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Entry
- #314390 - VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX
- OMIM
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<span class="h4">#314390</span>
<br />
<strong>Table of Contents</strong>
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<li role="presentation">
<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">
<a href="/clinicalSynopsis/314390"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
</li>
<li role="presentation">
<a href="#seeAlso"><strong>See Also</strong></a>
</li>
<li role="presentation">
<a href="#references"><strong>References</strong></a>
</li>
<li role="presentation">
<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
<a href="#creationDate"><strong>Creation Date</strong></a>
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9660;</div>
&nbsp;
<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=(VACTERL ASSOCIATION, X-LINKED, WITH WITHOUT HYDROCEPHALUS) OR (ZIC3)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=3007&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
<div><a href="https://www.diseaseinfosearch.org/x/7332" 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>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=314390[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>
<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3412" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111766" 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>
<div><a href="http://www.informatics.jax.org/disease/314390" 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>
<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>
<div><a href="https://wormbase.org/resources/disease/DOID:0111766" 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 class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
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</a>
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<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:314390" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
<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.">
&nbsp;
</span>
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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">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>ORPHA:</strong> 3412<br />
<strong>DO:</strong> 0111766<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
314390
</span>
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</div>
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<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
VACTERL-H, X-LINKED
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/728?start=-3&limit=10&highlight=728">
Xq26.3
</a>
</span>
</td>
<td>
<span class="mim-font">
VACTERL association, X-linked
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/314390"> 314390 </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">
ZIC3
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300265"> 300265 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/314390" 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>
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&nbsp;
<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/314390" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/314390" 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> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cardiac malformations, variable <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230777&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230777</a>]</span><br /> -
Atrial isomerism <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230776&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230776</a>]</span><br /> -
Atrioventricular septal defect <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1389016&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1389016</a>, <a href="https://bioportal.bioontology.org/search?q=C1389018&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1389018</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006695" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006695</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006695" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006695</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Vascular </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Subvalvular pulmonary stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204370002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204370002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q24.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q24.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/746.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">746.83</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034084&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034084</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034348" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034348</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034348" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034348</a>]</span><br /> -
Transposition of the great arteries <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26146002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26146002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q20.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q20.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/745.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040761&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040761</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001669" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001669</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001669" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001669</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Airways </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Tracheoesophageal fistula <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95435007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95435007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/530.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">530.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040588</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002575" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002575</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002575" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002575</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Imperforate anus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204712000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204712000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q42.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q42.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003466&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003466</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002023</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002023</a>]</span><br /> -
Anal atresia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204712000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204712000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q42.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q42.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003466&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003466</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002023</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002023</a>]</span><br /> -
Tracheoesophageal fistula <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95435007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95435007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/530.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">530.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040588</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002575" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002575</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002575" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002575</a>]</span><br />
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<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
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<span class="h5 mim-font">
<em> Kidneys </em>
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<div style="margin-left: 2em;">
<span class="mim-font">
- Hydronephrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43064006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43064006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.30</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/591" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">591</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020295</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span><br /> -
Enlarged kidneys <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/300444006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">300444006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0542518&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0542518</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000105" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000105</a>]</span><br />
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<span class="h5 mim-font">
<em> Bladder </em>
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<div style="margin-left: 2em;">
<span class="mim-font">
- Urethral atresia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253902002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253902002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0345345&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345345</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000068" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000068</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000068" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000068</a>]</span><br />
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<span class="h5 mim-font">
<strong> SKELETAL </strong>
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<div style="margin-left: 2em;">
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<span class="h5 mim-font">
<em> Spine </em>
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<div style="margin-left: 2em;">
<span class="mim-font">
- Vertebral anomalies <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61367005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61367005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834129&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834129</a>, <a href="https://bioportal.bioontology.org/search?q=C0265343&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265343</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003468" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003468</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003468" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003468</a>]</span><br />
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<span class="h5 mim-font">
<em> Limbs </em>
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<div style="margin-left: 2em;">
<span class="mim-font">
- Humeral hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1832117&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832117</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005792" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005792</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005792" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005792</a>]</span><br /> -
Radial aplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838608&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838608</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003974" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003974</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003974" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003974</a>]</span><br />
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<em> Hands </em>
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<div style="margin-left: 2em;">
<span class="mim-font">
- Hexadactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/201698009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">201698009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0302246&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0302246</a>]</span><br /> -
Proximally placed thumb <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009623" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009623</a>]</span><br />
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<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
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<div style="margin-left: 2em;">
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<em> Central Nervous System </em>
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<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 />
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<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
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<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the zic family member-3 gene (ZIC3, <a href="/entry/300265#0010">300265.0010</a>)<br />
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<p>A number sign (#) is used with this entry because X-linked VACTERL syndrome with or without hydrocephalus (VACTERLX) is caused by mutation in or deletion of the ZIC3 gene (<a href="/entry/300265">300265</a>) on chromosome Xq26.</p><p>Mutation in the ZIC3 gene can also cause X-linked visceral heterotaxy-1 (HTX1; <a href="/entry/306955">306955</a>), which shows overlapping features.</p><p>See also Fanconi anemia, complementation group B (FANCB; <a href="/entry/300514">300514</a>), which is another genetic cause of X-linked VACTERL-H.</p>
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<strong>Description</strong>
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<p>VACTERL is an acronym for vertebral anomalies (similar to those of spondylocostal dysplasia), anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb; see <a href="/entry/192350">192350</a>). Some patients may have hydrocephalus, which is referred to as VACTERL-H (<a href="#1" class="mim-tip-reference" title="Briard, M. L., Le Merrer, M., Plauchu, H., Dodinval, P., Lambotte, C., Moraine, C., Serville, F. &lt;strong&gt;Association VACTERL et hydrocephalie: une nouvelle entite familiale.&lt;/strong&gt; Ann. Genet. 27: 220-223, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6335367/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6335367&lt;/a&gt;]" pmid="6335367">Briard et al., 1984</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6335367" 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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<strong>Clinical Features</strong>
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<p><a href="#3" class="mim-tip-reference" title="Froster, U. G., Wallner, S. J., Reusche, E., Schwinger, E., Rehder, H. &lt;strong&gt;VACTERL with hydrocephalus and branchial arch defects: prenatal, clinical, and autopsy findings in two brothers.&lt;/strong&gt; Am. J. Med. Genet. 62: 169-172, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8882398/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8882398&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1096-8628(19960315)62:2&lt;169::AID-AJMG10&gt;3.0.CO;2-M&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8882398">Froster et al. (1996)</a> suggested possible X-linked inheritance in the cases of 2 brothers with VACTERL and hydrocephalus. They described for the first time an additional feature of branchial arch defects. The parents were of average age and unrelated. The first infant with multiple congenital anomalies noted at birth died at the age of 7 weeks. There were bilateral auricular malformation with atresia of the external auditory canal, dolichocephaly, cleft palate, hypertelorism, prominent philtrum, thin lips, retrognathia, and a short broad neck. There was bilateral radial aplasia with only 2 rays but a rudimentary thumb on the right hand; anal atresia (surgically corrected after birth), malrotation of the bowel; a bronchogenic cyst of the esophagus directly above the esophageal hiatus of the diaphragm, and incomplete lung lobation; agenesis of the pancreas, absence of the right kidney and a dysplastic double kidney on the left side, and a subaortic ventricular septal defect with a dextroverted aorta (Eisenmenger complex). There was internal hydrocephalus with thinning of the cortex and partial agenesis of the corpus callosum. The second affected sib was shown by prenatal ultrasound to have multiple defects, including bilateral radial agenesis and hydrocephalus. Termination of pregnancy at 24 weeks showed absence of the radii with short thumbs, defects of the third ray on both hands, malformed auricles with microtia on the right, and atresia of the ear canal. Autopsy findings included a hypoplastic pancreas, incomplete lung lobation, arteria lusoria, and agenesis of corpus callosum with hydrocephalus, without signs of Arnold-Chiari malformation. Both kidneys and the heart were normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8882398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Lomas, F. E., Dahlstrom, J. E., Ford, J. H. &lt;strong&gt;VACTERL with hydrocephalus: family with X-linked VACTERL-H.