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Entry
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- #146000 - HYPOCHONDROPLASIA; HCH
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- OMIM
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<p>
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<span class="h4">#146000</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/146000"><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="#nomenclature">Nomenclature</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#diagnosis">Diagnosis</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#heterogeneity">Heterogeneity</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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<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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<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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=HYPOCHONDROPLASIA" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=161&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1477/" 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/3635" 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/hypochondroplasia" 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=146000[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=429" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/6a2f3e6c-41bf-46e4-940f-c8ad5e035823/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080041" 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/146000" 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/OMIA001703/" 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:0080041" 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 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:146000" 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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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 205468002<br />
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<strong>ICD10CM:</strong> Q77.4<br />
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<strong>ORPHA:</strong> 429<br />
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<strong>DO:</strong> 0080041<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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146000
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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HYPOCHONDROPLASIA; HCH
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
|
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/4/34?start=-3&limit=10&highlight=34">
|
|
4p16.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Hypochondroplasia
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/146000"> 146000 </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">
|
|
FGFR3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/134934"> 134934 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/146000" 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/146000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/146000" 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> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short-limb dwarfism identifiable during childhood <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867487&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867487</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011405" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011405</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011405" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011405</a>]</span><br /> -
|
|
Final height, 125 to 160 cm <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840336</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Macrocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12138000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12138000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1145403003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1145403003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221355</a>, <a href="https://bioportal.bioontology.org/search?q=C2243051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2243051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001355</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Macrocephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Mild frontal bossing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840337&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840337</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90145001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90145001</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Frontal_Bossing-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Normal/mild midface hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840338&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840338</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Variable lumbar lordosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840339&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840339</a>]</span><br /> -
|
|
Progressive narrowing of interpediculate distance in the lumbar vertebrate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840340&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840340</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pelvis </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short, squared ilia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840341&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840341</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Shortened limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551464&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551464</a>, <a href="https://bioportal.bioontology.org/search?q=C0239399&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239399</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009815" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009815</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0009826" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009826</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009815" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009815</a>]</span><br /> -
|
|
Short tubular bones with mild metaphyseal flare <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840342&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840342</a>]</span><br /> -
|
|
Limited extension at elbows <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867103&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867103</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001377" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001377</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001377" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001377</a>]</span><br /> -
|
|
Genu varum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299331007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299331007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64925008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64925008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.16" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.16</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.42</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0544755&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0544755</a>, <a href="https://bioportal.bioontology.org/search?q=C0158485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158485</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002970" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002970</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002970" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002970</a>]</span><br /> -
|
|
Bowleg <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299331007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299331007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.16" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.16</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0544755&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0544755</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002970" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002970</a>]</span><br />
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<span class="h5 mim-font">
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<em> Hands </em>
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<div style="margin-left: 2em;">
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- Lack of trident hand helps distinguish it from achondroplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840344&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840344</a>]</span><br /> -
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Brachydactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43476002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43476002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221357&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221357</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span><br />
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<strong> SKIN, NAILS, & HAIR </strong>
