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Entry
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- #307000 - HYDROCEPHALUS, CONGENITAL, X-LINKED; HYCX
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- OMIM
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<p>
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<span class="h4">#307000</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/307000"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS236600"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=HYDROCEPHALUS, CONGENITAL, X-LINKED" 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="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=164&Typ=Pat" title="Hydrocephalus with stenosis of the aqueduct of Sylvius" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Hydrocephalus with stenosi… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=20318&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">L1 syndrome </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1484/" 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/9488" 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/l1-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=307000[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2182" title="Hydrocephalus with stenosis of the aqueduct of Sylvius" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Hydrocephalus with stenosi…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=275543" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">L1 syndrome</a></div>
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</div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/d16656e2-25d0-4b3b-bf19-cc971fdb1148/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</a>
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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:10908" 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/307000" 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/OMIA000487/" 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:10908" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 71779008<br />
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<strong>ORPHA:</strong> 2182, 275543<br />
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<strong>DO:</strong> 10908<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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307000
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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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HYDROCEPHALUS, CONGENITAL, X-LINKED; HYCX
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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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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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<div>
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<h4>
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<span class="mim-font">
|
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HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS<br />
|
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HSAS1<br />
|
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HYDROCEPHALUS, X-LINKED<br />
|
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AQUEDUCTAL STENOSIS, X-LINKED; XLAS
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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|
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<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/842?start=-3&limit=10&highlight=842">
|
|
Xq28
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Hydrocephalus, congenital, X-linked
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/307000"> 307000 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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">
|
|
L1CAM
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/308840"> 308840 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/307000" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS236600" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/307000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/307000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Macrocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12138000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12138000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1145403003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1145403003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221355</a>, <a href="https://bioportal.bioontology.org/search?q=C2243051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2243051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001355</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Macrocephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Flexion deformities of thumbs (adducted thumbs) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844008&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844008</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/239736003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">239736003</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009600" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009600</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hydrocephalus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230745008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230745008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020255&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020255</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span><br /> -
|
|
Aqueduct of Sylvius stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50429003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50429003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q03.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q03.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266476&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266476</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002410" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002410</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002410" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002410</a>]</span><br /> -
|
|
Agenesis of the corpus callosum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5102002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5102002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q04.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q04.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0175754&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0175754</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001274</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001274</a>]</span><br /> -
|
|
Agenesis of the septum pellucidum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253143001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253143001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431371&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431371</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001331" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001331</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001331" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001331</a>]</span><br /> -
|
|
Corticospinal tract hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844007&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844007</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007016" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007016</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007016" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007016</a>]</span><br /> -
|
|
Mental retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
|
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Spasticity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/221360009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">221360009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397790002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397790002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026838</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</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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<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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- Overlapping clinical spectrum and allelic to MASA syndrome (<a href="/entry/303350">303350</a>)<br /> -
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Most common form of inherited, congenital hydrocephalus<br /> -
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Incidence 1 in 30,000 male births<br /> -
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Neonatal or infant death<br /> -
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Survivors have mental retardation, spasticity, and adducted thumbs (MASA syndrome findings (<a href="/entry/303350">303350</a>))<br /> -
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CRASH is an acronym for Corpus callosum hypoplasia, Retardation, Adducted thumbs, Spastic paraplegia, and Hydrocephalus which encompasses all L1CAM diseases<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 mutation in the L1 cell adhesion molecule gene (L1CAM, <a href="/entry/308840#0001">308840.0001</a>)<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 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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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
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Hydrocephalus, congenital
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- <a href="/phenotypicSeries/PS236600">PS236600</a>
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- 6 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />mapping key</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Gene/Locus<br />MIM number</strong>
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/3/147?start=-3&limit=10&highlight=147"> 3p22.3 </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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<a href="/entry/618667"> Hydrocephalus, congenital, 4 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/618667"> 618667 </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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<a href="/entry/618570"> TRIM71 </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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<a href="/entry/618570"> 618570 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/3/269?start=-3&limit=10&highlight=269"> 3p21.31 </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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<a href="/entry/620241"> {Hydrocephalus, congenital, 5, susceptibility to} </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/620241"> 620241 </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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<a href="/entry/601732"> SMARCC1 </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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<a href="/entry/601732"> 601732 </a>
|
|
</span>
|
