4066 lines
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Entry
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- #101600 - PFEIFFER SYNDROME
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- OMIM
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<p>
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<span class="h4">#101600</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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 role="presentation">
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<a href="/clinicalSynopsis/101600"><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="#diagnosis">Diagnosis</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="#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 class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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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 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=(PFEIFFER SYNDROME) OR (FGFR1 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="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=234&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Pfeiffer syndrome </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12201&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Pfeiffer syndrome type 1 </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12202&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Pfeiffer syndrome type 2 </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12203&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Pfeiffer syndrome type 3 </a></div>
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</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/5702" 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/pfeiffer-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=101600[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=710" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Pfeiffer syndrome</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93258" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Pfeiffer syndrome type 1</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93259" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Pfeiffer syndrome type 2</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93260" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Pfeiffer syndrome type 3</a></div>
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</div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/e6729d00-aad2-4f60-a4dd-26db5b58dee1/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:14705" 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/101600" 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:14705" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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</div>
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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="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:101600" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 70410008<br />
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|
|
|
|
|
|
|
<strong>ORPHA:</strong> 710, 93258, 93259, 93260<br />
|
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|
|
|
|
<strong>DO:</strong> 14705<br />
|
|
|
|
|
|
">ICD+</a>
|
|
|
|
</div>
|
|
<div>
|
|
<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
101600
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
PFEIFFER SYNDROME
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
|
|
<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
ACROCEPHALOSYNDACTYLY, TYPE V; ACS5<br />
|
|
ACS V<br />
|
|
NOACK SYNDROME
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="includedTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/8/211?start=-3&limit=10&highlight=211">
|
|
8p11.23
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Pfeiffer syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/101600"> 101600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
FGFR1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/136350"> 136350 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/10/618?start=-3&limit=10&highlight=618">
|
|
10q26.13
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Pfeiffer syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/101600"> 101600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
FGFR2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176943"> 176943 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/10/618?start=-3&limit=10&highlight=618">
|
|
10q26.13
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Craniofacial-skeletal-dermatologic dysplasia
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/101600"> 101600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
FGFR2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176943"> 176943 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/101600" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/101600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/101600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal 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>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Turribrachycephaly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857484&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857484</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000244" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000244</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000244" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000244</a>]</span><br /> -
|
|
Clover-leaf skull (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805323&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805323</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 /> -
|
|
Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Downslanting palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246800008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246800008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423110&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423110</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span><br /> -
|
|
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 /> -
|
|
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 />
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</span>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Small nose <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249310005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249310005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426414&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426414</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003196" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003196</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003196" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003196</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=25661c4279536e7705f328dbb0964878" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Nose,Short-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=25661c4279536e7705f328dbb0964878" 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 /> -
|
|
Low nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836542&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836542</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Nasal_Bridge,Depressed-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17" 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 /> -
|
|
Choanal atresia or stenosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863397&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863397</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>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- High-arched palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span><br />
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</span>
|
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
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</div>
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|
</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Airways </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cartilaginous trachea <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863363&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863363</a>]</span><br /> -
|
|
Laryngo-, tracheo-, bronchomalacia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863364&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863364</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</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 with or without sagittal suture) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863359&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863359</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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Radiohumeral synostosis of elbow <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863360&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863360</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003041" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003041</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003041" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003041</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
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- Broad thumb <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249773003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249773003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426891&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426891</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011304" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011304</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011304" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011304</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=eae6f811e3f6c956db075b9f84f69df5" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/_RSGAykd6BDbQtzuAqvpxtFbBNMMsvXr-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=eae6f811e3f6c956db075b9f84f69df5" 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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Partial syndactyly of fingers and toes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863361&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863361</a>]</span><br /> -