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<em> Skin </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Acanthosis nigricans (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/402599005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">402599005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72129000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72129000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L83</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0000889&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0000889</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000956" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000956</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000956" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000956</a>]</span><br />
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<div>
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<span class="h5 mim-font">
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<strong> NEUROLOGIC </strong>
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<div style="margin-left: 2em;">
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<span class="h5 mim-font">
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<em> Central Nervous System </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Occasional mental retardation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852459&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852459</a>]</span><br />
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<div>
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<div>
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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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- Genetic heterogeneity, some patients not linked to FGFR3<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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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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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-3 gene (FGFR3, <a href="/entry/134934#0010">134934.0010</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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<div>
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<br />
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<div>
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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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</span>
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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 of evidence that hypochondroplasia (HCH) is caused by heterozygous mutation in the FGFR3 gene (<a href="/entry/134934">134934</a>) on chromosome 4p16.</p><p>Mutation in the FGFR3 gene is consistently mutated in achondroplasia (ACH; <a href="/entry/100800">100800</a>).</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 id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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 id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Hypochondroplasia (HCH) is an autosomal dominant disorder characterized by short-limbed dwarfism, lumbar lordosis, short and broad bones, and caudad narrowing of the interpediculate distance of the lumbar spine. It shows some resemblance to achondroplasia, but is much milder and can be distinguished on clinical and radiographic grounds (<a href="#22" class="mim-tip-reference" title="Walker, B. A., Murdoch, J. L., McKusick, V. A., Langer, L. O., Jr., Beals, R. K. <strong>Hypochondroplasia.</strong> Am. J. Dis. Child. 122: 95-104, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5564166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5564166</a>] [<a href="https://doi.org/10.1001/archpedi.1971.02110020029001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5564166">Walker et al., 1971</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5564166" 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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<div>
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<br />
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<div>
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<a id="nomenclature" class="mim-anchor"></a>
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<span id="mimNomenclatureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Nomenclature</strong>
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</span>
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</h4>
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<div id="mimNomenclatureFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#10" class="mim-tip-reference" title="Lamy, M., Maroteaux, P. <strong>Les Chondrodystrophies Genotypiques.</strong> Paris: L'Expansion Scientifique Francaise (pub.) 1961. P. 26."None>Lamy and Maroteaux (1961)</a> suggested the term hypochondroplasia.</p>
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<div>
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<br />
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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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<span class="mim-text-font">
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<p><a href="#2" class="mim-tip-reference" title="Beals, R. K. <strong>Hypochondroplasia: a report of five kindreds.</strong> J. Bone Joint Surg. Am. 51: 728-736, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5783850/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5783850</a>]" pmid="5783850">Beals (1969)</a> reported 5 kindreds segregating hypochondroplasia. He found that the limbs in this disorder are usually short, without rhizomelia, mesomelia, or acromelia, but may have mild metaphyseal flaring. Brachydactyly and mild limitation in elbow extension can be evident. Spinal manifestations may include anteroposterior shortening of lumbar pedicles. The spinal canal may be narrowed or unchanged caudally. Lumbar lordosis may be evident. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5783850" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Specht, E. E., Daentl, D. L. <strong>Hypochondroplasia.</strong> Clin. Orthop. Relat. Res. 110: 249-255, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1098822/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1098822</a>] [<a href="https://doi.org/10.1097/00003086-197507000-00036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1098822">Specht and Daentl (1975)</a> reported 6 new cases of hypochondroplasia with moderate rhizomelic shortness of stature and normal craniofacial appearance and hand configuration. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1098822" 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="#6" class="mim-tip-reference" title="Glasgow, J. F., Nevin, N. C., Thomas, P. S. <strong>Hypochondroplasia.</strong> Arch. Dis. Child. 53: 868-872, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/727810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">727810</a>] [<a href="https://doi.org/10.1136/adc.53.11.868" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="727810">Glasgow et al. (1978)</a> described 3 patients with hypochondroplasia. Clues to the diagnosis were abnormality of body proportions with short limbs and lumbar lordosis, but without the extreme short stature or facial features of achondroplasia, and short, stubby hands and feet. Radiologic features included long bones that were shorter than the normal range for age, as well as broader and slightly bowed with mildly flared metaphyses. Vertebral changes consisted of mild tapering of the spinal canal and low articulation of the sacrum on the iliac bones. The pelvis was small with normal flaring of the iliac wings. Two of the patients had a large head with delayed closure of the fontanels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=727810" 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 review of 39 cases of hypochondroplasia, <a href="#7" class="mim-tip-reference" title="Hall, B. D., Spranger, J. <strong>Hypochondroplasia: clinical and radiological aspects in 39 cases.</strong> Radiology 133: 95-100, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/472320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">472320</a>] [<a href="https://doi.org/10.1148/133.1.95" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="472320">Hall and Spranger (1979)</a> found that macrocephaly was noted in approximately half of cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=472320" 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>Evidence that hypochondroplasia and achondroplasia are allelic disorders came from the observation of the presumed genetic compound in an offspring of an achondroplastic father and a hypochondroplastic mother (<a href="#12" class="mim-tip-reference" title="McKusick, V. A., Kelly, T. E., Dorst, J. P. <strong>Observations suggesting allelism of the achondroplasia and hypochondroplasia genes.</strong> J. Med. Genet. 10: 11-16, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4697848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4697848</a>] [<a href="https://doi.org/10.1136/jmg.10.1.11" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4697848">McKusick et al., 1973</a>). <a href="#18" class="mim-tip-reference" title="Sommer, A., Young-Wee, T., Frye, T. <strong>Achondroplasia-hypochondroplasia complex.</strong> Am. J. Med. Genet. 26: 949-957, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3591840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3591840</a>] [<a href="https://doi.org/10.1002/ajmg.1320260426" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3591840">Sommer et al. (1987)</a> gave a follow-up on this child at age 14 years. The patient had severe neurologic impairment and increased deep tendon reflexes and clonus. She had very little speech and could not walk. Her mental scale was placed at about 1 year when tested at age 10. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3591840+4697848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="inheritance" class="mim-anchor"></a>