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</td>
|
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</tr>
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|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
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<a href="/geneMap/9/50?start=-3&limit=10&highlight=50"> 9p23 </a>
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615219"> Hydrocephalus, congenital, 2, with or without brain or eye anomalies </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
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</td>
|
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<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">
|
|
<a href="/entry/615219"> 615219 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603785"> MPDZ </a>
|
|
</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603785"> 603785 </a>
|
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</span>
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</td>
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</tr>
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|
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<tr>
|
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<td>
|
|
<span class="mim-font">
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|
|
<a href="/geneMap/14/460?start=-3&limit=10&highlight=460"> 14q32.11-q32.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/236600"> Hydrocephalus, congenital, 1 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/236600"> 236600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611204"> CCDC88C </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611204"> 611204 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
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|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<a href="/geneMap/17/34?start=-3&limit=10&highlight=34"> 17p13.3 </a>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617967"> Hydrocephalus, congenital, 3, with brain anomalies </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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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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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617967"> 617967 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614218"> WDR81 </a>
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614218"> 614218 </a>
|
|
</span>
|
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</td>
|
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</tr>
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|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<a href="/geneMap/X/842?start=-3&limit=10&highlight=842"> Xq28 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/307000"> Hydrocephalus, congenital, X-linked </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
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|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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<a href="/entry/307000"> 307000 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/308840"> L1CAM </a>
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/308840"> 308840 </a>
|
|
</span>
|
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</td>
|
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</tr>
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</tbody>
|
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</table>
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</div>
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<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
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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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<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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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because X-linked congenital hydrocephalus (HYCX) is caused by mutation in the gene encoding the L1 cell adhesion molecule (L1CAM; <a href="/entry/308840">308840</a>).</p><p>MASA syndrome (<a href="/entry/303350">303350</a>) is an allelic disorder.</p>
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</span>
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<div>
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>The X-linked recessive form of congenital hydrocephalus (HYCX) is the most common of the inherited forms of hydrocephalus. The phenotype consists of enlarged cerebral ventricles and mental retardation, and often includes spastic paraparesis and adducted thumbs. The most severe cases die pre- or perinatally with gross hydrocephalus and enlarged head circumference. Stenosis of the aqueduct of Sylvius is frequently associated with the disorder (<a href="#26" class="mim-tip-reference" title="Rosenthal, A., Jouet, M., Kenwrick, S. <strong>Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus.</strong> Nature Genet. 2: 107-112, 1992. Note: Erratum: Nature Genet. 3: 273 only, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303258</a>] [<a href="https://doi.org/10.1038/ng1092-107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1303258">Rosenthal et al., 1992</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1303258" 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>See HYC1 (<a href="/entry/236600">236600</a>) for a discussion of nonsyndromic autosomal recessive forms of hydrocephalus.</p>
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<p>The hydrocephalus may become arrested and the principal manifestations may be mental deficiency and spastic paraplegia. Hypoplasia and contracture of the thumb are characteristic (<a href="#6" class="mim-tip-reference" title="Edwards, J. H. <strong>The syndrome of sex-linked hydrocephalus.</strong> Arch. Dis. Child. 36: 486-493, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13889295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13889295</a>] [<a href="https://doi.org/10.1136/adc.36.189.486" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13889295">Edwards, 1961</a>) but were not present in any of the 7 affected males in the family studied by <a href="#1" class="mim-tip-reference" title="Bickers, D. S., Adams, R. D. <strong>Hereditary stenosis of the aqueduct of Sylvius as a cause of congenital hydrocephalus.</strong> Brain 72: 246-262, 1949.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18136715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18136715</a>] [<a href="https://doi.org/10.1093/brain/72.2.246" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18136715">Bickers and Adams (1949)</a> and later by <a href="#14" class="mim-tip-reference" title="Holmes, L. B., Nash, A. <strong>X-linked hydrocephalus, comparison of pathology in two generations. (Abstract)</strong> American Society of Human Genetics Meeting, Toronto 1967."None>Holmes and Nash (1967)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13889295+18136715" 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 Norwegian family reported by <a href="#34" class="mim-tip-reference" title="Sovik, O., Van der Hagen, C. B., Loken, A. C. <strong>X-linked aqueductal stenosis.</strong> Clin. Genet. 11: 416-420, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/301802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">301802</a>]" pmid="301802">Sovik et al. (1977)</a>, all but 1 of 8 affected children died at or within 10 days of birth. Thumb contracture was not noted. <a href="#15" class="mim-tip-reference" title="Howard, F. M., Till, K., Carter, C. O. <strong>A family study of hydrocephalus resulting from aqueduct stenosis.</strong> J. Med. Genet. 18: 252-255, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7277416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7277416</a>] [<a href="https://doi.org/10.1136/jmg.18.4.252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7277416">Howard et al. (1981)</a> stated that about a third of cases of congenital hydrocephalus are the result of aqueductal stenosis, but not all of these are the X-linked form. At least 32 families with the X-linked form had been reported by 1981. Flexed adducted thumbs have been noted in some affected members of about half the families. <a href="#4" class="mim-tip-reference" title="Clewell, W. H., Johnson, M. L., Meier, P. R., Newkirk, J. B., Zide, S. L., Hendee, R. W., Bowes, W. A., Hecht, F., O'Keeffe, D., Henry, G. P., Shikes, R. H. <strong>A surgical approach to the treatment of fetal hydrocephalus.</strong> New Eng. J. Med. 306: 1320-1325, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7070456/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7070456</a>] [<a href="https://doi.org/10.1056/NEJM198206033062202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7070456">Clewell et al. (1982)</a> reported 2 male sibs with X-linked aqueductal stenosis. Adducted thumbs were not observed, but 1 of the infants showed bilateral flexion contractions of the wrists and metacarpophalangeal joints--a finding noted since the first ultrasound evaluation at gestational age 16 weeks. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7277416+7070456+301802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a study of noncommunicating hydrocephalus in Victoria, Australia, during a 20-year period (<a href="#11" class="mim-tip-reference" title="Halliday, J., Chow, C. W., Wallace, D., Danks, D. M. <strong>X-linked hydrocephalus: a survey of a 20 year period in Victoria, Australia.</strong> J. Med. Genet. 23: 23-31, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3950933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3950933</a>] [<a href="https://doi.org/10.1136/jmg.23.1.23" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3950933">Halliday et al., 1986</a>), 12 definite and 13 probable cases were found. Absence of the pyramids was found in all 9 cases in whom necropsy sections of the medulla were available. Most of the patients showed pyramidal tract signs; mental retardation was usual in survivors. Adduction of the thumb occurred in 44% of cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3950933" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The family reported by <a href="#18" class="mim-tip-reference" title="Kelley, R. I., Mennuti, M. T., Hickey, W. F., Zackai, E. H. <strong>X-linked recessive aqueductal stenosis without macrocephaly.</strong> Clin. Genet. 33: 390-394, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3378368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3378368</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1988.tb03467.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3378368">Kelley et al. (1988)</a> reemphasized the points that XLAS may be accompanied by a head of normal size despite severe retardation and that major CNS malformations may occur in addition to the aqueductal stenosis. The findings in the 5-generation pedigree studied by <a href="#32" class="mim-tip-reference" title="Serville, F., Lyonnet, S., Pelet, A., Reynaud, M., Louail, C., Munnich, A., Le Merrer, M. <strong>X-linked hydrocephalus: clinical heterogeneity at a single gene locus.</strong> Europ. J. Pediat. 