3640 lines
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3640 lines
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Entry
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- #123500 - CROUZON SYNDROME
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- OMIM
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<p>
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<span class="h4">#123500</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="/clinicalSynopsis/123500"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#history">History</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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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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<li role="presentation">
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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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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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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="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</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="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=(CROUZON SYNDROME) OR (FGFR2)" 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=244&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1455/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/2018" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/crouzon-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=123500[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=207" 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/a93ab116-416b-46fd-9c2a-a2fc1358de29/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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</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-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:2339" 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/123500" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA002090/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:2339" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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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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</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>ORPHA:</strong> 207<br />
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<strong>DO:</strong> 2339<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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123500
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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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|
CROUZON SYNDROME
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
CRANIOFACIAL DYSOSTOSIS, TYPE I; CFD1<br />
|
|
CROUZON CRANIOFACIAL DYSOSTOSIS
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
|
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</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/10/618?start=-3&limit=10&highlight=618">
|
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10q26.13
|
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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">
|
|
Crouzon 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/123500"> 123500 </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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FGFR2
|
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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/176943"> 176943 </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/123500" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
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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">
|
|
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/123500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/123500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
|
</div>
|
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|
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
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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 />
|
|
|
|
</span>
|
|
</div>
|
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|
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</div>
|
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|
|
</div>
|
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|
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|
|
|
|
|
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|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Craniosynostosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57219006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57219006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1421244&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1421244</a>, <a href="https://bioportal.bioontology.org/search?q=C5848303&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5848303</a>, <a href="https://bioportal.bioontology.org/search?q=C0010278&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010278</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001363" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001363</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0005458" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005458</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001363" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001363</a>]</span><br /> -
|
|
Brachycephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13649004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13649004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221356&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221356</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000248" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000248</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000248" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000248</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9ccc4d161e106e4d5543286323f007ce" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Brachycephaly-Large-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9ccc4d161e106e4d5543286323f007ce" 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">
|
|
|
|
- Frontal bossing <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90145001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90145001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221354</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Frontal_Bossing-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25" 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 /> -
|
|
Maxillary hypoplasia <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.03</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240310</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000327</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000327</a>]</span><br /> -
|
|
Mandibular prognathism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109504005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109504005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22810007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22810007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.213</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0399526&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0399526</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</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">
|
|
|
|
- Conductive hearing loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44057004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44057004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018777&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018777</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000405" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000405</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000405" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000405</a>]</span><br /> -
|
|
Atretic external auditory canals <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/75355004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">75355004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266597&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266597</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000413" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000413</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000413" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000413</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">
|
|
|
|
- Optic atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/76976005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">76976005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/377.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/377.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029124&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029124</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span><br /> -
|
|
Shallow orbits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865244&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865244</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000586</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000586</a>]</span><br /> -
|
|
Proptosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18265008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18265008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H05.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H05.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015300&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015300</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000520" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000520</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000520" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000520</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6af31553b7a2036f686889c591efedb3" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Proptosis-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6af31553b7a2036f686889c591efedb3" 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 /> -
