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<title>
Entry
- #249000 - MECKEL SYNDROME, TYPE 1; MKS1
- OMIM
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<span class="h4">#249000</span>
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<strong>Table of Contents</strong>
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<li role="presentation">
<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
<a href="/clinicalSynopsis/249000"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
<a href="/phenotypicSeries/PS249000"> <strong>Phenotypic Series</strong> </a>
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<li role="presentation">
<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#diagnosis">Diagnosis</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#heterogeneity">Heterogeneity</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#animalModel">Animal Model</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#nomenclature">Nomenclature</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
<a href="#references"><strong>References</strong></a>
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<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 style="display: table-cell;">External Links</div>
</div>
</a>
</h4>
</div>
</div>
<div id="mimExternalLinksFold" class="collapse in">
<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
<span class="panel-title">
<span class="small">
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9660;</div>
&nbsp;
<div style="display: table-cell;">Clinical Resources</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
<div class="panel-body small mim-panel-body">
<div><a href="https://clinicaltrials.gov/search?cond=(MECKEL SYNDROME, TYPE) OR (MKS1)" 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=280&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/4538" 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=249000[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=564" 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>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/017c3b14-50fc-474d-bd5a-48c1ccc1263c/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>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0070115" 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/249000" 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://wormbase.org/resources/disease/DOID:0070115" 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>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:249000" 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>
</div>
</div>
</div>
</div>
</div>
</div>
<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>
</span>
</div>
<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> 564<br />
<strong>DO:</strong> 0070115<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>
249000
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
MECKEL SYNDROME, TYPE 1; MKS1
</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">
MECKEL-GRUBER SYNDROME, TYPE 1<br />
MECKEL SYNDROME; MKS<br />
MES<br />
DYSENCEPHALIA SPLANCHNOCYSTICA<br />
GRUBER SYNDROME<br />
MECKEL-GRUBER SYNDROME
</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/17/781?start=-3&limit=10&highlight=781">
17q22
</a>
</span>
</td>
<td>
<span class="mim-font">
Meckel syndrome 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/249000"> 249000 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
MKS1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609883"> 609883 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/249000" 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>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS249000" 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>
&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/249000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/249000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Variable prenatal growth deficiency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855336</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Sloping forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857679&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857679</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000340" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000340</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000340" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000340</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=55cd7ed83868b07da866b39707988156" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Forehead,Sloping-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=55cd7ed83868b07da866b39707988156&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Micrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Micrognathia-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Potter-like facies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855339&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855339</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Low-set ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95515009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95515009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239234&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239234</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ear,Low-Set-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Microphthalmia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204108000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204108000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61142002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61142002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q11.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q11.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026010&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026010</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span><br /> -
Hypotelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44593008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44593008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424711&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424711</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000601" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000601</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000601" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000601</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9e1b9a0002dbf80898b12acc19faf05e" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyes,Closely_Spaced-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9e1b9a0002dbf80898b12acc19faf05e&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Iris coloboma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51485001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51485001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240063&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240063</a>, <a href="https://bioportal.bioontology.org/search?q=C0266551&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266551</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000612" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000612</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000612" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000612</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cleft palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837218</a>, <a href="https://bioportal.bioontology.org/search?q=C2981150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2981150</a>, <a href="https://bioportal.bioontology.org/search?q=C2240378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240378</a>, <a href="https://bioportal.bioontology.org/search?q=C0008925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br /> -
Cleft lip <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80281008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80281008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q36" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q36</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q36.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q36.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008924</a>, <a href="https://bioportal.bioontology.org/search?q=C4321245&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4321245</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000204" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000204</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0410030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410030</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0410030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410030</a>]</span><br /> -
Lobulated tongue <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253752000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253752000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431564&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431564</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000180" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000180</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000180" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000180</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=26e4f407b285951c50b20ed5d9a47c91" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Tongue,Lobulated-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=26e4f407b285951c50b20ed5d9a47c91&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Natal teeth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/58748004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">58748004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162501001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162501001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/21995002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">21995002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027443&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027443</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000695" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000695</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000695" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000695</a>]</span><br /> -
Macrostomia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40159009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40159009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q18.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q18.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/744.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">744.83</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024433&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024433</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000154" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000154</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000154" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000154</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=b0954434ddf5fc24e4a2f1af29680b21" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Mouth,Wide-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=b0954434ddf5fc24e4a2f1af29680b21&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Neck </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short neck <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95427009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95427009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521525&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521525</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Neck,Short-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Webbed neck <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11731003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11731003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q18.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q18.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/744.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">744.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221217&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221217</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000465" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000465</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000465" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000465</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Septal defects <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253273004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253273004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5779791&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5779791</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001671" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001671</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001671" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001671</a>]</span><br /> -
Coarctation of aorta <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7305005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7305005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q25.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/747.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">747.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/747.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">747.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003492&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003492</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001680</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001680</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">
- Patent ductus arteriosus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/83330001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">83330001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q25.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q25.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/747.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">747.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013274&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013274</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001643</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001643</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> Larynx </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cleft epiglottis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855341&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855341</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Lung </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pulmonary hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80825009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80825009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265783&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265783</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002089" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002089</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002089" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002089</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> Biliary Tract </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Bile duct proliferation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20239009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20239009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0267818&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0267818</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001408" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001408</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001408" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001408</a>]</span><br /> -
Bile duct dilatation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/235570008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">235570008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1879273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1879273</a>, <a href="https://bioportal.bioontology.org/search?q=C0400751&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0400751</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spleen </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Splenomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16294009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16294009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038002</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span><br /> -
Asplenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1003551006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1003551006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/702624008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">702624008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/707147002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">707147002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/93030006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">93030006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q89.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q89.01</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5779621&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5779621</a>, <a href="https://bioportal.bioontology.org/search?q=C0600031&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0600031</a>, <a href="https://bioportal.bioontology.org/search?q=C5574735&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5574735</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001746" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001746</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001746" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001746</a>]</span><br /> -
Accessory spleen <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/10362008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">10362008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266631&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266631</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001747" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001747</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001747" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001747</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Single umbilical artery <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204470001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204470001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q27.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q27.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1384670&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1384670</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001195" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001195</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001195" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001195</a>]</span><br /> -
Omphalocele <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18735004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18735004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q79.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q79.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/756.72" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">756.72</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0795690&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0795690</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001539" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001539</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001539" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001539</a>]</span><br /> -
Intestinal malrotation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48641006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48641006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29980002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29980002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253789002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253789002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221210&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221210</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002566" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002566</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002566" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002566</a>]</span><br /> -
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 />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small genitalia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855333&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855333</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003241" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003241</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003241" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003241</a>]</span><br /> -
Ambiguous genitalia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/21321009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">21321009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q56.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q56.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000062" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000062</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000062" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000062</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> External Genitalia (Female) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small genitalia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855333&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855333</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003241" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003241</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003241" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003241</a>]</span><br /> -