&lt;/strong&gt; Am. J. Med. Genet. 76: 74-78, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9508070/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9508070&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19980226)76:1&lt;74::aid-ajmg14&gt;3.0.co;2-m&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9508070">Lomas et al. (1998)</a> reported a family with 4 affected males with symmetric radial ray abnormalities, renal anomalies, anal atresia, hypoplastic penis/abnormal testes, and cardiac abnormalities. They also had hydrocephalus due to aqueductal stenosis. One maternal female cousin of affected males had severe tracheoesophageal fistula, which may have represented partial manifestation in a female carrier. Chromosomes were apparently normal 46,XY with no spontaneous or excess induced breakages in one of the affected offspring and his mother. A confident ultrasonographic diagnosis was possible by 20 weeks in 2 cases in which testing was done. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9508070" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Wessels, M. W., Kuchinka, B., Heydanus, R., Smit, B. J., Dooijes, D., de Krijger, R. R., Lequin, M. H., de Jong, E. M., Husen, M., Willems, P. J., Casey, B. &lt;strong&gt;Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder? (Letter)&lt;/strong&gt; J. Med. Genet. 47: 351-355, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20452998/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20452998&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2008.060913&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20452998">Wessels et al. (2010)</a> reported a male infant with VACTERL association. He was born with anal atresia, laryngeal and esophageal atresia with tracheoesophageal fistula, dextroposition of the heart with persistent left superior vena cava, and unilateral multicystic kidney. Limb defects and hydrocephalus were not noted. He died 1 hour after birth. <a href="#6" class="mim-tip-reference" title="Wessels, M. W., Kuchinka, B., Heydanus, R., Smit, B. J., Dooijes, D., de Krijger, R. R., Lequin, M. H., de Jong, E. M., Husen, M., Willems, P. J., Casey, B. &lt;strong&gt;Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder? (Letter)&lt;/strong&gt; J. Med. Genet. 47: 351-355, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20452998/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20452998&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2008.060913&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20452998">Wessels et al. (2010)</a> noted the phenotypic overlap with X-linked heterotaxy (<a href="/entry/306955">306955</a>) caused by ZIC3 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20452998" 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="Chung, B., Shaffer, L. G., Keating, S., Johnson, J., Casey, B., Chitayat, D. &lt;strong&gt;From VACTERL-H to heterotaxy: variable expressivity of ZIC3-related disorders.&lt;/strong&gt; Am. J. Med. Genet. 155A: 1123-1128, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21465648/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21465648&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33859&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21465648">Chung et al. (2011)</a> reported a 4-generation Italian family with X-linked recessive inheritance of clinical features overlapping both VACTERL-H and X-linked heterotaxy (HTX1; <a href="/entry/306955">306955</a>). The proband was an asymptomatic woman who had abnormal fetal ultrasound necessitating termination at 23.2 weeks' gestation. The male fetus had complex cardiac anomalies, including atrial isomerism, atrioventricular septal defect, double-outlet right ventricle, transposition of the great arteries, and subvalvular pulmonary stenosis. He also had enlarged kidneys, imperforate anus, right-sided stomach and pancreas, bilateral trilobed lungs, and asplenia, consistent with heterotaxy. Neuropathology was normal. Family history revealed that 2 brothers of the proband had died soon after birth. Both had imperforate anus, and postmortem examination of 1 showed hydrocephalus, vertebral defects, limb deformities, fused kidneys, complex cardiac anomalies, and duplication of the descending colon. The brother of the maternal great-grandmother reportedly had imperforate anus and other abnormalities and died soon after birth. The proband also had a 3-year-old daughter with small ventricular septal defect that did not require surgery. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21465648" 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 transmission pattern of VACTERLX in the family reported by <a href="#2" class="mim-tip-reference" title="Chung, B., Shaffer, L. G., Keating, S., Johnson, J., Casey, B., Chitayat, D. &lt;strong&gt;From VACTERL-H to heterotaxy: variable expressivity of ZIC3-related disorders.&lt;/strong&gt; Am. J. Med. Genet. 155A: 1123-1128, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21465648/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21465648&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33859&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21465648">Chung et al. (2011)</a> was consistent with X-linked recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21465648" 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 male infant with VACTERL association, <a href="#6" class="mim-tip-reference" title="Wessels, M. W., Kuchinka, B., Heydanus, R., Smit, B. J., Dooijes, D., de Krijger, R. R., Lequin, M. H., de Jong, E. M., Husen, M., Willems, P. J., Casey, B. &lt;strong&gt;Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder? (Letter)&lt;/strong&gt; J. Med. Genet. 47: 351-355, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20452998/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20452998&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2008.060913&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20452998">Wessels et al. (2010)</a> identified a de novo 6-bp in-frame insertion in exon 1 of the ZIC3 gene (<a href="/entry/300265#0010">300265.0010</a>), resulting in the addition of 2 alanines within a polyalanine repeat. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20452998" 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 family in which affected males had a clinical phenotype ranging from VACTERL-H to X-linked heterotaxy, <a href="#2" class="mim-tip-reference" title="Chung, B., Shaffer, L. G., Keating, S., Johnson, J., Casey, B., Chitayat, D. &lt;strong&gt;From VACTERL-H to heterotaxy: variable expressivity of ZIC3-related disorders.&lt;/strong&gt; Am. J. Med. Genet. 155A: 1123-1128, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21465648/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21465648&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33859&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21465648">Chung et al. (2011)</a> identified a 1.3-Mb deletion of chromosome Xq26.3 including the ZIC3 gene. The female proband, her mother, sister, grandmother, and daughter also carried the mutation. None of the females were affected, except perhaps the daughter, who had a small ventricular septal defect. The report demonstrated the wide intrafamilial phenotypic variability resulting from ZIC3 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21465648" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Genuardi1993" class="mim-tip-reference" title="Genuardi, M., Chiurazzi, P., Capelli, A., Neri, G. &lt;strong&gt;X-linked VACTERL with hydrocephalus: the VACTERL-H syndrome.&lt;/strong&gt; Birth Defects Orig. Art. Ser. 29: 235-241, 1993.">Genuardi et al. (1993)</a>
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<a id="Briard1984" class="mim-anchor"></a>
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Briard, M. L., Le Merrer, M., Plauchu, H., Dodinval, P., Lambotte, C., Moraine, C., Serville, F.