|
|
Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br /> -
|
|
Exposure conjunctivitis/keratitis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852460&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852460</a>]</span><br /> -
|
|
Poor vision <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246635007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246635007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7973008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7973008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397540003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397540003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042798&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042798</a>, <a href="https://bioportal.bioontology.org/search?q=C3665347&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665347</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000505" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000505</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000505" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000505</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">
|
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<em> Nose </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- Parrot-like nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852461&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852461</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> Mouth </em>
|
|
</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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|
|
- Lateral palatal swellings <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852462&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852462</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">
|
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<em> Teeth </em>
|
|
</span>
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</div>
|
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<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- Dental crowding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12351004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12351004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040433&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040433</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000678</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000678</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bc1fcb988aa10dd9d5f3774c342364a9" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Dental_Crowding-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bc1fcb988aa10dd9d5f3774c342364a9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
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</span>
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</div>
|
|
</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nasopharynx </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Sleep apnea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/73430006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">73430006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G47.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G47.3</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G47.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G47.30</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.57" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.57</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3496180&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3496180</a>, <a href="https://bioportal.bioontology.org/search?q=C0037315&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037315</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010535" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010535</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010535" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010535</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
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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;">
|
|
|
|
|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Internal Genitalia (Female) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dysgerminoma (in 1 patient) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60718004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60718004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100621" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100621</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100621" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100621</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
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|
|
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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> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skull </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Craniosynostosis (coronal, sagittal, lambdoid sutures) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860152&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860152</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57219006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57219006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.0</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001363" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001363</a>]</span><br /> -
|
|
Calcification of stylohyoid ligament <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/699655001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">699655001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3698568&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3698568</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cervical spine abnormalities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852464&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852464</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003319</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003319</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
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|
|
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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> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutations in the fibroblast growth factor receptor 2 gene (FGFR2, <a href="/entry/176943#0001">176943.0001</a>)<br />
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>A number sign (#) is used with this entry because of evidence that Crouzon syndrome is caused by heterozygous mutation in the gene encoding fibroblast growth factor receptor-2 (FGFR2; <a href="/entry/176943">176943</a>) on chromosome 10q26.</p><p>See also Crouzon syndrome with acanthosis nigricans (CAN; <a href="/entry/612247">612247</a>), a distinct disorder caused by a specific mutation in the FGFR3 gene (A391E; <a href="/entry/134934#0011">134934.0011</a>).</p>
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<p>Crouzon syndrome is an autosomal dominant disorder characterized by craniosynostosis causing secondary alterations of the facial bones and facial structure. Common features include hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism (<a href="#26" class="mim-tip-reference" title="Reardon, W., Winter, R. M., Rutland, P., Pulleyn, L. J., Jones, B. M., Malcolm, S. <strong>Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.</strong> Nature Genet. 8: 98-103, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987400</a>] [<a href="https://doi.org/10.1038/ng0994-98" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7987400">Reardon et al., 1994</a>; <a href="#15" class="mim-tip-reference" title="Glaser, R. L., Jiang, W., Boyadjiev, S. A., Tran, A. K., Zachary, A. A., Van Maldergem, L., Johnson, D., Walsh, S., Oldridge, M., Wall, S. A., Wilkie, A. O. M., Jabs, E. W. <strong>Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.</strong> Am. J. Hum. Genet. 66: 768-777, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10712195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10712195</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10712195[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/10.1086/302831" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10712195">Glaser et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10712195+7987400" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Crouzon, O. <strong>Dysostose cranio-faciale hereditaire.</strong> Bull. Mem. Soc. Med. Hop. Paris 33: 545-555, 1912."None>Crouzon (1912)</a> first described this syndrome in a family.</p><p><a href="#29" class="mim-tip-reference" title="Shiller, J. G. <strong>Craniofacial dysostosis of Crouzon: a case report and pedigree with emphasis on heredity.</strong> Pediatrics 23: 107-112, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13613871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13613871</a>]" pmid="13613871">Shiller (1959)</a> observed autosomal dominant transmission of Crouzon craniofacial dysostosis in 23 family members spanning 4 generations. There was marked variability in both cranial and facial manifestations. <a href="#8" class="mim-tip-reference" title="Dodge, H. W., Wood, M. W., Kennedy, R. L. J. <strong>Craniofacial dysostosis: Crouzon's disease.</strong> Pediatrics 23: 98-106, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13613870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13613870</a>]" pmid="13613870">Dodge et al. (1959)</a> described 3 patients with typical Crouzon disease; 2 of these had a positive family history and one was sporadic. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13613870+13613871" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Devine, P., Bhan, M., Feingold, M., Leonidas, J., Wolpert, S. <strong>Completely cartilaginous trachea in a child with Crouzon syndrome.</strong> Am. J. Dis. Child. 138: 40-43, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6546324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6546324</a>] [<a href="https://doi.org/10.1001/archpedi.1984.02140390032010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6546324">Devine et al. (1984)</a> described a completely cartilaginous trachea without ring formation in a child with Crouzon syndrome who continued to have respiratory distress despite surgical repair of choanal stenosis. Death from respiratory problems occurred at the age of 23 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6546324" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Cohen, S. R., Dauser, R. C., Gorski, J. L. <strong>Insidious onset of familial craniosynostosis.</strong> Cleft Palate Craniofac. J. 30: 401-405, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8399270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8399270</a>] [<a href="https://doi.org/10.1597/1545-1569_1993_030_0401_ioofc_2.3.co_2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8399270">Cohen et al. (1993)</a> reported a mother, son, and daughter in whom serial photographs documented an insidious and late onset of exorbitism and midfacial retrusion. Papilledema resulting from increased intracranial pressure secondary to a reduction in cranial vault size was found in the 4.5-year-old daughter, whereas optic nerve sheath swelling was found on CT scan in the son. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8399270" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Reddy, K., Hoffman, H., Armstrong, D. <strong>Delayed and progressive multiple suture craniosynostosis.</strong> Neurosurgery 26: 442-448, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2320213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2320213</a>] [<a href="https://doi.org/10.1097/00006123-199003000-00011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2320213">Reddy et al. (1990)</a> described 4 patients who presented between the ages of 2 and 9 years with 'delayed holocalvarial synostosis.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2320213" 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="#3" class="mim-tip-reference" title="Cinalli, G., Renier, D., Sebag, G., Sainte-Rose, C., Arnaud, E., Pierre-Kahn, A. <strong>Chronic tonsillar herniation in Crouzon's and Apert's syndromes: the role of premature synostosis of the lambdoid suture.</strong> J. Neurosurg. 83: 575-582, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7674004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7674004</a>] [<a href="https://doi.org/10.3171/jns.1995.83.4.0575" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7674004">Cinalli et al. (1995)</a> reviewed the neurosurgical complications of Crouzon syndrome in a series of 68 patients. Nineteen of these patients required treatment for progressive hydrocephalus and 72.7% of these patients had chronic tonsillar herniation, which was symptomatic in 6 individuals. Four individuals had syringomyelia and another had a respiratory standstill, whereas the remaining patient had painful torticollis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7674004" 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>Phenotypic Variability</em></strong></p><p>
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<a href="#1" class="mim-tip-reference" title="Bagheri-Fam, S., Ono, M., Li, L., Zhao, L., Ryan, J., Lai, R., Katsura, Y., Rossello, F. J., Koopman, P., Scherer, G., Bartsch, O., Eswarakumar, J. V. P., Harley, V. R. <strong>FGFR2 mutation in 46,XY sex reversal with craniosynostosis.</strong> Hum. Molec. Genet. 24: 6699-6710, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26362256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26362256</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26362256[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/10.1093/hmg/ddv374" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26362256">Bagheri-Fam et al. (2015)</a> reported a 15-year-old girl with Crouzon-like craniosynostosis and a mutation in the FGFR2 gene who also exhibited 46,XY complete gonadal dysgenesis. Craniofacial features included brachycephalic craniosynostosis for which she required surgery, proptosis with downslanting palpebral fissures, and low-set dorsally rotated ears. The patient also had short stature and limited movement of the elbows and knees, but no anomalies of the hands or feet. She presented with delayed puberty, primary amenorrhea, female external genitalia, and Mullerian structures, and underwent gonadectomy due to the presence of bilateral ovarian tumors. Histologic analysis revealed bilateral dysgerminoma, which apparently developed from preexisting gonadoblastoma. The gonads lacked seminiferous tubules, and only a few Sertoli- and Leydig-like cells were detected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26362256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#12" class="mim-tip-reference" title="Fogh-Andersen, P. <strong>Craniofacial dysostosis (Crouzon's disease) as a dominant hereditary affection.</strong> Nord. Med. 18: 993-996, 1943."None>Fogh-Andersen (1943)</a>, <a href="#11" class="mim-tip-reference" title="Flippen, J. H., Jr. <strong>Cranio-facial dysostosis of Crouzon: report of a case in which the malformation occurred in four generations.</strong> Pediatrics 5: 90-96, 1950.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15404650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15404650</a>]" pmid="15404650">Flippen (1950)</a>, and <a href="#29" class="mim-tip-reference" title="Shiller, J. G. <strong>Craniofacial dysostosis of Crouzon: a case report and pedigree with emphasis on heredity.</strong> Pediatrics 23: 107-112, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13613871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13613871</a>]" pmid="13613871">Shiller (1959)</a> traced Crouzon craniosynostosis through 4 generations of 3 different families, consistent with autosomal dominant inheritance. <a href="#24" class="mim-tip-reference" title="Pinkerton, O. D., Pinkerton, F. J. <strong>Hereditary craniofacial dysplasia.</strong> Am. J. Ophthal. 35: 500-506, 1952.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14914838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14914838</a>] [<a href="https://doi.org/10.1016/0002-9394(52)91316-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14914838">Pinkerton and Pinkerton (1952)</a> observed the disorder in a mother and 2 of her 3 daughters. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13613871+14914838+15404650" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#30" class="mim-tip-reference" title="Vulliamy, D. G., Normandale, P. A. <strong>Cranio-facial dysostosis in a Dorset family.</strong> Arch. Dis. Child. 41: 375-382, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21032436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21032436</a>] [<a href="https://doi.org/10.1136/adc.41.218.375" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21032436">Vulliamy and Normandale (1966)</a> identified 14 cases of Crouzon disease in 4 generations of a family with several instances of male-to-male transmission. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21032436" 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="#19" class="mim-tip-reference" title="Jones, K. L., Smith, D. W., Harvey, M. A. S., Hall, B. D., Quan, L. <strong>Older paternal age and fresh gene mutation: data on additional disorders.</strong> J. Pediat. 86: 84-88, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1110452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1110452</a>] [<a href="https://doi.org/10.1016/s0022-3476(75)80709-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1110452">Jones et al. (1975)</a> found evidence of paternal age effect in new mutations for this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1110452" 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="#28" class="mim-tip-reference" title="Rollnick, B. R. <strong>Germinal mosaicism in Crouzon syndrome.</strong> Clin. Genet. 33: 145-150, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3359675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3359675</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1988.tb03429.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3359675">Rollnick (1988)</a> described 2 brothers with Crouzon syndrome born to normal, unrelated parents, and proposed germinal mosaicism as the explanation. <a href="#21" class="mim-tip-reference" title="Kreiborg, S., Cohen, M. M., Jr. <strong>Germinal mosaicism in Crouzon syndrome.</strong> Hum. Genet. 84: 487-488, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2323783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2323783</a>] [<a href="https://doi.org/10.1007/BF00195827" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2323783">Kreiborg and Cohen (1990)</a> suggested germinal mosaicism as the basis for 2 affected sibs with the same mother but different fathers. The mother and both fathers were completely normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3359675+2323783" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Goriely, A., Lord, H., Lim, J., Johnson, D., Lester, T., Firth, H. V., Wilkie, A. O. M. <strong>Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: implications for genetic testing in 'paternal age-effect' syndromes.</strong> Am. J. Med. Genet. 