Ambiguous genitalia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/21321009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">21321009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q56.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q56.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000062" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000062</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000062" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000062</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Internal Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cryptorchidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204878001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204878001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q53.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q53.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010417</a>, <a href="https://bioportal.bioontology.org/search?q=C5441920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441920</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Internal Genitalia (Female) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Separated vagina <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855334&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855334</a>]</span><br /> -
Uterine abnormalities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37849005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37849005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266383&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266383</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000130" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000130</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000130" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000130</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Polycystic kidneys <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/82525005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">82525005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q61.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q61.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/753.12" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">753.12</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1567435&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1567435</a>, <a href="https://bioportal.bioontology.org/search?q=C0022680&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022680</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000113" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000113</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000113" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000113</a>]</span><br /> -
Renal agenesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41962002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41962002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204942005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204942005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204938007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204938007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q60.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q60.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q60</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q60.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q60.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/753.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">753.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0542519&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0542519</a>, <a href="https://bioportal.bioontology.org/search?q=C1619700&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1619700</a>, <a href="https://bioportal.bioontology.org/search?q=C1609433&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1609433</a>, <a href="https://bioportal.bioontology.org/search?q=C0158699&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158699</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000110" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000110</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000104" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000104</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0010958" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010958</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000104" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000104</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ureters </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Duplicated ureters <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49496001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49496001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q62.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q62.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221365&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221365</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000073" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000073</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Bladder </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypoplastic bladder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855335&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855335</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005343" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005343</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005343" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005343</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Bowed long bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855340&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855340</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006487</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006487</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Postaxial polydactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0220697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220697</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</a>]</span><br /> -
Syndactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/373413006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">373413006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2117411&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2117411</a>, <a href="https://bioportal.bioontology.org/search?q=C0039075&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039075</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Foot,Osseous_Syndactyly_of-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Clinodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17268007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17268007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551485</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Clinodactyly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Talipes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398309008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398309008</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.70</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1301937&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1301937</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001883" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001883</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001883" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001883</a>]</span><br /> -
Polydactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/367506006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">367506006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q69.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q69.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q69" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q69</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/755.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152427&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152427</a>, <a href="https://bioportal.bioontology.org/search?q=C2117329&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2117329</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010442</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010442</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">
- Arnold-Chiari malformation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253184003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253184003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q07.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q07.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003803&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003803</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002308" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002308</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002308" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002308</a>]</span><br /> -
Occipital encephalocele <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42376006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42376006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q01.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q01.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014067&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014067</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002085" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002085</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002085" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002085</a>]</span><br /> -
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 /> -
Dandy-Walker malformation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14447001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14447001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q03.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q03.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010964&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010964</a>, <a href="https://bioportal.bioontology.org/search?q=C2931867&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2931867</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001305</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001305</a>]</span><br /> -
Cerebral hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855330&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855330</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006872" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006872</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006872" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006872</a>]</span><br /> -
Cerebellar hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16026008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16026008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266470&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266470</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001321</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001321</a>]</span><br /> -
Olfactory lobe absence <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855331&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855331</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001341" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001341</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001341" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001341</a>]</span><br /> -
Anencephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/609417004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">609417004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/89369001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">89369001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q00.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q00.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/740.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">740.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2021655&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2021655</a>, <a href="https://bioportal.bioontology.org/search?q=C0002902&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002902</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002323" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002323</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002323" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002323</a>]</span><br /> -
Absence of 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 /> -
Optic tract agenesis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855332&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855332</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ENDOCRINE FEATURES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Adrenal hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846223&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846223</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000835" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000835</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000835" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000835</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> PRENATAL MANIFESTATIONS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Amniotic Fluid </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Oligohydramnios <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59566000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59566000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/O41.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O41.00</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/O41.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O41.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/658.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">658.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0079924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0079924</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001562" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001562</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001562" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001562</a>]</span><br /> -
Elevated amniotic alpha-fetoprotein in affected fetuses with encephalocele <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855337&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855337</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Placenta & Umbilical Cord </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Placental enlargement <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0566693&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0566693</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006267" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006267</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006267" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006267</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Delivery </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Breech presentation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249101006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249101006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6096002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6096002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0006157&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0006157</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001623" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001623</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001623" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001623</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Perinatal death <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/10588007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">10588007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0701826&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0701826</a>]</span><br /> -
Prenatal diagnosis by ultrasound <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855343&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855343</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the MKS1 transition zone complex subunit 1 gene (MKS1, <a href="/entry/609883#0001">609883.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Meckel syndrome
- <a href="/phenotypicSeries/PS249000">PS249000</a>
- 16 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1552?start=-3&limit=10&highlight=1552"> 1q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616258"> ?Meckel syndrome 12 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
<a href="/entry/616258"> 616258 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611279"> KIF14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611279"> 611279 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/689?start=-3&limit=10&highlight=689"> 3q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/267010"> Meckel syndrome 7 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
<a href="/entry/267010"> 267010 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608002"> NPHP3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608002"> 608002 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/106?start=-3&limit=10&highlight=106"> 4p15.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612284"> Meckel syndrome 6 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
<a href="/entry/612284"> 612284 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612013"> CC2D2A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612013"> 612013 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/475?start=-3&limit=10&highlight=475"> 5q31.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619879"> Meckel syndrome 14 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
<a href="/entry/619879"> 619879 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617778"> TXNDC15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617778"> 617778 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/405?start=-3&limit=10&highlight=405"> 8q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607361"> Meckel syndrome 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
<a href="/entry/607361"> 607361 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609884"> TMEM67 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609884"> 609884 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/455?start=-3&limit=10&highlight=455"> 11q12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603194"> Meckel syndrome 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
<a href="/entry/603194"> 603194 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613277"> TMEM216 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613277"> 613277 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/664?start=-3&limit=10&highlight=664"> 12q21.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611134"> Meckel syndrome 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
<a href="/entry/611134"> 611134 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610142"> CEP290 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610142"> 610142 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/934?start=-3&limit=10&highlight=934"> 12q24.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613885"> ?Meckel syndrome 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
<a href="/entry/613885"> 613885 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613846"> TCTN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613846"> 613846 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/436?start=-3&limit=10&highlight=436"> 16q12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611561"> Meckel syndrome 5 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
<a href="/entry/611561"> 611561 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610937"> RPGRIP1L </a>
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<a href="/entry/610937"> 610937 </a>
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<a href="/entry/615397"> Meckel syndrome 11 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/615397"> 615397 </a>
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<a href="/entry/614949"> TMEM231 </a>
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<a href="/entry/614949"> 614949 </a>
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<a href="/entry/617562"> Meckel syndrome 13 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<a href="/entry/617562"> 617562 </a>
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<a href="/entry/616183"> TMEM107 </a>
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<span class="mim-font">
<a href="/entry/616183"> 616183 </a>
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<a href="/geneMap/17/198?start=-3&limit=10&highlight=198"> 17p13.1 </a>
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<span class="mim-font">
<a href="/entry/617562"> ?Joubert syndrome 29 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/617562"> 617562 </a>
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<a href="/entry/616183"> TMEM107 </a>
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<span class="mim-font">
<a href="/entry/616183"> 616183 </a>
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<a href="/geneMap/17/294?start=-3&limit=10&highlight=294"> 17p11.2 </a>
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<span class="mim-font">
<a href="/entry/614209"> ?Meckel syndrome 9 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<a href="/entry/614209"> 614209 </a>
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<a href="/entry/614144"> B9D1 </a>
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<span class="mim-font">
<a href="/entry/614144"> 614144 </a>
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<a href="/geneMap/17/781?start=-3&limit=10&highlight=781"> 17q22 </a>