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Brachymesophalangy of hands and feet <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863362</a>]</span><br />
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<em> Feet </em>
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- Broad great toe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867131&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867131</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010055" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010055</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010055" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010055</a>]</span><br />
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<strong> NEUROLOGIC </strong>
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Hydrocephalus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230745008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230745008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020255&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020255</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span><br /> -
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Arnold-Chiari malformation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253184003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253184003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q07.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q07.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003803&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003803</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002308" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002308</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002308" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002308</a>]</span><br />
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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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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- Three subtypes of Pfeiffer syndrome have been described - Type 1: 'mild' autosomal dominant<br /> -
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Type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic<br /> -
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Type 3: craniosynostosis, early demise, sporadic<br /> -
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De novo mutation in most cases<br />
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</span>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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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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- Caused by mutation in the fibroblast growth factor receptor-1 gene (FGFR1, <a href="/entry/136350#0001">136350.0001</a>)<br /> -
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Caused by mutation in the fibroblast growth factor receptor-2 gene (FGFR2, <a href="/entry/176943#0012">176943.0012</a>)<br />
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</span>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<div>
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<br />
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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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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<strong>TEXT</strong>
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</h4>
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<p>A number sign (#) is used with this entry because Pfeiffer syndrome can be caused by heterozygous mutations in the FGFR1 gene (<a href="/entry/136350">136350</a>) on chromosome 8 or in the FGFR2 gene (<a href="/entry/176943">176943</a>) on chromosome 10. Some families do not map to either of these loci by linkage studies, suggesting additional genetic heterogeneity.</p>
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<br />
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<strong>Description</strong>
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<p>Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (<a href="#4" class="mim-tip-reference" title="Cohen, M. M., Jr. <strong>Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis.</strong> Am. J. Med. Genet. 45: 300-307, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8434615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8434615</a>] [<a href="https://doi.org/10.1002/ajmg.1320450305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8434615">Cohen, 1993</a>). <a href="#3" class="mim-tip-reference" title="Cohen, M. M., Jr., Barone, C. M. <strong>Reply to Dr. Winter. (Letter)</strong> Am. J. Med. Genet. 49: 358-359, 1994."None>Cohen and Barone (1994)</a> further tabulated the findings in the 3 types of Pfeiffer syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8434615" 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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<br />
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<strong>Clinical Features</strong>
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<p><a href="#19" class="mim-tip-reference" title="Pfeiffer, R. A. <strong>Dominant erbliche Akrocephalosyndaktylie.</strong> Z. Kinderheilk. 90: 301-320, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14316612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14316612</a>]" pmid="14316612">Pfeiffer (1964)</a> found 8 persons affected in 3 generations, with 2 instances of male-to-male transmission. The striking feature was broad, short thumbs and big toes. The proximal phalanx of the thumb was either triangular or trapezoid (and occasionally fused with the distal phalanx) so that the thumb pointed outward (i.e., away from the other digits). <a href="#13" class="mim-tip-reference" title="Martsolf, J. T., Cracco, J. B., Carpenter, G. G., O'Hara, A. E. <strong>Pfeiffer syndrome: an unusual type of acrocephalosyndactyly with broad thumbs and great toes.</strong> Am. J. Dis. Child. 121: 257-262, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5551881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5551881</a>]" pmid="5551881">Martsolf et al. (1971)</a> described the case of an affected boy whose mother and maternal half brother were said to be affected also. Another pedigree consistent with autosomal dominant inheritance was reported by <a href="#28" class="mim-tip-reference" title="Saldino, R. M., Steinbach, H. L., Epstein, C. J. <strong>Familial acrocephalosyndactyly (Pfeiffer syndrome).</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 116: 609-622, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4641185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4641185</a>] [<a href="https://doi.org/10.2214/ajr.116.3.609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4641185">Saldino et al. (1972)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4641185+5551881+14316612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Noack, M. <strong>Ein Beitrag zum Krankheitsbild der Akrozephalosyndaktylie (Apert).</strong> Arch. Kinderheilk. 160: 168-171, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14427428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14427428</a>]" pmid="14427428">Noack (1959)</a> reported a 43-year-old man and his 11-month-old daughter, both of whom exhibited acrocephaly and polysyndactyly. Enlarged thumbs and great toes with duplication of the latter (preaxial polydactyly) were described, as well as syndactyly. Intelligence was apparently normal. Follow-up of Noack's kindred by Pfeiffer (<a href="#19" class="mim-tip-reference" title="Pfeiffer, R. A. <strong>Dominant erbliche Akrocephalosyndaktylie.</strong> Z. Kinderheilk. 90: 301-320, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14316612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14316612</a>]" pmid="14316612">1964</a>, <a href="#20" class="mim-tip-reference" title="Pfeiffer, R. A. <strong>Associated deformities of the head and hands.</strong> Birth Defects Orig. Art. Ser. V(3): 18-34, 1969. Note: Case 3."None>1969</a>) indicated that the disorder is the same as acrocephalosyndactyly type V. See HISTORY section. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14427428+14316612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Baraitser, M., Bowen-Bravery, M., Saldana-Garcia, P. <strong>Pitfalls of genetic counselling in Pfeiffer's syndrome.</strong> J. Med. Genet. 17: 250-256, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7205899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7205899</a>] [<a href="https://doi.org/10.1136/jmg.17.4.250" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7205899">Baraitser et al. (1980)</a> reported a kindred particularly instructive as to the range of variability. The proband had the full-blown syndrome, whereas 8 persons in 4 sibships of the previous 3 generations had large halluces and partial syndactyly of the toes (mainly toes 2 and 3). The variability of expression was also illustrated by <a href="#37" class="mim-tip-reference" title="Vanek, J., Losan, F. <strong>Pfeiffer's type of acrocephalosyndactyly in two families.</strong> J. Med. Genet. 19: 289-292, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7120318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7120318</a>] [<a href="https://doi.org/10.1136/jmg.19.4.289" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7120318">Vanek and Losan (1982)</a>. <a href="#11" class="mim-tip-reference" title="Kroczek, R. A., Muhlbauer, W., Zimmermann, I. <strong>Cloverleaf skull associated with Pfeiffer syndrome: pathology and management.</strong> Europ. J. Pediat. 145: 442-445, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3792393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3792393</a>] [<a href="https://doi.org/10.1007/BF00439257" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3792393">Kroczek et al. (1986)</a> described Kleblattschaedel in association with Pfeiffer syndrome. <a href="#22" class="mim-tip-reference" title="Rasmussen, S. A., Frias, J. L. <strong>Mild expression of the Pfeiffer syndrome.