151: 515-518, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1396913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1396913</a>] [<a href="https://doi.org/10.1007/BF01957757" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1396913">Serville et al. (1992)</a> emphasized the phenotypic variability. Ventricular dilatation in affected males was either severe and diagnosed antenatally or moderate and consistent with long survival with little or no macrocephaly. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3378368+1396913" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#30" class="mim-tip-reference" title="Schrander-Stumpel, C., Howeler, C., Jones, M., Sommer, A., Stevens, C., Tinschert, S., Israel, J., Fryns, J. P. <strong>Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): clinical review with six additional families.</strong> Am. J. Med. Genet. 57: 107-116, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7645588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7645588</a>] [<a href="https://doi.org/10.1002/ajmg.1320570122" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7645588">Schrander-Stumpel et al. (1995)</a> reported 5 families with definite hydrocephalus accompanied by various features, including macrocephaly, mental retardation, spastic paraplegia, adducted thumbs, and agenesis of the corpus callosum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7645588" 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>Some patients with X-linked hydrocephalus have been reported with Hirschsprung disease (see, e.g., <a href="#22" class="mim-tip-reference" title="Okamoto, N., Wada, Y., Goto, M. <strong>Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM.</strong> J. Med. Genet. 34: 670-671, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9279760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9279760</a>] [<a href="https://doi.org/10.1136/jmg.34.8.670" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9279760">Okamoto et al., 1997</a>; <a href="#23" class="mim-tip-reference" title="Parisi, M. A., Kapur, R. P., Neilson, I., Hofstra, R. M. W., Holloway, L. W., Michaelis, R. C., Leppig, K. A. <strong>Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?</strong> Am. J. Med. Genet. 108: 51-56, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11857550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11857550</a>] [<a href="https://doi.org/10.1002/ajmg.10185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11857550">Parisi et al., 2002</a>; <a href="#21" class="mim-tip-reference" title="Okamoto, N., Del Maestro, R., Valero, R., Monros, E., Poo, P., Kanemura, Y., Yamasaki, M. <strong>Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM.</strong> J. Hum. Genet. 49: 334-337, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15148591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15148591</a>] [<a href="https://doi.org/10.1007/s10038-004-0153-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15148591">Okamoto et al., 2004</a>) or congenital idiopathic intestinal pseudoobstruction (<a href="#2" class="mim-tip-reference" title="Bott, L., Boute, O., Mention, K., Vinchon, M., Boman, F., Gottrand, F. <strong>Congenital idiopathic intestinal pseudo-obstruction and hydrocephalus with stenosis of the aqueduct of Sylvius.</strong> Am. J. Med. Genet. 130A: 84-87, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15368500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15368500</a>] [<a href="https://doi.org/10.1002/ajmg.a.30793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15368500">Bott et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15148591+9279760+15368500+11857550" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Rehnberg, M., Jonasson, J., Gunnarsson, C. <strong>Novel L1CAM splice site mutation in a young male with L1 syndrome. (Letter)</strong> Am. J. Med. Genet. 155A: 439-441, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21271669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21271669</a>] [<a href="https://doi.org/10.1002/ajmg.a.33803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21271669">Rehnberg et al. (2011)</a> reported a Swedish infant in whom hydrocephalus was detected by fetal ultrasound at 36 weeks' gestation. Soon after birth, he was noted to have global hypotonia and bilateral adducted thumbs. He showed developmental delay and cognitive impairment in early childhood. Family history was notable for 2 deceased maternal uncles with hydrocephalus, cognitive impairment, spastic paraplegia, and adducted thumbs. Genetic analysis identified a splice site mutation in the L1CAM gene (<a href="/entry/308840#0018">308840.0018</a>) in the proband, his unaffected mother, maternal grandmother, and sister. The proband was hemizygous for the mutation, and his female relatives were heterozygous for the mutation. <a href="#24" class="mim-tip-reference" title="Rehnberg, M., Jonasson, J., Gunnarsson, C. <strong>Novel L1CAM splice site mutation in a young male with L1 syndrome. (Letter)</strong> Am. J. Med. Genet. 155A: 439-441, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21271669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21271669</a>] [<a href="https://doi.org/10.1002/ajmg.a.33803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21271669">Rehnberg et al. (2011)</a> noted that the mother developed metastatic clear cell renal cell carcinoma (RCC; <a href="/entry/144700">144700</a>) at age 46, and they speculated that the L1CAM mutation may have stimulated tumor migration and growth in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21271669" 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="#28" class="mim-tip-reference" title="Sajid, M. H., Copple, P. J. <strong>Familial aqueductal stenosis and basilar impression.</strong> Neurology 18: 260-262, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5300716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5300716</a>] [<a href="https://doi.org/10.1212/wnl.18.3.260" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5300716">Sajid and Copple (1968)</a> found basilar impression (<a href="/entry/109500">109500</a>) as an associated feature in 2 brothers and suggested its usefulness in diagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5300716" 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>Diagnosis of hydrocephalus is determined by brain imaging, and may be suspected if macrocephaly is present. In a Dutch family described by <a href="#37" class="mim-tip-reference" title="Willems, P. J., Brouwer, O. F., Dijkstra, I., Wilmink, J. <strong>X-linked hydrocephalus.</strong> Am. J. Med. Genet. 27: 921-928, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3425602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3425602</a>] [<a href="https://doi.org/10.1002/ajmg.1320270419" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3425602">Willems et al. (1987)</a>, progressive increase in head circumference led to the diagnosis in 3 patients; however, in 5 with normal head size, the initial diagnosis had been 'nonspecific' mental retardation. Moderate to severe hydrocephaly was present in all macrocephalic patients and in 3 of the 5 with normal occipital frontal circumference. CT scan of the brain did not show aqueductal stenosis in any of these patients. The characteristic clasped thumb was illustrated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3425602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
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<p><a href="#4" class="mim-tip-reference" title="Clewell, W. H., Johnson, M. L., Meier, P. R., Newkirk, J. B., Zide, S. L., Hendee, R. W., Bowes, W. A., Hecht, F., O'Keeffe, D., Henry, G. P., Shikes, R. H. <strong>A surgical approach to the treatment of fetal hydrocephalus.</strong> New Eng. J. Med. 306: 1320-1325, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7070456/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7070456</a>] [<a href="https://doi.org/10.1056/NEJM198206033062202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7070456">Clewell et al. (1982)</a> implanted a ventriculoamniotic shunt in a 24-week fetus with probable X-linked aqueductal stenosis. Fetal head size increased normally until after the 32nd week, when the shunt failed. After cesarean delivery at 34 weeks, a standard ventriculoperitoneal shunt was placed. <a href="#41" class="mim-tip-reference" title="Williamson, R. A., Schauberger, C. W., Varner, M. W., Aschenbrener, C. A. <strong>Heterogeneity of prenatal onset hydrocephalus: management and counseling implications.</strong> Am. J. Med. Genet. 17: 497-508, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6702900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6702900</a>] [<a href="https://doi.org/10.1002/ajmg.1320170212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6702900">Williamson et al. (1984)</a> discussed heterogeneity in congenital hydrocephalus and the indications for fetal surgery. They suggested that X-linked aqueductal stenosis might be most appropriate for such treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6702900+7070456" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a Chicago study, <a href="#3" class="mim-tip-reference" title="Burton, B. K. <strong>Recurrence risk for congenital hydrocephalus.</strong> Clin. Genet. 16: 47-53, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/573187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">573187</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1979.tb00848.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="573187">Burton (1979)</a> estimated that 'up to 25% of aqueductal obstruction in males may be the result of an X-linked recessive disorder.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=573187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Rosenthal, A., Jouet, M., Kenwrick, S. <strong>Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus.</strong> Nature Genet. 2: 107-112, 1992. Note: Erratum: Nature Genet. 3: 273 only, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303258</a>] [<a href="https://doi.org/10.1038/ng1092-107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1303258">Rosenthal et al. (1992)</a> noted that HYCX occurs in approximately 1/30,000 male births. In a study of internal hydrocephalus and aqueductal stenosis, <a href="#12" class="mim-tip-reference" title="Haverkamp, F., Wolfle, J., Aretz, M., Kramer, A., Hohmann, B., Fahnenstich, H., Zerres, K. <strong>Congenital hydrocephalus internus and aqueduct stenosis: aetiology and implications for genetic counselling.</strong> Europ. J. Pediat. 158: 474-478, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10378395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10378395</a>] [<a href="https://doi.org/10.1007/s004310051123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10378395">Haverkamp et al. (1999)</a> found that 13 patients (37.1%) had a genetic etiology and that 2 of 35 cases had X-linked hydrocephalus as the basis of the anomaly. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10378395+1303258" 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="#19" class="mim-tip-reference" title="Landrieu, P., Ninane, J., Ferriere, G., Lyon, G. <strong>Aqueductal stenosis in X-linked hydrocephalus: a secondary phenomenon?</strong> Dev. Med. Child Neurol. 