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<span class="mim-font">
<a href="/entry/249000"> Meckel syndrome 1 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<a href="/entry/249000"> 249000 </a>
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<span class="mim-font">
<a href="/entry/609883"> MKS1 </a>
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<span class="mim-font">
<a href="/entry/609883"> 609883 </a>
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<a href="/geneMap/19/727?start=-3&limit=10&highlight=727"> 19q13.2 </a>
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<span class="mim-font">
<a href="/entry/614175"> Joubert syndrome 34 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/614175"> 614175 </a>
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<span class="mim-font">
<a href="/entry/611951"> B9D2 </a>
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<span class="mim-font">
<a href="/entry/611951"> 611951 </a>
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<span class="mim-font">
<a href="/geneMap/19/727?start=-3&limit=10&highlight=727"> 19q13.2 </a>
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<span class="mim-font">
<a href="/entry/614175"> ?Meckel syndrome 10 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/614175"> 614175 </a>
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<a href="/entry/611951"> B9D2 </a>
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<span class="mim-font">
<a href="/entry/611951"> 611951 </a>
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<p>A number sign (#) is used with this entry because of evidence that Meckel syndrome type 1 (MKS1) is caused by homozygous or compound heterozygous mutation in a gene encoding a component of the flagellar apparatus basal body proteome (MKS1; <a href="/entry/609883">609883</a>) on chromosome 17q22.</p>
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<strong>Description</strong>
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<p>Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of <a href="#37" class="mim-tip-reference" title="Opitz, J. M., Howe, J. J. &lt;strong&gt;The Meckel syndrome (dysencephalia splanchnocystica, the Gruber syndrome).&lt;/strong&gt; Birth Defects Orig. Art. Ser. 5: 167-179, 1969."None>Opitz and Howe (1969)</a> and <a href="#64" class="mim-tip-reference" title="Wright, C., Healicon, R., English, C., Burn, J. &lt;strong&gt;Meckel syndrome: what are the minimum diagnostic criteria?&lt;/strong&gt; J. Med. Genet. 31: 482-485, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8071976/&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;8071976&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.31.6.482&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="8071976">Wright et al. (1994)</a>, stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, <a href="#47" class="mim-tip-reference" title="Salonen, R. &lt;strong&gt;The Meckel syndrome: clinicopathological findings in 67 patients.&lt;/strong&gt; Am. J. Med. Genet. 18: 671-689, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6486167/&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;6486167&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320180414&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="6486167">Salonen (1984)</a> concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, <a href="#28" class="mim-tip-reference" title="Logan, C. V., Abdel-Hamed, Z., Johnson, C. A. &lt;strong&gt;Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects.&lt;/strong&gt; Molec. Neurobiol. 43: 12-26, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21110233/&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;21110233&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s12035-010-8154-0&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="21110233">Logan et al. (2011)</a> stated that the classic triad first described by <a href="#32" class="mim-tip-reference" title="Meckel, J. F. &lt;strong&gt;Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister.&lt;/strong&gt; Dtsch. Arch. Physiol. 7: 99-172, 1822."None>Meckel (1822)</a> included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6486167+8071976+21110233" 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>Genetic Heterogeneity of Meckel Syndrome</em></strong></p><p>
See also MKS2 (<a href="/entry/603194">603194</a>), caused by mutation in the TMEM216 gene (<a href="/entry/613277">613277</a>) on chromosome 11q12; MKS3 (<a href="/entry/607361">607361</a>), caused by mutation in the TMEM67 gene (<a href="/entry/609884">609884</a>) on chromosome 8q; MKS4 (<a href="/entry/611134">611134</a>), caused by mutation in the CEP290 gene (<a href="/entry/610142">610142</a>) on chromosome 12q; MKS5 (<a href="/entry/611561">611561</a>), caused by mutation in the RPGRIP1L gene (<a href="/entry/610937">610937</a>) on chromosome 16q12; MKS6 (<a href="/entry/612284">612284</a>), caused by mutation in the CC2D2A gene (<a href="/entry/612013">612013</a>) on chromosome 4p15; MKS7 (<a href="/entry/267010">267010</a>), caused by mutation in the NPHP3 (<a href="/entry/608002">608002</a>) gene on chromosome 3q22; MKS8 (<a href="/entry/613885">613885</a>), caused by mutation in the TCTN2 gene (<a href="/entry/613846">613846</a>) on chromosome 12q24; MKS9 (<a href="/entry/614209">614209</a>), caused by mutation in the B9D1 gene (<a href="/entry/614144">614144</a>) on chromosome 17p11; MKS10 (<a href="/entry/614175">614175</a>), caused by mutation in the B9D2 gene (<a href="/entry/611951">611951</a>) on chromosome 19q13; MKS11 (<a href="/entry/615397">615397</a>), caused by mutation in the TMEM231 gene (<a href="/entry/614949">614949</a>) on chromosome 16q23; MKS12 (<a href="/entry/616258">616258</a>), caused by mutation in the KIF14 gene (<a href="/entry/611279">611279</a>) on chromosome 1q32; MKS13 (<a href="/entry/617562">617562</a>), caused by mutation in the TMEM107 gene (<a href="/entry/616183">616183</a>) on chromosome 17p13; and MKS14 (<a href="/entry/619879">619879</a>), caused by mutation in the TXNDC15 gene (<a href="/entry/617778">617778</a>) on chromosome 5q31.</p>
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<p>A great variety of malformations have been observed in Meckel syndrome. A frequent and particularly memorable combination is sloping forehead, posterior encephalocele, polydactyly, and polycystic kidneys. <a href="#13" class="mim-tip-reference" title="Fraser, F. C., Lytwyn, A. &lt;strong&gt;Spectrum of anomalies in the Meckel syndrome, or: &#x27;Maybe there is a malformation syndrome with at least one constant anomaly&#x27;.&lt;/strong&gt; Am. J. Med. Genet. 9: 67-73, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7246621/&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;7246621&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320090112&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="7246621">Fraser and Lytwyn (1981)</a> concluded that cystic dysplasia of the kidneys is an obligate feature. <a href="#30" class="mim-tip-reference" title="Majewski, F., Stoss, H., Goecke, T., Kemperdick, H. &lt;strong&gt;Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome?&lt;/strong&gt; Hum. Genet. 65: 125-133, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6654326/&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;6654326&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00286648&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="6654326">Majewski et al. (1983)</a> concluded that sometimes the polydactyly in Meckel syndrome is preaxial and that bowing of the long bones of the limbs occurs in about one-sixth of cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6654326+7246621" 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="#43" class="mim-tip-reference" title="Pettersen, J. C. &lt;strong&gt;Gross anatomical studies of a newborn infant with the Meckel syndrome.&lt;/strong&gt; Am. J. Med. Genet. 18: 649-659, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6486165/&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;6486165&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320180412&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="6486165">Pettersen (1984)</a> described the gross anatomic changes of a newborn infant with the Meckel syndrome and noted differences from trisomy 13. <a href="#47" class="mim-tip-reference" title="Salonen, R. &lt;strong&gt;The Meckel syndrome: clinicopathological findings in 67 patients.&lt;/strong&gt; Am. J. Med. Genet. 18: 671-689, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6486167/&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;6486167&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320180414&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="6486167">Salonen (1984)</a> reviewed the clinicopathologic findings in 67 cases in Finland, where the disorder is also unusually frequent. She proposed that cystic dysplasia of the kidneys with fibrotic changes in the liver and occipital encephalocele or some other central nervous system malformation are minimum diagnostic criteria. In a review of the pathologic findings in 9 cases, <a href="#4" class="mim-tip-reference" title="Blankenberg, T. A., Ruebner, B. H., Ellis, W. G., Bernstein, J., Dimmick, J. E. &lt;strong&gt;Pathology of renal and hepatic anomalies in Meckel syndrome.&lt;/strong&gt; Am. J. Med. Genet. Suppl. 3: 395-410, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3130875/&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;3130875&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320280546&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="3130875">Blankenberg et al. (1987)</a> concluded that a hepatic lesion is a consistent feature: arrested development of the intrahepatic biliary system at the stage of biliary cylinders with varying degrees of reactive bile duct proliferation, bile duct dilatation, portal fibrosis, and portal fibrous vascular obliteration. Death occurs in the perinatal period. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6486167+6486165+3130875" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Herriot, R., Hallam, L. A., Gray, E. S. &lt;strong&gt;Dandy-Walker malformation in the Meckel syndrome.&lt;/strong&gt; Am. J. Med. Genet. 39: 207-210, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2063927/&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;2063927&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320390218&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="2063927">Herriot et al. (1991)</a> described 2 sibs and another unrelated infant with Meckel syndrome in which the CNS anomaly was Dandy-Walker malformation (<a href="/entry/220200">220200</a>). Meckel syndrome type 7 (MKS7) has Dandy-Walker malformation as a more consistent feature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2063927" 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="#62" class="mim-tip-reference" title="Walpole, I. R., Goldblatt, J., Hockey, A., Knowles, S. &lt;strong&gt;Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome?&lt;/strong&gt; Am. J. Med. Genet. 39: 294-298, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1867280/&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;1867280&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320390310&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="1867280">Walpole et al. (1991)</a> described a family in which 3 nonviable brothers had a variant of Dandy-Walker malformation associated with enlarged cystic dysplastic kidneys and hepatic fibrosis. The presence of these abnormalities in all 3 sibs in the absence of polydactyly and encephalocele suggested that this is a distinct syndrome, but its distinctness from the Meckel syndrome was by no means certain. <a href="#9" class="mim-tip-reference" title="Di Rocco, M. &lt;strong&gt;On Saraiva and Baraitser and Joubert syndrome: a review. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 46: 732, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8362922/&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;8362922&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320460630&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="8362922">Di Rocco (1993)</a> suggested that the diagnosis in this case might be carbohydrate-deficient glycoprotein syndrome (CDG; <a href="/entry/212065">212065</a>); she proposed that CDG syndrome should be considered in any patient with cerebellar dysplasia and renal or liver abnormalities. <a href="#57" class="mim-tip-reference" title="Summers, M. C., Donnenfeld, A. E. &lt;strong&gt;Dandy-Walker malformation in the Meckel syndrome.&lt;/strong&gt; Am. J. Med. Genet. 55: 57-61, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7702098/&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;7702098&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320550116&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="7702098">Summers and Donnenfeld (1995)</a> described 3 sibs with varying manifestations of Meckel syndrome. The propositus had isolated cystic renal disease. In both of the other sibs, a prenatal diagnosis was made of renal disease, polydactyly, and Dandy-Walker malformation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7702098+1867280+8362922" 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="Al-Gazali, L. I., Abdel Raziq, A., Al-Shather, W., Shahzadi, R., Azhar, N. &lt;strong&gt;Meckel syndrome and Dandy Walker malformation.&lt;/strong&gt; Clin. Dysmorph. 5: 73-76, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8867663/&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;8867663&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00019605-199601000-00011&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="8867663">Al-Gazali et al. (1996)</a> described an infant with occipital encephalocele, cystic kidneys, and postaxial polydactyly, who also manifested Dandy-Walker malformation. <a href="#2" class="mim-tip-reference" title="Al-Gazali, L. I., Abdel Raziq, A., Al-Shather, W., Shahzadi, R., Azhar, N. &lt;strong&gt;Meckel syndrome and Dandy Walker malformation.&lt;/strong&gt; Clin. Dysmorph. 5: 73-76, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8867663/&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;8867663&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00019605-199601000-00011&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="8867663">Al-Gazali et al. (1996)</a> suggested that Dandy-Walker malformation should be added to the list of brain defects in Meckel syndrome. <a href="#5" class="mim-tip-reference" title="Castilla, E. E., Lugarinho, R., de Garcia Dutra, M., Salgado, L. J. &lt;strong&gt;Associated anomalies in individuals with polydactyly.&lt;/strong&gt; Am. J. Med. Genet. 80: 459-465, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9880209/&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;9880209&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19981228)80:5&lt;459::aid-ajmg5&gt;3.0.co;2-g&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="9880209">Castilla et al. (1998)</a> performed an epidemiologic analysis of the association of polydactyly with other congenital anomalies in 5,927 consecutively born polydactyly cases. Trisomy 13, Meckel syndrome, and Down syndrome (<a href="/entry/190685">190685</a>) explained 255 of the 338 syndromic polydactyly cases. Down syndrome was strongly associated with first-digit duplication, and negatively associated with postaxial polydactyly. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9880209+8867663" 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>Clinical Variability</em></strong></p><p>
<a href="#51" class="mim-tip-reference" title="Seller, M. J. &lt;strong&gt;Phenotypic variation in Meckel syndrome.&lt;/strong&gt; Clin. Genet. 20: 74-77, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7296953/&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;7296953&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1981.tb01811.x&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="7296953">Seller (1981)</a> collated information on phenotypic variability in Meckel syndrome in the published cases: 57% had all 3 major features, which she defined as encephalocele, polycystic kidneys, and polydactyly; 16% had the 2 features found in her 4 cases, i.e., encephalocele and polycystic kidneys; in 9 of 17 families with more than 1 affected sib, manifestation was the same in the affected persons, and in the only other 2 families with 4 affected sibs, expression varied among the sibs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7296953" 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="#55" class="mim-tip-reference" title="Simpson, J. L., Mills, J., Rhoads, G. G., Cunningham, G. C., Conley, M. R., Hoffman, H. J. &lt;strong&gt;Genetic heterogeneity in neural tube defects.&lt;/strong&gt; Ann. Genet. 34: 279-286, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1809238/&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;1809238&lt;/a&gt;]" pmid="1809238">Simpson et al. (1991)</a> reported on a study in which all cases of confirmed neural tube defects (NTD) in the states of California and Illinois in the years 1985-1987, including liveborn infants as well as cases ascertained during pregnancy, were identified with as complete ascertainment as possible. Mothers were interviewed within 5 months. Among postnatal NTD cases, 14.9% (45/303) had additional anomalies. The frequency of non-NTD-related anomalies was 22.9% (8/35) in encephalocele. The Meckel-Gruber syndrome was the most frequently identified specific syndrome. The high frequency of associated malformations suggested to <a href="#55" class="mim-tip-reference" title="Simpson, J. L., Mills, J., Rhoads, G. G., Cunningham, G. C., Conley, M. R., Hoffman, H. J. &lt;strong&gt;Genetic heterogeneity in neural tube defects.&lt;/strong&gt; Ann. Genet. 34: 279-286, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1809238/&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;1809238&lt;/a&gt;]" pmid="1809238">Simpson et al. (1991)</a> that caution must be exercised before assuming that a given case is polygenic-multifactorial in etiology, especially in cases of encephalocele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1809238" 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="#64" class="mim-tip-reference" title="Wright, C., Healicon, R., English, C., Burn, J. &lt;strong&gt;Meckel syndrome: what are the minimum diagnostic criteria?&lt;/strong&gt; J. Med. Genet. 31: 482-485, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8071976/&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;8071976&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.31.6.482&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="8071976">Wright et al. (1994)</a> described 2 sibs, the first of whom presented the classic Meckel syndrome triad, which they defined as encephalocele, postaxial polydactyly, and characteristic cystic changes in the kidney. The second sib showed none of these abnormalities but did show urethral atresia and preaxial polydactyly, 2 features previously described in some patients with Meckel syndrome. For example, 4 of the cases reviewed by <a href="#47" class="mim-tip-reference" title="Salonen, R. &lt;strong&gt;The Meckel syndrome: clinicopathological findings in 67 patients.&lt;/strong&gt; Am. J. Med. Genet. 18: 671-689, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6486167/&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;6486167&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320180414&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="6486167">Salonen (1984)</a> had urethral atresia. The second sib showed features overlapping those of the entity reported as distal obstructive uropathy with polydactyly by <a href="#20" class="mim-tip-reference" title="Halal, F. &lt;strong&gt;Distal obstructive uropathy with polydactyly: a new syndrome? (Letter)&lt;/strong&gt; Am. J. Med. Genet. 24: 753-757, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3740105/&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;3740105&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320240419&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="3740105">Halal (1986)</a>; 2 unrelated stillborn infants had hydronephrosis, hydroureter, and bladder dilatation secondary to urethral obstruction, together with postaxial polydactyly. The 2 sibs illustrated the wide phenotypic spectrum of Meckel syndrome and the difficulty of defining minimum diagnostic criteria. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6486167+8071976+3740105" 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="#34" class="mim-tip-reference" title="Nelson, J., Nevin, N. C., Hanna, E. J. &lt;strong&gt;Polydactyly in a carrier of the gene for the Meckel syndrome.&lt;/strong&gt; Am. J. Med. Genet. 53: 207-209, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7856653/&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;7856653&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320530302&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="7856653">Nelson et al. (1994)</a> described 3 brothers with Meckel syndrome whose father and his female paternal first cousin had postaxial polydactyly of both feet. They suggested that this represented a mild manifestation of the heterozygous carrier state. They referred to the report of <a href="#12" class="mim-tip-reference" title="Fitch, N., Pinsky, L. &lt;strong&gt;The Meckel syndrome with limited expression in relatives.&lt;/strong&gt; Clin. Genet. 4: 33-37, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4632429/&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;4632429&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1973.tb01119.x&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="4632429">Fitch and Pinsky (1973)</a> who observed a family with postaxial polydactyly along with other possibly heterozygous manifestations. <a href="#19" class="mim-tip-reference" title="Gulati, R., Phadke, S. R., Agarwal, S. S. &lt;strong&gt;Associated malformations in the family of a patient with Meckel syndrome: heterozygous expression?&lt;/strong&gt; J. Med. Genet. 34: 937-938, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9391891/&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;9391891&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.34.11.937&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="9391891">Gulati et al. (1997)</a> reported a family in which 4 individuals had minor malformations related to Meckel syndrome. A sib of the proband had cleft lip and palate, a first cousin of the father had preaxial polydactyly, and her daughter had cleft lip. A second cousin of the mother had syndactyly of all 5 toes of the left foot. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7856653+4632429+9391891" 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 clinical delineation of MKS had long been confusing, and many authors, e.g., <a href="#31" class="mim-tip-reference" title="Mecke, S., Passarge, E. &lt;strong&gt;Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome.&lt;/strong&gt; Ann. Genet. 14: 97-103, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4997715/&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;4997715&lt;/a&gt;]" pmid="4997715">Mecke and Passarge (1971)</a>, <a href="#23" class="mim-tip-reference" title="Hunter, A. G., Jimenez, C., Tawagi, F. G. &lt;strong&gt;Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome?&lt;/strong&gt; Am. J. Med. Genet. 41: 201-207, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1785635/&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;1785635&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320410214&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="1785635">Hunter et al. (1991)</a>, and <a href="#16" class="mim-tip-reference" title="Genuardi, M., Dionisi-Vici, C., Sabetta, G., Mignozzi, M., Rizzoni, G., Cotugno, G., Martini Neri, M. E. &lt;strong&gt;Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly.&lt;/strong&gt; Am. J. Med. Genet. 47: 50-53, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8368252/&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;8368252&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320470111&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="8368252">Genuardi et al. (1993)</a>, had called attention to the number of ambiguous and overlapping syndromes that might be included under the general heading of cerebroacrovisceral (CAVE) multiplex syndrome, a designation introduced by <a href="#60" class="mim-tip-reference" title="Verloes, A., Gillerot, Y., Langhendries, J.-P., Fryns, J.-P., Koulischer, L. &lt;strong&gt;Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome.&lt;/strong&gt; Am. J. Med. Genet. 43: 669-677, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1621756/&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;1621756&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430404&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="1621756">Verloes et al. (1992)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8368252+4997715+1621756+1785635" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</div>
