but 2 had growing mandibles, suggestive of giant cell lesions. Upon reevaluation, <a href="#14" class="mim-tip-reference" title="Nystrom, A. M., Ekvall, S., Allanson, J., Edeby, C., Elinder, M., Holmstrom, G., Bondeson, M. L., Anneren, G. <strong>Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.</strong> Clin. Genet. 76: 524-534, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19845691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19845691</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01233.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19845691">Nystrom et al. (2009)</a> concluded that the phenotype in this family was consistent with NFNS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19845691+7586657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Colley, A., Donnai, D., Evans, D. G. R. <strong>Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis.</strong> Clin. Genet. 49: 59-64, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8740913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8740913</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1996.tb04328.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8740913">Colley et al. (1996)</a> examined 94 persons with neurofibromatosis for features of the Noonan syndrome and found that 12, including some familial cases, had diagnostic criteria of the Noonan syndrome. One of the families showed independent segregation of NF1 and Noonan syndrome; in other families, half of those affected with NF1 had manifestations of the Noonan syndrome. However, linkage of the Noonan syndrome gene to chromosome 12 (<a href="#11" class="mim-tip-reference" title="Jamieson, C. R., van der Burgt, I., Brady, A. F., van Reen, M., Elsawi, M. M., Hol, F., Jeffery, S., Patton, M. A., Mariman, E. <strong>Mapping a gene for Noonan syndrome to the long arm of chromosome 12.</strong> Nature Genet. 8: 357-360, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7894486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7894486</a>] [<a href="https://doi.org/10.1038/ng1294-357" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7894486">Jamieson et al., 1994</a>) suggested that the genes for NF1 and Noonan syndrome are neither allelic nor contiguous. <a href="#9" class="mim-tip-reference" title="Colley, A., Donnai, D., Evans, D. G. R. <strong>Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis.</strong> Clin. Genet. 49: 59-64, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8740913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8740913</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1996.tb04328.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8740913">Colley et al. (1996)</a> suggested that some alterations of the NF1 gene may predispose to the Noonan syndrome phenotype, but considered it unlikely that a neurofibromatosis-Noonan syndrome phenotype is a distinct disorder or occurs as part of classic Noonan syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8740913+7894486" 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>Bahuau et al. (<a href="#4" class="mim-tip-reference" title="Bahuau, M., Flintoff, W., Assouline, B., Lyonnet, S., Le Merrer, M., Prieur, M., Guilloud-Bataille, M., Feingold, N., Munnich, A., Vidaud, M., Vidaud, D. <strong>Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association.</strong> Am. J. Med. Genet. 66: 347-355, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8985499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8985499</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19961218)66:3<347::AID-AJMG20>3.0.CO;2-L" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8985499">1996</a>, <a href="#5" class="mim-tip-reference" title="Bahuau, M., Houdayer, C., Assouline, B., Blanchet-Bardon, C., Le Merrer, M., Lyonnet, S., Giraud, S., Recan, D., Lakhdar, H., Vidaud, M., Vidaud, D. <strong>Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome.</strong> Am. J. Med. Genet. 75: 265-272, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9475595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9475595</a>]" pmid="9475595">1998</a>) reported a 4-generation family in which 8 members had NF1/Noonan syndrome, 2 had NF1 only, and 2 had NS only. Linkage analysis showed tight linkage of the neurofibromatosis phenotype to the NF1 gene, whereas the Noonan phenotype was not linked to the NF1 gene. However, cosegregation of the 2 phenotypes suggested 2 genetically linked but distinct loci. Molecular analysis identified a heterozygous truncating mutation in the NF1 gene in all 10 patients with features of NF1, but not in the 2 patients with Noonan syndrome only. The findings suggested the presence of another locus for Noonan syndrome on 17q distinct from the NF1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9475595+8985499" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Klopfenstein, K. J., Sommer, A., Ruymann, F. B. <strong>Neurofibromatosis-Noonan syndrome and acute lymphoblastic leukemia: a report of two cases.</strong> J. Pediat. Hemat. Oncol. 21: 158-160, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10206464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10206464</a>] [<a href="https://doi.org/10.1097/00043426-199903000-00014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10206464">Klopfenstein et al. (1999)</a> reported 2 unrelated boys with neurofibromatosis-Noonan syndrome who developed acute lymphoblastic leukemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10206464" 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="Stevenson, D. A., Viskochil, D. H., Rope, A. F., Carey, J. C. <strong>Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.</strong> Clin. Genet. 