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Entry
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- #308050 - CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
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- OMIM
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<p>
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<span class="h4">#308050</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="/clinicalSynopsis/308050"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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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=CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS" 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=2136&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/NBK51754/" 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/1331" 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/child-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=308050[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=139" 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/e4758296-237f-4112-b0cf-8ebecc1dc499/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div class="panel-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:0111822" 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/308050" 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/OMIA002117/" 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:0111822" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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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> 17608003<br />
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<strong>ORPHA:</strong> 139<br />
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<strong>DO:</strong> 0111822<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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308050
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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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CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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CHILD SYNDROME<br />
|
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ICHTHYOSIFORM ERYTHRODERMA, UNILATERAL, WITH IPSILATERAL MALFORMATIONS, ESPECIALLY ABSENCE DEFORMITY OF LIMBS
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/X/820?start=-3&limit=10&highlight=820">
|
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Xq28
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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CHILD syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/308050"> 308050 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
|
|
|
|
</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">
|
|
NSDHL
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300275"> 300275 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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|
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<div>
|
|
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|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/308050" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
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|
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|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/308050" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/308050" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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|
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<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
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|
|
|
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|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- X-linked dominant <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847879&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847879</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span><br />
|
|
|
|
</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> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mild prenatal growth deficiency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840006&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840006</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008883" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008883</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008883" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008883</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22033007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22033007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/764.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.90</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/764.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.9</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> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hearing loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/103276001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">103276001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/343087000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">343087000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15188001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15188001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H91.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011053</a>, <a href="https://bioportal.bioontology.org/search?q=C0018772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018772</a>, <a href="https://bioportal.bioontology.org/search?q=C1384666&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1384666</a>, <a href="https://bioportal.bioontology.org/search?q=C3887873&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887873</a>, <a href="https://bioportal.bioontology.org/search?q=C2029884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2029884</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cleft lip <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80281008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80281008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q36" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q36</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q36.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q36.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008924</a>, <a href="https://bioportal.bioontology.org/search?q=C4321245&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4321245</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000204" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000204</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0410030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410030</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0410030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410030</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Septal defects <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253273004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253273004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5779791&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5779791</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001671" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001671</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001671" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001671</a>]</span><br /> -
|
|
Single coronary ostium <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840019&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840019</a>]</span><br /> -
|
|
Single ventricle <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45503006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45503006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q20.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q20.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152424&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152424</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001750</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001750</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Lung </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ipsilateral lung hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840018&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840018</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ribs Sternum Clavicles & Scapulae </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Unilateral clavicular, scapular, rib hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840005</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Features </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Umbilical hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396347007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396347007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K42.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K42.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/553.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">553.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019322&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019322</a>, <a href="https://bioportal.bioontology.org/search?q=C0041636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0041636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001537</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001537</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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</div>