</strong> Clin. Genet. 33: 5-10, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3342547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3342547</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1988.tb04258.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3342547">Rasmussen and Frias (1988)</a> described a girl with severe manifestations of Pfeiffer syndrome. The case was thought to represent a new mutation until the mother was examined in detail and found to show abnormalities of the right thumb consistent with mild expression of the Pfeiffer syndrome. The mother was thought to have mild midfacial hypoplasia. The possibility of mosaicism in the mother seems strong. The mother's father was 40 years old at the time of her birth. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3792393+3342547+7205899+7120318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#33" class="mim-tip-reference" title="Stone, P., Trevenen, C. L., Mitchell, I., Rudd, N. <strong>Congenital tracheal stenosis in Pfeiffer syndrome.</strong> Clin. Genet. 38: 145-148, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2208766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2208766</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1990.tb03563.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2208766">Stone et al. (1990)</a> described an infant with the Pfeiffer syndrome in whom the trachea showed replacement of the cartilaginous rings by a solid cartilaginous plate extending the full length of the trachea and beyond the carina. This resulted in tracheal stenosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2208766" 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="#32" class="mim-tip-reference" title="Soekarman, D., Fryns, J. P., van den Berghe, H. <strong>Pfeiffer acrocephalosyndactyly syndrome in mother and son with cloverleaf skull anomaly in the child.</strong> Genetic Counseling 3: 217-220, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1472357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1472357</a>]" pmid="1472357">Soekarman et al. (1992)</a> described classic Pfeiffer syndrome in mother and son. The infant son had cloverleaf skull anomaly. The development in the child after surgery appeared to be normal, indicating that all children with the cloverleaf skull abnormality do not have a dire prognosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1472357" 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="#36" class="mim-tip-reference" title="Vallino-Napoli, L. D. <strong>Audiologic and otologic characteristics of Pfeiffer syndrome.</strong> Cleft Palate Craniofac. J. 33: 524-529, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8939381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8939381</a>] [<a href="https://doi.org/10.1597/1545-1569_1996_033_0524_aaocop_2.3.co_2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8939381">Vallino-Napoli (1996)</a> reviewed the audiologic and otologic features of 9 patients with Pfeiffer syndrome, ranging in age from 2 to 12 years. Hearing loss was found in 8 of the 9 patients. The degree of loss varied but was moderate to severe in most patients. Seven patients had conductive hearing loss and 1 had mixed loss; none had purely sensorineural loss. Four patients had a history of middle ear effusion. Primary CT findings consisted of stenosis and/or atresia of the external auditory canal, hypoplasia of the middle ear cavity, and an enlarged middle ear cavity. The ossicles were hypoplastic in a few cases. With 1 exception, inner ear anatomy was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8939381" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Robin, N. H., Scott, J. A., Arnold, J. E., Goldstein, J. A., Shilling, B. B., Marion, R. W., Cohen, M. M., Jr. <strong>Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: implications for classification.</strong> Am. J. Med. Genet. 75: 240-244, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9475589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9475589</a>]" pmid="9475589">Robin et al. (1998)</a> reported the clinical course of 7 children with Pfeiffer syndrome type 3. Although all of them had severe manifestations, development was essentially normal in 3, mildly delayed in 2, and moderately delayed in 1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9475589" 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>Craniofacial-Skeletal-Dermatologic Dysplasia</em></strong></p><p>
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<a href="#31" class="mim-tip-reference" title="Shotelersuk, V., Ittiwut, C., Srivuthana, S., Mahatumarat, C., Lerdlum, S., Wacharasindhu, S. <strong>Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2.</strong> Am. J. Med. Genet. 113: 4-8, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12400058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12400058</a>] [<a href="https://doi.org/10.1002/ajmg.10449" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12400058">Shotelersuk et al. (2002)</a> described a 15-year-old Thai boy with an unspecified craniosynostosis syndrome characterized by multiple suture craniosynostoses, a persistent anterior fontanel, corneal scleralization, choanal stenosis, atresia of the auditory meatus, broad thumbs and great toes, severe scoliosis, acanthosis nigricans, hydrocephalus, and mental retardation. Radiography revealed bony ankyloses of vertebral bodies at T9-T12 as well as ankyloses of humeral-radial-ulnar joints, intercarpal joints, distal interphalangeal joints of the fifth fingers, fibulo-tibial joints, intertarsal joints, and distal interphalangeal joints of the first toes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12400058" 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="#10" class="mim-tip-reference" title="Gonzales, M., Heuertz, S., Martinovic, J., Delahaye, S., Bazin, A., Loget, P., Pasquier, L., Le Merrer, M., Bonaventure, J. <strong>Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation. (Letter)</strong> Clin. Genet. 68: 179-181, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15996217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15996217</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2005.00477.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15996217">Gonzales et al. (2005)</a> reported 3 fetuses diagnosed prenatally with severe Pfeiffer syndrome, who all had the same heterozygous mutation in the FGFR2 gene (S351C; <a href="/entry/176943#0024">176943.0024</a>). All 3 patients had a cartilaginous tracheal sleeve at autopsy with no visible tracheal rings. In addition, all had vertebral anomalies, including cervical, thoracic, and lumbar fusion, and sacrococcygeal eversion was also present in 2 cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15996217" 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>Pfeiffer syndrome is an autosomal dominant disorder (<a href="#19" class="mim-tip-reference" title="Pfeiffer, R. A. <strong>Dominant erbliche Akrocephalosyndaktylie.</strong> Z. Kinderheilk. 90: 301-320, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14316612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14316612</a>]" pmid="14316612">Pfeiffer, 1964</a>; <a href="#28" class="mim-tip-reference" title="Saldino, R. M., Steinbach, H. L., Epstein, C. J. <strong>Familial acrocephalosyndactyly (Pfeiffer syndrome).</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 116: 609-622, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4641185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4641185</a>] [<a href="https://doi.org/10.2214/ajr.116.3.609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4641185">Saldino et al., 1972</a>). <a href="#4" class="mim-tip-reference" title="Cohen, M. M., Jr. <strong>Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis.</strong> Am. J. Med. Genet. 45: 300-307, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8434615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8434615</a>] [<a href="https://doi.org/10.1002/ajmg.1320450305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8434615">Cohen (1993)</a> stated that 7 Pfeiffer syndrome pedigrees (three 3-generation and four 2-generation) had been reported, in addition to at least a dozen sporadic cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4641185+8434615+14316612" 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 study of sporadic cases of Crouzon syndrome and Pfeiffer syndrome, <a href="#8" 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> used 4 intragenic polymorphisms to screen a total of 41 families. Of these, 22 (11 for each syndrome) were informative. They found 11 different mutations in the 22 families. By molecular means they proved that the origin of these different mutations was paternal in all informative cases analyzed. Advanced paternal age was noted for the fathers of patients with Crouzon syndrome or Pfeiffer syndrome, compared with the fathers of control individuals (34.50 +/- 7.65 years vs 30.45 +/- 1.28 years, P less than 0.01). The data extended previous information on advanced paternal age for sporadic FGFR2 mutations causing Apert syndrome and FGFR3 mutations causing achondroplasia. <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>
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<a href="#23" class="mim-tip-reference" title="Robin, N. H., Feldman, G. J., Mitchell, H. F., Lorenz, P., Wilroy, R. S., Zackai, E. H., Allanson, J. E., Reich, E. W., Pfeiffer, R. A., Clarke, L. A., Warman, M. L., Mulliken, J. B., Brueton, L. A., Winter, R. M., Price, R. A., Gasser, D. L., Muenke, M. <strong>Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity.</strong> Hum. Molec. Genet. 3: 2153-2158, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7881412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7881412</a>] [<a href="https://doi.org/10.1093/hmg/3.12.2153" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7881412">Robin et al. (1994)</a> demonstrated linkage of markers from chromosome 8 in some Pfeiffer syndrome families. By performing fluorescence in situ hybridization on artificial chromosomes (YACs) that contained the linked DNA markers, they localized 1 gene for Pfeiffer syndrome to the pericentromeric region of chromosome 8. Genetic heterogeneity in the syndrome was demonstrated by exclusion of close linkage in other families. Because FGFR1 had been mapped to 8p12-p11.2, it became a strong candidate gene for Pfeiffer syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7881412" 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>Chromosome 10</em></strong></p><p>