21: 637-642, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/574474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">574474</a>] [<a href="https://doi.org/10.1111/j.1469-8749.1979.tb01678.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="574474">Landrieu et al. (1979)</a> failed to find stenosis of the aqueduct in 1 affected male in a family with many cases, although some changes compatible with compression of the brainstem were present. This experience led them to suggest that aqueductal stenosis is a secondary phenomenon and that the hydrocephalus begins as the communicating form. Communicating hydrocephalus followed by aqueductal stenosis is known also in mutant mice and in virus-induced experimental hydrocephalus. <a href="#36" class="mim-tip-reference" title="Varadi, V., Csecsei, K., Szeifert, G. T., Toth, Z., Papp, Z. <strong>Prenatal diagnosis of X linked hydrocephalus without aqueductal stenosis.</strong> J. Med. Genet. 24: 207-209, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3295245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3295245</a>] [<a href="https://doi.org/10.1136/jmg.24.4.207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3295245">Varadi et al. (1987)</a> also reported a case of X-linked hydrocephalus without aqueductal stenosis and reviewed other observations suggesting that aqueductal stenosis is a secondary phenomenon in X-linked hydrocephalus. <a href="#37" class="mim-tip-reference" title="Willems, P. J., Brouwer, O. F., Dijkstra, I., Wilmink, J. <strong>X-linked hydrocephalus.</strong> Am. J. Med. Genet. 27: 921-928, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3425602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3425602</a>] [<a href="https://doi.org/10.1002/ajmg.1320270419" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3425602">Willems et al. (1987)</a> raised the possibility that aqueductal stenosis, when present, is not the cause but the result of hydrocephaly. If true, the commonly used designation X-linked aqueductal stenosis may be a misnomer. <a href="#19" class="mim-tip-reference" title="Landrieu, P., Ninane, J., Ferriere, G., Lyon, G. <strong>Aqueductal stenosis in X-linked hydrocephalus: a secondary phenomenon?</strong> Dev. Med. Child Neurol. 21: 637-642, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/574474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">574474</a>] [<a href="https://doi.org/10.1111/j.1469-8749.1979.tb01678.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="574474">Landrieu et al. (1979)</a> concluded that the adducted thumb, present in about a fourth of cases, is not secondary to a neurologic defect but is a developmental defect, i.e., a localized atrophy or agenesis of the abductor and extensor muscles of the thumbs. The conclusion was based on electrophysiologic findings and direct observation during surgery. The 'clasped thumb' may be difficult to distinguish from a spastic flexion of the thumb in the bipyramidal syndrome commonly associated with severe hydrocephalus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=574474+3295245+3425602" 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="#38" class="mim-tip-reference" title="Willems, P. J., Dijkstra, I., Van der Auwera, B. J., Vits, L., Coucke, P. J., Raeymaekers, P., Van Broeckhoven, C., Dumon, J. E. <strong>Assignment of X-linked hydrocephalus to Xq28. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A167 only, 1989."None>Willems et al. (1989)</a> found that X-linked hydrocephalus is linked to F8C (<a href="/entry/300841">300841</a>) and to DNA marker DXS52 at Xq28; the maximum lod score was 2.52 and 3.23, respectively, at theta = 0.00. In their full report, <a href="#39" class="mim-tip-reference" title="Willems, P. J., Dijkstra, I., Van der Auwera, B. J., Vits, L., Coucke, P., Raeymaekers, P., Van Broeckhoven, C., Consalez, G. G., Freeman, S. B., Warren, S. T., Brouwer, O. F., Brunner, H. G., Renier, W. O., Van Elsen, A. F., Dumon, J. E. <strong>Assignment of X-linked hydrocephalus to Xq28 by linkage analysis.</strong> Genomics 8: 367-370, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1979056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1979056</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90294-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1979056">Willems et al. (1990)</a> gave the following data: DXS52, maximum lod = 6.52 at theta = 0.03; F8C, maximum lod = 4.32 at theta = 0.00; and DXS15, maximum lod = 3.40 at theta = 0.00. <a href="#32" class="mim-tip-reference" title="Serville, F., Lyonnet, S., Pelet, A., Reynaud, M., Louail, C., Munnich, A., Le Merrer, M. <strong>X-linked hydrocephalus: clinical heterogeneity at a single gene locus.</strong> Europ. J. Pediat. 151: 515-518, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1396913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1396913</a>] [<a href="https://doi.org/10.1007/BF01957757" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1396913">Serville et al. (1992)</a> confirmed the localization of the HSAS1 gene to Xq28 in a 5-generation pedigree; maximum lod = 4.57 at theta = 0.04 for linkage to DXS52. <a href="#40" class="mim-tip-reference" title="Willems, P. J., Vits, L., Raeymaekers, P., Beuten, J., Coucke, P., Holden, J. J. A., Van Broeckhoven, C., Warren, S. T., Sagi, M., Robinson, D., Dennis, N., Friedman, K. J., Magnay, D., Lyonnet, S., White, B. N., Wittwer, B. H., Aylsworth, A. S., Reicke, S. <strong>Further localization of X-linked hydrocephalus in the chromosomal region Xq28.</strong> Am. J. Hum. Genet. 51: 307-315, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1642232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1642232</a>]" pmid="1642232">Willems et al. (1992)</a>, who suggested that this form of hydrocephalus is the most frequent genetic type, used a panel of 18 Xq27-q28 marker loci to narrow down the localization of the HSAS gene in 13 families of different ethnic origin. Multipoint linkage analysis localized the gene to the telomeric part of Xq28, with a maximum lod score of 20.91 at 0.5 cM distal to DXS52. One crossover between HSAS and F8C suggested that the HSAS gene is proximal to F8C. Therefore, HSAS is probably located in an approximately 2-Mb region between DXS52 and F8C. Similar conclusions were arrived at by <a href="#20" class="mim-tip-reference" title="Lyonnet, S., Pelet, A., Royer, G., Delrieu, O., Serville, F., Le Marec, B., Gruensteudel, A., Pfeiffer, R. A., Briard, M.-L., Dubay, C., Hors-Cayla, M.-C., Le Merrer, M., Munnich, A. <strong>The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52.</strong> Genomics 14: 508-510, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1427869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1427869</a>] [<a href="https://doi.org/10.1016/s0888-7543(05)80254-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1427869">Lyonnet et al. (1992)</a> in 5 presumably independent families and by <a href="#17" class="mim-tip-reference" title="Jouet, M., Feldman, E., Yates, J., Donnai, D., Paterson, J., Siggers, D., Kenwrick, S. <strong>Refining the genetic location of the gene for X linked hydrocephalus within Xq28.</strong> J. Med. Genet. 30: 214-217, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8474107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8474107</a>] [<a href="https://doi.org/10.1136/jmg.30.3.214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8474107">Jouet et al. (1993)</a> in 4 others. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1979056+1427869+1396913+1642232+8474107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Heterogeneity</em></strong></p><p>
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There may be a separate form of X-linked hydrocephalus; <a href="#35" class="mim-tip-reference" title="Strain, L., Gosden, C. M., Brock, D. J. H., Bonthron, D. T. <strong>Genetic heterogeneity in X-linked hydrocephalus: linkage to markers within Xq27.3.</strong> Am. J. Hum. Genet. 54: 236-243, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8304340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8304340</a>]" pmid="8304340">Strain et al. (1994)</a> investigated a family with typical X-linked aqueductal stenosis in which linkage to markers in the region of the L1CAM gene was excluded and close linkage established to a more proximal site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8304340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The nature of the gene defect in X-linked hydrocephalus was established by the candidate gene approach. <a href="#31" class="mim-tip-reference" title="Schrander-Stumpel, C., Legius, E., Fryns, J. P., Cassiman, J. J. <strong>MASA syndrome: new clinical features and linkage analysis using DNA probes.</strong> J. Med. Genet. 27: 688-692, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2277384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2277384</a>] [<a href="https://doi.org/10.1136/jmg.27.11.688" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2277384">Schrander-Stumpel et al. (1990)</a> noted that similar linkage of HYCX and the MASA syndrome (<a href="/entry/303350">303350</a>) to Xq28 and overlapping features of the two disorders suggested that they may be allelic. Based on these and other observations, <a href="#26" class="mim-tip-reference" title="Rosenthal, A., Jouet, M., Kenwrick, S. <strong>Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus.</strong> Nature Genet. 2: 107-112, 1992. Note: Erratum: Nature Genet. 3: 273 only, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303258</a>] [<a href="https://doi.org/10.1038/ng1092-107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1303258">Rosenthal et al. (1992)</a> examined the L1CAM gene in an HSAS family and identified a point mutation (<a href="/entry/308840#0001">308840.0001</a>) that segregated with the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1303258+2277384" 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="Fryns, J. P., Spaepen, A., Cassiman, J. J., Van den Berghe, H. <strong>X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28. (Letter)</strong> J. Med. Genet. 28: 429-431, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1870106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1870106</a>] [<a href="https://doi.org/10.1136/jmg.28.6.429-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1870106">Fryns et al. (1991)</a> reported the findings in a 3-generation family which further suggested that X-linked complicated spastic paraplegia, MASA syndrome, and X-linked hydrocephalus due to congenital stenosis of the aqueduct of Sylvius are variable clinical manifestations of mutations at the same locus at Xq28. <a href="#27" class="mim-tip-reference" title="Ruiz, J. C., Cuppens, H., Legius, E., Fryns, J.-P., Glover, T., Marynen, P., Cassiman, J.-J. <strong>Mutations in the L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.</strong> J. Med. Genet. 32: 549-552, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7562969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7562969</a>] [<a href="https://doi.org/10.1136/jmg.32.7.549" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7562969">Ruiz et al. (1995)</a> found a novel mutation of the L1CAM gene in 2 affected males in this family (I179S; <a href="/entry/308840#0010">308840.