<strong>Association VACTERL et hydrocephalie: une nouvelle entite familiale.</strong>
Ann. Genet. 27: 220-223, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6335367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6335367</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6335367" 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="Chung2011" class="mim-anchor"></a>
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Chung, B., Shaffer, L. G., Keating, S., Johnson, J., Casey, B., Chitayat, D.
<strong>From VACTERL-H to heterotaxy: variable expressivity of ZIC3-related disorders.</strong>
Am. J. Med. Genet. 155A: 1123-1128, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21465648/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21465648</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21465648" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.33859" target="_blank">Full Text</a>]
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<a id="Froster1996" class="mim-anchor"></a>
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Froster, U. G., Wallner, S. J., Reusche, E., Schwinger, E., Rehder, H.
<strong>VACTERL with hydrocephalus and branchial arch defects: prenatal, clinical, and autopsy findings in two brothers.</strong>
Am. J. Med. Genet. 62: 169-172, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8882398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8882398</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8882398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(SICI)1096-8628(19960315)62:2&lt;169::AID-AJMG10&gt;3.0.CO;2-M" target="_blank">Full Text</a>]
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<a id="Genuardi1993" class="mim-anchor"></a>
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Genuardi, M., Chiurazzi, P., Capelli, A., Neri, G.
<strong>X-linked VACTERL with hydrocephalus: the VACTERL-H syndrome.</strong>
Birth Defects Orig. Art. Ser. 29: 235-241, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8280876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8280876</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8280876" 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="Lomas1998" class="mim-anchor"></a>
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<p class="mim-text-font">
Lomas, F. E., Dahlstrom, J. E., Ford, J. H.
<strong>VACTERL with hydrocephalus: family with X-linked VACTERL-H.</strong>
Am. J. Med. Genet. 76: 74-78, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9508070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9508070</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9508070" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1096-8628(19980226)76:1&lt;74::aid-ajmg14&gt;3.0.co;2-m" target="_blank">Full Text</a>]
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<a id="Wessels2010" class="mim-anchor"></a>
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Wessels, M. W., Kuchinka, B., Heydanus, R., Smit, B. J., Dooijes, D., de Krijger, R. R., Lequin, M. H., de Jong, E. M., Husen, M., Willems, P. J., Casey, B.