<div>
<a id="diagnosis" class="mim-anchor"></a>
<h4 href="#mimDiagnosisFold" id="mimDiagnosisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDiagnosisToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>Diagnosis</strong>
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<p><strong><em>Prenatal Diagnosis</em></strong></p><p>
In a pregnancy at risk, <a href="#42" class="mim-tip-reference" title="Pachi, A., Giancotti, A., Torcia, F., de Prosperi, V., Maggi, E. &lt;strong&gt;Meckel-Gruber syndrome: ultrasonographic diagnosis at 13 weeks&#x27; gestational age in an at-risk case.&lt;/strong&gt; Prenatal Diag. 9: 187-190, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2652130/&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;2652130&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/pd.1970090307&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="2652130">Pachi et al. (1989)</a> made the prenatal diagnosis by finding at 10 weeks' gestation an abnormal anechoic cystic intracranial image, and at 13 weeks' gestation a skull defect in the occipital area through which part of the brain and meninges protruded into the amniotic cavity as well as abnormally enlarged kidneys. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2652130" 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="Karmous-Benailly, H., Martinovic, J., Gubler, M.-C., Sirot, Y., Clech, L., Ozilou, C., Auge, J., Brahimi, N., Etchevers, H., Detrait, E., Esculpavit, C., Audollent, S., and 17 others. &lt;strong&gt;Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 76: 493-504, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15666242/&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;15666242&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=15666242[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/428679&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="15666242">Karmous-Benailly et al. (2005)</a> speculated that fetuses with an antenatal diagnosis of Meckel or 'Meckel-like' syndrome (see <a href="/entry/208540">208540</a>), because of the presence of cystic kidneys and polydactyly and/or hepatic fibrosis but no encephalocele, might be instances of Bardet-Biedl syndrome (BBS; <a href="/entry/209900">209900</a>). They sequenced the 8 BBS genes in a series of 13 such cases. In 6, they identified a recessive mutation in a BBS gene: 3 in BBS2 (<a href="/entry/606151">606151</a>), 2 in BBS4 (<a href="/entry/600374">600374</a>), and 1 in BBS6 (<a href="/entry/604896">604896</a>). In addition to these homozygous mutations, they found a heterozygous BBS6 mutation in 3 additional cases. In their series there were no mutations found in BBS1, BBS3 (ARL6; <a href="/entry/608845">608845</a>), BBS5, BBS7, or BBS8. The results indicated that the antenatal presentation of BBS may mimic Meckel syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15666242" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</div>
</div>
<div>
<a id="inheritance" class="mim-anchor"></a>
<h4 href="#mimInheritanceFold" id="mimInheritanceToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimInheritanceToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Inheritance</strong>
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</h4>
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<div id="mimInheritanceFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>Numerous examples of affected sibs, concordance in presumedly monozygotic twins (<a href="#56" class="mim-tip-reference" title="Stockard, C. R. &lt;strong&gt;Developmental rate and structural expression: an experimental study of twins, &#x27;double monsters&#x27; and single deformities, and the interaction among embryonic organs during their origin and development.&lt;/strong&gt; Am. J. Anat. 28: 115-277, 1921."None>Stockard, 1921</a>), roughly equal occurrence in males and females, and parental consanguinity in some instances (<a href="#58" class="mim-tip-reference" title="Tucker, C. C., Finley, S. C., Tucker, E. S., Finley, W. H. &lt;strong&gt;Oral-facial-digital syndrome, with polycystic kidneys and liver: pathological and cytogenetic studies.&lt;/strong&gt; J. Med. Genet. 3: 145-147, 1966.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5963210/&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;5963210&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.3.2.145&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="5963210">Tucker et al., 1966</a>; <a href="#61" class="mim-tip-reference" title="Walbaum, R., Dehaene, P., Duthoit, F. &lt;strong&gt;Polydactylie familiale avec dysplasie neuro-cranienne.&lt;/strong&gt; Ann. Genet. 10: 39-41, 1967.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5300125/&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;5300125&lt;/a&gt;]" pmid="5300125">Walbaum et al., 1967</a>) make autosomal recessive inheritance quite certain. <a href="#54" class="mim-tip-reference" title="Simopoulos, A. P., Brennan, G. G., Alwan, A., Fidis, N. &lt;strong&gt;Polycystic kidneys, internal hydrocephalus and polydactylism in newborn siblings.&lt;/strong&gt; Pediatrics 39: 931-934, 1967.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6067404/&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;6067404&lt;/a&gt;]" pmid="6067404">Simopoulos et al. (1967)</a> described 3 male sibs with polycystic kidneys, internal hydrocephalus, and postaxial polydactyly. The parents were not related. <a href="#22" class="mim-tip-reference" title="Hsia, Y. E., Bratu, M., Herbordt, A. &lt;strong&gt;Genetics of the Meckel syndrome (dysencephalia splanchnocystica).&lt;/strong&gt; Pediatrics 48: 237-247, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4997860/&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;4997860&lt;/a&gt;]" pmid="4997860">Hsia et al. (1971)</a> described 7 cases in 2 sibships: 2 sets of monozygotic twins in one and 3 sibs in another. Although many of the features suggest trisomy 13, occipital encephalocele has apparently never been observed in the chromosomal aberration. <a href="#31" class="mim-tip-reference" title="Mecke, S., Passarge, E. &lt;strong&gt;Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome.&lt;/strong&gt; Ann. Genet. 14: 97-103, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4997715/&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;4997715&lt;/a&gt;]" pmid="4997715">Mecke and Passarge (1971)</a> reported 2 affected sisters. <a href="#51" class="mim-tip-reference" title="Seller, M. J. &lt;strong&gt;Phenotypic variation in Meckel syndrome.&lt;/strong&gt; Clin. Genet. 20: 74-77, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7296953/&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;7296953&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1981.tb01811.x&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="7296953">Seller (1981)</a> described a family with 4 affected sibs. Each manifested only 2 of the 3 cardinal signs; all had encephalocele and polycystic kidneys, but none had polydactyly. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4997715+5963210+7296953+6067404+5300125+4997860" 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="#46" class="mim-tip-reference" title="Salonen, R., Norio, R. &lt;strong&gt;The Meckel syndrome in Finland: epidemiologic and genetic aspects.&lt;/strong&gt; Am. J. Med. Genet. 18: 691-698, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6486168/&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;6486168&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320180415&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="6486168">Salonen and Norio (1984)</a> found good support for autosomal recessive inheritance; the proportion of affected sibs, corrected for truncate complete ascertainment, was 0.261. No parental consanguinity was found among the Finnish cases, a finding not surprising because of the high frequency of the gene in Finland, the generally low frequency of close marriage in that country and the fact that ancestry was not traced back far enough to find remote consanguinity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6486168" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Farag, T. I., Usha, R., Uma, R., Mady, S. A., Al-Nagdy, K., El-Badramany, M. H. &lt;strong&gt;Phenotypic variability in Meckel-Gruber syndrome.&lt;/strong&gt; Clin. Genet. 38: 176-179, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2225527/&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;2225527&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1990.tb03568.x&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="2225527">Farag et al. (1990)</a> described the Meckel syndrome in 5 sibs of a Bedouin family, each of whom had occipital encephalocele and polycystic kidneys but lacked polydactyly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2225527" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</div>
</div>
<div>
<a id="mapping" class="mim-anchor"></a>
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<div id="mimMappingFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#41" class="mim-tip-reference" title="Paavola, P., Salonen, R., Weissenbach, J., Peltonen, L. &lt;strong&gt;The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.&lt;/strong&gt; Nature Genet. 11: 213-215, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7550354/&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;7550354&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1095-213&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="7550354">Paavola et al. (1995)</a> mapped the MES locus to 17q21-q24 in a 13-cM region using microsatellite DNA markers. <a href="#41" class="mim-tip-reference" title="Paavola, P., Salonen, R., Weissenbach, J., Peltonen, L. &lt;strong&gt;The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.&lt;/strong&gt; Nature Genet. 11: 213-215, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7550354/&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;7550354&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1095-213&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="7550354">Paavola et al. (1995)</a> found no obligatory recombination between MES and the growth hormone gene (<a href="/entry/139250">139250</a>). The HOXB gene cluster (e.g., <a href="/entry/142968">142968</a>) is located nearby at 17q21-q22 and abnormalities of some of the Hoxb genes in mice lead to multiple malformations bearing some parallels to the MES phenotype. However, <a href="#41" class="mim-tip-reference" title="Paavola, P., Salonen, R., Weissenbach, J., Peltonen, L. &lt;strong&gt;The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.&lt;/strong&gt; Nature Genet. 11: 213-215, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7550354/&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;7550354&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1095-213&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="7550354">Paavola et al. (1995)</a> found obligatory recombinants between the HOXB6 (<a href="/entry/142961">142961</a>) locus and MES. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7550354" 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="#39" class="mim-tip-reference" title="Paavola, P., Avela, K., Horelli-Kuitunen, N., Barlund, M., Kallioniemi, A., Idanheimo, N., Kyttala, M., de la Chapelle, A., Palotie, A., Lehesjoki, A.-E., Peltonen, L. &lt;strong&gt;High-resolution physical and genetic mapping of the critical region for Meckel syndrome and mulibrey nanism on chromosome 17q22-q23.&lt;/strong&gt; Genome Res. 9: 267-276, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10077533/&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;10077533&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=10077533[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;]" pmid="10077533">Paavola et al. (1999)</a> studied further the location of the genes for Meckel syndrome and mulibrey nanism (<a href="/entry/253250">253250</a>), which had been mapped to the same region, 17q21-q24. They constructed a bacterial clone contig over the critical region for both disorders. Several novel CA-repeat markers were isolated from these clones, which allowed refined mapping of the MKS and MUL loci using haplotype and linkage disequilibrium analysis. The localization of the MKS locus was narrowed and the entire MKS region was found to fall within the MUL region. However, in the common critical region, the conserved haplotypes were different in MKS and MUL patients. A transcript map was constructed by assigning ESTs and genes, derived from the human gene map, to the bacterial clone contig. Altogether, 4 genes and a total of 20 ESTs were precisely localized. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10077533" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="heterogeneity" class="mim-anchor"></a>
<h4 href="#mimHeterogeneityFold" id="mimHeterogeneityToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Heterogeneity</strong>
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<p><a href="#40" class="mim-tip-reference" title="Paavola, P., Salonen, R., Baumer, A., Schinzel, A., Boyd, P. A., Gould, S., Meusburger, H., Tenconi, R., Barnicoat, A., Winter, R., Peltonen, L. &lt;strong&gt;Clinical and genetic heterogeneity in Meckel syndrome.&lt;/strong&gt; Hum. Genet. 101: 88-92, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9385376/&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;9385376&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004390050592&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="9385376">Paavola et al. (1997)</a> demonstrated clinical and genetic heterogeneity in Meckel syndrome in studies of 1 Italian family, 1 Austrian family (of Turkish origin), and 3 British families (Caucasian, Pakistani, and Bangladeshi). They excluded cosegregation of the disease and marker haplotypes in the Austrian family and in the 3 British families, of which 2 represented classic Meckel syndrome and 1 a somewhat atypical Meckel syndrome phenotype with longer survival of the patient. In the Italian family, with 1 affected child, the affected and unaffected children did not share the same maternal chromosome and thus this family could represent the same allelic disease as the Finnish MKS families. The results suggested locus heterogeneity in Meckel syndrome, a feature previously suspected because of the highly variable clinical phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9385376" 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="#52" class="mim-tip-reference" title="Shaheen, R., Faqeih, E., Seidahmed, M. Z., Sunker, A., Alali, F. E., AlQahtani, K., Alkuraya, F. S. &lt;strong&gt;A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.&lt;/strong&gt; Hum. Mutat. 32: 573-578, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21462283/&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;21462283&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.21507&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="21462283">Shaheen et al. (2011)</a> identified 3 consanguineous Arab families with Meckel-Gruber syndrome. In 2 of these families, no mutation was identified. While the phenotype in 1 of these families mapped to the MKS3 locus (<a href="/entry/607361">607361</a>), no mutation was found in the TMEM67 gene (<a href="/entry/609884">609884</a>). In the other family, homozygosity scan confidently excluded all MKS loci known to that time, indicating that, since compound heterozygosity is unlikely to exist in the setting of first-cousin unions, 2 novel MKS loci are likely to exist in the study population. The remaining family carried a mutation in the TCTN2 gene (see <a href="/entry/613846#0001">613846.0001</a> and MKS8, <a href="/entry/613885">613885</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21462283" 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>Population Genetics</strong>
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<p>In Finland, <a href="#46" class="mim-tip-reference" title="Salonen, R., Norio, R. &lt;strong&gt;The Meckel syndrome in Finland: epidemiologic and genetic aspects.&lt;/strong&gt; Am. J. Med. Genet. 18: 691-698, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6486168/&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;6486168&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320180415&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="6486168">Salonen and Norio (1984)</a> found that Meckel syndrome has a birth prevalence of 1:9,000 and a disease gene frequency of 0.01, which is of the same order of magnitude as that of the most common recessive diseases belonging to the 'Finnish disease heritage,' that is, genetic disorders enriched or only encountered in Finland. However, in MES, comparable or even higher incidences are reported from other populations. <a href="#29" class="mim-tip-reference" title="Lurie, I. W., Prytkov, A. N., Meldere, L. V. &lt;strong&gt;Meckel syndrome in different populations.&lt;/strong&gt; Am. J. Med. Genet. 18: 661-669, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6486166/&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;6486166&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320180413&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="6486166">Lurie et al. (1984)</a> pointed to a relatively high frequency of the syndrome among Tatars in the Soviet Union. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6486168+6486166" 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="#3" class="mim-tip-reference" title="Auber, B., Burfeind, P., Herold, S., Schoner, K., Simson, G., Rauskolb, R., Rehder, H. &lt;strong&gt;A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome.&lt;/strong&gt; Clin. Genet. 72: 454-459, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17935508/&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;17935508&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2007.00880.x&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="17935508">Auber et al. (2007)</a> identified the 29-bp deletion in intron 15 of the MKS1 gene (<a href="/entry/609883#0001">609883.0001</a>) in 8 of 20 unrelated fetuses diagnosed clinically with MKS. Six cases, consisting of 1 heterozygous and 5 homozygous mutations, had the campomelic variant of the disorder. The carrier frequency of this mutation in the German population was determined to be 1 in 260, and the incidence of MKS was estimated at 1 in 135,000. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17935508" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Molecular Genetics</strong>
