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<title>
Entry
- #210710 - MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1
- OMIM
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<span class="h4">#210710</span>
<br />
<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/210710"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#history">History</a>
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<a href="#references"><strong>References</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0060608" 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/210710" 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>
</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>SNOMEDCT:</strong> 254102008<br />
<strong>ORPHA:</strong> 2636<br />
<strong>DO:</strong> 0060608<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>
210710
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1
</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">
MOPD I; MOPD<br />
TAYBI-LINDER SYNDROME; TALS<br />
OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I<br />
BRACHYMELIC PRIMORDIAL DWARFISM<br />
CEPHALOSKELETAL DYSPLASIA<br />
LOW-BIRTH-WEIGHT DWARFISM WITH SKELETAL DYSPLASIA<br />
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III<br />
MOPD III; MOPD3<br />
OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III<br />
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE I/III<br />
MOPD I/III<br />
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, CAROLINE CRACHAMI TYPE<br />
MOPD, CAROLINE CRACHAMI TYPE<br />
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE<br />
MOPD, SICILIAN FAIRY TYPE
</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/2/613?start=-3&limit=10&highlight=613">
2q14.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Microcephalic osteodysplastic primordial dwarfism, type I
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/210710"> 210710 </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">
RNU4ATAC
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601428"> 601428 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/210710" 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">
<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/210710" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/210710" 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> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short stature, disproportionate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/772086000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">772086000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0878659&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0878659</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003498" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003498</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003498" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003498</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Intrauterine growth retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22033007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22033007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/764.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.90</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/764.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015934&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015934</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span><br /> -
Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</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 /> -
Small anterior fontanel <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859455&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859455</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000237" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000237</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000237" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000237</a>]</span><br /> -
Prominent occiput <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853737&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853737</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000269" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000269</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000269" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000269</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=d867e4ba8355e423f813671a1ab548a5" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Occiput,Prominent-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=d867e4ba8355e423f813671a1ab548a5&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 />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35045004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35045004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/744.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">744.23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152423&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152423</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008551" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008551</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008551" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008551</a>]</span><br /> -
Dysplastic ears <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0857379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0857379</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000377" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000377</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000377" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000377</a>]</span><br /> -
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">
- Prominent eyes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837760&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837760</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000520" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000520</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000520" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000520</a>]</span><br /> -
Sparse eyebrows <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422441003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422441003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0578682&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0578682</a>, <a href="https://bioportal.bioontology.org/search?q=C1832446&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832446</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002223" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002223</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0045075" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0045075</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0045075" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0045075</a>]</span><br /> -
Sparse eyelashes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843300&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843300</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000653</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000653</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=09052e490ffb13e8a17a589d4a9208f0" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyelashes,Sparse-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=09052e490ffb13e8a17a589d4a9208f0&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> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Large, fleshy nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859456</a>]</span><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 />
</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">
- Tetralogy of Fallot <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86299006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86299006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0039685&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039685</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001636" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001636</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001636" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001636</a>]</span><br /> -
Atrial septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253366007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253366007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405752007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405752007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70142008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70142008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018817</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001631</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001631</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">
- 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>
<div>
<div>
<span class="h5 mim-font">
<strong> CHEST </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Ribs Sternum Clavicles & Scapulae </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Long clavicles <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249687007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249687007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426808&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426808</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000890" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000890</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000890" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000890</a>]</span><br /> -
11 pairs of ribs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000878" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000878</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000878" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000878</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> Liver </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Neonatal cholestasis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/433237003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">433237003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1112213&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1112213</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">