<strong>Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder? (Letter)</strong>
J. Med. Genet. 47: 351-355, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20452998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20452998</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20452998" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.2008.060913" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 9/21/2011
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Victor A. McKusick - updated : 1/9/2007<br>Victor A. McKusick - updated : 3/23/1998
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Victor A. McKusick : 9/1/1993
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carol : 05/09/2017
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alopez : 09/23/2016<br>carol : 09/07/2012<br>ckniffin : 8/23/2012<br>carol : 9/22/2011<br>ckniffin : 9/21/2011<br>carol : 1/29/2010<br>carol : 7/8/2009<br>terry : 8/26/2008<br>alopez : 1/10/2007<br>terry : 1/9/2007<br>alopez : 3/23/1998<br>terry : 3/19/1998<br>terry : 11/17/1997<br>mark : 4/25/1996<br>terry : 4/18/1996<br>mimadm : 2/28/1994<br>carol : 9/1/1993
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<h3>
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<strong>#</strong> 314390
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VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX
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<em>Alternative titles; symbols</em>
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VACTERL-H, X-LINKED
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<strong>ORPHA:</strong> 3412; &nbsp;
<strong>DO:</strong> 0111766; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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Xq26.3
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VACTERL association, X-linked
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314390
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X-linked recessive
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3
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ZIC3
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300265
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because X-linked VACTERL syndrome with or without hydrocephalus (VACTERLX) is caused by mutation in or deletion of the ZIC3 gene (300265) on chromosome Xq26.</p><p>Mutation in the ZIC3 gene can also cause X-linked visceral heterotaxy-1 (HTX1; 306955), which shows overlapping features.</p><p>See also Fanconi anemia, complementation group B (FANCB; 300514), which is another genetic cause of X-linked VACTERL-H.</p>
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<strong>Description</strong>
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<p>VACTERL is an acronym for vertebral anomalies (similar to those of spondylocostal dysplasia), anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb; see 192350). Some patients may have hydrocephalus, which is referred to as VACTERL-H (Briard et al., 1984). </p>
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<strong>Clinical Features</strong>
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<p>Froster et al. (1996) suggested possible X-linked inheritance in the cases of 2 brothers with VACTERL and hydrocephalus. They described for the first time an additional feature of branchial arch defects. The parents were of average age and unrelated. The first infant with multiple congenital anomalies noted at birth died at the age of 7 weeks. There were bilateral auricular malformation with atresia of the external auditory canal, dolichocephaly, cleft palate, hypertelorism, prominent philtrum, thin lips, retrognathia, and a short broad neck. There was bilateral radial aplasia with only 2 rays but a rudimentary thumb on the right hand; anal atresia (surgically corrected after birth), malrotation of the bowel; a bronchogenic cyst of the esophagus directly above the esophageal hiatus of the diaphragm, and incomplete lung lobation; agenesis of the pancreas, absence of the right kidney and a dysplastic double kidney on the left side, and a subaortic ventricular septal defect with a dextroverted aorta (Eisenmenger complex). There was internal hydrocephalus with thinning of the cortex and partial agenesis of the corpus callosum. The second affected sib was shown by prenatal ultrasound to have multiple defects, including bilateral radial agenesis and hydrocephalus. Termination of pregnancy at 24 weeks showed absence of the radii with short thumbs, defects of the third ray on both hands, malformed auricles with microtia on the right, and atresia of the ear canal. Autopsy findings included a hypoplastic pancreas, incomplete lung lobation, arteria lusoria, and agenesis of corpus callosum with hydrocephalus, without signs of Arnold-Chiari malformation. Both kidneys and the heart were normal. </p><p>Lomas et al. (1998) reported a family with 4 affected males with symmetric radial ray abnormalities, renal anomalies, anal atresia, hypoplastic penis/abnormal testes, and cardiac abnormalities. They also had hydrocephalus due to aqueductal stenosis. One maternal female cousin of affected males had severe tracheoesophageal fistula, which may have represented partial manifestation in a female carrier. Chromosomes were apparently normal 46,XY with no spontaneous or excess induced breakages in one of the affected offspring and his mother. A confident ultrasonographic diagnosis was possible by 20 weeks in 2 cases in which testing was done. </p><p>Wessels et al. (2010) reported a male infant with VACTERL association. He was born with anal atresia, laryngeal and esophageal atresia with tracheoesophageal fistula, dextroposition of the heart with persistent left superior vena cava, and unilateral multicystic kidney. Limb defects and hydrocephalus were not noted. He died 1 hour after birth. Wessels et al. (2010) noted the phenotypic overlap with X-linked heterotaxy (306955) caused by ZIC3 mutations. </p><p>Chung et al. (2011) reported a 4-generation Italian family with X-linked recessive inheritance of clinical features overlapping both VACTERL-H and X-linked heterotaxy (HTX1; 306955). The proband was an asymptomatic woman who had abnormal fetal ultrasound necessitating termination at 23.2 weeks' gestation. The male fetus had complex cardiac anomalies, including atrial isomerism, atrioventricular septal defect, double-outlet right ventricle, transposition of the great arteries, and subvalvular pulmonary stenosis. He also had enlarged kidneys, imperforate anus, right-sided stomach and pancreas, bilateral trilobed lungs, and asplenia, consistent with heterotaxy. Neuropathology was normal. Family history revealed that 2 brothers of the proband had died soon after birth. Both had imperforate anus, and postmortem examination of 1 showed hydrocephalus, vertebral defects, limb deformities, fused kidneys, complex cardiac anomalies, and duplication of the descending colon. The brother of the maternal great-grandmother reportedly had imperforate anus and other abnormalities and died soon after birth. The proband also had a 3-year-old daughter with small ventricular septal defect that did not require surgery. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of VACTERLX in the family reported by Chung et al. (2011) was consistent with X-linked recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In a male infant with VACTERL association, Wessels et al. (2010) identified a de novo 6-bp in-frame insertion in exon 1 of the ZIC3 gene (300265.0010), resulting in the addition of 2 alanines within a polyalanine repeat. </p><p>In a family in which affected males had a clinical phenotype ranging from VACTERL-H to X-linked heterotaxy, Chung et al. (2011) identified a 1.3-Mb deletion of chromosome Xq26.3 including the ZIC3 gene. The female proband, her mother, sister, grandmother, and daughter also carried the mutation. None of the females were affected, except perhaps the daughter, who had a small ventricular septal defect. The report demonstrated the wide intrafamilial phenotypic variability resulting from ZIC3 mutations. </p>
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<strong>See Also:</strong>
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Genuardi et al. (1993)
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<strong>REFERENCES</strong>
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<p class="mim-text-font">
Briard, M. L., Le Merrer, M., Plauchu, H., Dodinval, P., Lambotte, C., Moraine, C., Serville, F.