69: 246-253, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16542390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16542390</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16542390[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00576.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16542390">Stevenson et al. (2006)</a> provided follow-up on the family reported by <a href="#8" class="mim-tip-reference" title="Carey, J. C., Stevenson, D. A., Ota, M., Neil, S., Viskochil, D. H. <strong>Is there an NF/Noonan syndrome: Part 2. Documentation of the clinical and molecular aspects of an important family. (Abstract)</strong> Proc. Greenwood Genet. Center 17: 152-153, 1997."None>Carey et al. (1997)</a> in which a mother and 4 of 5 offspring had NFNS. All 5 patients had multiple cafe-au-lait spots and relative macrocephaly consistent with NF1. None had neurofibromas. Variable features of Noonan syndrome included short stature (in 3 of 5 patients), speech delay (3), ptosis (5), downslanted palpebral fissures (2), telecanthus (3), malar hypoplasia (3), posteriorly angulated ears (4), broad neck (4), pectus anomaly (4), and pulmonic stenosis (3). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16542390" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of NFNS in 3 families reported by <a href="#6" class="mim-tip-reference" title="Baralle, D., Mattocks, C., Kalidas, K., Elmslie, F., Whittaker, J., Lees, M., Ragge, N., Patton, M. A., Winter, R. M., ffrench-Constant, C. <strong>Different mutations in the NF1 gene are associated with neurofibromatosis-Noonan syndrome (NFNS).</strong> Am. J. Med. Genet. 119A: 1-8, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12707950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12707950</a>] [<a href="https://doi.org/10.1002/ajmg.a.20023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12707950">Baralle et al. (2003)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12707950" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The heterozygous mutations in the NF1 gene that were identified in 4 patients with NFNS by <a href="#6" class="mim-tip-reference" title="Baralle, D., Mattocks, C., Kalidas, K., Elmslie, F., Whittaker, J., Lees, M., Ragge, N., Patton, M. A., Winter, R. M., ffrench-Constant, C. <strong>Different mutations in the NF1 gene are associated with neurofibromatosis-Noonan syndrome (NFNS).</strong> Am. J. Med. Genet. 119A: 1-8, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12707950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12707950</a>] [<a href="https://doi.org/10.1002/ajmg.a.20023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12707950">Baralle et al. (2003)</a> occurred de novo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12707950" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of a family with NFNS, <a href="#8" class="mim-tip-reference" title="Carey, J. C., Stevenson, D. A., Ota, M., Neil, S., Viskochil, D. H. <strong>Is there an NF/Noonan syndrome: Part 2. Documentation of the clinical and molecular aspects of an important family. (Abstract)</strong> Proc. Greenwood Genet. Center 17: 152-153, 1997."None>Carey et al. (1997)</a> identified a 3-bp deletion in exon 17 of the NF1 gene (<a href="/entry/162200#0033">162200.0033</a>).</p><p><a href="#6" class="mim-tip-reference" title="Baralle, D., Mattocks, C., Kalidas, K., Elmslie, F., Whittaker, J., Lees, M., Ragge, N., Patton, M. A., Winter, R. M., ffrench-Constant, C. <strong>Different mutations in the NF1 gene are associated with neurofibromatosis-Noonan syndrome (NFNS).</strong> Am. J. Med. Genet. 119A: 1-8, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12707950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12707950</a>] [<a href="https://doi.org/10.1002/ajmg.a.20023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12707950">Baralle et al. (2003)</a> used comparative sequence analysis to examine the NF1 gene in 6 patients with NFNS and identified mutations in 2: a 3-bp deletion in exon 25 (<a href="/entry/162200#0034">162200.0034</a>) in 1 and a 2-bp insertion in exon 23-2 (<a href="/entry/162200#0035">162200.0035</a>) in the other. The PTPN11 gene (<a href="/entry/176876">176876</a>), which had been recognized as the cause of more than 50% of Noonan syndrome cases, was also examined in 4 cases of NFNS, and no mutations were found. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12707950" 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>To answer the question of whether NFNS represents a variable manifestation of either NF1 or NS or is a distinct clinical entity, <a href="#10" class="mim-tip-reference" title="De Luca, A., Bottillo, I., Sarkozy, A., Carta, C., Neri, C., Bellacchio, E., Schirinzi, A., Conti, E., Zampino, G., Battaglia, A., Majore, S., Rinaldi, M. M., Carella, M., Marino, B., Pizzuti, A., Digilio, M. C., Tartaglia, M., Dallapiccola, B. <strong>NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.</strong> Am. J. Hum. Genet. 