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By linkage analysis in families with Pfeiffer syndrome unlinked to chromosome 8, including the family originally reported by <a href="#19" class="mim-tip-reference" title="Pfeiffer, R. A. <strong>Dominant erbliche Akrocephalosyndaktylie.</strong> Z. Kinderheilk. 90: 301-320, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14316612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14316612</a>]" pmid="14316612">Pfeiffer (1964)</a>, <a href="#30" class="mim-tip-reference" title="Schell, U., Hehr, A., Feldman, G. J., Robin, N. H., Zackai, E. H., de Die-Smulders, C., Viskochil, D. H., Stewart, J. M., Wolff, G., Ohashi, H., Price, R. A., Cohen, M. M., Jr., Muenke, M. <strong>Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.</strong> Hum. Molec. Genet. 4: 323-328, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7795583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7795583</a>] [<a href="https://doi.org/10.1093/hmg/4.3.323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7795583">Schell et al. (1995)</a> found linkage to chromosome 10q between markers D10S190 and D10S587. Crouzon syndrome (<a href="/entry/123500">123500</a>) had previously been linked to this region and was found to be caused by mutation in the FGFR2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7795583+14316612" 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="#15" class="mim-tip-reference" title="Muenke, M., Schell, U., Hehr, A., Robin, N. H., Losken, H. W., Schinzel, A., Pulleyn, L. J., Rutland, P., Reardon, W., Malcolm, S., Winter, R. M. <strong>A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.</strong> Nature Genet. 8: 269-274, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7874169/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7874169</a>] [<a href="https://doi.org/10.1038/ng1194-269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7874169">Muenke et al. (1994)</a> identified a specific mutation in the FGFR1 gene (P252R; <a href="/entry/136350#0001">136350.0001</a>) in all affected members of 5 unrelated Pfeiffer syndrome families linked to chromosome 8. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7874169" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Rossi, M., Jones, R. L., Norbury, G., Bloch-Zupan, A., Winter, R. <strong>The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation.</strong> Clin. Dysmorph. 12: 269-274, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14564217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14564217</a>] [<a href="https://doi.org/10.1097/00019605-200310000-00012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14564217">Rossi et al. (2003)</a> reported 4 affected families with the common FGFR1 P252R mutation, all of whom demonstrated characteristic malformation of the feet but variable or absent skull involvement. The feet have the appearance of a broad and flattened hallux that is usually medially deviated, and there is syndactyly of the second and third toes. The authors suggested that this characteristic appearance of the feet, even in an isolated case without craniosynostosis, should prompt a search for the P252R mutation in FGFR1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14564217" 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>Pfeiffer Syndrome with Mutations in the FGFR2 Gene</em></strong></p><p>
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<a href="#30" class="mim-tip-reference" title="Schell, U., Hehr, A., Feldman, G. J., Robin, N. H., Zackai, E. H., de Die-Smulders, C., Viskochil, D. H., Stewart, J. M., Wolff, G., Ohashi, H., Price, R. A., Cohen, M. M., Jr., Muenke, M. <strong>Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.</strong> Hum. Molec. Genet. 4: 323-328, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7795583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7795583</a>] [<a href="https://doi.org/10.1093/hmg/4.3.323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7795583">Schell et al. (1995)</a> identified mutations in the FGFR2 gene in patients with Pfeiffer syndrome linked to chromosome 10. <a href="#12" class="mim-tip-reference" title="Lajeunie, E., Ma, H. W., Bonaventure, J., Munnich, A., Le Merrer, M., Renier, D. <strong>FGFR2 mutations in Pfeiffer syndrome. (Letter)</strong> Nature Genet. 9: 108, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7719333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7719333</a>] [<a href="https://doi.org/10.1038/ng0295-108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7719333">Lajeunie et al. (1995)</a> and <a href="#27" class="mim-tip-reference" title="Rutland, P., Pulleyn, L. J., Reardon, W., Baraitser, M., Hayward, R., Jones, B., Malcolm, S., Winter, R. M., Oldridge, M., Slaney, S. F., Poole, M. D., Wilkie, A. O. M. <strong>Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.</strong> Nature Genet. 9: 173-176, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7719345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7719345</a>] [<a href="https://doi.org/10.1038/ng0295-173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7719345">Rutland et al. (1995)</a> identified mutations in the FGFR2 gene in some patients with Pfeiffer syndrome. <a href="#12" class="mim-tip-reference" title="Lajeunie, E., Ma, H. W., Bonaventure, J., Munnich, A., Le Merrer, M., Renier, D. <strong>FGFR2 mutations in Pfeiffer syndrome. (Letter)</strong> Nature Genet. 9: 108, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7719333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7719333</a>] [<a href="https://doi.org/10.1038/ng0295-108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7719333">Lajeunie et al. (1995)</a> described FGFR2 mutations in 1 sporadic case and 1 familial form of Pfeiffer syndrome. <a href="#27" class="mim-tip-reference" title="Rutland, P., Pulleyn, L. J., Reardon, W., Baraitser, M., Hayward, R., Jones, B., Malcolm, S., Winter, R. M., Oldridge, M., Slaney, S. F., Poole, M. D., Wilkie, A. O. M. <strong>Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.</strong> Nature Genet. 9: 173-176, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7719345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7719345</a>] [<a href="https://doi.org/10.1038/ng0295-173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7719345">Rutland et al. (1995)</a> reported point mutations in FGFR2 in 7 sporadic Pfeiffer syndrome patients; 6 of these patients shared 2 missense mutations that had also been reported in Crouzon syndrome (see <a href="/entry/176943#0001">176943.0001</a> and <a href="/entry/176943#0002">176943.0002</a>). The Crouzon and Pfeiffer phenotypes usually 'breed true' within families and the finding of identical mutations in unrelated individuals giving different phenotypes was a highly unexpected observation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7719333+7795583+7719345" 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="Bellus, G. A., Gaudenz, K., Zackai, E. H., Clarke, L. A., Szabo, J., Francomano, C. A., Muenke, M. <strong>Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.</strong> Nature Genet. 14: 174-176, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8841188/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8841188</a>] [<a href="https://doi.org/10.1038/ng1096-174" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8841188">Bellus et al. (1996)</a> described a pro250-to-arg mutation in the extracellular domain of the FGFR3 gene (<a href="/entry/134934#0014">134934.0014</a>) in 10 unrelated families with dominant craniosynostosis syndromes. This mutation (749C-G) occurs precisely at the position in FGFR3 analogous to that of mutations in FGFR1 (P252R; <a href="/entry/136350#0001">136350.0001</a>) and FGFR2 (P253R; <a href="/entry/176943#0011">176943.0011</a>) reported in Pfeiffer syndrome and Apert syndrome, respectively. The FGFR mutations in Pfeiffer syndrome and nonsyndromic craniosynostosis were reviewed in detail. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8841188" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with severe Pfeiffer phenotype, <a href="#34" class="mim-tip-reference" title="Tartaglia, M., Valeri, S., Velardi, F., Di Rocco, C., Battaglia, P. A. <strong>Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome.</strong> Hum. Genet. 99: 602-606, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9150725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9150725</a>] [<a href="https://doi.org/10.1007/s004390050413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9150725">Tartaglia et al. (1997)</a> reported a de novo G-to-C transversion in exon IIIa of the FGFR2 gene, resulting in a trp-to-cys missense mutation at codon 290 (T290C; <a href="/entry/176943#0019">176943.0019</a>). The patient had cloverleaf skull deformity as well as the other typical ocular, hand, and foot anomalies seen in Pfeiffer syndrome. Missense mutations at codon 290 of FGFR2 had been reported previously in Crouzon syndrome, but not in Pfeiffer syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9150725" 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="#29" class="mim-tip-reference" title="Schaefer, F., Anderson, C., Can, B., Say, B. <strong>Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case.</strong> Am. J. Med. Genet. 