- Micropenis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34911001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34911001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q55.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q55.62</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.64" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.64</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266435&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266435</a>, <a href="https://bioportal.bioontology.org/search?q=C4551492&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551492</a>, <a href="https://bioportal.bioontology.org/search?q=C1387005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1387005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008736" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008736</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000054" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000054</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000054" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000054</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> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Focal medullary hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859454&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859454</a>]</span><br /> -
Renal cysts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/722223000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">722223000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3887499&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887499</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000107</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000107</a>]</span><br /> -
Renal hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32659003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32659003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q60.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q60.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266295</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000089" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000089</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000089" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000089</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>
<span class="mim-font">
- Contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57048009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57048009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55033002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55033002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M62.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M62.40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M62.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M62.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009917&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009917</a>]</span><br /> -
Delayed bone age <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/123983008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">123983008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0541764&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0541764</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002750</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002750</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Skull </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Steep skull base <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859457&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859457</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Platyspondyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844704&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844704</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000926" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000926</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000926" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000926</a>]</span><br /> -
Cleft vertebral arches <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859458&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859458</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004616" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004616</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004616" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004616</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Pelvis </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypoplastic ilia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861218</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000946" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000946</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000946" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000946</a>]</span><br /> -
Horizontal iliac wings <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859459&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859459</a>]</span><br /> -
Hip contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/202283002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">202283002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.55" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.55</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0409354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0409354</a>, <a href="https://bioportal.bioontology.org/search?q=C0019553&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019553</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003273" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003273</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003273" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003273</a>]</span><br /> -
Hip dislocation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/157265008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">157265008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/S73.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">S73.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/835" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">835</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019554&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019554</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002827" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002827</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002827" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002827</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239399&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239399</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009826" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009826</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009826" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009826</a>]</span><br /> -
Bowed humeri <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859460&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859460</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003865" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003865</a>]</span><br /> -
Short humeri <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1832117&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832117</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005792" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005792</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005792" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005792</a>]</span><br /> -
Elbow dislocation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/417558002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">417558002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/125617002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">125617002</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/832" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">832</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2720437&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2720437</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003042" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003042</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003042" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003042</a>]</span><br /> -
Bowed femora <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859461&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859461</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002980" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002980</a>]</span><br /> -
Absent knee epiphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859462&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859462</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006400" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006400</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006400" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006400</a>]</span><br /> -
Elbow contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/239734000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">239734000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.52</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833142&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833142</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034391" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034391</a>]</span><br /> -
Shoulder contractures <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848475&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848475</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034665" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034665</a>]</span><br /> -
Knee contractures <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.56" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.56</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837263&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837263</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034671" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034671</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034671" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034671</a>]</span><br /> -
Enlarged metaphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855544</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003051" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003051</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003051" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003051</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">
- Brachydactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43476002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43476002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221357&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221357</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span><br /> -
Short metacarpals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837084&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837084</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010049</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010049</a>]</span><br /> -
Bilateral transverse palmar creases <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836208</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248409006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248409006</a>]</span><br /> -
Relatively large hands <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859463&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859463</a>]</span><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">
- Relatively large feet <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859464&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859464</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hyperkeratosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254666005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254666005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399955009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399955009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26996000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26996000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0870082&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0870082</a>, <a href="https://bioportal.bioontology.org/search?q=C0022593&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022593</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000962" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000962</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000962" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000962</a>]</span><br /> -
Bilateral transverse palmar creases <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836208</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248409006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248409006</a>]</span><br /> -
Dry skin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52475004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52475004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E50.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E50.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0043345&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0043345</a>, <a href="https://bioportal.bioontology.org/search?q=C0720057&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0720057</a>, <a href="https://bioportal.bioontology.org/search?q=C0151908&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151908</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000958" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000958</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000958" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000958</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Sparse-absent scalp hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857042&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857042</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002209</a>]</span><br /> -
Sparse eyebrows <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422441003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422441003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0578682&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0578682</a>, <a href="https://bioportal.bioontology.org/search?q=C1832446&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832446</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002223" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002223</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0045075" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0045075</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0045075" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0045075</a>]</span><br /> -
Sparse eyelashes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843300&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843300</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000653</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000653</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=09052e490ffb13e8a17a589d4a9208f0" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyelashes,Sparse-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=09052e490ffb13e8a17a589d4a9208f0&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>
<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">
- Mental retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
Pachygyria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23024003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23024003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q04.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q04.8</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q04.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q04.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001302" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001302</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001302" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001302</a>]</span><br /> -
Heterotopias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/719446000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">719446000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/128490007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">128490007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/417338002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">417338002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008519&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008519</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002282" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002282</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002282" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002282</a>]</span><br /> -
Agenesis 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 /> -
Agenesis of cerebellar vermis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/890430009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">890430009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253175003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253175003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/716997004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">716997004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431399&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431399</a>, <a href="https://bioportal.bioontology.org/search?q=C5437781&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5437781</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002335" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002335</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002335" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002335</a>]</span><br /> -
Hypoplastic frontal lobes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849172&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849172</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007333" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007333</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007333" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007333</a>]</span><br /> -
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br />
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<strong> PRENATAL MANIFESTATIONS </strong>
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- Stillbirth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237364002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237364002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/P95" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">P95</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0595939&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0595939</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003826" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003826</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003826" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003826</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Infants are stillborn or die before age 1<br /> -
Death often secondary to infectious disease<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the RNA, U4, small nuclear, AT-AC form gene (RNU4ATAC, <a href="/entry/601428#0001">601428.0001</a>)<br />
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<p>A number sign (#) is used with this entry because microcephalic osteodysplastic primordial dwarfism type I (MOPD1), or Taybi-Linder syndrome, is caused by homozygous or compound heterozygous mutation in the RNU4ATAC gene (<a href="/entry/601428">601428</a>), encoding a small nuclear RNA (snRNA) component of the U12 (RNU12; <a href="/entry/620204">620204</a>)-dependent (minor) spliceosome, on chromosome 2q14.</p>
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<strong>Description</strong>