77: 1092-1101, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16380919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16380919</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16380919[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/498454" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16380919">De Luca et al. (2005)</a> screened a cohort with clinically well-characterized NFNS for mutations in the entire coding sequence of the NF1 and PTPN11 genes, which are responsible for classic neurofibromatosis and Noonan syndrome, respectively. Heterozygous NF1 defects were identified in 16 of the 17 unrelated subjects studied, thus providing evidence that mutations in NF1 represent the major molecular event underlying this condition. A particularly high prevalence of in-frame defects affecting exons 24 and 25, which encode a portion of the GAP-related domain of the protein, was observed. On the other hand, no defect in PTPN11 was observed and no lesion affecting exons 11 through 27 of the NF1 gene was identified in 100 PTPN11 mutation-negative subjects with NS, providing further evidence that NFNS and NS are genetically distinct disorders. These results supported the view that NFNS is a variant of NF1 and is caused by mutations of the NF1 gene, some of which have been demonstrated to cause classic NF1 in other individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16380919" 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="#10" class="mim-tip-reference" title="De Luca, A., Bottillo, I., Sarkozy, A., Carta, C., Neri, C., Bellacchio, E., Schirinzi, A., Conti, E., Zampino, G., Battaglia, A., Majore, S., Rinaldi, M. M., Carella, M., Marino, B., Pizzuti, A., Digilio, M. C., Tartaglia, M., Dallapiccola, B. <strong>NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.</strong> Am. J. Hum. Genet. 77: 1092-1101, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16380919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16380919</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16380919[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/498454" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16380919">De Luca et al. (2005)</a> pointed out that some of the mutations identified in patients with NFNS have also been reported in NF1 without any features suggestive of NS. From a molecular point of view, the clinical overlap between NFNS and NS is not surprising: the NF1 and PTPN11 gene products, neurofibromin and SHP2, elicit their modulatory role through a common pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16380919" 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>Although <a href="#2" class="mim-tip-reference" title="Ahlbom, B. E., Dahl, N., Zetterqvist, P., Anneren, G. <strong>Noonan syndrome with cafe-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus.</strong> Clin. Genet. 48: 85-89, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7586657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7586657</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1995.tb04061.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7586657">Ahlbom et al. (1995)</a> excluded linkage to the NF1 locus in a family with Noonan syndrome and cafe-au-lait spots, <a href="#14" class="mim-tip-reference" title="Nystrom, A. M., Ekvall, S., Allanson, J., Edeby, C., Elinder, M., Holmstrom, G., Bondeson, M. L., Anneren, G. <strong>Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.</strong> Clin. Genet. 76: 524-534, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19845691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19845691</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01233.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19845691">Nystrom et al. (2009)</a> used direct sequencing to identify a heterozygous NF1 mutation (L1390F; <a href="/entry/613113#0045">613113.0045</a>) in affected members of this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19845691+7586657" 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>Cooccurrence of NF1 And PTPN11 Mutations</em></strong></p><p>
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<a href="#7" class="mim-tip-reference" title="Bertola, D. R., Pereira, A. C., Passetti, F., de Oliveira, P. S., Messiaen, L., Gelb, B. D., Kim, C. A., Krieger, J. E. <strong>Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.</strong> Am. J. Med. Genet. 136A: 242-245, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15948193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15948193</a>] [<a href="https://doi.org/10.1002/ajmg.a.30813" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15948193">Bertola et al. (2005)</a> reported the occurrence of mutations in both NF1 (<a href="/entry/162200#0043">162200.0043</a>) and PTPN11 (<a href="/entry/176876#0023">176876.0023</a>) in a patient with neurofibromatosis type I and Noonan syndrome. This is probably a rare event accounting for a minority of these cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15948193" 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="#18" class="mim-tip-reference" title="Thiel, C., Wilken, M., Zenker, M., Sticht, H., Fahsold, R., Gusek-Schneider, G.-C., Rauch, A. <strong>Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.</strong> Am. J. Med. Genet. 149A: 1263-1267, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19449407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19449407</a>] [<a href="https://doi.org/10.1002/ajmg.a.32837" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19449407">Thiel et al. (2009)</a> reported another patient with features of both neurofibromatosis I and Noonan syndrome who had mutations in both the NF1 (<a href="/entry/162200#0044">162200.0044</a>) and PTPN11 (<a href="/entry/176876#0027">176876.0027</a>) genes. The PTPN11 mutation occurred de novo, and the NF1 mutation was inherited from the patient's mother, who had mild features of neurofibromatosis I, including the absence of optic gliomas. The proband developed bilateral optic gliomas before age 2 years, suggesting an additive effect of the 2 mutations on the Ras pathway. The proband also had short stature, delayed development, sternal abnormalities, and valvular pulmonary stenosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19449407" 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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Abuelo, D. N., Meryash, D. L.