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<strong>Inheritance</strong>
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</h4>
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<p><a href="#2" class="mim-tip-reference" title="Beals, R. K. <strong>Hypochondroplasia: a report of five kindreds.</strong> J. Bone Joint Surg. Am. 51: 728-736, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5783850/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5783850</a>]" pmid="5783850">Beals (1969)</a> described 5 kindreds with clear evidence of autosomal dominant inheritance. Both father-to-daughter and mother-to-daughter transmission have been reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5783850" 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 diagnosis of hypochondroplasia on clinical and radiologic grounds is often uncertain. <a href="#1" class="mim-tip-reference" title="Appan, S., Laurent, S., Chapman, M., Hindmarsh, P. C., Brook, C. G. D. <strong>Growth and growth hormone therapy in hypochondroplasia.</strong> Acta Paediat. Scand. 79: 796-803, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2239275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2239275</a>] [<a href="https://doi.org/10.1111/j.1651-2227.1990.tb11557.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2239275">Appan et al. (1990)</a> studied growth and growth hormone therapy in 84 patients with hypochondroplasia, which they suggested could be diagnosed on the basis of 'short stature with near-normal craniofacies and the invariable radiographic finding of a failure of increase in the interpedicular distance in the lumbar spine from L1 to L5 in the absence of any other gross measurable radiological abnormality.' If one defines hypochondroplasia as an achondroplasia-like disorder with mutation in the FGFR3 gene, i.e., a mild allelic form of achondroplasia, it is likely that use of the above criteria would lead to many false-positive diagnoses when checked against a complete mutation search of the FGFR3 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2239275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Bellus, G. A., McIntosh, I., Smith, E. A., Aylsworth, A. S., Kaitila, I., Horton, W. A., Greenhaw, G. A., Hecht, J. T., Francomano, C. A. <strong>A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.</strong> Nature Genet. 10: 357-359, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7670477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7670477</a>] [<a href="https://doi.org/10.1038/ng0795-357" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7670477">Bellus et al. (1995)</a> demonstrated that a recurrent asn540-to-lys mutation (N540K; <a href="/entry/134934#0010">134934.0010</a>) in the tyrosine kinase domain of FGFR3 was present in 8 of 14 unrelated patients with hypochondroplasia. Thus, hypochondroplasia and achondroplasia are indeed allelic as are also thanatophoric dysplasia type I (e.g., <a href="/entry/134934#0004">134934.0004</a>) and type II (e.g., <a href="/entry/134934#0005">134934.0005</a>). Since 6 of the 14 patients with hypochondroplasia did not carry the N540K mutation, hypochondroplasia may be caused by mutation in some other gene or perhaps by other undetected mutations in FGFR3. Review of the medical records of the hypochondroplasia patients revealed no obvious phenotypic differences between individuals who did or did not have the asn540-to-lys mutation of FGFR3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7670477" 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="Rousseau, F., Bonaventure, J., Legeai-Mallet, L., Schmidt, H., Weissenbach, J., Maroteaux, P., Munnich, A., Le Merrer, M. <strong>Clinical and genetic heterogeneity of hypochondroplasia.</strong> J. Med. Genet. 33: 749-752, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8880574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8880574</a>] [<a href="https://doi.org/10.1136/jmg.33.9.749" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8880574">Rousseau et al. (1996)</a> examined 13 patients with sporadic hypochondroplasia and 16 probands from familial cases. In all sporadic cases and in 8 of 16 familial cases, the N540K mutation of the FGFR3 gene, located on 4p16.3, was found. In 6 familial cases, linkage to 4p16 was excluded; 2 families were uninformative. Clinical comparison showed that patients unlinked to 4p16 generally had a milder phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8880574" 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="#15" class="mim-tip-reference" title="Prinster, C., Carrera, P., Del Maschio, M., Weber, G., Maghnie, M., Vigone, M. C., Mora, S., Tonini, G., Rigon, F., Beluffi, G., Severi, F., Chiumello, G., Ferrari, M. <strong>Comparison of clinical-radiological and molecular findings in hypochondroplasia.</strong> Am. J. Med. Genet. 75: 109-112, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9450868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9450868</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19980106)75:1<109::aid-ajmg22>3.0.co;2-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9450868">Prinster et al. (1998)</a> selected 18 patients with a phenotype compatible with hypochondroplasia based on the most common radiologic criteria. The presence of the N540K mutation was verified by restriction enzyme digestions in 9 of the 18 patients. Although similar in phenotype to patients without the mutation, these 9 had the additional feature of relative macrocephaly. Furthermore, the association of the unchanged or narrow interpedicular distance with the fibula longer than the tibia was more common in patients with the N540K mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9450868" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Ramaswami, U., Rumsby, G., Hindmarsh, P. C., Brook, C. G. D. <strong>Genotype and phenotype in hypochondroplasia.</strong> J. Pediat. 133: 99-102, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9672519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9672519</a>] [<a href="https://doi.org/10.1016/s0022-3476(98)70186-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9672519">Ramaswami et al. (1998)</a> screened 65 children with hypochondroplasia diagnosed by clinical and radiologic criteria for 2 previously described mutations, 1620C-A (<a href="/entry/134934#0010">134934.0010</a>) and 1620C-G (<a href="/entry/134934#0012">134934.0012</a>), in FGFR3; 28 (43%) of the 65 patients were heterozygous for the 1620C-A transversion, resulting in a lys540-to-asn substitution in the tyrosine kinase domain of FGFR3. Children with the common 1620C-A mutation met all the criteria for the diagnosis of HCH with a severe phenotype resembling that of achondroplasia, and disproportionate stature in early childhood. Patients without the 1620C-A mutation were proportionately short and presented at an older age with the same radiologic characteristics as in HCH and the same failure of the puberty growth spurt. The latter group did not come to attention until a mean age of 10.45 years, whereas the group with the 1620C-A mutation had a mean age at diagnosis of 5.8 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9672519" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Huggins, M. J., Smith, J. R., Chun, K., Ray, P. N., Shah, J. K., Whelan, D. T. <strong>Achondroplasia-hypochondroplasia complex in a newborn infant.</strong> Am. J. Med. Genet. 84: 396-400, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10360392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10360392</a>]" pmid="10360392">Huggins et al. (1999)</a> reported an 8-month-old girl with achondroplasia/hypochondroplasia whose father had the G380R achondroplasia mutation (<a href="/entry/134934#0001">134934.0001</a>) in the FGFR3 gene and whose mother had the N450K hypochondroplasia mutation (<a href="/entry/134934#0010">134934.0010</a>). <a href="#4" class="mim-tip-reference" title="Chitayat, D., Fernandez, B., Gardner, A., Moore, L., Glance, P., Dunn, M., Chun, K., Sgro, M., Ray, P., Allingham-Hawkins, D. <strong>Compound heterozygosity for the achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.</strong> Am. J. Med. Genet. 84: 401-405, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10360393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10360393</a>]" pmid="10360393">Chitayat et al. (1999)</a> simultaneously reported an infant boy with achondroplasia/hypochondroplasia whose mother had the G380R mutation and whose father had the N450K mutation. Molecular analysis confirmed the compound heterozygosity of both children, who displayed an intermediate phenotype that was more severe than either condition in the heterozygous state but less severe than homozygous ACH. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10360392+10360393" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Mortier, G., Nuytinck, L., Craen, M., Renard, J.-P., Leroy, J. G., De Paepe, A. <strong>Clinical and radiographic features of a family with hypochondroplasia owing to a novel asn540ser mutation in the fibroblast growth factor receptor 3 gene.</strong> J. Med. Genet. 