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Internal Genitalia (Female) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ipsilateral ovarian hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840002</a>]</span><br /> -
|
|
Ipsilateral fallopian tube hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840003&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840003</a>]</span><br />
|
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|
|
</span>
|
|
</div>
|
|
</div>
|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ipsilateral renal agenesis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840004&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840004</a>]</span><br /> -
|
|
Hydronephrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43064006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43064006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.30</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/591" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">591</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020295</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skull </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ipsilateral mandibular hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840007&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pelvis </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Unilateral pelvic hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840008&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840008</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">
|
|
|
|
- Unilateral hypomelia (digital hypoplasia to complete limb absence) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840009&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840009</a>]</span><br /> -
|
|
Elbow webbing <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/784351000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">784351000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867439</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009760" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009760</a>]</span><br /> -
|
|
Knee webbing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840011&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840011</a>]</span><br /> -
|
|
Joint contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7890003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7890003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/718.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.4</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/718.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009918&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009918</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034392" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034392</a>]</span><br /> -
|
|
Ipsilateral epiphyseal stippling <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840012&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840012</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Unilateral erythema and scaling (present at birth or soon after birth, face is spared) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840015&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840015</a>]</span><br /> -
|
|
Sharp midline demarcation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840016&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840016</a>]</span><br /> -
|
|
Hyperkeratosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254666005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254666005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399955009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399955009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26996000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26996000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0870082&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0870082</a>, <a href="https://bioportal.bioontology.org/search?q=C0022593&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022593</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000962" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000962</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000962" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000962</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nails </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Onychorrhexis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85136002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85136002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263530&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263530</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001809" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001809</a>]</span><br /> -
|
|
Destruction of nails <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240435&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240435</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hair </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
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- Unilateral alopecia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840017&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840017</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278040002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278040002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56317004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56317004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L65.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L65.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/704.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/704.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.0</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001596" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001596</a>]</span><br />
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<span class="h5 mim-font">
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<strong> NEUROLOGIC </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="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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- Mild mental retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86765009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86765009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026106&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026106</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001256</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001256</a>]</span><br /> -
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Ipsilateral brain hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840000&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840000</a>]</span><br /> -
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Ipsilateral cranial nerve hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840001&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840001</a>]</span><br />
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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> ENDOCRINE FEATURES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Ipsilateral thyroid gland hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839998&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839998</a>]</span><br /> -
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Ipsilateral adrenal gland hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839999&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839999</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Elevated 8-dehydrocholesterol <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840013&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840013</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003462" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003462</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003462" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003462</a>]</span><br /> -
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Elevated 8(9)-cholestenol <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840014&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840014</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003465" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003465</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003465" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003465</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- CHILD is an acronym for Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects<br /> -