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7562969+1870106" 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="#22" class="mim-tip-reference" title="Okamoto, N., Wada, Y., Goto, M. <strong>Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM.</strong> J. Med. Genet. 34: 670-671, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9279760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9279760</a>] [<a href="https://doi.org/10.1136/jmg.34.8.670" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9279760">Okamoto et al. (1997)</a> identified a mutation in the L1CAM gene (<a href="/entry/308840#0012">308840.0012</a>) in a child with features of X-linked hydrocephalus who also had Hirschsprung disease and cleft palate. The mother was heterozygous for the mutation. <a href="#22" class="mim-tip-reference" title="Okamoto, N., Wada, Y., Goto, M. <strong>Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM.</strong> J. Med. Genet. 34: 670-671, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9279760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9279760</a>] [<a href="https://doi.org/10.1136/jmg.34.8.670" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9279760">Okamoto et al. (1997)</a> acknowledged that X-linked hydrocephalus and Hirschsprung disease may be independent events in this patient, but suggested that L1CAM may contribute to both phenotypes. Three additional patients with X-linked hydrocephalus and coincident Hirschsprung disease have been found to have mutations in the L1CAM gene (see <a href="/entry/308840#0014">308840.0014</a>-<a href="/entry/308840#0015">308840.0015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9279760" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bott, L., Boute, O., Mention, K., Vinchon, M., Boman, F., Gottrand, F. <strong>Congenital idiopathic intestinal pseudo-obstruction and hydrocephalus with stenosis of the aqueduct of Sylvius.</strong> Am. J. Med. Genet. 130A: 84-87, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15368500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15368500</a>] [<a href="https://doi.org/10.1002/ajmg.a.30793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15368500">Bott et al. (2004)</a> described an association between X-linked hydrocephalus with stenosis of the aqueduct of Sylvius and a form of congenital idiopathic intestinal pseudoobstruction (<a href="/entry/300048">300048</a>) in which Cajal cells were lacking in an infant. The patient carried a mutation in exon 22 of the L1CAM gene (<a href="/entry/308840#0016">308840.0016</a>), which encodes the fibronectin type III domain of the L1CAM protein; other L1CAM mutations are involved in Hirschsprung disease as a quantitative defect in the migration of neural crest cells in distal segments of the gut. <a href="#2" class="mim-tip-reference" title="Bott, L., Boute, O., Mention, K., Vinchon, M., Boman, F., Gottrand, F. <strong>Congenital idiopathic intestinal pseudo-obstruction and hydrocephalus with stenosis of the aqueduct of Sylvius.</strong> Am. J. Med. Genet. 130A: 84-87, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15368500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15368500</a>] [<a href="https://doi.org/10.1002/ajmg.a.30793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15368500">Bott et al. (2004)</a> suggested that the L1CAM mutation might cause a type of intestinal obstruction representing a defect in the differentiation of Cajal cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15368500" 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>Hydrocephalus due to stenosis of the aqueduct of Sylvius was described by <a href="#29" class="mim-tip-reference" title="Scharli, A. F. <strong>Kongenitale, hereditaere Stenose oder Atresia des Aquaeductis Sylvii (congenital, hereditary stenosis or atresia of the aqueduct of Sylvius).</strong> Ztschr. Kinderchir. 18: 19-24, 1976."None>Scharli (1976)</a> in 2 sisters who developed symptoms during puberty. One of the sisters gave birth to a girl with aqueductal atresia. All 3 were successfully treated with a ventriculoatrial shunt. They appear to have had a disorder distinct from that discussed here.</p><p>See <a href="/entry/302200">302200</a> for historical accounts of X-linked congenital hydrocephalus with cataract.</p>
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<a href="#Edwards1961" class="mim-tip-reference" title="Edwards, J. H. <strong>The syndrome of sex-linked hydrocephalus.</strong> Arch. Dis. Child. 36: 486-493, 1961.">Edwards et al. (1961)</a>; <a href="#Faivre1976" class="mim-tip-reference" title="Faivre, J., Le Marec, B., Bretagne, J., Pecker, J. <strong>X-linked hydrocephalus, with aqueductal stenosis, mental retardation, and adduction-flexion deformity of the thumbs: report of a family.</strong> Child's Brain 2: 226-233, 1976.">Faivre et al. (1976)</a>; <a href="#Fanconi1934" class="mim-tip-reference" title="Fanconi, G. <strong>Zur Diagnose und Therapie hydrocephalischer und verwandter Zustande.</strong> Schweiz. Med. Wschr. 64: 214-223, 1934.">Fanconi (1934)</a>; <a href="#Habib1979" class="mim-tip-reference" title="Habib, Z. <strong>Neonatal X-linked hydrocephalus: findings in two affected brothers.</strong> Hereditas 91: 79-82, 1979.">Habib
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(1979)</a>; <a href="#Holmes1973" class="mim-tip-reference" title="Holmes, L. B., Nash, A., ZuRhein, G. M., Levin, M., Opitz, J. M. <strong>X-linked aqueductal stenosis: clinical and neuropathological findings in two families.</strong> Pediatrics 51: 697-704, 1973.">Holmes et al. (1973)</a>; <a href="#Jansen1975" class="mim-tip-reference" title="Jansen, J. <strong>Sex-linked hydrocephalus.</strong> Dev. Med. Child Neurol. 17: 633-640, 1975.">Jansen (1975)</a>; <a href="#Ribierre1970" class="mim-tip-reference" title="Ribierre, M., Couvreur, J., Canetti, J. <strong>Les hydrocephalies par stenose de l'aqueduc de Sylvius dans la toxoplasmose congenitale.</strong> Arch. Franc. Pediat. 27: 501-510, 1970.">Ribierre et al. (1970)</a>; <a href="#Shannon1968" class="mim-tip-reference" title="Shannon, M. W., Nadler, H. L. <strong>X-linked hydrocephalus.</strong> J. Med. Genet. 5: 326-328, 1968.">Shannon and Nadler (1968)</a>
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Bickers, D. S., Adams, R. D.
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<strong>Hereditary stenosis of the aqueduct of Sylvius as a cause of congenital hydrocephalus.</strong>
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Brain 72: 246-262, 1949.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18136715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18136715</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18136715" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/brain/72.2.246" target="_blank">Full Text</a>]
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Bott, L., Boute, O., Mention, K., Vinchon, M., Boman, F., Gottrand, F.
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<strong>Congenital idiopathic intestinal pseudo-obstruction and hydrocephalus with stenosis of the aqueduct of Sylvius.</strong>
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Am. J. Med. Genet. 130A: 84-87, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15368500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15368500</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15368500" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Burton, B. K.
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<strong>Recurrence risk for congenital hydrocephalus.</strong>
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Clin. Genet. 16: 47-53, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/573187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">573187</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=573187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1979.tb00848.x" target="_blank">Full Text</a>]
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Clewell, W. H., Johnson, M. L., Meier, P. R., Newkirk, J. B., Zide, S. L., Hendee, R. W., Bowes, W. A., Hecht, F., O'Keeffe, D., Henry, G. P., Shikes, R. H.
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<strong>A surgical approach to the treatment of fetal hydrocephalus.</strong>
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New Eng. J. Med. 306: 1320-1325, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7070456/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7070456</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7070456" 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/10.1056/NEJM198206033062202" target="_blank">Full Text</a>]
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Edwards, J. H., Norman, R. M., Roberts, J. M.
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<strong>Sex-linked hydrocephalus. Report of a family with 15 affected members.</strong>
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Arch. Dis. Child. 36: 481-485, 1961.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13889294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13889294</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13889294" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/adc.36.189.481" target="_blank">Full Text</a>]
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Edwards, J. H.
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<strong>The syndrome of sex-linked hydrocephalus.</strong>
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Arch. Dis. Child. 36: 486-493, 1961.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13889295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13889295</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13889295" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Faivre, J., Le Marec, B., Bretagne, J., Pecker, J.
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<strong>X-linked hydrocephalus, with aqueductal stenosis, mental retardation, and adduction-flexion deformity of the thumbs: report of a family.</strong>
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Child's Brain 2: 226-233, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/991665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">991665</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=991665" 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/10.1159/000119619" target="_blank">Full Text</a>]
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Fanconi, G.
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<strong>Zur Diagnose und Therapie hydrocephalischer und verwandter Zustande.</strong>
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Schweiz. Med. Wschr. 64: 214-223, 1934.
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Fryns, J. P., Spaepen, A., Cassiman, J. J., Van den Berghe, H.
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<strong>X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28. (Letter)</strong>
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J. Med. Genet. 28: 429-431, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1870106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1870106</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1870106" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.28.6.429-a" target="_blank">Full Text</a>]
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Habib, Z.