<strong>Association VACTERL et hydrocephalie: une nouvelle entite familiale.</strong>
Ann. Genet. 27: 220-223, 1984.
[PubMed: 6335367]
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<li>
<p class="mim-text-font">
Chung, B., Shaffer, L. G., Keating, S., Johnson, J., Casey, B., Chitayat, D.
<strong>From VACTERL-H to heterotaxy: variable expressivity of ZIC3-related disorders.</strong>
Am. J. Med. Genet. 155A: 1123-1128, 2011.
[PubMed: 21465648]
[Full Text: https://doi.org/10.1002/ajmg.a.33859]
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<p class="mim-text-font">
Froster, U. G., Wallner, S. J., Reusche, E., Schwinger, E., Rehder, H.
<strong>VACTERL with hydrocephalus and branchial arch defects: prenatal, clinical, and autopsy findings in two brothers.</strong>
Am. J. Med. Genet. 62: 169-172, 1996.
[PubMed: 8882398]
[Full Text: https://doi.org/10.1002/(SICI)1096-8628(19960315)62:2&lt;169::AID-AJMG10&gt;3.0.CO;2-M]
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<li>
<p class="mim-text-font">
Genuardi, M., Chiurazzi, P., Capelli, A., Neri, G.
<strong>X-linked VACTERL with hydrocephalus: the VACTERL-H syndrome.</strong>
Birth Defects Orig. Art. Ser. 29: 235-241, 1993.
[PubMed: 8280876]
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<li>
<p class="mim-text-font">
Lomas, F. E., Dahlstrom, J. E., Ford, J. H.
<strong>VACTERL with hydrocephalus: family with X-linked VACTERL-H.</strong>
Am. J. Med. Genet. 76: 74-78, 1998.
[PubMed: 9508070]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19980226)76:1&lt;74::aid-ajmg14&gt;3.0.co;2-m]
</p>
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<li>
<p class="mim-text-font">
Wessels, M. W., Kuchinka, B., Heydanus, R., Smit, B. J., Dooijes, D., de Krijger, R. R., Lequin, M. H., de Jong, E. M., Husen, M., Willems, P. J., Casey, B.
<strong>Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder? (Letter)</strong>
J. Med. Genet. 47: 351-355, 2010.
[PubMed: 20452998]
[Full Text: https://doi.org/10.1136/jmg.2008.060913]
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Contributors:
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Cassandra L. Kniffin - updated : 9/21/2011<br>Victor A. McKusick - updated : 1/9/2007<br>Victor A. McKusick - updated : 3/23/1998
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Creation Date:
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<span class="mim-text-font">
Victor A. McKusick : 9/1/1993
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carol : 05/09/2017<br>alopez : 09/23/2016<br>carol : 09/07/2012<br>ckniffin : 8/23/2012<br>carol : 9/22/2011<br>ckniffin : 9/21/2011<br>carol : 1/29/2010<br>carol : 7/8/2009<br>terry : 8/26/2008<br>alopez : 1/10/2007<br>terry : 1/9/2007<br>alopez : 3/23/1998<br>terry : 3/19/1998<br>terry : 11/17/1997<br>mark : 4/25/1996<br>terry : 4/18/1996<br>mimadm : 2/28/1994<br>carol : 9/1/1993
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