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<strong>Neurofibromatosis with fully expressed Noonan syndrome.</strong>
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Am. J. Med. Genet. 29: 937-941, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3135755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3135755</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3135755" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Noonan syndrome with cafe-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus.</strong>
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Clin. Genet. 48: 85-89, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7586657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7586657</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7586657" 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/10.1111/j.1399-0004.1995.tb04061.x" target="_blank">Full Text</a>]
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<strong>Noonan phenotype associated with neurofibromatosis.</strong>
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Am. J. Med. Genet. 21: 457-462, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2411134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2411134</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2411134" 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.1320210307" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1096-8628(19961218)66:3<347::AID-AJMG20>3.0.CO;2-L" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20023" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30813" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1996.tb04328.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/498454" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng1294-357" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/00043426-199903000-00014" target="_blank">Full Text</a>]
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<a id="Meinecke1987" class="mim-anchor"></a>
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<strong>Evidence that the neurofibromatosis-Noonan syndrome is a variant of von Recklinghausen neurofibromatosis.</strong>
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[<a href="https://doi.org/10.1002/ajmg.1320260331" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2009.01233.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320210310" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2006.00576.x" target="_blank">Full Text</a>]
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Thiel, C., Wilken, M., Zenker, M., Sticht, H., Fahsold, R., Gusek-Schneider, G.-C., Rauch, A.
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<strong>Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.</strong>
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[<a href="https://doi.org/10.1002/ajmg.a.32837" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 12/23/2010
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Cassandra L. Kniffin - updated : 11/8/2010<br>Cassandra L. Kniffin - updated : 5/30/2006<br>Victor A. McKusick - updated : 12/12/2005<br>Victor A. McKusick - updated : 5/15/2003
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alopez : 10/21/2024
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carol : 05/15/2019<br>carol : 10/05/2018<br>carol : 03/08/2017<br>carol : 09/16/2016<br>wwang : 01/10/2011<br>ckniffin : 12/23/2010<br>wwang : 11/12/2010<br>ckniffin : 11/8/2010<br>carol : 11/23/2009<br>joanna : 2/2/2009<br>carol : 6/5/2006<br>ckniffin : 5/30/2006<br>carol : 4/25/2006<br>alopez : 12/20/2005<br>terry : 12/16/2005<br>terry : 12/12/2005<br>tkritzer : 5/20/2003<br>tkritzer : 5/19/2003<br>terry : 5/15/2003<br>carol : 6/26/1996
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<span class="mim-font">
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<strong>#</strong> 601321
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NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS
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</h3>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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NOONAN-NEUROFIBROMATOSIS SYNDROME<br />
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NEUROFIBROMATOSIS WITH NOONAN PHENOTYPE
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<strong>SNOMEDCT:</strong> 715344006;
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<strong>ORPHA:</strong> 638;
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<strong>DO:</strong> 0111683;
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<h4>
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<strong>Phenotype-Gene Relationships</strong>
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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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17q11.2
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<span class="mim-font">
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Neurofibromatosis-Noonan syndrome
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<span class="mim-font">
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601321