37: 220-224, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10777366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10777366</a>] [<a href="https://doi.org/10.1136/jmg.37.3.220" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10777366">Mortier et al. (2000)</a> reported a father and daughter with clinical and radiographic features of hypochondroplasia who were heterozygous for an A-to-G transition resulting in the replacement of an asparagine residue at position 540 by a serine residue (<a href="/entry/134934#0023">134934.0023</a>). They noted the important role of the asn540 site in the tyrosine kinase I domain in the pathogenesis of hypochondroplasia and recommended that, in patients with hypochondroplasia who do not have the common N540K mutation, sequence analysis of the tyrosine kinase I domain of FGFR3 should be performed to exclude other changes in that region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10777366" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Heuertz, S., Le Merrer, M., Zabel, B., Wright, M., Legeai-Mallet, L., Cormier-Daire, V., Gibbs, L., Bonaventure, J. <strong>Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.</strong> Europ. J. Hum. Genet. 14: 1240-1247, 2006. Note: Erratum: Europ. J. Hum. Genet. 14: 1321 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16912704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16912704</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201700" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16912704">Heuertz et al. (2006)</a> screened 18 exons of the FGFR3 gene in 25 patients with hypochondroplasia and 1 with achondroplasia in whom the common mutations G380R and N540K had been excluded. The authors identified 7 novel missense mutations, 1 in the patient with achondroplasia (S279C; <a href="/entry/134934#0030">134934.0030</a>) and 6 in patients with hypochondroplasia (see, e.g., Y278C, <a href="/entry/134934#0031">134934.0031</a> and S84L, <a href="/entry/134934#0032">134934.0032</a>); no mutations were detected in the remaining 19 patients who were diagnosed clinically with hypochondroplasia. <a href="#8" class="mim-tip-reference" title="Heuertz, S., Le Merrer, M., Zabel, B., Wright, M., Legeai-Mallet, L., Cormier-Daire, V., Gibbs, L., Bonaventure, J. <strong>Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.</strong> Europ. J. Hum. Genet. 14: 1240-1247, 2006. Note: Erratum: Europ. J. Hum. Genet. 14: 1321 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16912704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16912704</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201700" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16912704">Heuertz et al. (2006)</a> noted that 4 of the 6 extracellular mutations created additional cysteine residues and were associated with severe phenotypes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16912704" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Leroy, J. G., Nuytinck, L., Lambert, J., Naeyaert, J.-M., Mortier, G. R. <strong>Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.</strong> Am. J. Med. Genet. 143A: 3144-3149, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18000903/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18000903</a>] [<a href="https://doi.org/10.1002/ajmg.a.31966" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18000903">Leroy et al. (2007)</a> identified a missense mutation in the FGFR3 gene (<a href="/entry/134934#0022">134934.0022</a>) in a girl with a mild form of hypochondroplasia who was also diagnosed with acanthosis nigricans at 8 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18000903" 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>By using microarray-based next-generation sequencing to study a Chinese woman with hypochondroplasia, <a href="#23" class="mim-tip-reference" title="Wang, H., Sun, Y., Wu, W., Wei, X., Lan, Z., Xie, J. <strong>A novel missense mutation of FGFR3 in a Chinese female and her fetus with hypochondroplasia by next-generation sequencing.</strong> Clin. Chim. Acta 423: 62-65, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23726269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23726269</a>] [<a href="https://doi.org/10.1016/j.cca.2013.04.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23726269">Wang et al. (2013)</a> identified a G342C mutation (<a href="/entry/134934#0036">134934.0036</a>) in the extracellular IgIII loop of FGFR3. The mutation was also found in the woman's fetus when ultrasound scan detected a short femur and dwarfism. <a href="#23" class="mim-tip-reference" title="Wang, H., Sun, Y., Wu, W., Wei, X., Lan, Z., Xie, J. <strong>A novel missense mutation of FGFR3 in a Chinese female and her fetus with hypochondroplasia by next-generation sequencing.</strong> Clin. Chim. Acta 423: 62-65, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23726269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23726269</a>] [<a href="https://doi.org/10.1016/j.cca.2013.04.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23726269">Wang et al. (2013)</a> concluded that the sequencing procedure enabled a correct diagnosis, distinguishing HCH from other skeletal dysplasias. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23726269" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#14" class="mim-tip-reference" title="Mullis, P. E., Patel, M. S., Brickell, P. M., Hindmarsh, P. C., Brook, C. G. D. <strong>Growth characteristics and response to growth hormone therapy in patients with hypochondroplasia: genetic linkage of the insulin-like growth factor I gene at chromosome 12q23 to the disease in a subgroup of these patients.</strong> Clin. Endocr. 34: 265-274, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1879059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1879059</a>] [<a href="https://doi.org/10.1111/j.1365-2265.1991.tb03765.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1879059">Mullis et al. (1991)</a> reported findings suggesting that some cases of hypochondroplasia are caused by a defect in insulin-like growth factor I (IGF1; <a href="/entry/147440">147440</a>). They studied 20 children with short stature attributed to hypochondroplasia by radiologic and clinical criteria who were undergoing treatment with recombinant human growth hormone. The frequency of a particular heterozygous pattern of restriction fragments was significantly higher in children with hypochondroplasia than in the control groups. The hypochondroplastic children whose response to r-hGH treatment was characterized by a proportionate increase in both spinal and subischial leg length were all heterozygous for 2 coinherited IGF1 RFLP alleles. Those children whose response was characterized by accentuation of the body disproportion by r-hGH treatment were all homozygous for these alleles. Studies of 5 families containing heterozygous children demonstrated strong linkage (lod score = 3.311 at 0 recombination) of the IGF1 locus to this subgroup of hypochondroplasia. An allele at each of 2 RFLP loci were in strong linkage disequilibrium with this trait. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1879059" 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="Stoilov, I., Kilpatrick, M. W., Tsipouras, P. <strong>A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia.</strong> Am. J. Med. Genet. 55: 127-133, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7702086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7702086</a>] [<a href="https://doi.org/10.1002/ajmg.1320550132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7702086">Stoilov et al. (1995)</a> found the G380R mutation in the FGFR3 gene (<a href="/entry/134934#0001">134934.0001</a>) in 21 of 23 achondroplasia patients but in none of 8 hypochondroplasia patients studied. Furthermore, linkage studies in a 3-generation family with hypochondroplasia showed discordant segregation with markers in the 4p16.3 region where the achondroplasia locus is situated, suggesting that at least some cases of hypochondroplasia are caused by mutations in a gene other than FGFR3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7702086" 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>Genetic heterogeneity of hypochondroplasia seemed to be evident in the patients reported by <a href="#5" class="mim-tip-reference" title="Flynn, M. A., Pauli, R. M. <strong>Double heterozygosity in bone growth disorders: four new observations and review.</strong> Am. J. Med. Genet. 121A: 193-208, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12923858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12923858</a>] [<a href="https://doi.org/10.1002/ajmg.a.20143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12923858">Flynn and Pauli (2003)</a>, who were thought to be double heterozygotes for mutations at the FGFR3 locus and another unidentified locus. The female probands were dichorionic, diamniotic twins born to a mother with achondroplasia and a father with hypochondroplasia. Mutation of the FGFR3 gene was not identified in the father by either molecular testing for the common hypochondroplasia mutation or by sequencing of the FGFR3 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12923858" 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="#Stoilov1995" class="mim-tip-reference" title="Stoilov, I., Kilpatrick, M. W., Tsipouras, P. <strong>A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia.</strong> Am. J. Med. Genet. 55: 127-133, 1995.">Stoilov et al. (1995)</a>
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Flynn, M. A., Pauli, R. M.