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<p><a href="#25" class="mim-tip-reference" title="Kyttala, M., Tallila, J., Salonen, R., Kopra, O., Kohlschmidt, N., Paavola-Sakki, P., Peltonen, L., Kestila, M. &lt;strong&gt;MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.&lt;/strong&gt; Nature Genet. 38: 155-157, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16415886/&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;16415886&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1714&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="16415886">Kyttala et al. (2006)</a> identified a gene, which they designated MKS1 (<a href="/entry/609883">609883</a>), that was mutated in Meckel syndrome families linked to 17q. Expression of the Mks1 gene in mouse embryos, as determined by in situ hybridization, agreed well with the tissue phenotype of Meckel syndrome. Comparative genomics and proteomics data implicated MKS1 in ciliary functions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16415886" 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="#7" class="mim-tip-reference" title="Consugar, M. B., Kubly, V. J., Lager, D. J., Hommerding, C. J., Wong, W. C., Bakker, E., Gattone, V. H., II, Torres, V. E., Breuning, M. H., Harris, P. C. &lt;strong&gt;Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.&lt;/strong&gt; Hum. Genet. 121: 591-599, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17377820/&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;17377820&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00439-007-0341-3&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="17377820">Consugar et al. (2007)</a> identified mutations in the MKS1 gene in affected individuals in 5 of 17 families with a clinical diagnosis of Meckel syndrome. All 5 families had the major Finnish deletion mutation (<a href="/entry/609883#0001">609883.0001</a>): 2 were homozygous, and 3 were compound heterozygous with another pathogenic MKS1 mutation (<a href="/entry/609883#0004">609883.0004</a> and <a href="/entry/609883#0005">609883.0005</a>). All cases with available data had polydactyly. Five of 17 families had mutations in the TMEM67 gene (<a href="/entry/609884">609884</a>) consistent with MKS3, and 7 families had no detectable mutation in either MKS1 or TMEM67, suggesting further genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17377820" 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>Associations Pending Confirmation</em></strong></p><p>
<a href="#53" class="mim-tip-reference" title="Shamseldin, H. E., Shaheen, R., Ewida, N., Bubshait, D. K., Alkuraya, H., Almardawi, E., Howaidi, A., Sabr, Y., Abdalla, E. M., Alfaifi, A. Y., Alghamdi, J. M., Alsagheir, A., and 29 others. &lt;strong&gt;The morbid genome of ciliopathies: an update.&lt;/strong&gt; Genet. Med. 22: 1051-1060, 2020. Note: Erratum: Genet. Med. 24: 966, 2022.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/32055034/&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;32055034&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/s41436-020-0761-1&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="32055034">Shamseldin et al. (2020)</a> performed genomic analysis in a cohort of 125 families with ciliopathies, and identified heterozygosity for a 1-bp deletion (c.2603delA) in the CEP295 gene (<a href="/entry/617728">617728</a>), causing a frameshift predicted to result in a premature termination codon (Gln868ArgfsTer25), in the parents of a fetus (15DG0637) diagnosed with Meckel-Gruber syndrome. Limited clinical information was provided, but the phenotype was tabulated as a stillbirth with encephalocele and dysplastic kidneys, but no polydactyly. The ACMG classification was tabulated as 'variant of unknown significance.' <a href="#27" class="mim-tip-reference" title="Li, N., Xu, Y., Chen, H., Lin, J., AlAbdi, L., Bekheirnia, M. R., Li, G., Gofin, Y., Bekheirnia, N., Faqeih, E., Chen, L., Chang, G., and 10 others. &lt;strong&gt;Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities.&lt;/strong&gt; EBioMedicine 99: 104940, 2024.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/38154379/&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;38154379&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=38154379[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ebiom.2023.104940&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="38154379">Li et al. (2024)</a> reviewed photographs of the affected fetus and observed a depressed nasal bridge, broad mouth, mild retrognathia, and brachydactyly, suggesting that the fetus had a syndromic disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=32055034+38154379" 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="#63" class="mim-tip-reference" title="Weatherbee, S. D., Niswander, L. A., Anderson, K. V. &lt;strong&gt;A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and hedgehog signaling.&lt;/strong&gt; Hum. Molec. Genet. 18: 4565-4575, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19776033/&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;19776033&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19776033[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddp422&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="19776033">Weatherbee et al. (2009)</a> showed that loss of function of mouse Mks1 resulted in an accurate model of Meckel syndrome, with structural abnormalities in the neural tube, biliary duct, limb patterning, bone development, and the kidney. In contrast to cell culture studies, loss of Mks1 in vivo did not interfere with apical localization of epithelial basal bodies, but rather led to defective cilia formation in most, but not all, tissues. Analysis of patterning in the neural tube and the limb demonstrated altered Hedgehog (Hh) pathway signaling underlying some MKS defects, although both tissues showed an expansion of the domain of response to Shh (<a href="/entry/600725">600725</a>) signaling, unlike the phenotypes seen in other mutants with cilia loss. Other defects in the skull, lung, rib cage, and long bones were thought likely to be the result of disruption of Hh signaling. <a href="#63" class="mim-tip-reference" title="Weatherbee, S. D., Niswander, L. A., Anderson, K. V. &lt;strong&gt;A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and hedgehog signaling.&lt;/strong&gt; Hum. Molec. Genet. 18: 4565-4575, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19776033/&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;19776033&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19776033[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddp422&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="19776033">Weatherbee et al. (2009)</a> concluded that disruption of Hh signaling may explain many, but not all, of the defects caused by loss of Mks1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19776033" 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>This condition was called dysencephalia splanchnocystica by <a href="#18" class="mim-tip-reference" title="Gruber, G. B. &lt;strong&gt;Beitraege zur Frage &#x27;gekoppelter&#x27; Missbildungen. (Akrocephalo-Syndactylie und Dysencephalia splanchnocystica).&lt;/strong&gt; Beitr. Path. Anat. 93: 459-476, 1934."None>Gruber (1934)</a>; it has been called Gruber syndrome. <a href="#37" class="mim-tip-reference" title="Opitz, J. M., Howe, J. J. &lt;strong&gt;The Meckel syndrome (dysencephalia splanchnocystica, the Gruber syndrome).&lt;/strong&gt; Birth Defects Orig. Art. Ser. 5: 167-179, 1969."None>Opitz and Howe (1969)</a> suggested it be called Meckel syndrome because of the clear description by Johann Friedrich <a href="#32" class="mim-tip-reference" title="Meckel, J. F. &lt;strong&gt;Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister.&lt;/strong&gt; Dtsch. Arch. Physiol. 7: 99-172, 1822."None>Meckel (1822)</a>.</p>
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<p>In 1984, the American Journal of Medical Genetics published a large issue devoted mainly to papers on the Meckel syndrome, derived from a Meckel symposium organized by the editor, John M. Opitz, which was held on the bicentennial of the birth of Johann Friedrich Meckel the Younger (1781-1833). (See <a href="#10" class="mim-tip-reference" title="Editorial. &lt;strong&gt;Johann Friedrich Meckel, the younger (1781-1833).&lt;/strong&gt; JAMA 214: 138-139, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4918159/&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;4918159&lt;/a&gt;]" pmid="4918159">editorial (1970)</a> and <a href="#48" class="mim-tip-reference" title="Seidler, E. &lt;strong&gt;Johann Friedrich Meckel the Younger (1781-1833).&lt;/strong&gt; Am. J. Med. Genet. 18: 571-586, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6385706/&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;6385706&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320180406&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="6385706">Seidler (1984)</a> for biographical information on Meckel.) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4918159+6385706" 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="#38" class="mim-tip-reference" title="Opitz, J. M., Schultka, R., Gobbel, L. &lt;strong&gt;Meckel on developmental pathology.&lt;/strong&gt; Am. J. Med. Genet. 140A: 115-128, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16353245/&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;16353245&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31043&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="16353245">Opitz et al. (2006)</a> gave a further review of the role of Meckel in developmental pathology. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16353245" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="seeAlso" class="mim-anchor"></a>
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<strong>See Also:</strong>
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<a href="#Ahdab-Barmada1990" class="mim-tip-reference" title="Ahdab-Barmada, M., Claassen, D. &lt;strong&gt;A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome.&lt;/strong&gt; J. Neuropath. Exp. Neurol. 49: 610-620, 1990.">Ahdab-Barmada and Claassen (1990)</a>; <a href="#Chemke1977" class="mim-tip-reference" title="Chemke, J., Miskin, A., Rav-Acha, Z., Porath, A., Sagiv, M., Katz, Z. &lt;strong&gt;Prenatal diagnosis of Meckel syndrome: alpha-feto protein and beta-trace protein in amniotic fluid.&lt;/strong&gt; Clin. Genet. 11: 285-289, 1977.">Chemke et al. (1977)</a>; <a href="#Crawfurd1978" class="mim-tip-reference" title="Crawfurd, MdA., Jackson, P., Kohler, H. G. &lt;strong&gt;Meckel&#x27;s syndrome (dysencephalia splanchno-cystica) in two Pakistani sibs.&lt;/strong&gt; J. Med. Genet. 15: 242-245, 1978.">Crawfurd et
al. (1978)</a>; <a href="#Friedrich1979" class="mim-tip-reference" title="Friedrich, U., Hansen, K. B., Hauge, M., Hagerstrand, I., Kristoffersen, K., Ludvigsen, E., Merrild, U., Norgaard-Pedersen, B., Petersen, G. B., Therkelsen, A. J. &lt;strong&gt;Prenatal diagnosis of polycystic kidneys and encephalocele (Meckel syndrome).&lt;/strong&gt; Clin. Genet. 15: 278-286, 1979.">Friedrich et al. (1979)</a>; <a href="#Fryns1980" class="mim-tip-reference" title="Fryns, J. P., Vandenberghe, K., van Assche, F. A., Cassiman, J. J., van den Berghe, H. &lt;strong&gt;Prenatal diagnosis of Meckel syndrome.&lt;/strong&gt; J. Genet. Hum. 28: 89-94, 1980.">Fryns et al. (1980)</a>; <a href="#Gluecklich1976" class="mim-tip-reference" title="Gluecklich, B. &lt;strong&gt;Johann Friedrich Meckel, the younger (1781-1833).&lt;/strong&gt; Am. J. Surg. 132: 384-386, 1976.">Gluecklich
(1976)</a>; <a href="#Leschot1978" class="mim-tip-reference" title="Leschot, N. J., de Nef, J. J., Becker-Bloemkolk, M. J., Verjaal, M., Wiesenhaan, P. F. &lt;strong&gt;Prenatal diagnosis of Meckel syndrome.&lt;/strong&gt; Hum. Genet. 43: 333-336, 1978.">Leschot et al. (1978)</a>; <a href="#Naffah1972" class="mim-tip-reference" title="Naffah, J., Ghosn, G., Gharios, N. &lt;strong&gt;Three new cases of Meckel&#x27;s syndrome or Gruber&#x27;s dysencephalia splanchnocystica in siblings.&lt;/strong&gt; Arch. Franc. Pediat. 29: 1069-1082, 1972.">Naffah et al. (1972)</a>; <a href="#Nevin1979" class="mim-tip-reference" title="Nevin, N. C., Thompson, W., Davidson, G., Horner, W. T. &lt;strong&gt;Prenatal diagnosis of the Meckel syndrome.&lt;/strong&gt; Clin. Genet. 15: 1-4, 1979.">Nevin et al.
(1979)</a>; <a href="#Norio1980" class="mim-tip-reference" title="Norio, R., Aula, P., Rapola, J. &lt;strong&gt;Meckel syndrome. In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K.: Population Structure and Genetic Disorders.&lt;/strong&gt; New York: Academic Press (pub.) 1980. Pp. 637-640.">Norio et al. (1980)</a>; <a href="#Plauchu1981" class="mim-tip-reference" title="Plauchu, H., Kemlin, I., Bouvier, R., Robert, J. M. &lt;strong&gt;Le syndrome de Meckel: sa variabilite d&#x27;expression peut faire obstacle au diagnostic prenatal.&lt;/strong&gt; J. Genet. Hum. 29: 431-440, 1981.">Plauchu et al. (1981)</a>; <a href="#Rapola1985" class="mim-tip-reference" title="Rapola, J., Salonen, R. &lt;strong&gt;Visceral anomalies in the Meckel syndrome.&lt;/strong&gt; Teratology 31: 193-201, 1985.">Rapola and
Salonen (1985)</a>; <a href="#Seller1975" class="mim-tip-reference" title="Seller, M. J. &lt;strong&gt;Prenatal diagnosis of a neural tube defect: Meckel syndrome.&lt;/strong&gt; J. Med. Genet. 12: 109-110, 1975.">Seller (1975)</a>; <a href="#Seller1978" class="mim-tip-reference" title="Seller, M. J. &lt;strong&gt;Meckel syndrome and the prenatal diagnosis of neuronal tube defects.&lt;/strong&gt; J. Med. Genet. 15: 462-465, 1978.">Seller (1978)</a>; <a href="#Verjaal1980" class="mim-tip-reference" title="Verjaal, M., Meyer, A. H., Becker-Bloemkolk, M. J., Leschot, N. J., derWeduwen, J. J., Gras, J. G. F. M. &lt;strong&gt;Oligohydramnios hampering prenatal diagnosis of Meckel syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 7: 85-86, 1980.">Verjaal et al. (1980)</a>; <a href="#Young1985" class="mim-tip-reference" title="Young, I. D., Rickett, A. B., Clarke, M. &lt;strong&gt;High incidence of Meckel&#x27;s syndrome in Gujarati Indians.&lt;/strong&gt; J. Med. Genet. 22: 301-304, 1985.">Young et al. (1985)</a>
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<a id="references"class="mim-anchor"></a>
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<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Ahdab-Barmada1990" class="mim-anchor"></a>
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<p class="mim-text-font">
Ahdab-Barmada, M., Claassen, D.
<strong>A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome.</strong>
J. Neuropath. Exp. Neurol. 49: 610-620, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2230839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2230839</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2230839" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1097/00005072-199011000-00007" target="_blank">Full Text</a>]
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<a id="Al-Gazali1996" class="mim-anchor"></a>
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<p class="mim-text-font">
Al-Gazali, L. I., Abdel Raziq, A., Al-Shather, W., Shahzadi, R., Azhar, N.
<strong>Meckel syndrome and Dandy Walker malformation.</strong>
Clin. Dysmorph. 5: 73-76, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8867663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8867663</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8867663" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1097/00019605-199601000-00011" target="_blank">Full Text</a>]
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<a id="Auber2007" class="mim-anchor"></a>
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<p class="mim-text-font">
Auber, B., Burfeind, P., Herold, S., Schoner, K., Simson, G., Rauskolb, R., Rehder, H.
<strong>A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome.</strong>
Clin. Genet. 72: 454-459, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17935508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17935508</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17935508" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.2007.00880.x" target="_blank">Full Text</a>]
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<a id="Blankenberg1987" class="mim-anchor"></a>
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Blankenberg, T. A., Ruebner, B. H., Ellis, W. G., Bernstein, J., Dimmick, J. E.
<strong>Pathology of renal and hepatic anomalies in Meckel syndrome.</strong>
Am. J. Med. Genet. Suppl. 3: 395-410, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3130875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3130875</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3130875" 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.1320280546" target="_blank">Full Text</a>]
</p>
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<a id="5" class="mim-anchor"></a>
<a id="Castilla1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Castilla, E. E., Lugarinho, R., de Garcia Dutra, M., Salgado, L. J.
<strong>Associated anomalies in individuals with polydactyly.</strong>
Am. J. Med. Genet. 80: 459-465, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9880209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9880209</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9880209" 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(19981228)80:5&lt;459::aid-ajmg5&gt;3.0.co;2-g" target="_blank">Full Text</a>]
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<a id="Chemke1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chemke, J., Miskin, A., Rav-Acha, Z., Porath, A., Sagiv, M., Katz, Z.
<strong>Prenatal diagnosis of Meckel syndrome: alpha-feto protein and beta-trace protein in amniotic fluid.</strong>
Clin. Genet. 11: 285-289, 1977.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/66999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">66999</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=66999" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1977.tb01314.x" target="_blank">Full Text</a>]
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<a id="Consugar2007" class="mim-anchor"></a>
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<p class="mim-text-font">
Consugar, M. B., Kubly, V. J., Lager, D. J., Hommerding, C. J., Wong, W. C., Bakker, E., Gattone, V. H., II, Torres, V. E., Breuning, M. H., Harris, P. C.
<strong>Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.</strong>
Hum. Genet. 121: 591-599, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17377820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17377820</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17377820" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s00439-007-0341-3" target="_blank">Full Text</a>]
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<a id="Crawfurd1978" class="mim-anchor"></a>
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<p class="mim-text-font">
Crawfurd, MdA., Jackson, P., Kohler, H. G.
<strong>Meckel's syndrome (dysencephalia splanchno-cystica) in two Pakistani sibs.</strong>
J. Med. Genet. 15: 242-245, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/671493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">671493</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=671493" 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.15.3.242" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="9" class="mim-anchor"></a>
<a id="Di Rocco1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Di Rocco, M.
<strong>On Saraiva and Baraitser and Joubert syndrome: a review. (Letter)</strong>
Am. J. Med. Genet. 46: 732, 1993.
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[<a href="https://doi.org/10.1002/ajmg.1320460630" target="_blank">Full Text</a>]
</p>
</div>
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<a id="10" class="mim-anchor"></a>
<a id="{Editorial}1970" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Editorial.
<strong>Johann Friedrich Meckel, the younger (1781-1833).</strong>
JAMA 214: 138-139, 1970.
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</p>
</div>
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<li>
<a id="11" class="mim-anchor"></a>
<a id="Farag1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Farag, T. I., Usha, R., Uma, R., Mady, S. A., Al-Nagdy, K., El-Badramany, M. H.
<strong>Phenotypic variability in Meckel-Gruber syndrome.</strong>
Clin. Genet. 38: 176-179, 1990.
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[<a href="https://doi.org/10.1111/j.1399-0004.1990.tb03568.x" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="12" class="mim-anchor"></a>
<a id="Fitch1973" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fitch, N., Pinsky, L.
<strong>The Meckel syndrome with limited expression in relatives.</strong>
Clin. Genet. 4: 33-37, 1973.
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[<a href="https://doi.org/10.1111/j.1399-0004.1973.tb01119.x" target="_blank">Full Text</a>]
</p>
</div>
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<a id="13" class="mim-anchor"></a>
<a id="Fraser1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fraser, F. C., Lytwyn, A.
<strong>Spectrum of anomalies in the Meckel syndrome, or: 'Maybe there is a malformation syndrome with at least one constant anomaly'.</strong>
Am. J. Med. Genet. 9: 67-73, 1981.
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[<a href="https://doi.org/10.1002/ajmg.1320090112" target="_blank">Full Text</a>]
</p>
</div>
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<a id="14" class="mim-anchor"></a>
<a id="Friedrich1979" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Friedrich, U., Hansen, K. B., Hauge, M., Hagerstrand, I., Kristoffersen, K., Ludvigsen, E., Merrild, U., Norgaard-Pedersen, B., Petersen, G. B., Therkelsen, A. J.
<strong>Prenatal diagnosis of polycystic kidneys and encephalocele (Meckel syndrome).</strong>
Clin. Genet. 15: 278-286, 1979.
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[<a href="https://doi.org/10.1111/j.1399-0004.1979.tb00980.x" target="_blank">Full Text</a>]
</p>
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<a id="15" class="mim-anchor"></a>
<a id="Fryns1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fryns, J. P., Vandenberghe, K., van Assche, F. A., Cassiman, J. J., van den Berghe, H.