152A: 2067-2073, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20635358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20635358</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20635358[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/10.1002/ajmg.a.33513" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20635358">Goriely et al. (2010)</a> reported a girl with a mild form of Crouzon syndrome, confirmed by genetic analysis, whose clinically unaffected mother was found to be somatic mosaic for a heterozygous FGFR2 mutation. Levels of maternal somatic mosaicism for the mutation were estimated to range from 3.3% in hair roots to 14.1% in blood. Since her daughter inherited the same mutation, it was presumed to be present also in the mother's germline. The findings underlined the importance of parental molecular testing for accurate genetic counseling of the risk of recurrence for Crouzon syndrome, which is most often due to a de novo mutation resulting from a paternal age effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20635358" 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 a large kindred with Crouzon craniofacial dysostosis, <a href="#25" class="mim-tip-reference" title="Preston, R. A., Post, J. C., Keats, B. J. B., Aston, C. E., Ferrell, R. E., Priest, J., Nouri, N., Losken, H. W., Morris, C. A., Hurtt, M. R., Mulvihill, J. J., Ehrlich, G. D. <strong>A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10.</strong> Nature Genet. 7: 149-153, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7920632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7920632</a>] [<a href="https://doi.org/10.1038/ng0694-149" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7920632">Preston et al. (1994)</a> found linkage to 3 loci (D10S190, D10S209, and D10S216) spanning a 13-cM region on chromosome 10q. A maximum pairwise lod score of 4.42 at theta = 0.0 was obtained with D10S190 and the addition of a second kindred produced a combined pairwise lod score of 5.32 at theta = 0.0. In a note added in proof, <a href="#25" class="mim-tip-reference" title="Preston, R. A., Post, J. C., Keats, B. J. B., Aston, C. E., Ferrell, R. E., Priest, J., Nouri, N., Losken, H. W., Morris, C. A., Hurtt, M. R., Mulvihill, J. J., Ehrlich, G. D. <strong>A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10.</strong> Nature Genet. 7: 149-153, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7920632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7920632</a>] [<a href="https://doi.org/10.1038/ng0694-149" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7920632">Preston et al. (1994)</a> stated that a newly available highly informative marker, D10S587, located 7 cM distal to D10S209, increased the 2-family multipoint lod score for linkage between CFD1 and D10S209 to 7.3 at theta = 0.0. Two of the genetic marker loci were within 10q25-q26. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7920632" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#26" class="mim-tip-reference" title="Reardon, W., Winter, R. M., Rutland, P., Pulleyn, L. J., Jones, B. M., Malcolm, S. <strong>Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.</strong> Nature Genet. 8: 98-103, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987400</a>] [<a href="https://doi.org/10.1038/ng0994-98" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7987400">Reardon et al. (1994)</a> identified mutations in the FGFR2 gene (see, e.g., <a href="/entry/176943#0001">176943.0001</a>-<a href="/entry/176943#0006">176943.0006</a>) in 9 of 20 patients with Crouzon syndrome. Because no evidence of genetic heterogeneity on the basis of linkage studies had been found, <a href="#26" class="mim-tip-reference" title="Reardon, W., Winter, R. M., Rutland, P., Pulleyn, L. J., Jones, B. M., Malcolm, S. <strong>Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.</strong> Nature Genet. 8: 98-103, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987400</a>] [<a href="https://doi.org/10.1038/ng0994-98" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7987400">Reardon et al. (1994)</a> concluded that mutations in parts of the FGFR2 gene other than in the B exon were responsible for the remaining cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7987400" 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="Jabs, E. W., Li, X., Scott, A. F., Meyers, G., Chen, W., Eccles, M., Mao, J., Charnas, L. R., Jackson, C. E., Jaye, M. <strong>Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.</strong> Nature Genet. 8: 275-279, 1994. Note: Erratum: Nature Genet. 9: 451 only, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7874170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7874170</a>] [<a href="https://doi.org/10.1038/ng1194-275" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7874170">Jabs et al. (1994)</a> demonstrated mutations in the FGFR2 gene in patients with Crouzon syndrome as well as in patients with Jackson-Weiss syndrome (JWS; <a href="/entry/123150">123150</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7874170" 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="Charnas, L., Hofman, K. J., Rosenbaum, K. N. <strong>Crouzon syndrome: evidence of incomplete penetrance (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A43, 1989."None>Charnas et al. (1989)</a> described affected male and female second cousins, and suggested either incomplete penetrance or another molecular predisposition ('premutation'). However, <a href="#23" class="mim-tip-reference" title="Meyers, G. A., Orlow, S. J., Munro, I. R., Przylepa, K. A., Jabs, E. W. <strong>Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.</strong> Nature Genet. 11: 462-464, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493034</a>] [<a href="https://doi.org/10.1038/ng1295-462" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7493034">Meyers et al. (1995)</a> reported that the 2 patients described by <a href="#2" class="mim-tip-reference" title="Charnas, L., Hofman, K. J., Rosenbaum, K. N. <strong>Crouzon syndrome: evidence of incomplete penetrance (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A43, 1989."None>Charnas et al. (1989)</a> had mutations in different genes: the patient with classic Crouzon syndrome had an FGFR2 mutation (<a href="/entry/176943#0009">176943.0009</a>), whereas the second cousin had Crouzon syndrome with acanthosis nigricans (<a href="/entry/612247">612247</a>) due to the FGFR3 A391E mutation (<a href="/entry/134934#0001">134934.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7493034" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 22 of 41 probands with Crouzon syndrome or Pfeiffer syndrome (<a href="/entry/101600">101600</a>), <a href="#15" class="mim-tip-reference" title="Glaser, R. L., Jiang, W., Boyadjiev, S. A., Tran, A. K., Zachary, A. A., Van Maldergem, L., Johnson, D., Walsh, S., Oldridge, M., Wall, S. A., Wilkie, A. O. M., Jabs, E. W. <strong>Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.</strong> Am. J. Hum. Genet. 66: 768-777, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10712195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10712195</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10712195[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/10.1086/302831" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10712195">Glaser et al. (2000)</a> identified 11 different FGFR2 mutations. All the mutations were paternal in origin. Advanced paternal age was noted for the fathers of patients with Crouzon syndrome or Pfeiffer syndrome, compared with the fathers of control individuals. This finding extended previous information on advanced paternal age for sporadic FGFR2 mutations causing Apert syndrome (<a href="/entry/101200">101200</a>) and FGFR3 mutations causing achondroplasia (<a href="/entry/100800">100800</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10712195" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 15-year-old girl with Crouzon-like craniosynostosis and 46,XY complete gonadal dysgenesis, <a href="#1" class="mim-tip-reference" title="Bagheri-Fam, S., Ono, M., Li, L., Zhao, L., Ryan, J., Lai, R., Katsura, Y., Rossello, F. J., Koopman, P., Scherer, G., Bartsch, O., Eswarakumar, J. V. P., Harley, V. R. <strong>FGFR2 mutation in 46,XY sex reversal with craniosynostosis.</strong> Hum. Molec. Genet. 24: 6699-6710, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26362256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26362256</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26362256[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/10.1093/hmg/ddv374" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26362256">Bagheri-Fam et al. (2015)</a> sequenced the candidate gene FGFR2 and identified heterozygosity for the C342S mutation (<a href="/entry/176943#0003">176943.0003</a>) that had previously been identified in 1 patient diagnosed with Crouzon syndrome, 1 patient diagnosed with Jackson-Weiss syndrome (<a href="/entry/123150">123150</a>), and 1 patient with an 'extreme' Antley-Bixler phenotype (<a href="/entry/207410">207410</a>). DNA from the proband's parents was unavailable for study. Whole-exome sequencing to search for potential modifier variants influencing the proband's phenotype revealed single-nucleotide variants or indels in 193 genes. <a href="#1" class="mim-tip-reference" title="Bagheri-Fam, S., Ono, M., Li, L., Zhao, L., Ryan, J., Lai, R., Katsura, Y., Rossello, F. J., Koopman, P., Scherer, G., Bartsch, O., Eswarakumar, J. V. P., Harley, V. R. <strong>FGFR2 mutation in 46,XY sex reversal with craniosynostosis.</strong> Hum. Molec. Genet. 24: 6699-6710, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26362256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26362256</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26362256[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/10.1093/hmg/ddv374" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26362256">Bagheri-Fam et al. (2015)</a> noted that although none of the changes were located in 63 genes associated with disorders of sex development, the patient did carry novel changes or indels in 35 genes that, in mice, are expressed in pre-Sertoli cells at the time of sex determination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26362256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Cohen, M. M., Jr., Kreiborg, S. <strong>Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods.</strong> Clin. Genet. 41: 12-15, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1633640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1633640</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03620.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1633640">Cohen and Kreiborg (1992)</a> estimated that Crouzon syndrome represents approximately 4.8% of cases of craniosynostosis at birth. The birth prevalence was estimated to be 16.5 per million births. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1633640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#10" class="mim-tip-reference" title="Eswarakumar, V. P., Ozcan, F., Lew, E. D., Bae, J. H., Tome, F., Booth, C. J., Adams, D. J., Lax, I., Schlessinger, J. <strong>Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis.</strong> Proc. Nat. Acad. Sci. 103: 18603-18608, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17132737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17132737</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17132737[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/10.1073/pnas.0609157103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17132737">Eswarakumar et al. (2006)</a> generated mice with a Crouzon-like craniosynostosis induced by a dominant mutation in the mesenchymal splice form of Fgfr2 (Fgfr2c) (C342Y; <a href="/entry/176943#0001">176943.0001</a>), and observed ocular proptosis, a rounded cranium, fusion of the coronal sutures, and a significantly shortened facial region. Expression of the C342Y mutation in cis with the L424A and R426A mutations of the juxtamembrane domain resulted in attenuation of signaling pathways by selective uncoupling between the docking protein Frs2a (<a href="/entry/607743">607743</a>) and activated Fgfr2c, thus preventing premature fusion of sutures and resulting in normal skull development. <a href="#10" class="mim-tip-reference" title="Eswarakumar, V. P., Ozcan, F., Lew, E. D., Bae, J. H., Tome, F., Booth, C. J., Adams, D. J., Lax, I., Schlessinger, J. <strong>Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis.</strong> Proc. Nat. Acad. Sci. 103: 18603-18608, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17132737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17132737</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17132737[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/10.1073/pnas.0609157103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17132737">Eswarakumar et al. (2006)</a> also demonstrated that attenuation of Fgfr signaling in a calvaria organ culture with an Fgfr inhibitor prevented premature fusion of sutures without adversely affecting the development of the skull. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17132737" 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>On the basis of an affected brother and sister with unaffected nonconsanguineous parents, <a href="#20" class="mim-tip-reference" title="Juberg, R. C., Chambers, S. R. <strong>An autosomal recessive form of craniofacial dysostosis (the Crouzon syndrome).</strong> J. Med. Genet. 10: 89-93, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4697859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4697859</a>] [<a href="https://doi.org/10.1136/jmg.10.1.89" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4697859">Juberg and Chambers (1973)</a> suggested the existence of a recessive form of Crouzon disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4697859" 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>Pseudo-Crouzon Syndrome</em></strong></p><p>
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<a href="#13" class="mim-tip-reference" title="Franceschetti, A. <strong>Dysostose cranienne avec calotte cerebriforme (pseudo-Crouzon).</strong> Confin. Neurol. 13: 161-166, 1953.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13082990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13082990</a>]" pmid="13082990">Franceschetti (1953)</a> described a seemingly distinct disorder under the designation cranial dysostosis with pronounced digital impressions, or 'pseudo-Crouzon disease.' However, <a href="#17" class="mim-tip-reference" title="Gorlin, R. J. <strong>Personal Communication.</strong> Minneapolis, Minn. 1982."None>Gorlin (1982)</a> concluded that it is not distinct from Crouzon disease. According to Franceschetti's appraisal, in Crouzon disease and pseudo-Crouzon disease, the pronounced digital impressions, or convolutional markings, are identical, and the essential difference is in the face: in pseudo-Crouzon disease, there is no prognathism, the nose is not curved, and divergent squint is usually lacking. Prominent forehead and some degree of exophthalmos are features. <a href="#14" class="mim-tip-reference" title="Franceschetti, A. <strong>Cranial dysostosis with pronounced digital impressions (pseudo-Crouzon dysostosis). In: Beard, C. (ed.): Symposium on surgical and Medical Management of Congenital Anomalies of the Eye.</strong> St. Louis: C. V. Mosby (pub.) 1968. Pp. 81-84."None>Franceschetti (1968)</a> proposed that <a href="#31" class="mim-tip-reference" title="Walsh, F. B. <strong>Clinical Neuro-ophthalmology. (2nd ed.)</strong> Baltimore: Williams and Wilkins (pub.) 1957."None>Walsh (1957)</a> described a case of pseudo-Crouzon disease as Crouzon disease. None of Franceschetti's cases was familial, but <a href="#9" class="mim-tip-reference" title="Dolivo, G., Gillieron, J.-D. <strong>Une famille de pseudo-Crouzon.</strong> Confin. Neurol. 15: 114-118, 1955.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14390947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14390947</a>]" pmid="14390947">Dolivo and Gillieron (1955)</a> described affected brother and sister whose mother, grandmother, and great-grandmother were said to have oxycephaly. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13082990+14390947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Kreiborg1977" class="mim-tip-reference" title="Kreiborg, S., Jensen, B. L. <strong>Variable expressivity of Crouzon's syndrome within a family.</strong> Scand. J. Dent. Res. 85: 175-184, 1977.">Kreiborg and Jensen (1977)</a>
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Bagheri-Fam, S., Ono, M., Li, L., Zhao, L., Ryan, J., Lai, R., Katsura, Y., Rossello, F. J., Koopman, P., Scherer, G., Bartsch, O., Eswarakumar, J. V. P., Harley, V. R.
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<strong>FGFR2 mutation in 46,XY sex reversal with craniosynostosis.</strong>
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Hum. Molec. Genet. 24: 6699-6710, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26362256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26362256</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26362256[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26362256" 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/10.1093/hmg/ddv374" target="_blank">Full Text</a>]
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Charnas, L., Hofman, K. J., Rosenbaum, K. N.
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<strong>Crouzon syndrome: evidence of incomplete penetrance (Abstract)</strong>
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Am. J. Hum. Genet. 45 (suppl.): A43, 1989.
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Cinalli, G., Renier, D., Sebag, G., Sainte-Rose, C., Arnaud, E., Pierre-Kahn, A.
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<strong>Chronic tonsillar herniation in Crouzon's and Apert's syndromes: the role of premature synostosis of the lambdoid suture.</strong>
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J. Neurosurg. 83: 575-582, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7674004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7674004</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7674004" 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/10.3171/jns.1995.83.4.0575" target="_blank">Full Text</a>]
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Cohen, M. M., Jr., Kreiborg, S.
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<strong>Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods.</strong>
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Clin. Genet. 41: 12-15, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1633640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1633640</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1633640" 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.1399-0004.1992.tb03620.x" target="_blank">Full Text</a>]
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Cohen, S. R., Dauser, R. C., Gorski, J. L.
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<strong>Insidious onset of familial craniosynostosis.</strong>
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Cleft Palate Craniofac. J. 30: 401-405, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8399270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8399270</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8399270" 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/10.1597/1545-1569_1993_030_0401_ioofc_2.3.co_2" target="_blank">Full Text</a>]
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Crouzon, O.
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<strong>Dysostose cranio-faciale hereditaire.</strong>
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Bull. Mem. Soc. Med. Hop. Paris 33: 545-555, 1912.
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Devine, P., Bhan, M., Feingold, M., Leonidas, J., Wolpert, S.