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<strong>Double heterozygosity in bone growth disorders: four new observations and review.</strong>
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Am. J. Med. Genet. 121A: 193-208, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12923858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12923858</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12923858" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20143" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10777366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10777366</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10777366" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1879059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1879059</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1879059" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Prinster1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Prinster, C., Carrera, P., Del Maschio, M., Weber, G., Maghnie, M., Vigone, M. C., Mora, S., Tonini, G., Rigon, F., Beluffi, G., Severi, F., Chiumello, G., Ferrari, M.
|
|
<strong>Comparison of clinical-radiological and molecular findings in hypochondroplasia.</strong>
|
|
Am. J. Med. Genet. 75: 109-112, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9450868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9450868</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9450868" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19980106)75:1<109::aid-ajmg22>3.0.co;2-p" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Ramaswami1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ramaswami, U., Rumsby, G., Hindmarsh, P. C., Brook, C. G. D.
|
|
<strong>Genotype and phenotype in hypochondroplasia.</strong>
|
|
J. Pediat. 133: 99-102, 1998.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9672519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9672519</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9672519" 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/10.1016/s0022-3476(98)70186-6" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Rousseau1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rousseau, F., Bonaventure, J., Legeai-Mallet, L., Schmidt, H., Weissenbach, J., Maroteaux, P., Munnich, A., Le Merrer, M.
|
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<strong>Clinical and genetic heterogeneity of hypochondroplasia.</strong>
|
|
J. Med. Genet. 33: 749-752, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8880574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8880574</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8880574" 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.33.9.749" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="Sommer1987" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Sommer, A., Young-Wee, T., Frye, T.
|
|
<strong>Achondroplasia-hypochondroplasia complex.</strong>
|
|
Am. J. Med. Genet. 26: 949-957, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3591840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3591840</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3591840" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320260426" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Specht1975" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Specht, E. E., Daentl, D. L.
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<strong>Hypochondroplasia.</strong>
|
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Clin. Orthop. Relat. Res. 110: 249-255, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1098822/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1098822</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1098822" 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/10.1097/00003086-197507000-00036" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="20" class="mim-anchor"></a>
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<a id="Stoilov1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stoilov, I., Kilpatrick, M. W., Tsipouras, P., Costa, T.
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<strong>Possible genetic heterogeneity in hypochondroplasia. (Letter)</strong>
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J. Med. Genet. 32: 492-493, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7666407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7666407</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7666407" 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.32.6.492-a" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="Stoilov1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stoilov, I., Kilpatrick, M. W., Tsipouras, P.
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<strong>A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia.</strong>
|
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Am. J. Med. Genet. 55: 127-133, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7702086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7702086</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7702086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320550132" target="_blank">Full Text</a>]
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<a id="22" class="mim-anchor"></a>
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<a id="Walker1971" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Walker, B. A., Murdoch, J. L., McKusick, V. A., Langer, L. O., Jr., Beals, R. K.
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<strong>Hypochondroplasia.</strong>
|
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Am. J. Dis. Child. 122: 95-104, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5564166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5564166</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5564166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archpedi.1971.02110020029001" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="23" class="mim-anchor"></a>
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<a id="Wang2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, H., Sun, Y., Wu, W., Wei, X., Lan, Z., Xie, J.
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<strong>A novel missense mutation of FGFR3 in a Chinese female and her fetus with hypochondroplasia by next-generation sequencing.</strong>
|
|
Clin. Chim. Acta 423: 62-65, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23726269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23726269</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23726269" 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/10.1016/j.cca.2013.04.015" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" 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="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </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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Paul J. Converse - updated : 2/5/2014
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Nara Sobreira - updated : 7/14/2009<br>Marla J. F. O'Neill - updated : 3/2/2007<br>Marla J. F. O'Neill - updated : 6/30/2004<br>Victor A. McKusick - updated : 10/8/2003<br>Michael J. Wright - updated : 1/11/2001<br>Victor A. McKusick - updated : 9/2/1998<br>Victor A. McKusick - updated : 2/18/1997<br>Iosif W. Lurie - updated : 12/4/1996
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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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<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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</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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Victor A. McKusick : 6/2/1986
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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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<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 : 11/02/2022
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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 : 11/01/2022<br>alopez : 04/14/2016<br>carol : 3/25/2016<br>mcolton : 2/5/2014<br>terry : 1/13/2011<br>carol : 12/23/2010<br>carol : 12/3/2010<br>terry : 4/30/2010<br>carol : 7/14/2009<br>wwang : 3/8/2007<br>wwang : 3/6/2007<br>terry : 3/2/2007<br>carol : 7/1/2004<br>carol : 7/1/2004<br>terry : 6/30/2004<br>alopez : 10/8/2003<br>joanna : 10/31/2002<br>carol : 2/13/2001<br>alopez : 1/11/2001<br>carol : 9/8/1998<br>alopez : 9/2/1998<br>terry : 5/29/1998<br>dholmes : 2/25/1998<br>dholmes : 2/18/1998<br>mark : 2/18/1997<br>terry : 2/12/1997<br>jamie : 12/4/1996<br>mark : 8/18/1995<br>carol : 2/6/1995<br>mimadm : 11/5/1994<br>davew : 7/5/1994<br>carol : 11/2/1993<br>carol : 11/1/1993
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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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> 146000
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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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HYPOCHONDROPLASIA; HCH