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<strong>Neonatal X-linked hydrocephalus: findings in two affected brothers.</strong>
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Hereditas 91: 79-82, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/500393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">500393</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=500393" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1601-5223.1979.tb01644.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.23.1.23" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s004310051123" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.18.4.252" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1469-8749.1975.tb03532.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.30.3.214" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1988.tb03467.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1469-8749.1979.tb01678.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0888-7543(05)80254-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s10038-004-0153-4" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.34.8.670" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.10185" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.33803" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.32.7.549" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.18.3.260" target="_blank">Full Text</a>]
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Scharli, A. F.
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|
<strong>Kongenitale, hereditaere Stenose oder Atresia des Aquaeductis Sylvii (congenital, hereditary stenosis or atresia of the aqueduct of Sylvius).</strong>
|
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Ztschr. Kinderchir. 18: 19-24, 1976.
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</p>
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<a id="30" class="mim-anchor"></a>
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<a id="Schrander-Stumpel1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schrander-Stumpel, C., Howeler, C., Jones, M., Sommer, A., Stevens, C., Tinschert, S., Israel, J., Fryns, J. P.
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<strong>Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): clinical review with six additional families.</strong>
|
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Am. J. Med. Genet. 57: 107-116, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7645588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7645588</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7645588" 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.1320570122" target="_blank">Full Text</a>]
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<a id="31" class="mim-anchor"></a>
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<a id="Schrander-Stumpel1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schrander-Stumpel, C., Legius, E., Fryns, J. P., Cassiman, J. J.
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<strong>MASA syndrome: new clinical features and linkage analysis using DNA probes.</strong>
|
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J. Med. Genet. 27: 688-692, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2277384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2277384</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2277384" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.27.11.688" target="_blank">Full Text</a>]
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<li>
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<a id="32" class="mim-anchor"></a>
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<a id="Serville1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Serville, F., Lyonnet, S., Pelet, A., Reynaud, M., Louail, C., Munnich, A., Le Merrer, M.
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<strong>X-linked hydrocephalus: clinical heterogeneity at a single gene locus.</strong>
|
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Europ. J. Pediat. 151: 515-518, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1396913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1396913</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1396913" 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/BF01957757" target="_blank">Full Text</a>]
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<li>
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<a id="33" class="mim-anchor"></a>
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<a id="Shannon1968" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shannon, M. W., Nadler, H. L.
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<strong>X-linked hydrocephalus.</strong>
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J. Med. Genet. 5: 326-328, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5713648/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5713648</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5713648" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.5.4.326" target="_blank">Full Text</a>]
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<a id="34" class="mim-anchor"></a>
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<a id="Sovik1977" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sovik, O., Van der Hagen, C. B., Loken, A. C.
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<strong>X-linked aqueductal stenosis.</strong>
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Clin. Genet. 11: 416-420, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/301802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">301802</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=301802" 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="35" class="mim-anchor"></a>
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<a id="Strain1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Strain, L., Gosden, C. M., Brock, D. J. H., Bonthron, D. T.
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<strong>Genetic heterogeneity in X-linked hydrocephalus: linkage to markers within Xq27.3.</strong>
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Am. J. Hum. Genet. 54: 236-243, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8304340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8304340</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8304340" 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="36" class="mim-anchor"></a>
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<a id="Varadi1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Varadi, V., Csecsei, K., Szeifert, G. T., Toth, Z., Papp, Z.
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<strong>Prenatal diagnosis of X linked hydrocephalus without aqueductal stenosis.</strong>
|
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J. Med. Genet. 24: 207-209, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3295245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3295245</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3295245" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.24.4.207" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="37" class="mim-anchor"></a>
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<a id="Willems1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Willems, P. J., Brouwer, O. F., Dijkstra, I., Wilmink, J.
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<strong>X-linked hydrocephalus.</strong>
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Am. J. Med. Genet. 27: 921-928, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3425602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3425602</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3425602" 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.1320270419" target="_blank">Full Text</a>]
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<li>
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<a id="38" class="mim-anchor"></a>
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<a id="Willems1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Willems, P. J., Dijkstra, I., Van der Auwera, B. J., Vits, L., Coucke, P. J., Raeymaekers, P., Van Broeckhoven, C., Dumon, J. E.
|
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<strong>Assignment of X-linked hydrocephalus to Xq28. (Abstract)</strong>
|
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Am. J. Hum. Genet. 45 (suppl.): A167 only, 1989.
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<a id="39" class="mim-anchor"></a>
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<a id="Willems1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Willems, P. J., Dijkstra, I., Van der Auwera, B. J., Vits, L., Coucke, P., Raeymaekers, P., Van Broeckhoven, C., Consalez, G. G., Freeman, S. B., Warren, S. T., Brouwer, O. F., Brunner, H. G., Renier, W. O., Van Elsen, A. F., Dumon, J. E.
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<strong>Assignment of X-linked hydrocephalus to Xq28 by linkage analysis.</strong>
|
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Genomics 8: 367-370, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1979056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1979056</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1979056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(90)90294-5" target="_blank">Full Text</a>]
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<a id="40" class="mim-anchor"></a>
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<a id="Willems1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Willems, P. J., Vits, L., Raeymaekers, P., Beuten, J., Coucke, P., Holden, J. J. A., Van Broeckhoven, C., Warren, S. T., Sagi, M., Robinson, D., Dennis, N., Friedman, K. J., Magnay, D., Lyonnet, S., White, B. N., Wittwer, B. H., Aylsworth, A. S., Reicke, S.
|
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<strong>Further localization of X-linked hydrocephalus in the chromosomal region Xq28.</strong>
|
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Am. J. Hum. Genet. 51: 307-315, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1642232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1642232</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1642232" 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="41" class="mim-anchor"></a>
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<a id="Williamson1984" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Williamson, R. A., Schauberger, C. W., Varner, M. W., Aschenbrener, C. A.