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Right side affected greater than left side<br /> -
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Left side involvement associated with serious cardiac defect<br /> -
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Genetic heterogeneity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutations in the NAD(P)H steroid dehydrogenase-like protein gene (NSDHL, <a href="/entry/300275#0001">300275.0001</a>)<br /> -
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Caused by mutations in the emopamil-binding protein gene (EBP, <a href="/entry/300205#0006">300205.0006</a>)<br />
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</span>
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</div>
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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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<div>
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<br />
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</div>
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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 CHILD syndrome is caused by mutation in the NSDHL (<a href="/entry/300275">300275</a>) on chromosome Xq28.</p>
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<div>
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<br />
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<div>
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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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</h4>
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<p>CHILD syndrome is an acronym for an X-linked dominant disorder characterized by congenital hemidysplasia with ichthyosiform erythroderma and limb defects. The mutations are lethal in hemizygous males (<a href="#6" class="mim-tip-reference" title="Happle, R., Koch, H., Lenz, W. <strong>The CHILD syndrome: congenital hemidysplasia with ichthyosiform erythroderma and limb defects.</strong> Europ. J. Pediat. 134: 27-33, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7408908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7408908</a>] [<a href="https://doi.org/10.1007/BF00442399" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7408908">Happle et al., 1980</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7408908" 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>CK syndrome (<a href="/entry/300831">300831</a>), an X-linked recessive mental retardation syndrome, is an allelic disorder with a less severe phenotype.</p>
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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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</h4>
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<p><a href="#3" class="mim-tip-reference" title="Falek, A., Heath, C. W., Jr., Ebbin, A. J., McLean, W. R. <strong>Unilateral limb and skin deformities with congenital heart disease in two siblings: a lethal syndrome.</strong> J. Pediat. 73: 910-913, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5696317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5696317</a>] [<a href="https://doi.org/10.1016/s0022-3476(68)80247-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5696317">Falek et al. (1968)</a> described sibs with this combination, and other familial cases are known. <a href="#17" class="mim-tip-reference" title="Tang, T. T., McCreadie, S. R. <strong>Congenital hemidysplasia with ichthyosis.</strong> Birth Defects Orig. Art. Ser. 10(5): 257-261, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4620143/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4620143</a>]" pmid="4620143">Tang and McCreadie (1974)</a> described in brief the autopsy findings in a case. Many organs were asymmetric with hypoplasia on the side of ichthyosis and limb malformation. These included lung, thyroid, psoas muscle, cranial nerves V, VII, VIII, IX and X, pons, medulla, cerebellum and spinal cord. Striking cross-sectional views of the pons and medulla were presented. <a href="#6" class="mim-tip-reference" title="Happle, R., Koch, H., Lenz, W. <strong>The CHILD syndrome: congenital hemidysplasia with ichthyosiform erythroderma and limb defects.</strong> Europ. J. Pediat. 134: 27-33, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7408908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7408908</a>] [<a href="https://doi.org/10.1007/BF00442399" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7408908">Happle et al. (1980)</a> used the acronymic designation 'CHILD syndrome': congenital hemidysplasia with ichthyosiform erythroderma and limb defects. <a href="#15" class="mim-tip-reference" title="Opitz, J. M. <strong>Personal Communication.</strong> Helena, Montana 4/1982."None>Opitz (1982)</a> urged use of the term 'deficiency' rather than 'absence deformity.' <a href="#6" class="mim-tip-reference" title="Happle, R., Koch, H., Lenz, W. <strong>The CHILD syndrome: congenital hemidysplasia with ichthyosiform erythroderma and limb defects.</strong> Europ. J. Pediat. 134: 27-33, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7408908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7408908</a>] [<a href="https://doi.org/10.1007/BF00442399" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7408908">Happle et al. (1980)</a> reviewed 18 cases that were earlier reported under various designations and added 2 more. They suggested that the syndrome may be inherited as an X-linked dominant trait with lethality in hemizygous males (<a href="#18" class="mim-tip-reference" title="Wettke-Schafer, R., Kantner, G. <strong>X-linked dominant inherited diseases with lethality in hemizygous males.</strong> Hum. Genet. 64: 1-23, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6873941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6873941</a>] [<a href="https://doi.org/10.1007/BF00289472" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6873941">Wettke-Schafer and Kantner, 1983</a>). The basis for the suggestion was: sex ratio of 19 females to 1 male, an 11:3 ratio of unaffected sisters to unaffected brothers, and the observation of 5 miscarriages and 1 male stillbirth in the affected sibships. Although the linear distribution of skin lesions is consistent with lyonization, the unilateral involvement necessitates an auxiliary hypothesis. <a href="#7" class="mim-tip-reference" title="Hebert, A. A., Esterly, N. B., Holbrook, K. A., Hall, J. C. <strong>The CHILD syndrome: histologic and ultrastructural studies.</strong> Arch. Derm. 123: 503-509, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3827283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3827283</a>]" pmid="3827283">Hebert et al. (1987)</a> reported a case, bringing the total number of cases to 29 (28 female; 1 male). Their patient had associated Shone syndrome ('parachute mitral valve,' supravalvular ring of the left atrium, subaortic stenosis, coarctation of the aorta) and meningomyelocele. Because of phenotypic overlap with chondrodysplasia punctata (<a href="/entry/215100">215100</a>), in which a peroxisomal defect has been identified, <a href="#2" class="mim-tip-reference" title="Emami, S., Rizzo, W. B., Hanley, K. P., Taylor, J. M., Goldyne, M. E., Williams, M. L. <strong>Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome: case study and review of peroxisomal disorders in relation to skin disease.</strong> Arch. Derm. 128: 1213-1222, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1519936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1519936</a>]" pmid="1519936">Emami et al. (1992)</a> did studies of peroxisome morphology and function in fibroblasts from involved versus uninvolved skin in a patient with CHILD syndrome. They found that fibroblasts from involved skin accumulated cytoplasmic lipid, visualized with the fluorescent probe nile-red. Ultrastructurally, fibroblasts of involved skin accumulated lamellated membrane and vacuolar structures. By diaminobenzidine ultracytochemistry, fewer peroxisomes were present. Moreover, the activities of 2 peroxisomal enzymes, catalase and dihydroxyacetone phosphate acyltransferase were both about 30% of normal. However, peroxisomal oxidation of very long chain and branched-chain fatty acids was preserved. Moreover, the plasma content of very long chain fatty acids and phytanic acid, as well as red cell content of plasmalogen, was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4620143+1519936+5696317+3827283+6873941+7408908" 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>As an exception to the rule that the CHILD syndrome is observed only in females, <a href="#5" class="mim-tip-reference" title="Happle, R., Effendy, I., Megahed, M., Orlow, S. J., Kuster, W. <strong>CHILD syndrome in a boy.