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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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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 205468002;
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<strong>ICD10CM:</strong> Q77.4;
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<strong>ORPHA:</strong> 429;
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<strong>DO:</strong> 0080041;
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</span>
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</p>
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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>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>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
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>
|
|
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">
|
|
4p16.3
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Hypochondroplasia
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
146000
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
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">
|
|
3
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
FGFR3
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
134934
|
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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>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</h4>
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<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because of evidence that hypochondroplasia (HCH) is caused by heterozygous mutation in the FGFR3 gene (134934) on chromosome 4p16.</p><p>Mutation in the FGFR3 gene is consistently mutated in achondroplasia (ACH; 100800).</p>
|
|
</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">
|
|
<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>Hypochondroplasia (HCH) is an autosomal dominant disorder characterized by short-limbed dwarfism, lumbar lordosis, short and broad bones, and caudad narrowing of the interpediculate distance of the lumbar spine. It shows some resemblance to achondroplasia, but is much milder and can be distinguished on clinical and radiographic grounds (Walker et al., 1971). </p>
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<strong>Nomenclature</strong>
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<span class="mim-text-font">
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<p>Lamy and Maroteaux (1961) suggested the term hypochondroplasia.</p>
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<h4>
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<strong>Clinical Features</strong>
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<p>Beals (1969) reported 5 kindreds segregating hypochondroplasia. He found that the limbs in this disorder are usually short, without rhizomelia, mesomelia, or acromelia, but may have mild metaphyseal flaring. Brachydactyly and mild limitation in elbow extension can be evident. Spinal manifestations may include anteroposterior shortening of lumbar pedicles. The spinal canal may be narrowed or unchanged caudally. Lumbar lordosis may be evident. </p><p>Specht and Daentl (1975) reported 6 new cases of hypochondroplasia with moderate rhizomelic shortness of stature and normal craniofacial appearance and hand configuration. </p><p>Glasgow et al. (1978) described 3 patients with hypochondroplasia. Clues to the diagnosis were abnormality of body proportions with short limbs and lumbar lordosis, but without the extreme short stature or facial features of achondroplasia, and short, stubby hands and feet. Radiologic features included long bones that were shorter than the normal range for age, as well as broader and slightly bowed with mildly flared metaphyses. Vertebral changes consisted of mild tapering of the spinal canal and low articulation of the sacrum on the iliac bones. The pelvis was small with normal flaring of the iliac wings. Two of the patients had a large head with delayed closure of the fontanels. </p><p>In a review of 39 cases of hypochondroplasia, Hall and Spranger (1979) found that macrocephaly was noted in approximately half of cases. </p><p>Evidence that hypochondroplasia and achondroplasia are allelic disorders came from the observation of the presumed genetic compound in an offspring of an achondroplastic father and a hypochondroplastic mother (McKusick et al., 1973). Sommer et al. (1987) gave a follow-up on this child at age 14 years. The patient had severe neurologic impairment and increased deep tendon reflexes and clonus. She had very little speech and could not walk. Her mental scale was placed at about 1 year when tested at age 10. </p>
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<h4>
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<strong>Inheritance</strong>
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<span class="mim-text-font">
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<p>Beals (1969) described 5 kindreds with clear evidence of autosomal dominant inheritance. Both father-to-daughter and mother-to-daughter transmission have been reported. </p>
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<h4>
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<strong>Diagnosis</strong>
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<p>The diagnosis of hypochondroplasia on clinical and radiologic grounds is often uncertain. Appan et al. (1990) studied growth and growth hormone therapy in 84 patients with hypochondroplasia, which they suggested could be diagnosed on the basis of 'short stature with near-normal craniofacies and the invariable radiographic finding of a failure of increase in the interpedicular distance in the lumbar spine from L1 to L5 in the absence of any other gross measurable radiological abnormality.' If one defines hypochondroplasia as an achondroplasia-like disorder with mutation in the FGFR3 gene, i.e., a mild allelic form of achondroplasia, it is likely that use of the above criteria would lead to many false-positive diagnoses when checked against a complete mutation search of the FGFR3 gene. </p>
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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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<p>Bellus et al. (1995) demonstrated that a recurrent asn540-to-lys mutation (N540K; 134934.0010) in the tyrosine kinase domain of FGFR3 was present in 8 of 14 unrelated patients with hypochondroplasia. Thus, hypochondroplasia and achondroplasia are indeed allelic as are also thanatophoric dysplasia type I (e.g., 134934.0004) and type II (e.g., 134934.0005). Since 6 of the 14 patients with hypochondroplasia did not carry the N540K mutation, hypochondroplasia may be caused by mutation in some other gene or perhaps by other undetected mutations in FGFR3. Review of the medical records of the hypochondroplasia patients revealed no obvious phenotypic differences between individuals who did or did not have the asn540-to-lys mutation of FGFR3. </p><p>Rousseau et al. (1996) examined 13 patients with sporadic hypochondroplasia and 16 probands from familial cases. In all sporadic cases and in 8 of 16 familial cases, the N540K mutation of the FGFR3 gene, located on 4p16.3, was found. In 6 familial cases, linkage to 4p16 was excluded; 2 families were uninformative. Clinical comparison showed that patients unlinked to 4p16 generally had a milder phenotype. </p><p>Prinster et al. (1998) selected 18 patients with a phenotype compatible with hypochondroplasia based on the most common radiologic criteria. The presence of the N540K mutation was verified by restriction enzyme digestions in 9 of the 18 patients. Although similar in phenotype to patients without the mutation, these 9 had the additional feature of relative macrocephaly. Furthermore, the association of the unchanged or narrow interpedicular distance with the fibula longer than the tibia was more common in patients with the N540K mutation. </p><p>Ramaswami et al. (1998) screened 65 children with hypochondroplasia diagnosed by clinical and radiologic criteria for 2 previously described mutations, 1620C-A (134934.0010) and 1620C-G (134934.0012), in FGFR3; 28 (43%) of the 65 patients were heterozygous for the 1620C-A transversion, resulting in a lys540-to-asn substitution in the tyrosine kinase domain of FGFR3. Children with the common 1620C-A mutation met all the criteria for the diagnosis of HCH with a severe phenotype resembling that of achondroplasia, and disproportionate stature in early childhood. Patients without the 1620C-A mutation were proportionately short and presented at an older age with the same radiologic characteristics as in HCH and the same failure of the puberty growth spurt. The latter group did not come to attention until a mean age of 10.45 years, whereas the group with the 1620C-A mutation had a mean age at diagnosis of 5.8 years. </p><p>Huggins et al. (1999) reported an 8-month-old girl with achondroplasia/hypochondroplasia whose father had the G380R achondroplasia mutation (134934.0001) in the FGFR3 gene and whose mother had the N450K hypochondroplasia mutation (134934.0010). Chitayat et al. (1999) simultaneously reported an infant boy with achondroplasia/hypochondroplasia