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<strong>Completely cartilaginous trachea in a child with Crouzon syndrome.</strong>
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Am. J. Dis. Child. 138: 40-43, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6546324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6546324</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6546324" 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/10.1001/archpedi.1984.02140390032010" target="_blank">Full Text</a>]
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Dodge, H. W., Wood, M. W., Kennedy, R. L. J.
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<strong>Craniofacial dysostosis: Crouzon's disease.</strong>
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Pediatrics 23: 98-106, 1959.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13613870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13613870</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13613870" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Dolivo, G., Gillieron, J.-D.
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<strong>Une famille de pseudo-Crouzon.</strong>
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Confin. Neurol. 15: 114-118, 1955.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14390947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14390947</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14390947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Eswarakumar, V. P., Ozcan, F., Lew, E. D., Bae, J. H., Tome, F., Booth, C. J., Adams, D. J., Lax, I., Schlessinger, J.
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<strong>Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis.</strong>
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Proc. Nat. Acad. Sci. 103: 18603-18608, 2006.
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<a id="Shiller1959" class="mim-anchor"></a>
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Shiller, J. G.
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<strong>Craniofacial dysostosis of Crouzon: a case report and pedigree with emphasis on heredity.</strong>
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Pediatrics 23: 107-112, 1959.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13613871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13613871</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13613871" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="30" class="mim-anchor"></a>
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<a id="Vulliamy1966" class="mim-anchor"></a>
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<p class="mim-text-font">
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Vulliamy, D. G., Normandale, P. A.
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<strong>Cranio-facial dysostosis in a Dorset family.</strong>
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Arch. Dis. Child. 41: 375-382, 1966.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21032436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21032436</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21032436" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/adc.41.218.375" target="_blank">Full Text</a>]
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<p class="mim-text-font">
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Walsh, F. B.
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<strong>Clinical Neuro-ophthalmology. (2nd ed.)</strong>
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Baltimore: Williams and Wilkins (pub.) 1957.
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 3/18/2016
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Cassandra L. Kniffin - updated : 1/11/2011<br>Cassandra L. Kniffin - reorganized : 9/4/2008<br>Marla J. F. O'Neill - updated : 4/17/2007<br>Orest Hurko - updated : 4/1/1996
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/23/1986
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carol : 05/15/2019
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alopez : 03/08/2018<br>carol : 08/03/2016<br>carol : 07/09/2016<br>carol : 3/22/2016<br>alopez : 3/18/2016<br>terry : 4/4/2013<br>wwang : 1/31/2011<br>ckniffin : 1/11/2011<br>carol : 5/19/2010<br>carol : 3/15/2010<br>carol : 9/4/2008<br>ckniffin : 8/22/2008<br>wwang : 4/17/2007<br>mcapotos : 5/4/2000<br>mcapotos : 5/4/2000<br>carol : 12/6/1999<br>carol : 7/1/1998<br>terry : 6/19/1998<br>jenny : 10/21/1997<br>alopez : 7/7/1997<br>mark : 6/9/1997<br>terry : 4/1/1997<br>terry : 5/6/1996<br>terry : 4/15/1996<br>terry : 4/1/1996<br>terry : 3/22/1996<br>mark : 12/6/1995<br>carol : 1/23/1995<br>pfoster : 8/18/1994<br>davew : 7/28/1994<br>mimadm : 6/25/1994<br>jason : 6/15/1994<br>warfield : 4/8/1994
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<span class="mim-font">
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<strong>#</strong> 123500
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CROUZON SYNDROME
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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CRANIOFACIAL DYSOSTOSIS, TYPE I; CFD1<br />
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CROUZON CRANIOFACIAL DYSOSTOSIS
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<strong>ORPHA:</strong> 207;
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<strong>DO:</strong> 2339;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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10q26.13
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<span class="mim-font">
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Crouzon syndrome
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123500
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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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FGFR2
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176943
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Crouzon syndrome is caused by heterozygous mutation in the gene encoding fibroblast growth factor receptor-2 (FGFR2; 176943) on chromosome 10q26.</p><p>See also Crouzon syndrome with acanthosis nigricans (CAN; 612247), a distinct disorder caused by a specific mutation in the FGFR3 gene (A391E; 134934.0011).</p>
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<strong>Description</strong>
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<p>Crouzon syndrome is an autosomal dominant disorder characterized by craniosynostosis causing secondary alterations of the facial bones and facial structure. Common features include hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism (Reardon et al., 1994; Glaser et al., 2000). </p>
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<strong>Clinical Features</strong>
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<p>Crouzon (1912) first described this syndrome in a family.</p><p>Shiller (1959) observed autosomal dominant transmission of Crouzon craniofacial dysostosis in 23 family members spanning 4 generations. There was marked variability in both cranial and facial manifestations. Dodge et al. (1959) described 3 patients with typical Crouzon disease; 2 of these had a positive family history and one was sporadic. </p><p>Devine et al. (1984) described a completely cartilaginous trachea without ring formation in a child with Crouzon syndrome who continued to have respiratory distress despite surgical repair of choanal stenosis. Death from respiratory problems occurred at the age of 23 months. </p><p>Cohen et al. (1993) reported a mother, son, and daughter in whom serial photographs documented an insidious and late onset of exorbitism and midfacial retrusion. Papilledema resulting from increased intracranial pressure secondary to a reduction in cranial vault size was found in the 4.5-year-old daughter, whereas optic nerve sheath swelling was found on CT scan in the son. </p><p>Reddy et al. (1990) described 4 patients who presented between the ages of 2 and 9 years with 'delayed holocalvarial synostosis.' </p><p>Cinalli et al. (1995) reviewed the neurosurgical complications of Crouzon syndrome in a series of 68 patients. Nineteen of these patients required treatment for progressive hydrocephalus and 72.7% of these patients had chronic tonsillar herniation, which was symptomatic in 6 individuals. Four individuals had syringomyelia and another had a respiratory standstill, whereas the remaining patient had painful torticollis. </p><p><strong><em>Phenotypic Variability</em></strong></p><p>