<strong>Prenatal diagnosis of Meckel syndrome.</strong>
J. Genet. Hum. 28: 89-94, 1980.
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</p>
</div>
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<li>
<a id="16" class="mim-anchor"></a>
<a id="Genuardi1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Genuardi, M., Dionisi-Vici, C., Sabetta, G., Mignozzi, M., Rizzoni, G., Cotugno, G., Martini Neri, M. E.
<strong>Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly.</strong>
Am. J. Med. Genet. 47: 50-53, 1993.
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[<a href="https://doi.org/10.1002/ajmg.1320470111" target="_blank">Full Text</a>]
</p>
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<a id="17" class="mim-anchor"></a>
<a id="Gluecklich1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gluecklich, B.
<strong>Johann Friedrich Meckel, the younger (1781-1833).</strong>
Am. J. Surg. 132: 384-386, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/786056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">786056</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=786056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0002-9610(76)90398-6" target="_blank">Full Text</a>]
</p>
</div>
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<a id="18" class="mim-anchor"></a>
<a id="Gruber1934" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gruber, G. B.
<strong>Beitraege zur Frage 'gekoppelter' Missbildungen. (Akrocephalo-Syndactylie und Dysencephalia splanchnocystica).</strong>
Beitr. Path. Anat. 93: 459-476, 1934.
</p>
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<a id="Gulati1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gulati, R., Phadke, S. R., Agarwal, S. S.
<strong>Associated malformations in the family of a patient with Meckel syndrome: heterozygous expression?</strong>
J. Med. Genet. 34: 937-938, 1997.
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[<a href="https://doi.org/10.1136/jmg.34.11.937" target="_blank">Full Text</a>]
</p>
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<a id="20" class="mim-anchor"></a>
<a id="Halal1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Halal, F.
<strong>Distal obstructive uropathy with polydactyly: a new syndrome? (Letter)</strong>
Am. J. Med. Genet. 24: 753-757, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3740105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3740105</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3740105" 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.1320240419" target="_blank">Full Text</a>]
</p>
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<a id="21" class="mim-anchor"></a>
<a id="Herriot1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Herriot, R., Hallam, L. A., Gray, E. S.
<strong>Dandy-Walker malformation in the Meckel syndrome.</strong>
Am. J. Med. Genet. 39: 207-210, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2063927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2063927</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2063927" 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.1320390218" target="_blank">Full Text</a>]
</p>
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<a id="22" class="mim-anchor"></a>
<a id="Hsia1971" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hsia, Y. E., Bratu, M., Herbordt, A.
<strong>Genetics of the Meckel syndrome (dysencephalia splanchnocystica).</strong>
Pediatrics 48: 237-247, 1971.
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</p>
</div>
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<a id="23" class="mim-anchor"></a>
<a id="Hunter1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hunter, A. G., Jimenez, C., Tawagi, F. G.
<strong>Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome?</strong>
Am. J. Med. Genet. 41: 201-207, 1991.
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[<a href="https://doi.org/10.1002/ajmg.1320410214" target="_blank">Full Text</a>]
</p>
</div>
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<a id="24" class="mim-anchor"></a>
<a id="Karmous-Benailly2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Karmous-Benailly, H., Martinovic, J., Gubler, M.-C., Sirot, Y., Clech, L., Ozilou, C., Auge, J., Brahimi, N., Etchevers, H., Detrait, E., Esculpavit, C., Audollent, S., and 17 others.
<strong>Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.</strong>
Am. J. Hum. Genet. 76: 493-504, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15666242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15666242</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15666242[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15666242" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/428679" target="_blank">Full Text</a>]
</p>
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<a id="25" class="mim-anchor"></a>
<a id="Kyttala2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kyttala, M., Tallila, J., Salonen, R., Kopra, O., Kohlschmidt, N., Paavola-Sakki, P., Peltonen, L., Kestila, M.
<strong>MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.</strong>
Nature Genet. 38: 155-157, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16415886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16415886</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16415886" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng1714" target="_blank">Full Text</a>]
</p>
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<a id="26" class="mim-anchor"></a>
<a id="Leschot1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Leschot, N. J., de Nef, J. J., Becker-Bloemkolk, M. J., Verjaal, M., Wiesenhaan, P. F.
<strong>Prenatal diagnosis of Meckel syndrome.</strong>
Hum. Genet. 43: 333-336, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/81169/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">81169</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=81169" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00278842" target="_blank">Full Text</a>]
</p>
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<a id="Li2024" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Li, N., Xu, Y., Chen, H., Lin, J., AlAbdi, L., Bekheirnia, M. R., Li, G., Gofin, Y., Bekheirnia, N., Faqeih, E., Chen, L., Chang, G., and 10 others.
<strong>Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities.</strong>
EBioMedicine 99: 104940, 2024.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38154379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38154379</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=38154379[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38154379" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ebiom.2023.104940" target="_blank">Full Text</a>]
</p>
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<a id="Logan2011" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Logan, C. V., Abdel-Hamed, Z., Johnson, C. A.
<strong>Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects.</strong>
Molec. Neurobiol. 43: 12-26, 2011.
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[<a href="https://doi.org/10.1007/s12035-010-8154-0" target="_blank">Full Text</a>]
</p>
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<a id="Lurie1984" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lurie, I. W., Prytkov, A. N., Meldere, L. V.
<strong>Meckel syndrome in different populations.</strong>
Am. J. Med. Genet. 18: 661-669, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6486166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6486166</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6486166" 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.1320180413" target="_blank">Full Text</a>]
</p>
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<a id="30" class="mim-anchor"></a>
<a id="Majewski1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Majewski, F., Stoss, H., Goecke, T., Kemperdick, H.
<strong>Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome?</strong>
Hum. Genet. 65: 125-133, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6654326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6654326</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6654326" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00286648" target="_blank">Full Text</a>]
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<a id="Mecke1971" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mecke, S., Passarge, E.
<strong>Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome.</strong>
Ann. Genet. 14: 97-103, 1971.
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</p>
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<a id="Meckel1822" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Meckel, J. F.
<strong>Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister.</strong>
Dtsch. Arch. Physiol. 7: 99-172, 1822.
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[<a href="https://doi.org/10.1002/ajmg.1320180412" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/tera.1420310204" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320180415" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320180414" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320180406" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.12.1.109" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.15.6.462" target="_blank">Full Text</a>]
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<strong>Oral-facial-digital syndrome, with polycystic kidneys and liver: pathological and cytogenetic studies.</strong>
J. Med. Genet. 3: 145-147, 1966.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5963210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5963210</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5963210" 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.3.2.145" target="_blank">Full Text</a>]
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Verjaal, M., Meyer, A. H., Becker-Bloemkolk, M. J., Leschot, N. J., derWeduwen, J. J., Gras, J. G. F. M.
<strong>Oligohydramnios hampering prenatal diagnosis of Meckel syndrome. (Letter)</strong>
Am. J. Med. Genet. 7: 85-86, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7211955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7211955</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7211955" 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.1320070112" target="_blank">Full Text</a>]
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Verloes, A., Gillerot, Y., Langhendries, J.-P., Fryns, J.-P., Koulischer, L.
<strong>Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome.</strong>
Am. J. Med. Genet. 43: 669-677, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1621756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1621756</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1621756" 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.1320430404" target="_blank">Full Text</a>]
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<a id="Walbaum1967" class="mim-anchor"></a>
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Walbaum, R., Dehaene, P., Duthoit, F.
<strong>Polydactylie familiale avec dysplasie neuro-cranienne.</strong>
Ann. Genet. 10: 39-41, 1967.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5300125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5300125</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5300125" 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="Walpole1991" class="mim-anchor"></a>
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Walpole, I. R., Goldblatt, J., Hockey, A., Knowles, S.
<strong>Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome?</strong>
Am. J. Med. Genet. 39: 294-298, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1867280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1867280</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1867280" 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.1320390310" target="_blank">Full Text</a>]
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<a id="Weatherbee2009" class="mim-anchor"></a>
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Weatherbee, S. D., Niswander, L. A., Anderson, K. V.
<strong>A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and hedgehog signaling.</strong>
Hum. Molec. Genet. 18: 4565-4575, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19776033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19776033</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19776033[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19776033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/ddp422" target="_blank">Full Text</a>]
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<a id="Wright1994" class="mim-anchor"></a>
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Wright, C., Healicon, R., English, C., Burn, J.
<strong>Meckel syndrome: what are the minimum diagnostic criteria?</strong>
J. Med. Genet. 31: 482-485, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8071976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8071976</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8071976" 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.31.6.482" target="_blank">Full Text</a>]
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<a id="Young1985" class="mim-anchor"></a>
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Young, I. D., Rickett, A. B., Clarke, M.
<strong>High incidence of Meckel's syndrome in Gujarati Indians.</strong>
J. Med. Genet. 22: 301-304, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4045959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4045959</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4045959" 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.22.4.301" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 03/21/2024
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Ada Hamosh - updated : 4/8/2011<br>George E. Tiller - updated : 11/9/2010<br>Cassandra L. Kniffin - updated : 8/22/2008<br>Cassandra L. Kniffin - updated : 6/6/2007<br>Victor A. McKusick - updated : 1/3/2007<br>Victor A. McKusick - updated : 2/7/2006<br>Victor A. McKusick - updated : 1/18/2006<br>Victor A. McKusick - updated : 2/9/2005<br>Cassandra L. Kniffin - reorganized : 11/19/2002<br>Victor A. McKusick - updated : 4/28/1999<br>Victor A. McKusick - updated : 10/23/1998<br>Victor A. McKusick - updated : 10/20/1998<br>Michael J. Wright - updated : 6/17/1998<br>Victor A. McKusick - updated : 10/14/1997<br>Iosif W. Lurie - updated : 7/26/1996
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Creation Date:
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Victor A. McKusick : 6/4/1986
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alopez : 04/15/2024
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<strong>#</strong> 249000
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MECKEL SYNDROME, TYPE 1; MKS1
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<em>Alternative titles; symbols</em>
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MECKEL-GRUBER SYNDROME, TYPE 1<br />
MECKEL SYNDROME; MKS<br />
MES<br />
DYSENCEPHALIA SPLANCHNOCYSTICA<br />
GRUBER SYNDROME<br />
MECKEL-GRUBER SYNDROME
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<strong>ORPHA:</strong> 564; &nbsp;
<strong>DO:</strong> 0070115; &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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17q22
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Meckel syndrome 1
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249000
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Autosomal recessive
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3
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MKS1
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609883
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Meckel syndrome type 1 (MKS1) is caused by homozygous or compound heterozygous mutation in a gene encoding a component of the flagellar apparatus basal body proteome (MKS1; 609883) on chromosome 17q22.</p>
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<strong>Description</strong>
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<p>Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. </p><p><strong><em>Genetic Heterogeneity of Meckel Syndrome</em></strong></p><p>
See also MKS2 (603194), caused by mutation in the TMEM216 gene (613277) on chromosome 11q12; MKS3 (607361), caused by mutation in the TMEM67 gene (609884) on chromosome 8q; MKS4 (611134), caused by mutation in the CEP290 gene (610142) on chromosome 12q; MKS5 (611561), caused by mutation in the RPGRIP1L gene (610937) on chromosome 16q12; MKS6 (612284), caused by mutation in the CC2D2A gene (612013) on chromosome 4p15; MKS7 (267010), caused by mutation in the NPHP3 (608002) gene on chromosome 3q22; MKS8 (613885), caused by mutation in the TCTN2 gene (613846) on chromosome 12q24; MKS9 (614209), caused by mutation in the B9D1 gene (614144) on chromosome 17p11; MKS10 (614175), caused by mutation in the B9D2 gene (611951) on chromosome 19q13; MKS11 (615397), caused by mutation in the TMEM231 gene (614949) on chromosome 16q23; MKS12 (616258), caused by mutation in the KIF14 gene (611279) on chromosome 1q32; MKS13 (617562), caused by mutation in the TMEM107 gene (616183) on chromosome 17p13; and MKS14 (619879), caused by mutation in the TXNDC15 gene (617778) on chromosome 5q31.</p>
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<strong>Clinical Features</strong>