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<strong>Heterogeneity of prenatal onset hydrocephalus: management and counseling implications.</strong>
|
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Am. J. Med. Genet. 17: 497-508, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6702900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6702900</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6702900" 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.1320170212" target="_blank">Full Text</a>]
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</ol>
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<br />
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</div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<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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Cassandra L. Kniffin - updated : 6/13/2006
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</span>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 12/8/2004<br>Cassandra L. Kniffin - reorganized : 11/15/2002<br>Victor A. McKusick - updated : 9/8/1999
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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<a id="editHistory" class="mim-anchor"></a>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 02/16/2023
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<span class="mim-text-font">
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carol : 02/15/2023<br>ckniffin : 02/08/2023<br>carol : 01/18/2022<br>carol : 01/11/2022<br>carol : 06/16/2016<br>alopez : 5/2/2013<br>ckniffin : 5/2/2013<br>alopez : 8/8/2012<br>carol : 10/5/2011<br>ckniffin : 10/4/2011<br>carol : 4/7/2011<br>carol : 2/11/2011<br>terry : 8/26/2008<br>wwang : 6/13/2006<br>terry : 3/3/2005<br>tkritzer : 12/9/2004<br>tkritzer : 12/8/2004<br>carol : 11/15/2002<br>ckniffin : 11/15/2002<br>jlewis : 9/17/1999<br>terry : 9/8/1999<br>carol : 1/6/1999<br>mark : 9/21/1995<br>davew : 8/17/1994<br>mimadm : 4/7/1994<br>carol : 4/1/1994<br>warfield : 3/14/1994<br>carol : 4/27/1993
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<span class="mim-font">
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<strong>#</strong> 307000
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<h3>
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<span class="mim-font">
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HYDROCEPHALUS, CONGENITAL, X-LINKED; HYCX
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS<br />
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HSAS1<br />
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HYDROCEPHALUS, X-LINKED<br />
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AQUEDUCTAL STENOSIS, X-LINKED; XLAS
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</span>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 71779008;
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<strong>ORPHA:</strong> 2182, 275543;
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<strong>DO:</strong> 10908;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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Xq28
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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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Hydrocephalus, congenital, X-linked
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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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307000
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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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X-linked recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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L1CAM
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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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308840
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because X-linked congenital hydrocephalus (HYCX) is caused by mutation in the gene encoding the L1 cell adhesion molecule (L1CAM; 308840).</p><p>MASA syndrome (303350) is an allelic disorder.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The X-linked recessive form of congenital hydrocephalus (HYCX) is the most common of the inherited forms of hydrocephalus. The phenotype consists of enlarged cerebral ventricles and mental retardation, and often includes spastic paraparesis and adducted thumbs. The most severe cases die pre- or perinatally with gross hydrocephalus and enlarged head circumference. Stenosis of the aqueduct of Sylvius is frequently associated with the disorder (Rosenthal et al., 1992). </p><p>See HYC1 (236600) for a discussion of nonsyndromic autosomal recessive forms of hydrocephalus.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The hydrocephalus may become arrested and the principal manifestations may be mental deficiency and spastic paraplegia. Hypoplasia and contracture of the thumb are characteristic (Edwards, 1961) but were not present in any of the 7 affected males in the family studied by Bickers and Adams (1949) and later by Holmes and Nash (1967). </p><p>In a Norwegian family reported by Sovik et al. (1977), all but 1 of 8 affected children died at or within 10 days of birth. Thumb contracture was not noted. Howard et al. (1981) stated that about a third of cases of congenital hydrocephalus are the result of aqueductal stenosis, but not all of these are the X-linked form. At least 32 families with the X-linked form had been reported by 1981. Flexed adducted thumbs have been noted in some affected members of about half the families. Clewell et al. (1982) reported 2 male sibs with X-linked aqueductal stenosis. Adducted thumbs were not observed, but 1 of the infants showed bilateral flexion contractions of the wrists and metacarpophalangeal joints--a finding noted since the first ultrasound evaluation at gestational age 16 weeks. </p><p>In a study of noncommunicating hydrocephalus in Victoria, Australia, during a 20-year period (Halliday et al., 1986), 12 definite and 13 probable cases were found. Absence of the pyramids was found in all 9 cases in whom necropsy sections of the medulla were available. Most of the patients showed pyramidal tract signs; mental retardation was usual in survivors. Adduction of the thumb occurred in 44% of cases. </p><p>The family reported by Kelley et al. (1988) reemphasized the points that XLAS may be accompanied by a head of normal size despite severe retardation and that major CNS malformations may occur in addition to the aqueductal stenosis. The findings in the 5-generation pedigree studied by Serville et al. (1992) emphasized the phenotypic variability. Ventricular dilatation in affected males was either severe and diagnosed antenatally or moderate and consistent with long survival with little or no macrocephaly. </p><p>Schrander-Stumpel et al. (1995) reported 5 families with definite hydrocephalus accompanied by various features, including macrocephaly, mental retardation, spastic paraplegia, adducted thumbs, and agenesis of the corpus callosum. </p><p>Some patients with X-linked hydrocephalus have been reported with Hirschsprung disease (see, e.g., Okamoto et al., 1997; Parisi et al., 2002; Okamoto et al., 2004) or congenital idiopathic intestinal pseudoobstruction (Bott et al., 2004). </p><p>Rehnberg et al. (2011) reported a Swedish infant in whom hydrocephalus was detected by fetal ultrasound at 36 weeks' gestation. Soon after birth, he was noted to have global hypotonia and bilateral adducted thumbs. He showed developmental delay and cognitive impairment in early childhood. Family history was notable for 2 deceased maternal uncles with hydrocephalus, cognitive impairment, spastic paraplegia, and adducted thumbs. Genetic analysis identified a splice site mutation in the L1CAM gene (308840.0018) in the proband, his unaffected mother, maternal grandmother, and sister. The proband was hemizygous for the mutation, and his female relatives were heterozygous for the mutation. Rehnberg et al. (2011) noted that the mother developed metastatic clear cell renal cell carcinoma (RCC; 144700) at age 46, and they speculated that the L1CAM mutation may have stimulated tumor migration and growth in this patient. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Diagnosis</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Sajid and Copple (1968) found basilar impression (109500) as an associated feature in 2 brothers and suggested its usefulness in diagnosis. </p><p>Diagnosis of hydrocephalus is determined by brain imaging, and may be suspected if macrocephaly is present. In a Dutch family described by Willems et al. (1987), progressive increase in head circumference led to the diagnosis in 3 patients; however, in 5 with normal head size, the initial diagnosis had been 'nonspecific' mental retardation. Moderate to severe hydrocephaly was present in all macrocephalic patients and in 3 of the 5 with normal occipital frontal circumference. CT scan of the brain did not show aqueductal stenosis in any of these patients. The characteristic clasped thumb was illustrated. </p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
|
|
Prenatal diagnosis can be determined by ultrasound examination (Schrander-Stumpel et al., 1995). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Clinical Management</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">
|
|
<p>Clewell et al. (1982) implanted a ventriculoamniotic shunt in a 24-week fetus with probable X-linked aqueductal stenosis. Fetal head size increased normally until after the 32nd week, when the shunt failed. After cesarean delivery at 34 weeks, a standard ventriculoperitoneal shunt was placed. Williamson et al. (1984) discussed heterogeneity in congenital hydrocephalus and the indications for fetal surgery. They suggested that X-linked aqueductal stenosis might be most appropriate for such treatment. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Population Genetics</strong>
|
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</span>
|
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</h4>
|
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</div>
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|
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<span class="mim-text-font">
|
|
<p>In a Chicago study, Burton (1979) estimated that 'up to 25% of aqueductal obstruction in males may be the result of an X-linked recessive disorder.' </p><p>Rosenthal et al. (1992) noted that HYCX occurs in approximately 1/30,000 male births. In a study of internal hydrocephalus and aqueductal stenosis, Haverkamp et al. (1999) found that 13 patients (37.1%) had a genetic etiology and that 2 of 35 cases had X-linked hydrocephalus as the basis of the anomaly. </p>
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</span>
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<div>
|
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<br />
|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Pathogenesis</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">