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Bagheri-Fam et al. (2015) reported a 15-year-old girl with Crouzon-like craniosynostosis and a mutation in the FGFR2 gene who also exhibited 46,XY complete gonadal dysgenesis. Craniofacial features included brachycephalic craniosynostosis for which she required surgery, proptosis with downslanting palpebral fissures, and low-set dorsally rotated ears. The patient also had short stature and limited movement of the elbows and knees, but no anomalies of the hands or feet. She presented with delayed puberty, primary amenorrhea, female external genitalia, and Mullerian structures, and underwent gonadectomy due to the presence of bilateral ovarian tumors. Histologic analysis revealed bilateral dysgerminoma, which apparently developed from preexisting gonadoblastoma. The gonads lacked seminiferous tubules, and only a few Sertoli- and Leydig-like cells were detected. </p>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Fogh-Andersen (1943), Flippen (1950), and Shiller (1959) traced Crouzon craniosynostosis through 4 generations of 3 different families, consistent with autosomal dominant inheritance. Pinkerton and Pinkerton (1952) observed the disorder in a mother and 2 of her 3 daughters. </p><p>Vulliamy and Normandale (1966) identified 14 cases of Crouzon disease in 4 generations of a family with several instances of male-to-male transmission. </p><p>Jones et al. (1975) found evidence of paternal age effect in new mutations for this disorder. </p><p>Rollnick (1988) described 2 brothers with Crouzon syndrome born to normal, unrelated parents, and proposed germinal mosaicism as the explanation. Kreiborg and Cohen (1990) suggested germinal mosaicism as the basis for 2 affected sibs with the same mother but different fathers. The mother and both fathers were completely normal. </p><p>Goriely et al. (2010) reported a girl with a mild form of Crouzon syndrome, confirmed by genetic analysis, whose clinically unaffected mother was found to be somatic mosaic for a heterozygous FGFR2 mutation. Levels of maternal somatic mosaicism for the mutation were estimated to range from 3.3% in hair roots to 14.1% in blood. Since her daughter inherited the same mutation, it was presumed to be present also in the mother's germline. The findings underlined the importance of parental molecular testing for accurate genetic counseling of the risk of recurrence for Crouzon syndrome, which is most often due to a de novo mutation resulting from a paternal age effect. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</div>
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<span class="mim-text-font">
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<p>In a large kindred with Crouzon craniofacial dysostosis, Preston et al. (1994) found linkage to 3 loci (D10S190, D10S209, and D10S216) spanning a 13-cM region on chromosome 10q. A maximum pairwise lod score of 4.42 at theta = 0.0 was obtained with D10S190 and the addition of a second kindred produced a combined pairwise lod score of 5.32 at theta = 0.0. In a note added in proof, Preston et al. (1994) stated that a newly available highly informative marker, D10S587, located 7 cM distal to D10S209, increased the 2-family multipoint lod score for linkage between CFD1 and D10S209 to 7.3 at theta = 0.0. Two of the genetic marker loci were within 10q25-q26. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>Reardon et al. (1994) identified mutations in the FGFR2 gene (see, e.g., 176943.0001-176943.0006) in 9 of 20 patients with Crouzon syndrome. Because no evidence of genetic heterogeneity on the basis of linkage studies had been found, Reardon et al. (1994) concluded that mutations in parts of the FGFR2 gene other than in the B exon were responsible for the remaining cases. </p><p>Jabs et al. (1994) demonstrated mutations in the FGFR2 gene in patients with Crouzon syndrome as well as in patients with Jackson-Weiss syndrome (JWS; 123150). </p><p>Charnas et al. (1989) described affected male and female second cousins, and suggested either incomplete penetrance or another molecular predisposition ('premutation'). However, Meyers et al. (1995) reported that the 2 patients described by Charnas et al. (1989) had mutations in different genes: the patient with classic Crouzon syndrome had an FGFR2 mutation (176943.0009), whereas the second cousin had Crouzon syndrome with acanthosis nigricans (612247) due to the FGFR3 A391E mutation (134934.0001). </p><p>In 22 of 41 probands with Crouzon syndrome or Pfeiffer syndrome (101600), Glaser et al. (2000) identified 11 different FGFR2 mutations. All the mutations were paternal in origin. Advanced paternal age was noted for the fathers of patients with Crouzon syndrome or Pfeiffer syndrome, compared with the fathers of control individuals. This finding extended previous information on advanced paternal age for sporadic FGFR2 mutations causing Apert syndrome (101200) and FGFR3 mutations causing achondroplasia (100800). </p><p>In a 15-year-old girl with Crouzon-like craniosynostosis and 46,XY complete gonadal dysgenesis, Bagheri-Fam et al. (2015) sequenced the candidate gene FGFR2 and identified heterozygosity for the C342S mutation (176943.0003) that had previously been identified in 1 patient diagnosed with Crouzon syndrome, 1 patient diagnosed with Jackson-Weiss syndrome (123150), and 1 patient with an 'extreme' Antley-Bixler phenotype (207410). DNA from the proband's parents was unavailable for study. Whole-exome sequencing to search for potential modifier variants influencing the proband's phenotype revealed single-nucleotide variants or indels in 193 genes. Bagheri-Fam et al. (2015) noted that although none of the changes were located in 63 genes associated with disorders of sex development, the patient did carry novel changes or indels in 35 genes that, in mice, are expressed in pre-Sertoli cells at the time of sex determination. </p>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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<span class="mim-text-font">
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<p>Cohen and Kreiborg (1992) estimated that Crouzon syndrome represents approximately 4.8% of cases of craniosynostosis at birth. The birth prevalence was estimated to be 16.5 per million births. </p>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</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>Eswarakumar et al. (2006) generated mice with a Crouzon-like craniosynostosis induced by a dominant mutation in the mesenchymal splice form of Fgfr2 (Fgfr2c) (C342Y; 176943.0001), and observed ocular proptosis, a rounded cranium, fusion of the coronal sutures, and a significantly shortened facial region. Expression of the C342Y mutation in cis with the L424A and R426A mutations of the juxtamembrane domain resulted in attenuation of signaling pathways by selective uncoupling between the docking protein Frs2a (607743) and activated Fgfr2c, thus preventing premature fusion of sutures and resulting in normal skull development. Eswarakumar et al. (2006) also demonstrated that attenuation of Fgfr signaling in a calvaria organ culture with an Fgfr inhibitor prevented premature fusion of sutures without adversely affecting the development of the skull. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</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>On the basis of an affected brother and sister with unaffected nonconsanguineous parents, Juberg and Chambers (1973) suggested the existence of a recessive form of Crouzon disease. </p><p><strong><em>Pseudo-Crouzon Syndrome</em></strong></p><p>
|
|
Franceschetti (1953) described a seemingly distinct disorder under the designation cranial dysostosis with pronounced digital impressions, or 'pseudo-Crouzon disease.' However, Gorlin (1982) concluded that it is not distinct from Crouzon disease. According to Franceschetti's appraisal, in Crouzon disease and pseudo-Crouzon disease, the pronounced digital impressions, or convolutional markings, are identical, and the essential difference is in the face: in pseudo-Crouzon disease, there is no prognathism, the nose is not curved, and divergent squint is usually lacking. Prominent forehead and some degree of exophthalmos are features. Franceschetti (1968) proposed that Walsh (1957) described a case of pseudo-Crouzon disease as Crouzon disease. None of Franceschetti's cases was familial, but Dolivo and Gillieron (1955) described affected brother and sister whose mother, grandmother, and great-grandmother were said to have oxycephaly. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Kreiborg and Jensen (1977)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<strong>FGFR2 mutation in 46,XY sex reversal with craniosynostosis.</strong>
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Charnas, L., Hofman, K. J., Rosenbaum, K. N.