</strong> Am. J. Med. Genet. 62: 192-194, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8882402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8882402</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960315)62:2<192::AID-AJMG14>3.0.CO;2-J" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8882402">Happle et al. (1996)</a> described the case of a 2-year-old boy of Egyptian origin born of healthy unrelated parents. At birth, a severely deformed right leg and an inflammatory ichthyosiform skin lesion involving the right side of the body were noted. Cytogenetic analysis of peripheral blood lymphocytes showed a normal male karyotype 46,XY. Despite dermabrasion of parts of the lesion involving the trunk under general anesthesia, the CHILD nevus had completely recurred in the treated area 8 months later. Some functional improvement was achieved by orthopedic surgical correction of the dislocated right knee joint and right foot. Exceptionally, males are known to be affected by other X-linked dominant, male-lethal traits such as incontinentia pigmenti (<a href="/entry/308300">308300</a>), focal dermal hypoplasia (<a href="/entry/305600">305600</a>), and oral-facial-digital syndrome I (<a href="/entry/311200">311200</a>). Some of these cases have the Klinefelter syndrome with a 47,XXY karyotype, but the remaining patients have a normal karyotype 46,XY. <a href="#5" class="mim-tip-reference" title="Happle, R., Effendy, I., Megahed, M., Orlow, S. J., Kuster, W. <strong>CHILD syndrome in a boy.</strong> Am. J. Med. Genet. 62: 192-194, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8882402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8882402</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960315)62:2<192::AID-AJMG14>3.0.CO;2-J" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8882402">Happle et al. (1996)</a> stated that such cases can be best explained either by a postzygotic mutation or by a gametic half-chromatid mutation (<a href="#12" class="mim-tip-reference" title="Lenz, W. <strong>Half chromatid mutations may explain incontinentia pigmenti in males. (Letter)</strong> Am. J. Hum. Genet. 27: 690-691, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1163541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1163541</a>]" pmid="1163541">Lenz, 1975</a>). In view of the pattern of lateralization of the lesions, <a href="#5" class="mim-tip-reference" title="Happle, R., Effendy, I., Megahed, M., Orlow, S. J., Kuster, W. <strong>CHILD syndrome in a boy.</strong> Am. J. Med. Genet. 62: 192-194, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8882402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8882402</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960315)62:2<192::AID-AJMG14>3.0.CO;2-J" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8882402">Happle et al. (1996)</a> concluded that a postzygotic mutation appears more likely than a gametic half-chromatid mutation, which would be expected to give rise to a more finely distributed, bilateral pattern. The authors noted that, according to this concept, XY men with CHILD syndrome can transmit the trait to their daughters, provided the underlying postzygotic mutation has occurred rather early and involves the gonads. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1163541+8882402" 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="#14" class="mim-tip-reference" title="Martinez, R., Pena, C., Quiroga-Carrillo, M., Ordonez-Reyes, C., Rincon, J., Suarez-Obando, F., Nossa, S., Garcia, M. F. <strong>Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report.</strong> Clin. Dysmorph. 31: 162-166, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35394469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35394469</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000422" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35394469">Martinez et al. (2022)</a> reported a 37-year-old female patient with CHILD syndrome. She presented at birth with ichthyosiform erythroderma lesions in the abdomen and the proximal third of the right leg following the midline. She also had longitudinal discrepancy of the right leg. When first evaluated at 33 years of age, she had 3.8 cm shortening of her right arm and 4.3 cm shortening of her right fifth finger. Right leg hypoplasia was noted, with a 23 cm shortening. She had a right ichthyosiform nevus in the hypoplastic leg, low hemiabdomen, and lumbar region. Flexion at the right hip and knee were limited to 95 degrees, but joint extension was complete. Her trochanteric prominence angle was 15 degrees, and she had anterior cruciate insufficiency, right genu valgum, and a right flexible flat valgus foot. She also had dorsolumbar scoliosis with left convexity and a vertebral hemangioma in L2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35394469" 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>Because of the clinical similarities between X-linked dominant Conradi-Hunermann syndrome (CDPX2; <a href="/entry/302960">302960</a>) and CHILD syndrome, <a href="#4" class="mim-tip-reference" title="Grange, D. K., Kratz, L. E., Braverman, N. E., Kelley, R. I. <strong>CHILD syndrome caused by deficiency of 3-beta-hydroxysteroid-delta-8, delta-7-isomerase.</strong> Am. J. Med. Genet. 90: 328-335, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10710233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10710233</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(20000214)90:4<328::aid-ajmg13>3.0.co;2-f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10710233">Grange et al. (2000)</a> analyzed plasma sterols in a patient with typical CHILD syndrome. The levels of 8-dehydrocholesterol and 8(9)-cholestenol were increased in this patient to the same degree as in CDPX2 patients. The authors subsequently identified a nonsense mutation in exon 3 of the patient's 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase gene (<a href="/entry/300205#0006">300205.0006</a>). The authors suggested that at least some cases of CHILD syndrome are caused by 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase deficiency and are allelic to CDPX2, although the almost exclusively unilateral distribution of abnormalities in CHILD syndrome versus the bilateral disease of CDPX2 remains to be explained. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10710233" 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="Herman, G. E. <strong>Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes.</strong> Hum. Molec. Genet. 12(R1): R75-R88, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12668600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12668600</a>] [<a href="https://doi.org/10.1093/hmg/ddg072" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12668600">Herman (2003)</a> reviewed the cholesterol biosynthetic pathway and the 6 disorders involving enzyme defects in post-squalene cholesterol biosynthesis: Smith-Lemli-Opitz syndrome (SLOS; <a href="/entry/270400">270400</a>), desmosterolosis (<a href="/entry/602398">602398</a>), CDPX2, CHILD syndrome, lathosterolosis (<a href="/entry/607330">607330</a>), and hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM; <a href="/entry/215140">215140</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12668600" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#10" class="mim-tip-reference" title="Konig, A., Happle, R., Bornholdt, D., Engel, H., Grzeschik, K.-H. <strong>Mutations in the NSDHL gene, encoding a 3-beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.</strong> Am. J. Med. Genet. 90: 339-346, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10710235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10710235</a>]" pmid="10710235">Konig et al. (2000)</a> analyzed 6 patients with CHILD syndrome for mutations in the NSDHL gene at Xq28 and in the EBP gene, which functions downstream of NSDHL in a later step of cholesterol biosynthesis. Four of the cases were sporadic, including one in a previously reported 46,XY male (<a href="#5" class="mim-tip-reference" title="Happle, R., Effendy, I., Megahed, M., Orlow, S. J., Kuster, W. <strong>CHILD syndrome in a boy.</strong> Am. J. Med. Genet. 62: 192-194, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8882402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8882402</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960315)62:2<192::AID-AJMG14>3.0.CO;2-J" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8882402">Happle et al., 1996</a>), and 2 cases were familial, in a mother and her daughter. No mutations were identified in the EBP gene; however, mutations were identified in the NSDHL gene in all of the patients. The NSDHL mutations included 2 missense mutations (<a href="/entry/300275#0001">300275.0001</a>-<a href="/entry/300275#0002">300275.0002</a>) and 2 nonsense mutations (<a href="/entry/300275#0003">300275.0003</a>-<a href="/entry/300275#0004">300275.0004</a>). One of these mutations was found in both the mother and daughter and in another patient, although based on their family history and ethnic background, they were highly unlikely to be related. The authors concluded that CHILD syndrome can be added to the list of developmental defects associated with mutations affecting cholesterol synthesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10710235+8882402" 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="Konig, A., Happle, R., Fink-Puches, R., Soyer, H. P., Bornholdt, D., Engel, H., Grzeschik, K.