75: 252-255, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9475591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9475591</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19980123)75:3<252::aid-ajmg4>3.0.co;2-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9475591">Schaefer et al. (1998)</a> likewise found a T290C mutation in a case of Pfeiffer syndrome type 2 (<a href="/entry/176943#0032">176943.0032</a>). The infant had cloverleaf skull, proptosis, radioulnar synostosis, and broad thumbs and great toes; however, there were many overlapping findings with Antley-Bixler syndrome (<a href="/entry/207410">207410</a>). Trp290 appears to be a major hotspot in the FGFR2 gene; a trp290-to-arg substitution was found by <a href="#14" class="mim-tip-reference" title="Meyers, G. A., Day, D., Goldberg, R., Daentl, D. L., Przylepa, K. A., Abrams, L. J., Graham, J. M., Jr., Feingold, M., Moeschler, J. B., Rawnsley, E., Scott, A. F., Jabs, E. W. <strong>FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.</strong> Am. J. Hum. Genet. 58: 491-498, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644708</a>]" pmid="8644708">Meyers et al. (1996)</a> in classic cases of Crouzon syndrome, and a trp290-to-gly mutation was found by <a href="#18" class="mim-tip-reference" title="Park, W.-J., Meyers, G. A., Li, X., Theda, C., Day, D., Orlow, S. J., Jones, M. C., Jabs, E. W. <strong>Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.</strong> Hum. Molec. Genet. 4: 1229-1233, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8528214/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8528214</a>] [<a href="https://doi.org/10.1093/hmg/4.7.1229" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8528214">Park et al. (1995)</a> in an atypically mild form of Crouzon syndrome. <a href="#29" class="mim-tip-reference" title="Schaefer, F., Anderson, C., Can, B., Say, B. <strong>Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case.</strong> Am. J. Med. Genet. 75: 252-255, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9475591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9475591</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19980123)75:3<252::aid-ajmg4>3.0.co;2-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9475591">Schaefer et al. (1998)</a> pictured (their Fig. 2) the sequence in the region of the 2 FGFR2 hotspots, trp290 and cys342, defining the immunoglobulin-like domain of exons 7 and 9. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8644708+9475591+8528214" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Plomp, A. S., Hamel, B. C. J., Cobben, J. M., Verloes, A., Offermans, J. P. M., Lajeunie, E., Fryns, J. P., de Die-Smulders, C. E. M. <strong>Pfeiffer syndrome type 2: further delineation and review of the literature.</strong> Am. J. Med. Genet. 75: 245-251, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9475590/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9475590</a>]" pmid="9475590">Plomp et al. (1998)</a> reported 5 unrelated patients, 3 boys and 2 girls, with Pfeiffer syndrome type 2. Most patients with this form died shortly after birth. Causes of death included pulmonary problems, brain abnormalities, prematurity, and postoperative complications. Two of the patients showed the cys342-to-arg mutation (<a href="/entry/176943#0002">176943.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9475590" 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>Craniofacial-Skeletal-Dermatologic Dysplasia</em></strong></p><p>
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In a 15-year-old Thai boy with a craniofacial-skeletal-dermatologic dysplasia, <a href="#31" class="mim-tip-reference" title="Shotelersuk, V., Ittiwut, C., Srivuthana, S., Mahatumarat, C., Lerdlum, S., Wacharasindhu, S. <strong>Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2.</strong> Am. J. Med. Genet. 113: 4-8, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12400058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12400058</a>] [<a href="https://doi.org/10.1002/ajmg.10449" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12400058">Shotelersuk et al. (2002)</a> identified heterozygosity for an 870G-T transversion in the FGFR2 gene, resulting in a W290C substitution in the extracellular domain of the protein gene (<a href="/entry/176943#0032">176943.0032</a>). The same mutation had been reported by <a href="#29" class="mim-tip-reference" title="Schaefer, F., Anderson, C., Can, B., Say, B. <strong>Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case.</strong> Am. J. Med. Genet. 75: 252-255, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9475591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9475591</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19980123)75:3<252::aid-ajmg4>3.0.co;2-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9475591">Schaefer et al. (1998)</a> in a case of Pfeiffer syndrome with overlapping features of Antley-Bixler syndrome (<a href="/entry/207410">207410</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9475591+12400058" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The disorder described by <a href="#17" class="mim-tip-reference" title="Noack, M. <strong>Ein Beitrag zum Krankheitsbild der Akrozephalosyndaktylie (Apert).</strong> Arch. Kinderheilk. 160: 168-171, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14427428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14427428</a>]" pmid="14427428">Noack (1959)</a> was listed in an early edition of MIM as 'acrocephalopolysyndactyly type I (ACPS I)' and was thought to differ from Apert syndrome (<a href="/entry/101200">101200</a>) by the presence of polydactyly as an additional feature. In this early classification, Carpenter syndrome (<a href="/entry/201000">201000</a>) was designated 'acrocephalopolysyndactyly II (ACPS II).' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14427428" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#25" class="mim-tip-reference" title="Robinow, M., Sorauf, T. J. <strong>Acrocephalopolysyndactyly, type Noack, in a large kindred.</strong> Birth Defects Orig. Art. Ser. XI(5): 99-106, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1240778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1240778</a>]" pmid="1240778">Robinow and Sorauf (1975)</a> described an extensively affected kindred with what they called 'Noack syndrome.' The disorder in the family reported by <a href="#25" class="mim-tip-reference" title="Robinow, M., Sorauf, T. J. <strong>Acrocephalopolysyndactyly, type Noack, in a large kindred.</strong> Birth Defects Orig. Art. Ser. XI(5): 99-106, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1240778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1240778</a>]" pmid="1240778">Robinow and Sorauf (1975)</a> is discussed in <a href="/entry/180750">180750</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1240778" 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="#Cremers1981" class="mim-tip-reference" title="Cremers, C. W. R. J. <strong>Hearing loss in Pfeiffer's syndrome.</strong> Int. J. Pediat. Otorhinolaryng. 3: 343-353, 1981.">Cremers (1981)</a>; <a href="#Eastman1978" class="mim-tip-reference" title="Eastman, J. R., Escobar, V., Bixler, D. <strong>Linkage analysis in dominant acrocephalosyndactyly.</strong> J. Med. Genet. 15: 292-293, 1978.">Eastman et al. (1978)</a>; <a href="#Escobar1977" class="mim-tip-reference" title="Escobar, V., Bixler, D. <strong>The acrocephalosyndactyly syndrome: a metacarpophalangeal pattern profile analysis.</strong> Clin. Genet. 11: 295-305, 1977.">Escobar and Bixler (1977)</a>; <a href="#Gnamey1971" class="mim-tip-reference" title="Gnamey, D., Farriaux, J.-P. <strong>Syndrome dominant associant polysyndactylie, pouces en spatule, anomalies facials et retard mental (une forme particuliere de l'acrocephalo-polysyndactylie de type Noack).</strong> J. Genet. Hum. 19: 299-316, 1971.">Gnamey and Farriaux (1971)</a>; <a href="#Naveh1976" class="mim-tip-reference" title="Naveh, Y., Friedman, A. <strong>Pfeiffer syndrome: report of a family and review of the literature.</strong> J. Med. Genet. 13: 277-280, 1976.">Naveh and Friedman (1976)</a>; <a href="#Temtamy1969" class="mim-tip-reference" title="Temtamy, S., McKusick, V. A. <strong>Synopsis of hand malformations with particular emphasis on genetic factors.</strong> Birth Defects Orig. Art. Ser. V(3): 125-184, 1969.">Temtamy and
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McKusick (1969)</a>
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1136/jmg.17.4.250" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng1096-174" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320450305" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0165-5876(81)90059-8" target="_blank">Full Text</a>]
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<strong>Linkage analysis in dominant acrocephalosyndactyly.</strong>
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[<a href="https://doi.org/10.1136/jmg.15.4.292" target="_blank">Full Text</a>]
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<strong>The acrocephalosyndactyly syndrome: a metacarpophalangeal pattern profile analysis.</strong>
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[<a href="https://doi.org/10.1111/j.1399-0004.1977.tb01316.x" target="_blank">Full Text</a>]
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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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[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://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'})">related citations</a>]
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[<a href="https://doi.org/10.1086/302831" target="_blank">Full Text</a>]
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<a id="Gnamey1971" class="mim-anchor"></a>
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Gnamey, D., Farriaux, J.-P.
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<strong>Syndrome dominant associant polysyndactylie, pouces en spatule, anomalies facials et retard mental (une forme particuliere de l'acrocephalo-polysyndactylie de type Noack).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5152131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5152131</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5152131" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00439257" target="_blank">Full Text</a>]
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<a id="Naveh1976" class="mim-anchor"></a>
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<div class="">
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Naveh, Y., Friedman, A.