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<strong>Une famille de pseudo-Crouzon.</strong>
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Eswarakumar, V. P., Ozcan, F., Lew, E. D., Bae, J. H., Tome, F., Booth, C. J., Adams, D. J., Lax, I., Schlessinger, J.
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[PubMed: 15404650]
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<strong>Cranial dysostosis with pronounced digital impressions (pseudo-Crouzon dysostosis). In: Beard, C. (ed.): Symposium on surgical and Medical Management of Congenital Anomalies of the Eye.</strong>
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Glaser, R. L., Jiang, W., Boyadjiev, S. A., Tran, A. K., Zachary, A. A., Van Maldergem, L., Johnson, D., Walsh, S., Oldridge, M., Wall, S. A., Wilkie, A. O. M., Jabs, E. W.
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<strong>Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.</strong>
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Goriely, A., Lord, H., Lim, J., Johnson, D., Lester, T., Firth, H. V., Wilkie, A. O. M.
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<strong>Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: implications for genetic testing in 'paternal age-effect' syndromes.</strong>
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Jabs, E. W., Li, X., Scott, A. F., Meyers, G., Chen, W., Eccles, M., Mao, J., Charnas, L. R., Jackson, C. E., Jaye, M.
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<strong>Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.</strong>
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Kreiborg, S., Jensen, B. L.
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Meyers, G. A., Orlow, S. J., Munro, I. R., Przylepa, K. A., Jabs, E. W.
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<strong>Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.</strong>
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<strong>Hereditary craniofacial dysplasia.</strong>
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</p>
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<li>
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<p class="mim-text-font">
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Preston, R. A., Post, J. C., Keats, B. J. B., Aston, C. E., Ferrell, R. E., Priest, J., Nouri, N., Losken, H. W., Morris, C. A., Hurtt, M. R., Mulvihill, J. J., Ehrlich, G. D.
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<strong>A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10.</strong>
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[PubMed: 7920632]
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</p>
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<p class="mim-text-font">
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Reardon, W., Winter, R. M., Rutland, P., Pulleyn, L. J., Jones, B. M., Malcolm, S.
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<strong>Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.</strong>
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[PubMed: 7987400]
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</p>
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<li>
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<p class="mim-text-font">
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Reddy, K., Hoffman, H., Armstrong, D.
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<strong>Delayed and progressive multiple suture craniosynostosis.</strong>
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Neurosurgery 26: 442-448, 1990.
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<p class="mim-text-font">
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Rollnick, B. R.
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<strong>Germinal mosaicism in Crouzon syndrome.</strong>
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[PubMed: 3359675]
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<p class="mim-text-font">
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Shiller, J. G.
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<strong>Craniofacial dysostosis of Crouzon: a case report and pedigree with emphasis on heredity.</strong>
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Pediatrics 23: 107-112, 1959.
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[PubMed: 13613871]
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<p class="mim-text-font">
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Vulliamy, D. G., Normandale, P. A.
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<strong>Cranio-facial dysostosis in a Dorset family.</strong>
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Arch. Dis. Child. 41: 375-382, 1966.
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<p class="mim-text-font">
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Walsh, F. B.
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Baltimore: Williams and Wilkins (pub.) 1957.
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
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Contributors:
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Marla J. F. O'Neill - updated : 3/18/2016<br>Cassandra L. Kniffin - updated : 1/11/2011<br>Cassandra L. Kniffin - reorganized : 9/4/2008<br>Marla J. F. O'Neill - updated : 4/17/2007<br>Orest Hurko - updated : 4/1/1996
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</span>
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</div>
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</div>
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Victor A. McKusick : 6/23/1986
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carol : 05/15/2019<br>alopez : 03/08/2018<br>carol : 08/03/2016<br>carol : 07/09/2016<br>carol : 3/22/2016<br>alopez : 3/18/2016<br>terry : 4/4/2013<br>wwang : 1/31/2011<br>ckniffin : 1/11/2011<br>carol : 5/19/2010<br>carol : 3/15/2010<br>carol : 9/4/2008<br>ckniffin : 8/22/2008<br>wwang : 4/17/2007<br>mcapotos : 5/4/2000<br>mcapotos : 5/4/2000<br>carol : 12/6/1999<br>carol : 7/1/1998<br>terry : 6/19/1998<br>jenny : 10/21/1997<br>alopez : 7/7/1997<br>mark : 6/9/1997<br>terry : 4/1/1997<br>terry : 5/6/1996<br>terry : 4/15/1996<br>terry : 4/1/1996<br>terry : 3/22/1996<br>mark : 12/6/1995<br>carol : 1/23/1995<br>pfoster : 8/18/1994<br>davew : 7/28/1994<br>mimadm : 6/25/1994<br>jason : 6/15/1994<br>warfield : 4/8/1994
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