-H. <strong>A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.</strong> J. Am. Acad. Derm. 46: 594-596, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11907515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11907515</a>] [<a href="https://doi.org/10.1067/mjd.2002.113680" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11907515">Konig et al. (2002)</a> identified a novel missense mutation in NSDHL (<a href="/entry/300275#0005">300275.0005</a>), that potentially may impair protein function, in a patient with an almost symmetric CHILD nevus. They concluded that a diagnosis of CHILD syndrome can be based on clinical features such as the highly characteristic morphology of the CHILD nevus. A symmetric distribution of this nevus can exceptionally be seen in patients with CHILD syndrome, and this bilateral involvement should not mislead the clinician to any other diagnosis. They proposed that the effect of random X inactivation is responsible for different patterns of cutaneous involvement in female carriers of NSDHL mutations. <a href="#11" class="mim-tip-reference" title="Konig, A., Happle, R., Fink-Puches, R., Soyer, H. P., Bornholdt, D., Engel, H., Grzeschik, K.-H. <strong>A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.</strong> J. Am. Acad. Derm. 46: 594-596, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11907515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11907515</a>] [<a href="https://doi.org/10.1067/mjd.2002.113680" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11907515">Konig et al. (2002)</a> asserted that CHILD syndrome is not caused by mutations in EBP, the gene involved in X-linked dominant chondrodysplasia punctata (CDPX2). They pointed out that an X-linked dominant disorder usually showing an asymmetric involvement, such as CDPX2, may give rise by way of exception to extreme lateralization, whereas the CHILD syndrome usually shows extreme lateralization but may exceptionally manifest itself in almost symmetrically arranged skin lesions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11907515" 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="Hummel, M., Cunningham, D., Mullett, C. J., Kelley, R. I., Herman, G. E. <strong>Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene.</strong> Am. J. Med. Genet. 122A: 246-251, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12966526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12966526</a>] [<a href="https://doi.org/10.1002/ajmg.a.20248" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12966526">Hummel et al. (2003)</a> reported a novel mutation in the NSDHL gene (E151X; <a href="/entry/300275#0006">300275.0006</a>) in a female infant with left-sided CHILD syndrome, demonstrating that both right- and left-sided CHILD syndrome can be caused by mutations in the same gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12966526" 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 37-year-old female with CHILD syndrome including torsional and angular deformities of the limbs, <a href="#14" class="mim-tip-reference" title="Martinez, R., Pena, C., Quiroga-Carrillo, M., Ordonez-Reyes, C., Rincon, J., Suarez-Obando, F., Nossa, S., Garcia, M. F. <strong>Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report.</strong> Clin. Dysmorph. 31: 162-166, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35394469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35394469</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000422" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35394469">Martinez et al. (2022)</a> reported a novel 3-basepair deletion in the NSDHL gene (c.896_898del), resulting in deletion of the amino acid valine at position 299 (val299del). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35394469" 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="#Cullen1969" class="mim-tip-reference" title="Cullen, S. I., Harris, D. E., Carter, C. H., Reed, W. B. <strong>Congenital unilateral ichthyosiform erythroderma.</strong> Arch. Derm. 99: 724-729, 1969.">Cullen et al. (1969)</a>; <a href="#Lewis1970" class="mim-tip-reference" title="Lewis, R. G., Messner, D. G. <strong>Prosthetic fitting of congenital unilateral ichthyosiform erythroderma: a case report.</strong> Inter-Clinic Inform. Bull. 9(11): 1-6, 1970.">Lewis and Messner (1970)</a>; <a href="#Shear1971" class="mim-tip-reference" title="Shear, C. S., Nyhan, W. L., Frost, P., Weinstein, G. D. <strong>Syndromes of unilateral ectromelia, psoriasis and central nervous system anomalies.</strong> Birth Defects Orig. Art. Ser. VII(8): 197-203, 1971.">Shear et al. (1971)</a>
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[<a href="https://doi.org/10.1016/s0022-3476(68)80247-1" target="_blank">Full Text</a>]
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Grange, D. K., Kratz, L. E., Braverman, N. E., Kelley, R. I.
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<strong>CHILD syndrome caused by deficiency of 3-beta-hydroxysteroid-delta-8, delta-7-isomerase.</strong>
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[<a href="https://doi.org/10.1002/(sici)1096-8628(20000214)90:4<328::aid-ajmg13>3.0.co;2-f" target="_blank">Full Text</a>]
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<strong>CHILD syndrome in a boy.</strong>
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[<a href="https://doi.org/10.1002/(SICI)1096-8628(19960315)62:2<192::AID-AJMG14>3.0.CO;2-J" target="_blank">Full Text</a>]
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<strong>The CHILD syndrome: congenital hemidysplasia with ichthyosiform erythroderma and limb defects.</strong>
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[<a href="https://doi.org/10.1007/BF00442399" target="_blank">Full Text</a>]
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<strong>The CHILD syndrome: histologic and ultrastructural studies.</strong>
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[<a href="https://doi.org/10.1093/hmg/ddg072" target="_blank">Full Text</a>]
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<a id="Hummel2003" class="mim-anchor"></a>
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<strong>Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12966526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12966526</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12966526" 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.20248" target="_blank">Full Text</a>]
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<a id="Konig2000" class="mim-anchor"></a>
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<strong>Mutations in the NSDHL gene, encoding a 3-beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10710235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10710235</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10710235" 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="Konig2002" class="mim-anchor"></a>
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<strong>A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.</strong>
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J. Am. Acad. Derm. 46: 594-596, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11907515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11907515</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11907515" 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/10.1067/mjd.2002.113680" target="_blank">Full Text</a>]
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<a id="Lenz1975" class="mim-anchor"></a>
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<a id="Lewis1970" class="mim-anchor"></a>
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<a id="Martinez2022" class="mim-anchor"></a>
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Martinez, R., Pena, C., Quiroga-Carrillo, M., Ordonez-Reyes, C., Rincon, J., Suarez-Obando, F., Nossa, S., Garcia, M. F.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35394469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35394469</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35394469" 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/MCD.0000000000000422" target="_blank">Full Text</a>]
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<a id="Opitz1982" class="mim-anchor"></a>
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<a id="Shear1971" class="mim-anchor"></a>
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<strong>Syndromes of unilateral ectromelia, psoriasis and central nervous system anomalies.</strong>
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Tang, T. T., McCreadie, S. R.