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<p>A great variety of malformations have been observed in Meckel syndrome. A frequent and particularly memorable combination is sloping forehead, posterior encephalocele, polydactyly, and polycystic kidneys. Fraser and Lytwyn (1981) concluded that cystic dysplasia of the kidneys is an obligate feature. Majewski et al. (1983) concluded that sometimes the polydactyly in Meckel syndrome is preaxial and that bowing of the long bones of the limbs occurs in about one-sixth of cases. </p><p>Pettersen (1984) described the gross anatomic changes of a newborn infant with the Meckel syndrome and noted differences from trisomy 13. Salonen (1984) reviewed the clinicopathologic findings in 67 cases in Finland, where the disorder is also unusually frequent. She proposed that cystic dysplasia of the kidneys with fibrotic changes in the liver and occipital encephalocele or some other central nervous system malformation are minimum diagnostic criteria. In a review of the pathologic findings in 9 cases, Blankenberg et al. (1987) concluded that a hepatic lesion is a consistent feature: arrested development of the intrahepatic biliary system at the stage of biliary cylinders with varying degrees of reactive bile duct proliferation, bile duct dilatation, portal fibrosis, and portal fibrous vascular obliteration. Death occurs in the perinatal period. </p><p>Herriot et al. (1991) described 2 sibs and another unrelated infant with Meckel syndrome in which the CNS anomaly was Dandy-Walker malformation (220200). Meckel syndrome type 7 (MKS7) has Dandy-Walker malformation as a more consistent feature. </p><p>Walpole et al. (1991) described a family in which 3 nonviable brothers had a variant of Dandy-Walker malformation associated with enlarged cystic dysplastic kidneys and hepatic fibrosis. The presence of these abnormalities in all 3 sibs in the absence of polydactyly and encephalocele suggested that this is a distinct syndrome, but its distinctness from the Meckel syndrome was by no means certain. Di Rocco (1993) suggested that the diagnosis in this case might be carbohydrate-deficient glycoprotein syndrome (CDG; 212065); she proposed that CDG syndrome should be considered in any patient with cerebellar dysplasia and renal or liver abnormalities. Summers and Donnenfeld (1995) described 3 sibs with varying manifestations of Meckel syndrome. The propositus had isolated cystic renal disease. In both of the other sibs, a prenatal diagnosis was made of renal disease, polydactyly, and Dandy-Walker malformation. </p><p>Al-Gazali et al. (1996) described an infant with occipital encephalocele, cystic kidneys, and postaxial polydactyly, who also manifested Dandy-Walker malformation. Al-Gazali et al. (1996) suggested that Dandy-Walker malformation should be added to the list of brain defects in Meckel syndrome. Castilla et al. (1998) performed an epidemiologic analysis of the association of polydactyly with other congenital anomalies in 5,927 consecutively born polydactyly cases. Trisomy 13, Meckel syndrome, and Down syndrome (190685) explained 255 of the 338 syndromic polydactyly cases. Down syndrome was strongly associated with first-digit duplication, and negatively associated with postaxial polydactyly. </p><p><strong><em>Clinical Variability</em></strong></p><p>
Seller (1981) collated information on phenotypic variability in Meckel syndrome in the published cases: 57% had all 3 major features, which she defined as encephalocele, polycystic kidneys, and polydactyly; 16% had the 2 features found in her 4 cases, i.e., encephalocele and polycystic kidneys; in 9 of 17 families with more than 1 affected sib, manifestation was the same in the affected persons, and in the only other 2 families with 4 affected sibs, expression varied among the sibs. </p><p>Simpson et al. (1991) reported on a study in which all cases of confirmed neural tube defects (NTD) in the states of California and Illinois in the years 1985-1987, including liveborn infants as well as cases ascertained during pregnancy, were identified with as complete ascertainment as possible. Mothers were interviewed within 5 months. Among postnatal NTD cases, 14.9% (45/303) had additional anomalies. The frequency of non-NTD-related anomalies was 22.9% (8/35) in encephalocele. The Meckel-Gruber syndrome was the most frequently identified specific syndrome. The high frequency of associated malformations suggested to Simpson et al. (1991) that caution must be exercised before assuming that a given case is polygenic-multifactorial in etiology, especially in cases of encephalocele. </p><p>Wright et al. (1994) described 2 sibs, the first of whom presented the classic Meckel syndrome triad, which they defined as encephalocele, postaxial polydactyly, and characteristic cystic changes in the kidney. The second sib showed none of these abnormalities but did show urethral atresia and preaxial polydactyly, 2 features previously described in some patients with Meckel syndrome. For example, 4 of the cases reviewed by Salonen (1984) had urethral atresia. The second sib showed features overlapping those of the entity reported as distal obstructive uropathy with polydactyly by Halal (1986); 2 unrelated stillborn infants had hydronephrosis, hydroureter, and bladder dilatation secondary to urethral obstruction, together with postaxial polydactyly. The 2 sibs illustrated the wide phenotypic spectrum of Meckel syndrome and the difficulty of defining minimum diagnostic criteria. </p><p>Nelson et al. (1994) described 3 brothers with Meckel syndrome whose father and his female paternal first cousin had postaxial polydactyly of both feet. They suggested that this represented a mild manifestation of the heterozygous carrier state. They referred to the report of Fitch and Pinsky (1973) who observed a family with postaxial polydactyly along with other possibly heterozygous manifestations. Gulati et al. (1997) reported a family in which 4 individuals had minor malformations related to Meckel syndrome. A sib of the proband had cleft lip and palate, a first cousin of the father had preaxial polydactyly, and her daughter had cleft lip. A second cousin of the mother had syndactyly of all 5 toes of the left foot. </p><p>The clinical delineation of MKS had long been confusing, and many authors, e.g., Mecke and Passarge (1971), Hunter et al. (1991), and Genuardi et al. (1993), had called attention to the number of ambiguous and overlapping syndromes that might be included under the general heading of cerebroacrovisceral (CAVE) multiplex syndrome, a designation introduced by Verloes et al. (1992). </p>
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<strong>Diagnosis</strong>
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<span class="mim-text-font">
<p><strong><em>Prenatal Diagnosis</em></strong></p><p>
In a pregnancy at risk, Pachi et al. (1989) made the prenatal diagnosis by finding at 10 weeks' gestation an abnormal anechoic cystic intracranial image, and at 13 weeks' gestation a skull defect in the occipital area through which part of the brain and meninges protruded into the amniotic cavity as well as abnormally enlarged kidneys. </p><p>Karmous-Benailly et al. (2005) speculated that fetuses with an antenatal diagnosis of Meckel or 'Meckel-like' syndrome (see 208540), because of the presence of cystic kidneys and polydactyly and/or hepatic fibrosis but no encephalocele, might be instances of Bardet-Biedl syndrome (BBS; 209900). They sequenced the 8 BBS genes in a series of 13 such cases. In 6, they identified a recessive mutation in a BBS gene: 3 in BBS2 (606151), 2 in BBS4 (600374), and 1 in BBS6 (604896). In addition to these homozygous mutations, they found a heterozygous BBS6 mutation in 3 additional cases. In their series there were no mutations found in BBS1, BBS3 (ARL6; 608845), BBS5, BBS7, or BBS8. The results indicated that the antenatal presentation of BBS may mimic Meckel syndrome. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Numerous examples of affected sibs, concordance in presumedly monozygotic twins (Stockard, 1921), roughly equal occurrence in males and females, and parental consanguinity in some instances (Tucker et al., 1966; Walbaum et al., 1967) make autosomal recessive inheritance quite certain. Simopoulos et al. (1967) described 3 male sibs with polycystic kidneys, internal hydrocephalus, and postaxial polydactyly. The parents were not related. Hsia et al. (1971) described 7 cases in 2 sibships: 2 sets of monozygotic twins in one and 3 sibs in another. Although many of the features suggest trisomy 13, occipital encephalocele has apparently never been observed in the chromosomal aberration. Mecke and Passarge (1971) reported 2 affected sisters. Seller (1981) described a family with 4 affected sibs. Each manifested only 2 of the 3 cardinal signs; all had encephalocele and polycystic kidneys, but none had polydactyly. </p><p>Salonen and Norio (1984) found good support for autosomal recessive inheritance; the proportion of affected sibs, corrected for truncate complete ascertainment, was 0.261. No parental consanguinity was found among the Finnish cases, a finding not surprising because of the high frequency of the gene in Finland, the generally low frequency of close marriage in that country and the fact that ancestry was not traced back far enough to find remote consanguinity. </p><p>Farag et al. (1990) described the Meckel syndrome in 5 sibs of a Bedouin family, each of whom had occipital encephalocele and polycystic kidneys but lacked polydactyly. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Paavola et al. (1995) mapped the MES locus to 17q21-q24 in a 13-cM region using microsatellite DNA markers. Paavola et al. (1995) found no obligatory recombination between MES and the growth hormone gene (139250). The HOXB gene cluster (e.g., 142968) is located nearby at 17q21-q22 and abnormalities of some of the Hoxb genes in mice lead to multiple malformations bearing some parallels to the MES phenotype. However, Paavola et al. (1995) found obligatory recombinants between the HOXB6 (142961) locus and MES. </p><p>Paavola et al. (1999) studied further the location of the genes for Meckel syndrome and mulibrey nanism (253250), which had been mapped to the same region, 17q21-q24. They constructed a bacterial clone contig over the critical region for both disorders. Several novel CA-repeat markers were isolated from these clones, which allowed refined mapping of the MKS and MUL loci using haplotype and linkage disequilibrium analysis. The localization of the MKS locus was narrowed and the entire MKS region was found to fall within the MUL region. However, in the common critical region, the conserved haplotypes were different in MKS and MUL patients. A transcript map was constructed by assigning ESTs and genes, derived from the human gene map, to the bacterial clone contig. Altogether, 4 genes and a total of 20 ESTs were precisely localized. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Heterogeneity</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Paavola et al. (1997) demonstrated clinical and genetic heterogeneity in Meckel syndrome in studies of 1 Italian family, 1 Austrian family (of Turkish origin), and 3 British families (Caucasian, Pakistani, and Bangladeshi). They excluded cosegregation of the disease and marker haplotypes in the Austrian family and in the 3 British families, of which 2 represented classic Meckel syndrome and 1 a somewhat atypical Meckel syndrome phenotype with longer survival of the patient. In the Italian family, with 1 affected child, the affected and unaffected children did not share the same maternal chromosome and thus this family could represent the same allelic disease as the Finnish MKS families. The results suggested locus heterogeneity in Meckel syndrome, a feature previously suspected because of the highly variable clinical phenotype. </p><p>Shaheen et al. (2011) identified 3 consanguineous Arab families with Meckel-Gruber syndrome. In 2 of these families, no mutation was identified. While the phenotype in 1 of these families mapped to the MKS3 locus (607361), no mutation was found in the TMEM67 gene (609884). In the other family, homozygosity scan confidently excluded all MKS loci known to that time, indicating that, since compound heterozygosity is unlikely to exist in the setting of first-cousin unions, 2 novel MKS loci are likely to exist in the study population. The remaining family carried a mutation in the TCTN2 gene (see 613846.0001 and MKS8, 613885). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In Finland, Salonen and Norio (1984) found that Meckel syndrome has a birth prevalence of 1:9,000 and a disease gene frequency of 0.01, which is of the same order of magnitude as that of the most common recessive diseases belonging to the 'Finnish disease heritage,' that is, genetic disorders enriched or only encountered in Finland. However, in MES, comparable or even higher incidences are reported from other populations. Lurie et al. (1984) pointed to a relatively high frequency of the syndrome among Tatars in the Soviet Union. </p><p>Auber et al. (2007) identified the 29-bp deletion in intron 15 of the MKS1 gene (609883.0001) in 8 of 20 unrelated fetuses diagnosed clinically with MKS. Six cases, consisting of 1 heterozygous and 5 homozygous mutations, had the campomelic variant of the disorder. The carrier frequency of this mutation in the German population was determined to be 1 in 260, and the incidence of MKS was estimated at 1 in 135,000. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Kyttala et al. (2006) identified a gene, which they designated MKS1 (609883), that was mutated in Meckel syndrome families linked to 17q. Expression of the Mks1 gene in mouse embryos, as determined by in situ hybridization, agreed well with the tissue phenotype of Meckel syndrome. Comparative genomics and proteomics data implicated MKS1 in ciliary functions. </p><p>Consugar et al. (2007) identified mutations in the MKS1 gene in affected individuals in 5 of 17 families with a clinical diagnosis of Meckel syndrome. All 5 families had the major Finnish deletion mutation (609883.0001): 2 were homozygous, and 3 were compound heterozygous with another pathogenic MKS1 mutation (609883.0004 and 609883.0005). All cases with available data had polydactyly. Five of 17 families had mutations in the TMEM67 gene (609884) consistent with MKS3, and 7 families had no detectable mutation in either MKS1 or TMEM67, suggesting further genetic heterogeneity. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
Shamseldin et al. (2020) performed genomic analysis in a cohort of 125 families with ciliopathies, and identified heterozygosity for a 1-bp deletion (c.2603delA) in the CEP295 gene (617728), causing a frameshift predicted to result in a premature termination codon (Gln868ArgfsTer25), in the parents of a fetus (15DG0637) diagnosed with Meckel-Gruber syndrome. Limited clinical information was provided, but the phenotype was tabulated as a stillbirth with encephalocele and dysplastic kidneys, but no polydactyly. The ACMG classification was tabulated as 'variant of unknown significance.' Li et al. (2024) reviewed photographs of the affected fetus and observed a depressed nasal bridge, broad mouth, mild retrognathia, and brachydactyly, suggesting that the fetus had a syndromic disease. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Weatherbee et al. (2009) showed that loss of function of mouse Mks1 resulted in an accurate model of Meckel syndrome, with structural abnormalities in the neural tube, biliary duct, limb patterning, bone development, and the kidney. In contrast to cell culture studies, loss of Mks1 in vivo did not interfere with apical localization of epithelial basal bodies, but rather led to defective cilia formation in most, but not all, tissues. Analysis of patterning in the neural tube and the limb demonstrated altered Hedgehog (Hh) pathway signaling underlying some MKS defects, although both tissues showed an expansion of the domain of response to Shh (600725) signaling, unlike the phenotypes seen in other mutants with cilia loss. Other defects in the skull, lung, rib cage, and long bones were thought likely to be the result of disruption of Hh signaling. Weatherbee et al. (2009) concluded that disruption of Hh signaling may explain many, but not all, of the defects caused by loss of Mks1. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Nomenclature</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>This condition was called dysencephalia splanchnocystica by Gruber (1934); it has been called Gruber syndrome. Opitz and Howe (1969) suggested it be called Meckel syndrome because of the clear description by Johann Friedrich Meckel (1822).</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In 1984, the American Journal of Medical Genetics published a large issue devoted mainly to papers on the Meckel syndrome, derived from a Meckel symposium organized by the editor, John M. Opitz, which was held on the bicentennial of the birth of Johann Friedrich Meckel the Younger (1781-1833). (See editorial (1970) and Seidler (1984) for biographical information on Meckel.) </p><p>Opitz et al. (2006) gave a further review of the role of Meckel in developmental pathology. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Ahdab-Barmada and Claassen (1990); Chemke et al. (1977); Crawfurd et
al. (1978); Friedrich et al. (1979); Fryns et al. (1980); Gluecklich
(1976); Leschot et al. (1978); Naffah et al. (1972); Nevin et al.