|
|
<p>Landrieu et al. (1979) failed to find stenosis of the aqueduct in 1 affected male in a family with many cases, although some changes compatible with compression of the brainstem were present. This experience led them to suggest that aqueductal stenosis is a secondary phenomenon and that the hydrocephalus begins as the communicating form. Communicating hydrocephalus followed by aqueductal stenosis is known also in mutant mice and in virus-induced experimental hydrocephalus. Varadi et al. (1987) also reported a case of X-linked hydrocephalus without aqueductal stenosis and reviewed other observations suggesting that aqueductal stenosis is a secondary phenomenon in X-linked hydrocephalus. Willems et al. (1987) raised the possibility that aqueductal stenosis, when present, is not the cause but the result of hydrocephaly. If true, the commonly used designation X-linked aqueductal stenosis may be a misnomer. Landrieu et al. (1979) concluded that the adducted thumb, present in about a fourth of cases, is not secondary to a neurologic defect but is a developmental defect, i.e., a localized atrophy or agenesis of the abductor and extensor muscles of the thumbs. The conclusion was based on electrophysiologic findings and direct observation during surgery. The 'clasped thumb' may be difficult to distinguish from a spastic flexion of the thumb in the bipyramidal syndrome commonly associated with severe hydrocephalus. </p>
|
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</span>
|
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<div>
|
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<br />
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
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|
<span class="mim-text-font">
|
|
<p>Willems et al. (1989) found that X-linked hydrocephalus is linked to F8C (300841) and to DNA marker DXS52 at Xq28; the maximum lod score was 2.52 and 3.23, respectively, at theta = 0.00. In their full report, Willems et al. (1990) gave the following data: DXS52, maximum lod = 6.52 at theta = 0.03; F8C, maximum lod = 4.32 at theta = 0.00; and DXS15, maximum lod = 3.40 at theta = 0.00. Serville et al. (1992) confirmed the localization of the HSAS1 gene to Xq28 in a 5-generation pedigree; maximum lod = 4.57 at theta = 0.04 for linkage to DXS52. Willems et al. (1992), who suggested that this form of hydrocephalus is the most frequent genetic type, used a panel of 18 Xq27-q28 marker loci to narrow down the localization of the HSAS gene in 13 families of different ethnic origin. Multipoint linkage analysis localized the gene to the telomeric part of Xq28, with a maximum lod score of 20.91 at 0.5 cM distal to DXS52. One crossover between HSAS and F8C suggested that the HSAS gene is proximal to F8C. Therefore, HSAS is probably located in an approximately 2-Mb region between DXS52 and F8C. Similar conclusions were arrived at by Lyonnet et al. (1992) in 5 presumably independent families and by Jouet et al. (1993) in 4 others. </p><p><strong><em>Heterogeneity</em></strong></p><p>
|
|
There may be a separate form of X-linked hydrocephalus; Strain et al. (1994) investigated a family with typical X-linked aqueductal stenosis in which linkage to markers in the region of the L1CAM gene was excluded and close linkage established to a more proximal site. </p>
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</span>
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<div>
|
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<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">
|
|
<p>The nature of the gene defect in X-linked hydrocephalus was established by the candidate gene approach. Schrander-Stumpel et al. (1990) noted that similar linkage of HYCX and the MASA syndrome (303350) to Xq28 and overlapping features of the two disorders suggested that they may be allelic. Based on these and other observations, Rosenthal et al. (1992) examined the L1CAM gene in an HSAS family and identified a point mutation (308840.0001) that segregated with the disease. </p><p>Fryns et al. (1991) reported the findings in a 3-generation family which further suggested that X-linked complicated spastic paraplegia, MASA syndrome, and X-linked hydrocephalus due to congenital stenosis of the aqueduct of Sylvius are variable clinical manifestations of mutations at the same locus at Xq28. Ruiz et al. (1995) found a novel mutation of the L1CAM gene in 2 affected males in this family (I179S; 308840.0010). </p><p>Okamoto et al. (1997) identified a mutation in the L1CAM gene (308840.0012) in a child with features of X-linked hydrocephalus who also had Hirschsprung disease and cleft palate. The mother was heterozygous for the mutation. Okamoto et al. (1997) acknowledged that X-linked hydrocephalus and Hirschsprung disease may be independent events in this patient, but suggested that L1CAM may contribute to both phenotypes. Three additional patients with X-linked hydrocephalus and coincident Hirschsprung disease have been found to have mutations in the L1CAM gene (see 308840.0014-308840.0015). </p><p>Bott et al. (2004) described an association between X-linked hydrocephalus with stenosis of the aqueduct of Sylvius and a form of congenital idiopathic intestinal pseudoobstruction (300048) in which Cajal cells were lacking in an infant. The patient carried a mutation in exon 22 of the L1CAM gene (308840.0016), which encodes the fibronectin type III domain of the L1CAM protein; other L1CAM mutations are involved in Hirschsprung disease as a quantitative defect in the migration of neural crest cells in distal segments of the gut. Bott et al. (2004) suggested that the L1CAM mutation might cause a type of intestinal obstruction representing a defect in the differentiation of Cajal cells. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>History</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>Hydrocephalus due to stenosis of the aqueduct of Sylvius was described by Scharli (1976) in 2 sisters who developed symptoms during puberty. One of the sisters gave birth to a girl with aqueductal atresia. All 3 were successfully treated with a ventriculoatrial shunt. They appear to have had a disorder distinct from that discussed here.</p><p>See 302200 for historical accounts of X-linked congenital hydrocephalus with cataract.</p>
|
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
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</h4>
|
|
<span class="mim-text-font">
|
|
Edwards et al. (1961); Faivre et al. (1976); Fanconi (1934); Habib
|
|
(1979); Holmes et al. (1973); Jansen (1975); Ribierre et al. (1970);
|
|
Shannon and Nadler (1968)
|
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
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<ol>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Bickers, D. S., Adams, R. D.
|
|
<strong>Hereditary stenosis of the aqueduct of Sylvius as a cause of congenital hydrocephalus.</strong>
|
|
Brain 72: 246-262, 1949.
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[PubMed: 18136715]
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[Full Text: https://doi.org/10.1093/brain/72.2.246]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Bott, L., Boute, O., Mention, K., Vinchon, M., Boman, F., Gottrand, F.
|
|
<strong>Congenital idiopathic intestinal pseudo-obstruction and hydrocephalus with stenosis of the aqueduct of Sylvius.</strong>
|
|
Am. J. Med. Genet. 130A: 84-87, 2004.
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[PubMed: 15368500]
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[Full Text: https://doi.org/10.1002/ajmg.a.30793]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Burton, B. K.
|
|
<strong>Recurrence risk for congenital hydrocephalus.</strong>
|
|
Clin. Genet. 16: 47-53, 1979.
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[PubMed: 573187]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1979.tb00848.x]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Clewell, W. H., Johnson, M. L., Meier, P. R., Newkirk, J. B., Zide, S. L., Hendee, R. W., Bowes, W. A., Hecht, F., O'Keeffe, D., Henry, G. P., Shikes, R. H.
|
|
<strong>A surgical approach to the treatment of fetal hydrocephalus.</strong>
|
|
New Eng. J. Med. 306: 1320-1325, 1982.
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[PubMed: 7070456]
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[Full Text: https://doi.org/10.1056/NEJM198206033062202]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Edwards, J. H., Norman, R. M., Roberts, J. M.
|
|
<strong>Sex-linked hydrocephalus. Report of a family with 15 affected members.</strong>
|
|
Arch. Dis. Child. 36: 481-485, 1961.
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|
[PubMed: 13889294]
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[Full Text: https://doi.org/10.1136/adc.36.189.481]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Edwards, J. H.
|
|
<strong>The syndrome of sex-linked hydrocephalus.</strong>
|
|
Arch. Dis. Child. 36: 486-493, 1961.
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|
[PubMed: 13889295]
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[Full Text: https://doi.org/10.1136/adc.36.189.486]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Faivre, J., Le Marec, B., Bretagne, J., Pecker, J.
|
|
<strong>X-linked hydrocephalus, with aqueductal stenosis, mental retardation, and adduction-flexion deformity of the thumbs: report of a family.</strong>
|
|
Child's Brain 2: 226-233, 1976.
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|
[PubMed: 991665]
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[Full Text: https://doi.org/10.1159/000119619]
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</p>
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
Fanconi, G.
|
|
<strong>Zur Diagnose und Therapie hydrocephalischer und verwandter Zustande.</strong>
|
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Contributors:
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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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Cassandra L. Kniffin - updated : 6/13/2006<br>Victor A. McKusick - updated : 12/8/2004<br>Cassandra L. Kniffin - reorganized : 11/15/2002<br>Victor A. McKusick - updated : 9/8/1999
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Creation Date:
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Victor A. McKusick : 6/4/1986
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carol : 02/16/2023<br>carol : 02/15/2023<br>ckniffin : 02/08/2023<br>carol : 01/18/2022<br>carol : 01/11/2022<br>carol : 06/16/2016<br>alopez : 5/2/2013<br>ckniffin : 5/2/2013<br>alopez : 8/8/2012<br>carol : 10/5/2011<br>ckniffin : 10/4/2011<br>carol : 4/7/2011<br>carol : 2/11/2011<br>terry : 8/26/2008<br>wwang : 6/13/2006<br>terry : 3/3/2005<br>tkritzer : 12/9/2004<br>tkritzer : 12/8/2004<br>carol : 11/15/2002<br>ckniffin : 11/15/2002<br>jlewis : 9/17/1999<br>terry : 9/8/1999<br>carol : 1/6/1999<br>mark : 9/21/1995<br>davew : 8/17/1994<br>mimadm : 4/7/1994<br>carol : 4/1/1994<br>warfield : 3/14/1994<br>carol : 4/27/1993
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