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<strong>Congenital hemidysplasia with ichthyosis.</strong>
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Birth Defects Orig. Art. Ser. 10(5): 257-261, 1974.
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<div class="">
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Wettke-Schafer, R., Kantner, G.
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<strong>X-linked dominant inherited diseases with lethality in hemizygous males.</strong>
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Hum. Genet. 64: 1-23, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6873941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6873941</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6873941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00289472" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 09/14/2022
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<span class="mim-text-font">
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George E. Tiller - updated : 3/3/2005<br>Felicity Collins - updated : 12/5/2003<br>Gary A. Bellus - updated : 4/5/2002<br>Sonja A. Rasmussen - updated : 4/24/2000<br>Victor A. McKusick - updated : 9/23/1999
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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alopez : 09/14/2022
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carol : 10/10/2020<br>wwang : 02/09/2011<br>ckniffin : 2/7/2011<br>alopez : 3/3/2005<br>carol : 12/5/2003<br>carol : 4/18/2003<br>alopez : 4/5/2002<br>alopez : 4/5/2002<br>carol : 10/30/2000<br>terry : 4/24/2000<br>terry : 4/21/2000<br>mgross : 10/7/1999<br>mgross : 10/7/1999<br>terry : 9/23/1999<br>alopez : 7/29/1997<br>alopez : 7/8/1997<br>terry : 5/2/1996<br>mark : 4/25/1996<br>terry : 4/18/1996<br>warfield : 4/20/1994<br>mimadm : 2/27/1994<br>carol : 12/17/1992<br>carol : 10/22/1992<br>supermim : 3/17/1992<br>supermim : 3/20/1990
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<span class="mim-font">
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<strong>#</strong> 308050
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</h3>
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<h3>
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CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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CHILD SYNDROME<br />
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ICHTHYOSIFORM ERYTHRODERMA, UNILATERAL, WITH IPSILATERAL MALFORMATIONS, ESPECIALLY ABSENCE DEFORMITY OF LIMBS
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<strong>SNOMEDCT:</strong> 17608003;
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<strong>ORPHA:</strong> 139;
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<strong>DO:</strong> 0111822;
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<h4>
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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Xq28
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<span class="mim-font">
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CHILD syndrome
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<span class="mim-font">
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308050
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<span class="mim-font">
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X-linked dominant
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<span class="mim-font">
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3
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NSDHL
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<span class="mim-font">
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300275
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<span class="mim-font">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that CHILD syndrome is caused by mutation in the NSDHL (300275) on chromosome Xq28.</p>
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<strong>Description</strong>
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<p>CHILD syndrome is an acronym for an X-linked dominant disorder characterized by congenital hemidysplasia with ichthyosiform erythroderma and limb defects. The mutations are lethal in hemizygous males (Happle et al., 1980). </p><p>CK syndrome (300831), an X-linked recessive mental retardation syndrome, is an allelic disorder with a less severe phenotype.</p>
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<strong>Clinical Features</strong>
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<p>Falek et al. (1968) described sibs with this combination, and other familial cases are known. Tang and McCreadie (1974) described in brief the autopsy findings in a case. Many organs were asymmetric with hypoplasia on the side of ichthyosis and limb malformation. These included lung, thyroid, psoas muscle, cranial nerves V, VII, VIII, IX and X, pons, medulla, cerebellum and spinal cord. Striking cross-sectional views of the pons and medulla were presented. Happle et al. (1980) used the acronymic designation 'CHILD syndrome': congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Opitz (1982) urged use of the term 'deficiency' rather than 'absence deformity.' Happle et al. (1980) reviewed 18 cases that were earlier reported under various designations and added 2 more. They suggested that the syndrome may be inherited as an X-linked dominant trait with lethality in hemizygous males (Wettke-Schafer and Kantner, 1983). The basis for the suggestion was: sex ratio of 19 females to 1 male, an 11:3 ratio of unaffected sisters to unaffected brothers, and the observation of 5 miscarriages and 1 male stillbirth in the affected sibships. Although the linear distribution of skin lesions is consistent with lyonization, the unilateral involvement necessitates an auxiliary hypothesis. Hebert et al. (1987) reported a case, bringing the total number of cases to 29 (28 female; 1 male). Their patient had associated Shone syndrome ('parachute mitral valve,' supravalvular ring of the left atrium, subaortic stenosis, coarctation of the aorta) and meningomyelocele. Because of phenotypic overlap with chondrodysplasia punctata (215100), in which a peroxisomal defect has been identified, Emami et al. (1992) did studies of peroxisome morphology and function in fibroblasts from involved versus uninvolved skin in a patient with CHILD syndrome. They found that fibroblasts from involved skin accumulated cytoplasmic lipid, visualized