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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NF1
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<span class="mim-font">
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613113
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<span class="mim-font">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that some cases of neurofibromatosis-Noonan syndrome are caused by heterozygous mutation in the neurofibromin gene (NF1; 613113) on chromosome 17q11.</p><p>Allelic disorders include classic neurofibromatosis type I (162200) and Watson syndrome (193520).</p>
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<h4>
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<strong>Clinical Features</strong>
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<p>Allanson et al. (1985) reported 4 unrelated patients with neurofibromatosis who had manifestations of Noonan syndrome (163950), including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness. Family history was negative in each case. Average paternal and maternal ages were 37 and 28 years, respectively, at the birth of the patients, suggesting new dominant mutation. The chromosomes, including prometaphase preparations in 3 of the 4, were normal. The authors suggested that this is a distinct entity. Opitz and Weaver (1985) likewise favored the distinctness of what they called the neurofibromatosis-Noonan syndrome. They suggested that males are more likely to have fusiform swelling of nerve strands, while females more often show the classic neurofibromata seen in von Recklinghausen disease (NF1). Lisch nodules of the iris were uncommon, whereas there was a strong tendency to develop retroperitoneal or visceral (ganglio-) neurofibromatosis. </p><p>Abuelo and Meryash (1988) described an 18-year-old man with neurofibromatosis and classic manifestations of Noonan syndrome, including atrial septal defect of the secundum type and valvular and supravalvular pulmonic stenosis, for which cardiac surgery was performed. The father also had neurofibromatosis and was described by the authors as having 'some of the characteristics of Noonan syndrome,' which were only 'prominent nasolabial folds and apparently low-set ears.' The authors suggested several possibilities to explain the combination of features: (1) a mutation at a locus different from that of NF1 on chromosome 17; (2) an allele at the NF1 locus; (3) a coincidence of 2 relatively frequent conditions; or (4) associated disorders due to mutations at closely linked loci. In connection with the last possibility, it is of note that Abuelo and Meryash (1988) found no abnormality in the prophase chromosome analysis, performed with special attention to chromosome 17, in their propositus. </p><p>Meinecke (1987) and Quattrin et al. (1987) concluded that it was uncertain whether neurofibromatosis with Noonan syndrome-like features was a distinct entity. </p><p>Ahlbom et al. (1995) reported a family in which 4 individuals spanning 2 generations had Noonan syndrome and cafe-au-lait spots. Dysmorphic features included hypertelorism, epicanthal folds, downslanting palpebral fissures, high peaks of the upper vermilion border, and low-set ears. They also had pulmonary stenosis, cardiac conduction defect, short stature, short neck, and widely spaced nipples. Intelligence was normal. Nystrom et al. (2009) reported follow-up of the family reported by Ahlbom et al. (1995) and included additional affected family members. The Noonan syndrome facial phenotype was found in several family members but was less evident in others. All except 1 fulfilled the criteria for NF1, with cafe-au-lait spots, Lisch nodules, and axillary freckling. None had visible plexiform neurofibromas, but 2 had growing mandibles, suggestive of giant cell lesions. Upon reevaluation, Nystrom et al. (2009) concluded that the phenotype in this family was consistent with NFNS. </p><p>Colley et al. (1996) examined 94 persons with neurofibromatosis for features of the Noonan syndrome and found that 12, including some familial cases, had diagnostic criteria of the Noonan syndrome. One of the families showed independent segregation of NF1 and Noonan syndrome; in other families, half of those affected with NF1 had manifestations of the Noonan syndrome. However, linkage of the Noonan syndrome gene to chromosome 12 (Jamieson et al., 1994) suggested that the genes for NF1 and Noonan syndrome are neither allelic nor contiguous. Colley et al. (1996) suggested that some alterations of the NF1 gene may predispose to the Noonan syndrome phenotype, but considered it unlikely that a neurofibromatosis-Noonan syndrome phenotype is a distinct disorder or occurs as part of classic Noonan syndrome. </p><p>Bahuau et al. (1996, 1998) reported a 4-generation family in which 8 members had NF1/Noonan syndrome, 2 had NF1 only, and 2 had NS only. Linkage analysis showed tight linkage of the neurofibromatosis phenotype to the NF1 gene, whereas the Noonan phenotype was not linked to the NF1 gene. However, cosegregation of the 2 phenotypes suggested 2 genetically linked but distinct loci. Molecular analysis identified a heterozygous truncating mutation in the NF1 gene in all 10 patients