whose mother had the G380R mutation and whose father had the N450K mutation. Molecular analysis confirmed the compound heterozygosity of both children, who displayed an intermediate phenotype that was more severe than either condition in the heterozygous state but less severe than homozygous ACH. </p><p>Mortier et al. (2000) reported a father and daughter with clinical and radiographic features of hypochondroplasia who were heterozygous for an A-to-G transition resulting in the replacement of an asparagine residue at position 540 by a serine residue (134934.0023). They noted the important role of the asn540 site in the tyrosine kinase I domain in the pathogenesis of hypochondroplasia and recommended that, in patients with hypochondroplasia who do not have the common N540K mutation, sequence analysis of the tyrosine kinase I domain of FGFR3 should be performed to exclude other changes in that region. </p><p>Heuertz et al. (2006) screened 18 exons of the FGFR3 gene in 25 patients with hypochondroplasia and 1 with achondroplasia in whom the common mutations G380R and N540K had been excluded. The authors identified 7 novel missense mutations, 1 in the patient with achondroplasia (S279C; 134934.0030) and 6 in patients with hypochondroplasia (see, e.g., Y278C, 134934.0031 and S84L, 134934.0032); no mutations were detected in the remaining 19 patients who were diagnosed clinically with hypochondroplasia. Heuertz et al. (2006) noted that 4 of the 6 extracellular mutations created additional cysteine residues and were associated with severe phenotypes. </p><p>Leroy et al. (2007) identified a missense mutation in the FGFR3 gene (134934.0022) in a girl with a mild form of hypochondroplasia who was also diagnosed with acanthosis nigricans at 8 years of age. </p><p>By using microarray-based next-generation sequencing to study a Chinese woman with hypochondroplasia, Wang et al. (2013) identified a G342C mutation (134934.0036) in the extracellular IgIII loop of FGFR3. The mutation was also found in the woman's fetus when ultrasound scan detected a short femur and dwarfism. Wang et al. (2013) concluded that the sequencing procedure enabled a correct diagnosis, distinguishing HCH from other skeletal dysplasias. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Heterogeneity</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>Mullis et al. (1991) reported findings suggesting that some cases of hypochondroplasia are caused by a defect in insulin-like growth factor I (IGF1; 147440). They studied 20 children with short stature attributed to hypochondroplasia by radiologic and clinical criteria who were undergoing treatment with recombinant human growth hormone. The frequency of a particular heterozygous pattern of restriction fragments was significantly higher in children with hypochondroplasia than in the control groups. The hypochondroplastic children whose response to r-hGH treatment was characterized by a proportionate increase in both spinal and subischial leg length were all heterozygous for 2 coinherited IGF1 RFLP alleles. Those children whose response was characterized by accentuation of the body disproportion by r-hGH treatment were all homozygous for these alleles. Studies of 5 families containing heterozygous children demonstrated strong linkage (lod score = 3.311 at 0 recombination) of the IGF1 locus to this subgroup of hypochondroplasia. An allele at each of 2 RFLP loci were in strong linkage disequilibrium with this trait. </p><p>Stoilov et al. (1995) found the G380R mutation in the FGFR3 gene (134934.0001) in 21 of 23 achondroplasia patients but in none of 8 hypochondroplasia patients studied. Furthermore, linkage studies in a 3-generation family with hypochondroplasia showed discordant segregation with markers in the 4p16.3 region where the achondroplasia locus is situated, suggesting that at least some cases of hypochondroplasia are caused by mutations in a gene other than FGFR3. </p><p>Genetic heterogeneity of hypochondroplasia seemed to be evident in the patients reported by Flynn and Pauli (2003), who were thought to be double heterozygotes for mutations at the FGFR3 locus and another unidentified locus. The female probands were dichorionic, diamniotic twins born to a mother with achondroplasia and a father with hypochondroplasia. Mutation of the FGFR3 gene was not identified in the father by either molecular testing for the common hypochondroplasia mutation or by sequencing of the FGFR3 gene. </p>
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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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Stoilov et al. (1995)
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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>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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Appan, S., Laurent, S., Chapman, M., Hindmarsh, P. C., Brook, C. G. D.
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<strong>Growth and growth hormone therapy in hypochondroplasia.</strong>
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Acta Paediat. Scand. 79: 796-803, 1990.
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[PubMed: 2239275]
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[Full Text: https://doi.org/10.1111/j.1651-2227.1990.tb11557.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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Beals, R. K.
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<strong>Hypochondroplasia: a report of five kindreds.</strong>
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J. Bone Joint Surg. Am. 51: 728-736, 1969.
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[PubMed: 5783850]
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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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Bellus, G. A., McIntosh, I., Smith, E. A., Aylsworth, A. S., Kaitila, I., Horton, W. A., Greenhaw, G. A., Hecht, J. T., Francomano, C. A.
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<strong>A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.</strong>
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Nature Genet. 10: 357-359, 1995.
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Chitayat, D., Fernandez, B., Gardner, A., Moore, L., Glance, P., Dunn, M., Chun, K., Sgro, M., Ray, P., Allingham-Hawkins, D.
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<strong>Compound heterozygosity for the achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.</strong>
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Am. J. Med. Genet. 84: 401-405, 1999.
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<p class="mim-text-font">
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Flynn, M. A., Pauli, R. M.
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<strong>Double heterozygosity in bone growth disorders: four new observations and review.</strong>
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Am. J. Med. Genet. 121A: 193-208, 2003.
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<p class="mim-text-font">
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Glasgow, J. F., Nevin, N. C., Thomas, P. S.
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<strong>Hypochondroplasia.</strong>
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Arch. Dis. Child. 53: 868-872, 1978.
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[PubMed: 727810]
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[Full Text: https://doi.org/10.1136/adc.53.11.868]
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<p class="mim-text-font">
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Hall, B. D., Spranger, J.
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<strong>Hypochondroplasia: clinical and radiological aspects in 39 cases.</strong>
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Radiology 133: 95-100, 1979.
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[PubMed: 472320]
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[Full Text: https://doi.org/10.1148/133.1.95]
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<li>
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<p class="mim-text-font">
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Heuertz, S., Le Merrer, M., Zabel, B., Wright, M., Legeai-Mallet, L., Cormier-Daire, V., Gibbs, L., Bonaventure, J.
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<strong>Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.</strong>
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Europ. J. Hum. Genet. 14: 1240-1247, 2006. Note: Erratum: Europ. J. Hum. Genet. 14: 1321 only, 2006.
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[PubMed: 16912704]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5201700]
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Huggins, M. J., Smith, J. R., Chun, K., Ray, P. N., Shah, J. K., Whelan, D. T.
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<strong>Achondroplasia-hypochondroplasia complex in a newborn infant.</strong>
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Am. J. Med. Genet. 84: 396-400, 1999.