with the fluorescent probe nile-red. Ultrastructurally, fibroblasts of involved skin accumulated lamellated membrane and vacuolar structures. By diaminobenzidine ultracytochemistry, fewer peroxisomes were present. Moreover, the activities of 2 peroxisomal enzymes, catalase and dihydroxyacetone phosphate acyltransferase were both about 30% of normal. However, peroxisomal oxidation of very long chain and branched-chain fatty acids was preserved. Moreover, the plasma content of very long chain fatty acids and phytanic acid, as well as red cell content of plasmalogen, was normal. </p><p>As an exception to the rule that the CHILD syndrome is observed only in females, Happle et al. (1996) described the case of a 2-year-old boy of Egyptian origin born of healthy unrelated parents. At birth, a severely deformed right leg and an inflammatory ichthyosiform skin lesion involving the right side of the body were noted. Cytogenetic analysis of peripheral blood lymphocytes showed a normal male karyotype 46,XY. Despite dermabrasion of parts of the lesion involving the trunk under general anesthesia, the CHILD nevus had completely recurred in the treated area 8 months later. Some functional improvement was achieved by orthopedic surgical correction of the dislocated right knee joint and right foot. Exceptionally, males are known to be affected by other X-linked dominant, male-lethal traits such as incontinentia pigmenti (308300), focal dermal hypoplasia (305600), and oral-facial-digital syndrome I (311200). Some of these cases have the Klinefelter syndrome with a 47,XXY karyotype, but the remaining patients have a normal karyotype 46,XY. Happle et al. (1996) stated that such cases can be best explained either by a postzygotic mutation or by a gametic half-chromatid mutation (Lenz, 1975). In view of the pattern of lateralization of the lesions, Happle et al. (1996) concluded that a postzygotic mutation appears more likely than a gametic half-chromatid mutation, which would be expected to give rise to a more finely distributed, bilateral pattern. The authors noted that, according to this concept, XY men with CHILD syndrome can transmit the trait to their daughters, provided the underlying postzygotic mutation has occurred rather early and involves the gonads. </p><p>Martinez et al. (2022) reported a 37-year-old female patient with CHILD syndrome. She presented at birth with ichthyosiform erythroderma lesions in the abdomen and the proximal third of the right leg following the midline. She also had longitudinal discrepancy of the right leg. When first evaluated at 33 years of age, she had 3.8 cm shortening of her right arm and 4.3 cm shortening of her right fifth finger. Right leg hypoplasia was noted, with a 23 cm shortening. She had a right ichthyosiform nevus in the hypoplastic leg, low hemiabdomen, and lumbar region. Flexion at the right hip and knee were limited to 95 degrees, but joint extension was complete. Her trochanteric prominence angle was 15 degrees, and she had anterior cruciate insufficiency, right genu valgum, and a right flexible flat valgus foot. She also had dorsolumbar scoliosis with left convexity and a vertebral hemangioma in L2. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Because of the clinical similarities between X-linked dominant Conradi-Hunermann syndrome (CDPX2; 302960) and CHILD syndrome, Grange et al. (2000) analyzed plasma sterols in a patient with typical CHILD syndrome. The levels of 8-dehydrocholesterol and 8(9)-cholestenol were increased in this patient to the same degree as in CDPX2 patients. The authors subsequently identified a nonsense mutation in exon 3 of the patient's 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase gene (300205.0006). The authors suggested that at least some cases of CHILD syndrome are caused by 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase deficiency and are allelic to CDPX2, although the almost exclusively unilateral distribution of abnormalities in CHILD syndrome versus the bilateral disease of CDPX2 remains to be explained. </p><p>Herman (2003) reviewed the cholesterol biosynthetic pathway and the 6 disorders involving enzyme defects in post-squalene cholesterol biosynthesis: Smith-Lemli-Opitz syndrome (SLOS; 270400), desmosterolosis (602398), CDPX2, CHILD syndrome, lathosterolosis (607330), and hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM; 215140). </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Konig et al. (2000) analyzed 6 patients with CHILD syndrome for mutations in the NSDHL gene at Xq28 and in the EBP gene, which functions downstream of NSDHL in a later step of cholesterol biosynthesis. Four of the cases were sporadic, including one in a previously reported 46,XY male (Happle et al., 1996), and 2 cases were familial, in a mother and her daughter. No mutations were identified in the EBP gene; however, mutations were identified in the NSDHL gene in all of the patients. The NSDHL mutations included 2 missense mutations (300275.0001-300275.0002) and 2 nonsense mutations (300275.0003-300275.0004). One of these mutations was found in both the mother and daughter and in another patient, although based on their family history and ethnic background, they were highly unlikely to be related. The authors concluded that CHILD syndrome can be added to the list of developmental defects associated with mutations affecting cholesterol synthesis. </p><p>Konig et al. (2002) identified a novel missense mutation in NSDHL (300275.0005), that potentially may impair protein function, in a patient with an almost symmetric CHILD nevus. They concluded that a diagnosis of CHILD syndrome can be based on clinical features such as the highly characteristic morphology of the CHILD nevus. A symmetric distribution of this nevus can exceptionally be seen in patients with CHILD syndrome, and this bilateral involvement should not mislead the clinician to any other diagnosis. They proposed that the effect of random X inactivation is responsible for different patterns of cutaneous involvement in female carriers of NSDHL mutations. Konig et al. (2002) asserted that CHILD syndrome is not caused by mutations in EBP, the gene involved in X-linked dominant chondrodysplasia punctata (CDPX2). They pointed out that an X-linked dominant disorder usually showing an asymmetric involvement, such as CDPX2, may give rise by way of exception to extreme lateralization, whereas the CHILD syndrome usually shows extreme lateralization but may exceptionally manifest itself in almost symmetrically arranged skin lesions. </p><p>Hummel et al. (2003) reported a novel mutation in the NSDHL gene (E151X; 300275.0006) in a female infant with left-sided CHILD syndrome, demonstrating that both right- and left-sided CHILD syndrome can be caused by mutations in the same gene. </p><p>In a 37-year-old female with CHILD syndrome including torsional and angular deformities of the limbs, Martinez et al. (2022) reported a novel 3-basepair deletion in the NSDHL gene (c.896_898del), resulting in deletion of the amino acid valine at position 299 (val299del). </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Cullen et al. (1969); Lewis and Messner (1970); Shear et al. (1971)