with features of NF1, but not in the 2 patients with Noonan syndrome only. The findings suggested the presence of another locus for Noonan syndrome on 17q distinct from the NF1 gene. </p><p>Klopfenstein et al. (1999) reported 2 unrelated boys with neurofibromatosis-Noonan syndrome who developed acute lymphoblastic leukemia. </p><p>Stevenson et al. (2006) provided follow-up on the family reported by Carey et al. (1997) in which a mother and 4 of 5 offspring had NFNS. All 5 patients had multiple cafe-au-lait spots and relative macrocephaly consistent with NF1. None had neurofibromas. Variable features of Noonan syndrome included short stature (in 3 of 5 patients), speech delay (3), ptosis (5), downslanted palpebral fissures (2), telecanthus (3), malar hypoplasia (3), posteriorly angulated ears (4), broad neck (4), pectus anomaly (4), and pulmonic stenosis (3). </p>
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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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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of NFNS in 3 families reported by Baralle et al. (2003) was consistent with autosomal dominant inheritance. </p><p>The heterozygous mutations in the NF1 gene that were identified in 4 patients with NFNS by Baralle et al. (2003) occurred de novo. </p>
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</span>
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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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<span class="mim-text-font">
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<p>In affected members of a family with NFNS, Carey et al. (1997) identified a 3-bp deletion in exon 17 of the NF1 gene (162200.0033).</p><p>Baralle et al. (2003) used comparative sequence analysis to examine the NF1 gene in 6 patients with NFNS and identified mutations in 2: a 3-bp deletion in exon 25 (162200.0034) in 1 and a 2-bp insertion in exon 23-2 (162200.0035) in the other. The PTPN11 gene (176876), which had been recognized as the cause of more than 50% of Noonan syndrome cases, was also examined in 4 cases of NFNS, and no mutations were found. </p><p>To answer the question of whether NFNS represents a variable manifestation of either NF1 or NS or is a distinct clinical entity, De Luca et al. (2005) screened a cohort with clinically well-characterized NFNS for mutations in the entire coding sequence of the NF1 and PTPN11 genes, which are responsible for classic neurofibromatosis and Noonan syndrome, respectively. Heterozygous NF1 defects were identified in 16 of the 17 unrelated subjects studied, thus providing evidence that mutations in NF1 represent the major molecular event underlying this condition. A particularly high prevalence of in-frame defects affecting exons 24 and 25, which encode a portion of the GAP-related domain of the protein, was observed. On the other hand, no defect in PTPN11 was observed and no lesion affecting exons 11 through 27 of the NF1 gene was identified in 100 PTPN11 mutation-negative subjects with NS, providing further evidence that NFNS and NS are genetically distinct disorders. These results supported the view that NFNS is a variant of NF1 and is caused by mutations of the NF1 gene, some of which have been demonstrated to cause classic NF1 in other individuals. </p><p>De Luca et al. (2005) pointed out that some of the mutations identified in patients with NFNS have also been reported in NF1 without any features suggestive of NS. From a molecular point of view, the clinical overlap between NFNS and NS is not surprising: the NF1 and PTPN11 gene products, neurofibromin and SHP2, elicit their modulatory role through a common pathway. </p><p>Although Ahlbom et al. (1995) excluded linkage to the NF1 locus in a family with Noonan syndrome and cafe-au-lait spots, Nystrom et al. (2009) used direct sequencing to identify a heterozygous NF1 mutation (L1390F; 613113.0045) in affected members of this family. </p><p><strong><em>Cooccurrence of NF1 And PTPN11 Mutations</em></strong></p><p>
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Bertola et al. (2005) reported the occurrence of mutations in both NF1 (162200.0043) and PTPN11 (176876.0023) in a patient with neurofibromatosis type I and Noonan syndrome. This is probably a rare event accounting for a minority of these cases. </p><p>Thiel et al. (2009) reported another patient with features of both neurofibromatosis I and Noonan syndrome who had mutations in both the NF1 (162200.0044) and PTPN11 (176876.0027) genes. The PTPN11 mutation occurred de novo, and the NF1 mutation was inherited from the patient's mother, who had mild features of neurofibromatosis I, including the absence of optic gliomas. The proband developed bilateral optic gliomas before age 2 years, suggesting an additive effect of the 2 mutations on the Ras pathway. The proband also had short stature, delayed development, sternal abnormalities, and valvular pulmonary stenosis. </p>
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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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Abuelo, D. N., Meryash, D. L.