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[<a href="https://doi.org/10.1136/jmg.13.4.277" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1988.tb04258.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/3.12.2153" target="_blank">Full Text</a>]
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<div class="">
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<p class="mim-text-font">
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Temtamy, S., McKusick, V. A.
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<strong>Synopsis of hand malformations with particular emphasis on genetic factors.</strong>
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Birth Defects Orig. Art. Ser. V(3): 125-184, 1969.
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</p>
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</li>
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<li>
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<a id="36" class="mim-anchor"></a>
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<a id="Vallino-Napoli1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vallino-Napoli, L. D.
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<strong>Audiologic and otologic characteristics of Pfeiffer syndrome.</strong>
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Cleft Palate Craniofac. J. 33: 524-529, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8939381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8939381</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8939381" 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_1996_033_0524_aaocop_2.3.co_2" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="37" class="mim-anchor"></a>
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<a id="Vanek1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vanek, J., Losan, F.
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<strong>Pfeiffer's type of acrocephalosyndactyly in two families.</strong>
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J. Med. Genet. 19: 289-292, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7120318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7120318</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7120318" 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/jmg.19.4.289" target="_blank">Full Text</a>]
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</p>
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</ol>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 5/24/2006
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Siobhan M. Dolan - updated : 1/29/2004<br>Victor A. McKusick - updated : 3/17/1998<br>Ada Hamosh - updated : 7/10/1997<br>Victor A. McKusick - updated : 5/16/1997
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</span>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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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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carol : 11/15/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/29/2024<br>carol : 08/11/2017<br>carol : 08/10/2017<br>mcolton : 03/04/2015<br>alopez : 9/9/2014<br>wwang : 6/10/2011<br>terry : 8/9/2010<br>carol : 3/15/2010<br>carol : 3/15/2010<br>wwang : 5/31/2006<br>terry : 5/24/2006<br>terry : 6/2/2004<br>carol : 1/29/2004<br>alopez : 12/12/2002<br>mcapotos : 5/3/2000<br>dkim : 12/11/1998<br>carol : 7/1/1998<br>terry : 6/19/1998<br>alopez : 5/14/1998<br>alopez : 3/25/1998<br>terry : 3/17/1998<br>jenny : 10/27/1997<br>jenny : 10/21/1997<br>alopez : 7/21/1997<br>alopez : 7/21/1997<br>alopez : 7/21/1997<br>alopez : 5/19/1997<br>terry : 5/16/1997<br>mark : 10/5/1996<br>terry : 10/2/1996<br>carol : 8/20/1996<br>mark : 3/3/1996<br>mark : 3/3/1996<br>terry : 2/27/1996<br>mark : 8/11/1995<br>carol : 2/13/1995<br>terry : 1/31/1995<br>warfield : 4/7/1994<br>mimadm : 3/11/1994<br>carol : 10/14/1993
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</span>
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 101600
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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PFEIFFER 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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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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ACROCEPHALOSYNDACTYLY, TYPE V; ACS5<br />
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ACS V<br />
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NOACK SYNDROME
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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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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED
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</span>
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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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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 70410008;
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<strong>ORPHA:</strong> 710, 93258, 93259, 93260;
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<strong>DO:</strong> 14705;
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</span>
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</p>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>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 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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8p11.23
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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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Pfeiffer 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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101600
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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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Autosomal dominant
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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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3
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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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FGFR1
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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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136350
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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10q26.13
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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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Pfeiffer 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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101600
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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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Autosomal dominant
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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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3
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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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176943
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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10q26.13
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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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Craniofacial-skeletal-dermatologic dysplasia
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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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101600
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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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Autosomal dominant
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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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3
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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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176943
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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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<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>TEXT</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>A number sign (#) is used with this entry because Pfeiffer syndrome can be caused by heterozygous mutations in the FGFR1 gene (136350) on chromosome 8 or in the FGFR2 gene (176943) on chromosome 10. Some families do not map to either of these loci by linkage studies, suggesting additional genetic heterogeneity.</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>Description</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>Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome. </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>Clinical Features</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>Pfeiffer (1964) found 8 persons affected in 3 generations, with 2 instances of male-to-male transmission. The striking feature was broad, short thumbs and big toes. The proximal phalanx of the thumb was either triangular or trapezoid (and occasionally fused with the distal phalanx) so that the thumb pointed outward (i.e., away from the other digits). Martsolf et al. (1971) described the case of an affected boy whose mother and maternal half brother were said to be affected also. Another pedigree consistent with autosomal dominant inheritance was reported by Saldino et al. (1972). </p><p>Noack (1959) reported a 43-year-old man and his 11-month-old daughter, both of whom exhibited acrocephaly and polysyndactyly. Enlarged thumbs and great toes with duplication of the latter (preaxial polydactyly) were described, as well as syndactyly. Intelligence was apparently normal. Follow-up of Noack's kindred by Pfeiffer (1964, 1969) indicated that the disorder is the same as acrocephalosyndactyly type V. See HISTORY section. </p><p>Baraitser et al. (1980) reported a kindred particularly instructive as to the range of variability. The proband had the full-blown syndrome, whereas 8 persons in 4 sibships of the previous 3 generations had large halluces and partial syndactyly of the toes (mainly toes 2 and 3). The variability of expression was also illustrated by Vanek and Losan (1982). Kroczek et al. (1986) described Kleblattschaedel in association with Pfeiffer syndrome. Rasmussen and Frias (1988) described a girl with severe manifestations of Pfeiffer syndrome. The case was thought to represent a new mutation until the mother was examined in detail and