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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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Cullen, S. I., Harris, D. E., Carter, C. H., Reed, W. B.
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<strong>Congenital unilateral ichthyosiform erythroderma.</strong>
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Arch. Derm. 99: 724-729, 1969.
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[PubMed: 5783085]
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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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Emami, S., Rizzo, W. B., Hanley, K. P., Taylor, J. M., Goldyne, M. E., Williams, M. L.
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<strong>Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome: case study and review of peroxisomal disorders in relation to skin disease.</strong>
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Arch. Derm. 128: 1213-1222, 1992.
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[PubMed: 1519936]
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</p>
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<li>
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<p class="mim-text-font">
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Falek, A., Heath, C. W., Jr., Ebbin, A. J., McLean, W. R.
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<strong>Unilateral limb and skin deformities with congenital heart disease in two siblings: a lethal syndrome.</strong>
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J. Pediat. 73: 910-913, 1968.
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[PubMed: 5696317]
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[Full Text: https://doi.org/10.1016/s0022-3476(68)80247-1]
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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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Grange, D. K., Kratz, L. E., Braverman, N. E., Kelley, R. I.
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<strong>CHILD syndrome caused by deficiency of 3-beta-hydroxysteroid-delta-8, delta-7-isomerase.</strong>
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Am. J. Med. Genet. 90: 328-335, 2000.
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[PubMed: 10710233]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(20000214)90:4<328::aid-ajmg13>3.0.co;2-f]
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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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Happle, R., Effendy, I., Megahed, M., Orlow, S. J., Kuster, W.
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<strong>CHILD syndrome in a boy.</strong>
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Am. J. Med. Genet. 62: 192-194, 1996.
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[PubMed: 8882402]
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[Full Text: https://doi.org/10.1002/(SICI)1096-8628(19960315)62:2<192::AID-AJMG14>3.0.CO;2-J]
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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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Happle, R., Koch, H., Lenz, W.
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<strong>The CHILD syndrome: congenital hemidysplasia with ichthyosiform erythroderma and limb defects.</strong>
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Europ. J. Pediat. 134: 27-33, 1980.
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[PubMed: 7408908]
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[Full Text: https://doi.org/10.1007/BF00442399]
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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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Hebert, A. A., Esterly, N. B., Holbrook, K. A., Hall, J. C.
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<strong>The CHILD syndrome: histologic and ultrastructural studies.</strong>
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Arch. Derm. 123: 503-509, 1987.
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[PubMed: 3827283]
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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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Herman, G. E.
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<strong>Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes.</strong>
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Hum. Molec. Genet. 12(R1): R75-R88, 2003.
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[PubMed: 12668600]
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[Full Text: https://doi.org/10.1093/hmg/ddg072]
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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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Hummel, M., Cunningham, D., Mullett, C. J., Kelley, R. I., Herman, G. E.
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<strong>Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene.</strong>
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Am. J. Med. Genet. 122A: 246-251, 2003.
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[PubMed: 12966526]
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[Full Text: https://doi.org/10.1002/ajmg.a.20248]
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<li>
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<p class="mim-text-font">
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Konig, A., Happle, R., Fink-Puches, R., Soyer, H. P., Bornholdt, D., Engel, H., Grzeschik, K.-H.
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<strong>Personal Communication.</strong>
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