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[PubMed: 10360392]
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<p class="mim-text-font">
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Lamy, M., Maroteaux, P.
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<strong>Les Chondrodystrophies Genotypiques.</strong>
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Paris: L'Expansion Scientifique Francaise (pub.) 1961. P. 26.
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<p class="mim-text-font">
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Leroy, J. G., Nuytinck, L., Lambert, J., Naeyaert, J.-M., Mortier, G. R.
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<strong>Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.</strong>
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Am. J. Med. Genet. 143A: 3144-3149, 2007.
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[PubMed: 18000903]
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[Full Text: https://doi.org/10.1002/ajmg.a.31966]
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<p class="mim-text-font">
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McKusick, V. A., Kelly, T. E., Dorst, J. P.
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<strong>Observations suggesting allelism of the achondroplasia and hypochondroplasia genes.</strong>
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J. Med. Genet. 10: 11-16, 1973.
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[PubMed: 4697848]
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[Full Text: https://doi.org/10.1136/jmg.10.1.11]
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<p class="mim-text-font">
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Mortier, G., Nuytinck, L., Craen, M., Renard, J.-P., Leroy, J. G., De Paepe, A.
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<strong>Clinical and radiographic features of a family with hypochondroplasia owing to a novel asn540ser mutation in the fibroblast growth factor receptor 3 gene.</strong>
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J. Med. Genet. 37: 220-224, 2000.
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[PubMed: 10777366]
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[Full Text: https://doi.org/10.1136/jmg.37.3.220]
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<p class="mim-text-font">
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Mullis, P. E., Patel, M. S., Brickell, P. M., Hindmarsh, P. C., Brook, C. G. D.
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<strong>Growth characteristics and response to growth hormone therapy in patients with hypochondroplasia: genetic linkage of the insulin-like growth factor I gene at chromosome 12q23 to the disease in a subgroup of these patients.</strong>
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Clin. Endocr. 34: 265-274, 1991.
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[PubMed: 1879059]
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[Full Text: https://doi.org/10.1111/j.1365-2265.1991.tb03765.x]
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<p class="mim-text-font">
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Prinster, C., Carrera, P., Del Maschio, M., Weber, G., Maghnie, M., Vigone, M. C., Mora, S., Tonini, G., Rigon, F., Beluffi, G., Severi, F., Chiumello, G., Ferrari, M.
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<strong>Comparison of clinical-radiological and molecular findings in hypochondroplasia.</strong>
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Am. J. Med. Genet. 75: 109-112, 1998.
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[PubMed: 9450868]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(19980106)75:1<109::aid-ajmg22>3.0.co;2-p]
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<p class="mim-text-font">
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Ramaswami, U., Rumsby, G., Hindmarsh, P. C., Brook, C. G. D.
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<strong>Genotype and phenotype in hypochondroplasia.</strong>
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J. Pediat. 133: 99-102, 1998.
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[PubMed: 9672519]
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[Full Text: https://doi.org/10.1016/s0022-3476(98)70186-6]
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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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Rousseau, F., Bonaventure, J., Legeai-Mallet, L., Schmidt, H., Weissenbach, J., Maroteaux, P., Munnich, A., Le Merrer, M.
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<strong>Clinical and genetic heterogeneity of hypochondroplasia.</strong>
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J. Med. Genet. 33: 749-752, 1996.
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[PubMed: 8880574]
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[Full Text: https://doi.org/10.1136/jmg.33.9.749]
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</li>
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<li>
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<p class="mim-text-font">
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Sommer, A., Young-Wee, T., Frye, T.
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<strong>Achondroplasia-hypochondroplasia complex.</strong>
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Am. J. Med. Genet. 26: 949-957, 1987.
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[PubMed: 3591840]
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[Full Text: https://doi.org/10.1002/ajmg.1320260426]
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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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Specht, E. E., Daentl, D. L.
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<strong>Hypochondroplasia.</strong>
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Clin. Orthop. Relat. Res. 110: 249-255, 1975.
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[PubMed: 1098822]
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[Full Text: https://doi.org/10.1097/00003086-197507000-00036]
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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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Stoilov, I., Kilpatrick, M. W., Tsipouras, P., Costa, T.
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<strong>Possible genetic heterogeneity in hypochondroplasia. (Letter)</strong>
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J. Med. Genet. 32: 492-493, 1995.
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[PubMed: 7666407]
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[Full Text: https://doi.org/10.1136/jmg.32.6.492-a]
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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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Stoilov, I., Kilpatrick, M. W., Tsipouras, P.
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<strong>A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia.</strong>
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Am. J. Med. Genet. 55: 127-133, 1995.
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[PubMed: 7702086]
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[Full Text: https://doi.org/10.1002/ajmg.1320550132]
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</p>
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<li>
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<p class="mim-text-font">
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Walker, B. A., Murdoch, J. L., McKusick, V. A., Langer, L. O., Jr., Beals, R. K.
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<strong>Hypochondroplasia.</strong>
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Am. J. Dis. Child. 122: 95-104, 1971.
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[PubMed: 5564166]
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[Full Text: https://doi.org/10.1001/archpedi.1971.02110020029001]
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</li>
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<li>
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<p class="mim-text-font">
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Wang, H., Sun, Y., Wu, W., Wei, X., Lan, Z., Xie, J.
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<strong>A novel missense mutation of FGFR3 in a Chinese female and her fetus with hypochondroplasia by next-generation sequencing.</strong>
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Clin. Chim. Acta 423: 62-65, 2013.
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[PubMed: 23726269]
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[Full Text: https://doi.org/10.1016/j.cca.2013.04.015]
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Paul J. Converse - updated : 2/5/2014<br>Nara Sobreira - updated : 7/14/2009<br>Marla J. F. O'Neill - updated : 3/2/2007<br>Marla J. F. O'Neill - updated : 6/30/2004<br>Victor A. McKusick - updated : 10/8/2003<br>Michael J. Wright - updated : 1/11/2001<br>Victor A. McKusick - updated : 9/2/1998<br>Victor A. McKusick - updated : 2/18/1997<br>Iosif W. Lurie - updated : 12/4/1996
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Victor A. McKusick : 6/2/1986
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