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<strong>Neurofibromatosis with fully expressed Noonan syndrome.</strong>
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Am. J. Med. Genet. 29: 937-941, 1988.
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[PubMed: 3135755]
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[Full Text: https://doi.org/10.1002/ajmg.1320290426]
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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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Ahlbom, B. E., Dahl, N., Zetterqvist, P., Anneren, G.
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<strong>Noonan syndrome with cafe-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus.</strong>
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Clin. Genet. 48: 85-89, 1995.
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[PubMed: 7586657]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1995.tb04061.x]
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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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Allanson, J. E., Hall, J. G., Van Allen, M. I.
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<strong>Noonan phenotype associated with neurofibromatosis.</strong>
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Am. J. Med. Genet. 21: 457-462, 1985.
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[PubMed: 2411134]
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[Full Text: https://doi.org/10.1002/ajmg.1320210307]
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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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Bahuau, M., Flintoff, W., Assouline, B., Lyonnet, S., Le Merrer, M., Prieur, M., Guilloud-Bataille, M., Feingold, N., Munnich, A., Vidaud, M., Vidaud, D.
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<strong>Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association.</strong>
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Am. J. Med. Genet. 66: 347-355, 1996.
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[PubMed: 8985499]
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[Full Text: https://doi.org/10.1002/(SICI)1096-8628(19961218)66:3<347::AID-AJMG20>3.0.CO;2-L]
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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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Bahuau, M., Houdayer, C., Assouline, B., Blanchet-Bardon, C., Le Merrer, M., Lyonnet, S., Giraud, S., Recan, D., Lakhdar, H., Vidaud, M., Vidaud, D.
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<strong>Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome.</strong>
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Am. J. Med. Genet. 75: 265-272, 1998.
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[PubMed: 9475595]
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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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Baralle, D., Mattocks, C., Kalidas, K., Elmslie, F., Whittaker, J., Lees, M., Ragge, N., Patton, M. A., Winter, R. M., ffrench-Constant, C.
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<strong>Different mutations in the NF1 gene are associated with neurofibromatosis-Noonan syndrome (NFNS).</strong>
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Am. J. Med. Genet. 119A: 1-8, 2003.
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[PubMed: 12707950]
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[Full Text: https://doi.org/10.1002/ajmg.a.20023]
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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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Bertola, D. R., Pereira, A. C., Passetti, F., de Oliveira, P. S., Messiaen, L., Gelb, B. D., Kim, C. A., Krieger, J. E.
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<strong>Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.</strong>
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Am. J. Med. Genet. 136A: 242-245, 2005.
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[PubMed: 15948193]
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[Full Text: https://doi.org/10.1002/ajmg.a.30813]
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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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Carey, J. C., Stevenson, D. A., Ota, M., Neil, S., Viskochil, D. H.
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<strong>Is there an NF/Noonan syndrome: Part 2. Documentation of the clinical and molecular aspects of an important family. (Abstract)</strong>
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Proc. Greenwood Genet. Center 17: 152-153, 1997.
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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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Colley, A., Donnai, D., Evans, D. G. R.
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<strong>Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis.</strong>
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Clin. Genet. 49: 59-64, 1996.
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[PubMed: 8740913]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1996.tb04328.x]
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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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De Luca, A., Bottillo, I., Sarkozy, A., Carta, C., Neri, C., Bellacchio, E., Schirinzi, A., Conti, E., Zampino, G., Battaglia, A., Majore, S., Rinaldi, M. M., Carella, M., Marino, B., Pizzuti, A., Digilio, M. C., Tartaglia, M., Dallapiccola, B.
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