(1979); Norio et al. (1980); Plauchu et al. (1981); Rapola and
Salonen (1985); Seller (1975); Seller (1978); Verjaal et al. (1980);
Young et al. (1985)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Ahdab-Barmada, M., Claassen, D.
<strong>A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome.</strong>
J. Neuropath. Exp. Neurol. 49: 610-620, 1990.
[PubMed: 2230839]
[Full Text: https://doi.org/10.1097/00005072-199011000-00007]
</p>
</li>
<li>
<p class="mim-text-font">
Al-Gazali, L. I., Abdel Raziq, A., Al-Shather, W., Shahzadi, R., Azhar, N.
<strong>Meckel syndrome and Dandy Walker malformation.</strong>
Clin. Dysmorph. 5: 73-76, 1996.
[PubMed: 8867663]
[Full Text: https://doi.org/10.1097/00019605-199601000-00011]
</p>
</li>
<li>
<p class="mim-text-font">
Auber, B., Burfeind, P., Herold, S., Schoner, K., Simson, G., Rauskolb, R., Rehder, H.
<strong>A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome.</strong>
Clin. Genet. 72: 454-459, 2007.
[PubMed: 17935508]
[Full Text: https://doi.org/10.1111/j.1399-0004.2007.00880.x]
</p>
</li>
<li>
<p class="mim-text-font">
Blankenberg, T. A., Ruebner, B. H., Ellis, W. G., Bernstein, J., Dimmick, J. E.
<strong>Pathology of renal and hepatic anomalies in Meckel syndrome.</strong>
Am. J. Med. Genet. Suppl. 3: 395-410, 1987.
[PubMed: 3130875]
[Full Text: https://doi.org/10.1002/ajmg.1320280546]
</p>
</li>
<li>
<p class="mim-text-font">
Castilla, E. E., Lugarinho, R., de Garcia Dutra, M., Salgado, L. J.
<strong>Associated anomalies in individuals with polydactyly.</strong>
Am. J. Med. Genet. 80: 459-465, 1998.
[PubMed: 9880209]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19981228)80:5&lt;459::aid-ajmg5&gt;3.0.co;2-g]
</p>
</li>
<li>
<p class="mim-text-font">
Chemke, J., Miskin, A., Rav-Acha, Z., Porath, A., Sagiv, M., Katz, Z.
<strong>Prenatal diagnosis of Meckel syndrome: alpha-feto protein and beta-trace protein in amniotic fluid.</strong>
Clin. Genet. 11: 285-289, 1977.
[PubMed: 66999]
[Full Text: https://doi.org/10.1111/j.1399-0004.1977.tb01314.x]
</p>
</li>
<li>
<p class="mim-text-font">
Consugar, M. B., Kubly, V. J., Lager, D. J., Hommerding, C. J., Wong, W. C., Bakker, E., Gattone, V. H., II, Torres, V. E., Breuning, M. H., Harris, P. C.
<strong>Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.</strong>
Hum. Genet. 121: 591-599, 2007.
[PubMed: 17377820]
[Full Text: https://doi.org/10.1007/s00439-007-0341-3]
</p>
</li>
<li>
<p class="mim-text-font">
Crawfurd, MdA., Jackson, P., Kohler, H. G.
<strong>Meckel&#x27;s syndrome (dysencephalia splanchno-cystica) in two Pakistani sibs.</strong>
J. Med. Genet. 15: 242-245, 1978.
[PubMed: 671493]
[Full Text: https://doi.org/10.1136/jmg.15.3.242]
</p>
</li>
<li>
<p class="mim-text-font">
Di Rocco, M.
<strong>On Saraiva and Baraitser and Joubert syndrome: a review. (Letter)</strong>
Am. J. Med. Genet. 46: 732, 1993.
[PubMed: 8362922]
[Full Text: https://doi.org/10.1002/ajmg.1320460630]
</p>
</li>
<li>
<p class="mim-text-font">
Editorial.
<strong>Johann Friedrich Meckel, the younger (1781-1833).</strong>
JAMA 214: 138-139, 1970.
[PubMed: 4918159]
</p>
</li>
<li>
<p class="mim-text-font">
Farag, T. I., Usha, R., Uma, R., Mady, S. A., Al-Nagdy, K., El-Badramany, M. H.
<strong>Phenotypic variability in Meckel-Gruber syndrome.</strong>
Clin. Genet. 38: 176-179, 1990.
[PubMed: 2225527]
[Full Text: https://doi.org/10.1111/j.1399-0004.1990.tb03568.x]
</p>
</li>
<li>
<p class="mim-text-font">
Fitch, N., Pinsky, L.
<strong>The Meckel syndrome with limited expression in relatives.</strong>
Clin. Genet. 4: 33-37, 1973.
[PubMed: 4632429]
[Full Text: https://doi.org/10.1111/j.1399-0004.1973.tb01119.x]
</p>
</li>
<li>
<p class="mim-text-font">
Fraser, F. C., Lytwyn, A.
<strong>Spectrum of anomalies in the Meckel syndrome, or: &#x27;Maybe there is a malformation syndrome with at least one constant anomaly&#x27;.</strong>
Am. J. Med. Genet. 9: 67-73, 1981.
[PubMed: 7246621]
[Full Text: https://doi.org/10.1002/ajmg.1320090112]
</p>
</li>
<li>
<p class="mim-text-font">
Friedrich, U., Hansen, K. B., Hauge, M., Hagerstrand, I., Kristoffersen, K., Ludvigsen, E., Merrild, U., Norgaard-Pedersen, B., Petersen, G. B., Therkelsen, A. J.
<strong>Prenatal diagnosis of polycystic kidneys and encephalocele (Meckel syndrome).</strong>
Clin. Genet. 15: 278-286, 1979.
[PubMed: 84722]
[Full Text: https://doi.org/10.1111/j.1399-0004.1979.tb00980.x]
</p>
</li>
<li>
<p class="mim-text-font">
Fryns, J. P., Vandenberghe, K., van Assche, F. A., Cassiman, J. J., van den Berghe, H.
<strong>Prenatal diagnosis of Meckel syndrome.</strong>
J. Genet. Hum. 28: 89-94, 1980.
[PubMed: 7205201]
</p>
</li>
<li>
<p class="mim-text-font">
Genuardi, M., Dionisi-Vici, C., Sabetta, G., Mignozzi, M., Rizzoni, G., Cotugno, G., Martini Neri, M. E.
<strong>Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly.</strong>
Am. J. Med. Genet. 47: 50-53, 1993.
[PubMed: 8368252]
[Full Text: https://doi.org/10.1002/ajmg.1320470111]
</p>
</li>
<li>
<p class="mim-text-font">
Gluecklich, B.
<strong>Johann Friedrich Meckel, the younger (1781-1833).</strong>
Am. J. Surg. 132: 384-386, 1976.
[PubMed: 786056]
[Full Text: https://doi.org/10.1016/0002-9610(76)90398-6]
</p>
</li>
<li>
<p class="mim-text-font">
Gruber, G. B.
<strong>Beitraege zur Frage &#x27;gekoppelter&#x27; Missbildungen. (Akrocephalo-Syndactylie und Dysencephalia splanchnocystica).</strong>
Beitr. Path. Anat. 93: 459-476, 1934.
</p>
</li>
<li>
<p class="mim-text-font">
Gulati, R., Phadke, S. R., Agarwal, S. S.
<strong>Associated malformations in the family of a patient with Meckel syndrome: heterozygous expression?</strong>
J. Med. Genet. 34: 937-938, 1997.
[PubMed: 9391891]
[Full Text: https://doi.org/10.1136/jmg.34.11.937]
</p>
</li>
<li>
<p class="mim-text-font">
Halal, F.
<strong>Distal obstructive uropathy with polydactyly: a new syndrome? (Letter)</strong>
Am. J. Med. Genet. 24: 753-757, 1986.
[PubMed: 3740105]
[Full Text: https://doi.org/10.1002/ajmg.1320240419]
</p>
</li>
<li>
<p class="mim-text-font">
Herriot, R., Hallam, L. A., Gray, E. S.
<strong>Dandy-Walker malformation in the Meckel syndrome.</strong>
Am. J. Med. Genet. 39: 207-210, 1991.
[PubMed: 2063927]
[Full Text: https://doi.org/10.1002/ajmg.1320390218]
</p>
</li>
<li>
<p class="mim-text-font">
Hsia, Y. E., Bratu, M., Herbordt, A.
<strong>Genetics of the Meckel syndrome (dysencephalia splanchnocystica).</strong>
Pediatrics 48: 237-247, 1971.
[PubMed: 4997860]
</p>
</li>
<li>
<p class="mim-text-font">
Hunter, A. G., Jimenez, C., Tawagi, F. G.
<strong>Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome?</strong>
Am. J. Med. Genet. 41: 201-207, 1991.
[PubMed: 1785635]
[Full Text: https://doi.org/10.1002/ajmg.1320410214]
</p>
</li>
<li>
<p class="mim-text-font">
Karmous-Benailly, H., Martinovic, J., Gubler, M.-C., Sirot, Y., Clech, L., Ozilou, C., Auge, J., Brahimi, N., Etchevers, H., Detrait, E., Esculpavit, C., Audollent, S., and 17 others.
<strong>Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.</strong>
Am. J. Hum. Genet. 76: 493-504, 2005.
[PubMed: 15666242]
[Full Text: https://doi.org/10.1086/428679]
</p>
</li>
<li>
<p class="mim-text-font">
Kyttala, M., Tallila, J., Salonen, R., Kopra, O., Kohlschmidt, N., Paavola-Sakki, P., Peltonen, L., Kestila, M.
<strong>MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.</strong>
Nature Genet. 38: 155-157, 2006.
[PubMed: 16415886]
[Full Text: https://doi.org/10.1038/ng1714]
</p>
</li>
<li>
<p class="mim-text-font">
Leschot, N. J., de Nef, J. J., Becker-Bloemkolk, M. J., Verjaal, M., Wiesenhaan, P. F.
<strong>Prenatal diagnosis of Meckel syndrome.</strong>
Hum. Genet. 43: 333-336, 1978.
[PubMed: 81169]
[Full Text: https://doi.org/10.1007/BF00278842]
</p>
</li>
<li>
<p class="mim-text-font">
Li, N., Xu, Y., Chen, H., Lin, J., AlAbdi, L., Bekheirnia, M. R., Li, G., Gofin, Y., Bekheirnia, N., Faqeih, E., Chen, L., Chang, G., and 10 others.
<strong>Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities.</strong>
EBioMedicine 99: 104940, 2024.
[PubMed: 38154379]
[Full Text: https://doi.org/10.1016/j.ebiom.2023.104940]
</p>
</li>
<li>
<p class="mim-text-font">
Logan, C. V., Abdel-Hamed, Z., Johnson, C. A.
<strong>Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects.</strong>
Molec. Neurobiol. 43: 12-26, 2011.
[PubMed: 21110233]
[Full Text: https://doi.org/10.1007/s12035-010-8154-0]
</p>
</li>
<li>
<p class="mim-text-font">
Lurie, I. W., Prytkov, A. N., Meldere, L. V.
<strong>Meckel syndrome in different populations.</strong>
Am. J. Med. Genet. 18: 661-669, 1984.
[PubMed: 6486166]
[Full Text: https://doi.org/10.1002/ajmg.1320180413]
</p>
</li>
<li>
<p class="mim-text-font">
Majewski, F., Stoss, H., Goecke, T., Kemperdick, H.
<strong>Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome?</strong>
Hum. Genet. 65: 125-133, 1983.
[PubMed: 6654326]
[Full Text: https://doi.org/10.1007/BF00286648]
</p>
</li>
<li>
<p class="mim-text-font">
Mecke, S., Passarge, E.
<strong>Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome.</strong>
Ann. Genet. 14: 97-103, 1971.
[PubMed: 4997715]
</p>
</li>
<li>
<p class="mim-text-font">
Meckel, J. F.
<strong>Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister.</strong>
Dtsch. Arch. Physiol. 7: 99-172, 1822.
</p>
</li>
<li>
<p class="mim-text-font">
Naffah, J., Ghosn, G., Gharios, N.
<strong>Three new cases of Meckel&#x27;s syndrome or Gruber&#x27;s dysencephalia splanchnocystica in siblings.</strong>
Arch. Franc. Pediat. 29: 1069-1082, 1972.
[PubMed: 4662280]
</p>
</li>
<li>
<p class="mim-text-font">
Nelson, J., Nevin, N. C., Hanna, E. J.
<strong>Polydactyly in a carrier of the gene for the Meckel syndrome.</strong>
Am. J. Med. Genet. 53: 207-209, 1994.
[PubMed: 7856653]
[Full Text: https://doi.org/10.1002/ajmg.1320530302]
</p>
</li>
<li>
<p class="mim-text-font">
Nevin, N. C., Thompson, W., Davidson, G., Horner, W. T.
<strong>Prenatal diagnosis of the Meckel syndrome.</strong>
Clin. Genet. 15: 1-4, 1979.
[PubMed: 83212]
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[Full Text: https://doi.org/10.1002/ajmg.1320180412]
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<strong>Prenatal diagnosis of a neural tube defect: Meckel syndrome.</strong>
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<strong>Meckel syndrome and the prenatal diagnosis of neuronal tube defects.</strong>
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Clin. Genet. 20: 74-77, 1981.
[PubMed: 7296953]
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<strong>Polydactylie familiale avec dysplasie neuro-cranienne.</strong>
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<strong>High incidence of Meckel&#x27;s syndrome in Gujarati Indians.</strong>
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