found to show abnormalities of the right thumb consistent with mild expression of the Pfeiffer syndrome. The mother was thought to have mild midfacial hypoplasia. The possibility of mosaicism in the mother seems strong. The mother's father was 40 years old at the time of her birth. </p><p>Stone et al. (1990) described an infant with the Pfeiffer syndrome in whom the trachea showed replacement of the cartilaginous rings by a solid cartilaginous plate extending the full length of the trachea and beyond the carina. This resulted in tracheal stenosis. </p><p>Soekarman et al. (1992) described classic Pfeiffer syndrome in mother and son. The infant son had cloverleaf skull anomaly. The development in the child after surgery appeared to be normal, indicating that all children with the cloverleaf skull abnormality do not have a dire prognosis. </p><p>Vallino-Napoli (1996) reviewed the audiologic and otologic features of 9 patients with Pfeiffer syndrome, ranging in age from 2 to 12 years. Hearing loss was found in 8 of the 9 patients. The degree of loss varied but was moderate to severe in most patients. Seven patients had conductive hearing loss and 1 had mixed loss; none had purely sensorineural loss. Four patients had a history of middle ear effusion. Primary CT findings consisted of stenosis and/or atresia of the external auditory canal, hypoplasia of the middle ear cavity, and an enlarged middle ear cavity. The ossicles were hypoplastic in a few cases. With 1 exception, inner ear anatomy was normal. </p><p>Robin et al. (1998) reported the clinical course of 7 children with Pfeiffer syndrome type 3. Although all of them had severe manifestations, development was essentially normal in 3, mildly delayed in 2, and moderately delayed in 1. </p><p><strong><em>Craniofacial-Skeletal-Dermatologic Dysplasia</em></strong></p><p>
|
|
Shotelersuk et al. (2002) described a 15-year-old Thai boy with an unspecified craniosynostosis syndrome characterized by multiple suture craniosynostoses, a persistent anterior fontanel, corneal scleralization, choanal stenosis, atresia of the auditory meatus, broad thumbs and great toes, severe scoliosis, acanthosis nigricans, hydrocephalus, and mental retardation. Radiography revealed bony ankyloses of vertebral bodies at T9-T12 as well as ankyloses of humeral-radial-ulnar joints, intercarpal joints, distal interphalangeal joints of the fifth fingers, fibulo-tibial joints, intertarsal joints, and distal interphalangeal joints of the first toes. </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>Diagnosis</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><strong><em>Prenatal Diagnosis</em></strong></p><p>
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Gonzales et al. (2005) reported 3 fetuses diagnosed prenatally with severe Pfeiffer syndrome, who all had the same heterozygous mutation in the FGFR2 gene (S351C; 176943.0024). All 3 patients had a cartilaginous tracheal sleeve at autopsy with no visible tracheal rings. In addition, all had vertebral anomalies, including cervical, thoracic, and lumbar fusion, and sacrococcygeal eversion was also present in 2 cases. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Pfeiffer syndrome is an autosomal dominant disorder (Pfeiffer, 1964; Saldino et al., 1972). Cohen (1993) stated that 7 Pfeiffer syndrome pedigrees (three 3-generation and four 2-generation) had been reported, in addition to at least a dozen sporadic cases. </p><p>In a study of sporadic cases of Crouzon syndrome and Pfeiffer syndrome, Glaser et al. (2000) used 4 intragenic polymorphisms to screen a total of 41 families. Of these, 22 (11 for each syndrome) were informative. They found 11 different mutations in the 22 families. By molecular means they proved that the origin of these different mutations was paternal in all informative cases analyzed. Advanced paternal age was noted for the fathers of patients with Crouzon syndrome or Pfeiffer syndrome, compared with the fathers of control individuals (34.50 +/- 7.65 years vs 30.45 +/- 1.28 years, P less than 0.01). The data extended previous information on advanced paternal age for sporadic FGFR2 mutations causing Apert syndrome and FGFR3 mutations causing achondroplasia. </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>Mapping</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><strong><em>Chromosome 8</em></strong></p><p>
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Robin et al. (1994) demonstrated linkage of markers from chromosome 8 in some Pfeiffer syndrome families. By performing fluorescence in situ hybridization on artificial chromosomes (YACs) that contained the linked DNA markers, they localized 1 gene for Pfeiffer syndrome to the pericentromeric region of chromosome 8. Genetic heterogeneity in the syndrome was demonstrated by exclusion of close linkage in other families. Because FGFR1 had been mapped to 8p12-p11.2, it became a strong candidate gene for Pfeiffer syndrome. </p><p><strong><em>Chromosome 10</em></strong></p><p>
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By linkage analysis in families with Pfeiffer syndrome unlinked to chromosome 8, including the family originally reported by Pfeiffer (1964), Schell et al. (1995) found linkage to chromosome 10q between markers D10S190 and D10S587. Crouzon syndrome (123500) had previously been linked to this region and was found to be caused by mutation in the FGFR2 gene. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Pfeiffer Syndrome with Mutations in the FGFR1 Gene</em></strong></p><p>
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Muenke et al. (1994) identified a specific mutation in the FGFR1 gene (P252R; 136350.0001) in all affected members of 5 unrelated Pfeiffer syndrome families linked to chromosome 8. </p><p>Rossi et al. (2003) reported 4 affected families with the common FGFR1 P252R mutation, all of whom demonstrated characteristic malformation of the feet but variable or absent skull involvement. The feet have the appearance of a broad and flattened hallux that is usually medially deviated, and there is syndactyly of the second and third toes. The authors suggested that this characteristic appearance of the feet, even in an isolated case without craniosynostosis, should prompt a search for the P252R mutation in FGFR1. </p><p><strong><em>Pfeiffer Syndrome with Mutations in the FGFR2 Gene</em></strong></p><p>
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Schell et al. (1995) identified mutations in the FGFR2 gene in patients with Pfeiffer syndrome linked to chromosome 10. Lajeunie et al. (1995) and Rutland et al. (1995) identified mutations in the FGFR2 gene in some patients with Pfeiffer syndrome. Lajeunie et al. (1995) described FGFR2 mutations in 1 sporadic case and 1 familial form of Pfeiffer syndrome. Rutland et al. (1995) reported point mutations in FGFR2 in 7 sporadic Pfeiffer syndrome patients; 6 of these patients shared 2 missense mutations that had also been reported in Crouzon syndrome (see 176943.0001 and 176943.0002). The Crouzon and Pfeiffer phenotypes usually 'breed true' within families and the finding of identical mutations in unrelated individuals giving different phenotypes was a highly unexpected observation. </p><p>Bellus et al. (1996) described a pro250-to-arg mutation in the extracellular domain of the FGFR3 gene (134934.0014) in 10 unrelated families with dominant craniosynostosis syndromes. This mutation (749C-G) occurs precisely at the position in FGFR3 analogous to that of mutations in FGFR1 (P252R; 136350.0001) and FGFR2 (P253R; 176943.0011) reported in Pfeiffer syndrome and Apert syndrome, respectively. The FGFR mutations in Pfeiffer syndrome and nonsyndromic craniosynostosis were reviewed in detail. </p><p>In a patient with severe Pfeiffer phenotype, Tartaglia et al. (1997) reported a de novo G-to-C transversion in exon IIIa of the FGFR2 gene, resulting in a trp-to-cys missense mutation at codon 290 (T290C; 176943.0019). The patient had cloverleaf skull deformity as well as the other typical ocular, hand, and foot anomalies seen in Pfeiffer syndrome. Missense mutations at codon 290 of FGFR2 had been reported previously in Crouzon syndrome, but not in Pfeiffer syndrome. </p><p>Schaefer et al. (1998) likewise found a T290C mutation in a case of Pfeiffer syndrome type 2 (176943.0032). The infant had cloverleaf skull, proptosis, radioulnar synostosis, and broad thumbs and great toes; however, there were many overlapping findings with Antley-Bixler syndrome (207410). Trp290 appears to be a major hotspot in the FGFR2 gene; a trp290-to-arg substitution was found by Meyers et al. (1996) in classic cases of Crouzon syndrome, and a trp290-to-gly mutation was found by Park et al. (1995) in an atypically mild form of Crouzon syndrome. Schaefer et al. (1998) pictured (their Fig. 2) the sequence in the region of the 2 FGFR2 hotspots, trp290 and cys342, defining the immunoglobulin-like domain of exons 7 and 9. </p><p>Plomp et al. (1998) reported 5 unrelated patients, 3 boys and 2 girls, with Pfeiffer syndrome type 2. Most patients with this form died shortly after birth. Causes of death included pulmonary problems, brain abnormalities, prematurity, and postoperative complications. Two of the patients showed the cys342-to-arg mutation (176943.0002). </p><p><strong><em>Craniofacial-Skeletal-Dermatologic Dysplasia</em></strong></p><p>
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In a 15-year-old Thai boy with a craniofacial-skeletal-dermatologic dysplasia, Shotelersuk et al. (2002) identified heterozygosity for an 870G-T transversion in the FGFR2 gene, resulting in a W290C substitution in the extracellular domain of the protein gene (176943.0032). The same mutation had been reported by Schaefer et al. (1998) in a case of Pfeiffer syndrome with overlapping features of Antley-Bixler syndrome (207410). </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>The disorder described by Noack (1959) was listed in an early edition of MIM as 'acrocephalopolysyndactyly type I (ACPS I)' and was thought to differ from Apert syndrome (101200) by the presence of polydactyly as an additional feature. In this early classification, Carpenter syndrome (201000) was designated 'acrocephalopolysyndactyly II (ACPS II).' </p><p>Robinow and Sorauf (1975) described an extensively affected kindred with what they called 'Noack syndrome.' The disorder in the family reported by Robinow and Sorauf (1975) is discussed in 180750. </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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Cremers (1981); Eastman et al. (1978); Escobar and Bixler (1977);
|
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Gnamey and Farriaux (1971); Naveh and Friedman (1976); Temtamy and
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McKusick (1969)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Baraitser, M., Bowen-Bravery, M., Saldana-Garcia, P.
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<strong>Pitfalls of genetic counselling in Pfeiffer's syndrome.</strong>
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J. Med. Genet. 17: 250-256, 1980.
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[PubMed: 7205899]
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[Full Text: https://doi.org/10.1136/jmg.17.4.250]
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Bellus, G. A., Gaudenz, K., Zackai, E. H., Clarke, L. A., Szabo, J., Francomano, C. A., Muenke, M.
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<strong>Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.</strong>
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Cohen, M. M., Jr., Barone, C. M.
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<strong>Reply to Dr. Winter. (Letter)</strong>
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Am. J. Med. Genet. 49: 358-359, 1994.
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Cohen, M. M., Jr.
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<strong>Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis.</strong>
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Cremers, C. W. R. J.
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<strong>Hearing loss in Pfeiffer's syndrome.</strong>
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Int. J. Pediat. Otorhinolaryng. 3: 343-353, 1981.
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Eastman, J. R., Escobar, V., Bixler, D.
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<strong>Linkage analysis in dominant acrocephalosyndactyly.</strong>
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J. Med. Genet. 15: 292-293, 1978.
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Escobar, V., Bixler, D.
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<strong>The acrocephalosyndactyly syndrome: a metacarpophalangeal pattern profile analysis.</strong>
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Clin. Genet. 11: 295-305, 1977.
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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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Gnamey, D., Farriaux, J.-P.
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<strong>Syndrome dominant associant polysyndactylie, pouces en spatule, anomalies facials et retard mental (une forme particuliere de l'acrocephalo-polysyndactylie de type Noack).</strong>
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Gonzales, M., Heuertz, S., Martinovic, J., Delahaye, S., Bazin, A., Loget, P., Pasquier, L., Le Merrer, M., Bonaventure, J.
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<strong>Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation. (Letter)</strong>
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Kroczek, R. A., Muhlbauer, W., Zimmermann, I.
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<strong>Cloverleaf skull associated with Pfeiffer syndrome: pathology and management.</strong>
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Lajeunie, E., Ma, H. W., Bonaventure, J., Munnich, A., Le Merrer, M., Renier, D.
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<strong>FGFR2 mutations in Pfeiffer syndrome. (Letter)</strong>
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Martsolf, J. T., Cracco, J. B., Carpenter, G. G., O'Hara, A. E.
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<strong>Pfeiffer syndrome: an unusual type of acrocephalosyndactyly with broad thumbs and great toes.</strong>
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Am. J. Dis. Child. 121: 257-262, 1971.
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<p class="mim-text-font">
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Meyers, G. A., Day, D., Goldberg, R., Daentl, D. L., Przylepa, K. A., Abrams, L. J., Graham, J. M., Jr., Feingold, M., Moeschler, J. B., Rawnsley, E., Scott, A. F., Jabs, E. W.
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<strong>FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.</strong>
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Am. J. Hum. Genet. 58: 491-498, 1996.
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[PubMed: 8644708]
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<p class="mim-text-font">
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Muenke, M., Schell, U., Hehr, A., Robin, N. H., Losken, H. W., Schinzel, A., Pulleyn, L. J., Rutland, P., Reardon, W., Malcolm, S., Winter, R. M.
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<strong>A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.</strong>
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Nature Genet. 8: 269-274, 1994.
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[PubMed: 7874169]
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[Full Text: https://doi.org/10.1038/ng1194-269]
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</p>
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<li>
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<p class="mim-text-font">
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Naveh, Y., Friedman, A.
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<strong>Pfeiffer syndrome: report of a family and review of the literature.</strong>
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J. Med. Genet. 13: 277-280, 1976.
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[PubMed: 957376]
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[Full Text: https://doi.org/10.1136/jmg.13.4.277]
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</p>
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<li>
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<p class="mim-text-font">
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Noack, M.
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<strong>Ein Beitrag zum Krankheitsbild der Akrozephalosyndaktylie (Apert).</strong>
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Arch. Kinderheilk. 160: 168-171, 1959.
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[PubMed: 14427428]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Park, W.-J., Meyers, G. A., Li, X., Theda, C., Day, D., Orlow, S. J., Jones, M. C., Jabs, E. W.
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<strong>Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.</strong>
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Hum. Molec. Genet. 4: 1229-1233, 1995.
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[PubMed: 8528214]
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[Full Text: https://doi.org/10.1093/hmg/4.7.1229]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Pfeiffer, R. A.
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<strong>Dominant erbliche Akrocephalosyndaktylie.</strong>
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Z. Kinderheilk. 90: 301-320, 1964.
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[PubMed: 14316612]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Pfeiffer, R. A.
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<strong>Associated deformities of the head and hands.</strong>
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Birth Defects Orig. Art. Ser. V(3): 18-34, 1969. Note: Case 3.
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</p>
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<li>
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<p class="mim-text-font">
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Plomp, A. S., Hamel, B. C. J., Cobben, J. M., Verloes, A., Offermans, J. P. M., Lajeunie, E., Fryns, J. P., de Die-Smulders, C. E. M.
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<strong>Pfeiffer syndrome type 2: further delineation and review of the literature.</strong>
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Am. J. Med. Genet. 75: 245-251, 1998.
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[PubMed: 9475590]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Rasmussen, S. A., Frias, J. L.
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<strong>Mild expression of the Pfeiffer syndrome.</strong>
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Clin. Genet. 33: 5-10, 1988.
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[PubMed: 3342547]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1988.tb04258.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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