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<p>Microcephalic osteodysplastic primordial dwarfism type I (MOPD1) is a severe autosomal recessive skeletal dysplasia characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular/auditory sensory deficits. Patients often die in early childhood (summary by <a href="#20" class="mim-tip-reference" title="Pierce, M. J., Morse, R. P. &lt;strong&gt;The neurologic findings in Taybi-Linder syndrome (MOPD I/III): case report and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 158A: 606-610, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22302400/&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;22302400&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33958&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="22302400">Pierce and Morse, 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22302400" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p><a href="#14" class="mim-tip-reference" title="Majewski, F., Spranger, J. &lt;strong&gt;Ueber einen neuen Typ des primordialen Minderwuchses: der brachymele primordiale Minderwuchs.&lt;/strong&gt; Mschr. Kinderheilk. 124: 499-503, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/934161/&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;934161&lt;/a&gt;]" pmid="934161">Majewski and Spranger (1976)</a> described a form of brachymelic primordial dwarfism that resembled Seckel syndrome (see <a href="/entry/210600">210600</a>) except for abnormal body proportions and short limbs; Seckel syndrome patients have normal proportions. The pelvis was low, broad, and 'dysplastic' with lack of formation of the acetabulum. The humeri and femora were short, bowed, and broad with rather unremarkable metaphyses. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=934161" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Haan, E. A., Furness, M. E., Knowles, S., Morris, L. L., Scott, G., Svigos, J. M., Vigneswaren, R. &lt;strong&gt;Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III.&lt;/strong&gt; Am. J. Med. Genet. 33: 224-227, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2764032/&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;2764032&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320330216&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="2764032">Haan et al. (1989)</a> reported a case with features similar to those described for both type I and type III osteodysplastic primordial dwarfism. The case resembled that reported by <a href="#27" class="mim-tip-reference" title="Winter, R. M., Wigglesworth, J., Harding, B. N. &lt;strong&gt;Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III.&lt;/strong&gt; Am. J. Med. Genet. 21: 569-574, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4025388/&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;4025388&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320210318&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="4025388">Winter et al. (1985)</a> and one pictured by <a href="#26" class="mim-tip-reference" title="Wiedemann, H. R., Grosse, F. R., Dibbern, H. &lt;strong&gt;An Atlas of Characteristic Syndromes: A Visual Aid to Diagnosis.&lt;/strong&gt; Stuttgart: Wolfe Med. Publ. (pub.) 1982. P. 110."None>Wiedemann et al. (1982)</a>. In light of these 3 cases, <a href="#5" class="mim-tip-reference" title="Haan, E. A., Furness, M. E., Knowles, S., Morris, L. L., Scott, G., Svigos, J. M., Vigneswaren, R. &lt;strong&gt;Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III.&lt;/strong&gt; Am. J. Med. Genet. 33: 224-227, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2764032/&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;2764032&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320330216&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="2764032">Haan et al. (1989)</a> suggested that types I and III are the same entity because of similarities in the changes in the brain and in bone. <a href="#19" class="mim-tip-reference" title="Meinecke, P., Schaefer, E., Wiedemann, H.-R. &lt;strong&gt;Microcephalic osteodysplastic primordial dwarfism: further evidence for identity of the so-called types I and III. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 39: 232-236, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2063933/&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;2063933&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320390228&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="2063933">Meinecke et al. (1991)</a> gave further information on the patient reported by <a href="#26" class="mim-tip-reference" title="Wiedemann, H. R., Grosse, F. R., Dibbern, H. &lt;strong&gt;An Atlas of Characteristic Syndromes: A Visual Aid to Diagnosis.&lt;/strong&gt; Stuttgart: Wolfe Med. Publ. (pub.) 1982. P. 110."None>Wiedemann et al. (1982)</a>. The clinical and radiologic findings supported the hypothesis of <a href="#27" class="mim-tip-reference" title="Winter, R. M., Wigglesworth, J., Harding, B. N. &lt;strong&gt;Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III.&lt;/strong&gt; Am. J. Med. Genet. 21: 569-574, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4025388/&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;4025388&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320210318&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="4025388">Winter et al. (1985)</a> that types I and III are one disorder. <a href="#5" class="mim-tip-reference" title="Haan, E. A., Furness, M. E., Knowles, S., Morris, L. L., Scott, G., Svigos, J. M., Vigneswaren, R. &lt;strong&gt;Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III.&lt;/strong&gt; Am. J. Med. Genet. 33: 224-227, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2764032/&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;2764032&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320330216&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="2764032">Haan et al. (1989)</a> also suggested that this disorder is the same as that reported by <a href="#22" class="mim-tip-reference" title="Taybi, H., Linder, D. &lt;strong&gt;Congenital familial dwarfism with cephaloskeletal dysplasia.&lt;/strong&gt; Radiology 89: 275-281, 1967."None>Taybi and Linder (1967)</a> as cephaloskeletal dysplasia. The brain in the case of <a href="#5" class="mim-tip-reference" title="Haan, E. A., Furness, M. E., Knowles, S., Morris, L. L., Scott, G., Svigos, J. M., Vigneswaren, R. &lt;strong&gt;Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III.&lt;/strong&gt; Am. J. Med. Genet. 33: 224-227, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2764032/&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;2764032&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320330216&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="2764032">Haan et al. (1989)</a> showed agenesis of the corpus callosum and marked lissencephaly. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2063933+4025388+2764032" 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="#25" class="mim-tip-reference" title="Van Maldergem, L., Gillerot, Y., Godhaird, M., Nemec, E., Koulischer, L. &lt;strong&gt;Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance.&lt;/strong&gt; Clin. Genet. 38: 359-361, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2282715/&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;2282715&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1990.tb03595.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="2282715">Van Maldergem et al. (1990)</a> observed primordial osteodysplastic dwarfism type I in a newborn male born to Turkish first cousins. Corneal clouding was present. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2282715" 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="#18" class="mim-tip-reference" title="Meinecke, P., Passarge, E. &lt;strong&gt;Microcephalic osteodysplastic primordial dwarfism type I/III in sibs.&lt;/strong&gt; J. Med. Genet. 28: 795-800, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1770539/&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;1770539&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.28.11.795&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="1770539">Meinecke and Passarge (1991)</a> described a boy with microcephalic osteodysplastic primordial dwarfism I/III who survived to age 5.5 years and his more severely affected younger sister who died at the age of 6 months. Neuropathologic studies in the girl showed marked micrencephaly with severely hypoplastic, poorly gyrated frontal lobes, and absent corpus callosum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1770539" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Taybi, H., Linder, D. &lt;strong&gt;Congenital familial dwarfism with cephaloskeletal dysplasia.&lt;/strong&gt; Radiology 89: 275-281, 1967."None>Taybi and Linder (1967)</a> described brother and sister, of Italian extraction with first-cousin parents, who had low-birth-weight dwarfism, dysplasia of the osseous skeleton including the skull, and microcephaly. They died at ages 1 month and 1 year, respectively. Autopsy was done in both. Extensive malformation of the brain was present. <a href="#24" class="mim-tip-reference" title="Thomas, P. S., Nevin, N. C. &lt;strong&gt;Congenital familial dwarfism with cephalo-skeletal dysplasia (Taybi-Linder syndrome).&lt;/strong&gt; Ann. Radiol. 19: 187-192, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/984702/&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;984702&lt;/a&gt;]" pmid="984702">Thomas and Nevin (1976)</a> described the same disorder in 2 males who died in early infancy; their parents were normal and unrelated. <a href="#9" class="mim-tip-reference" title="Lavollay, B., Faure, C., Filipe, G., Branca, G., Huet de Barochez, Y. &lt;strong&gt;Nanisme familial congenital avec dysplasie cephalo-squelettique (syndrome de Taybi-Linder).&lt;/strong&gt; Arch. Franc. Pediat. 41: 57-60, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6721654/&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;6721654&lt;/a&gt;]" pmid="6721654">Lavollay et al. (1984)</a> described a single case thought to have the same disorder. Dwarfism, microcephaly, facial dysmorphism, and skeletal abnormalities with radiologic changes in the skull and many other bones were described. Severe cerebral atrophy with neurologic abnormality was responsible for death in the first year of life. <a href="#23" class="mim-tip-reference" title="Taybi, H. &lt;strong&gt;Microcephalic osteodysplastic primordial dwarfism and cephalo-skeletal dysplasia (Taybi-Linder syndrome). (Letter)&lt;/strong&gt; Am. J. Med. Genet. 43: 628 only, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1605263/&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;1605263&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430326&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="1605263">Taybi (1992)</a> called attention to the reports by <a href="#17" class="mim-tip-reference" title="Maroteaux, P., Badoual, J. &lt;strong&gt;La chondrodysplasie microcephalique subletale: syndrome de Taybi-Linder, nanisme microcephalique primordial de types I et III.&lt;/strong&gt; Arch. Franc. Pediat. 47: 103-106, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2327863/&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;2327863&lt;/a&gt;]" pmid="2327863">Maroteaux and Badoual (1990)</a> and others. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=984702+2327863+6721654+1605263" 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="Sigaudy, S., Toutain, A., Moncla, A., Fredouille, C., Bourliere, B., Ayme, S., Philip, N. &lt;strong&gt;Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 80: 16-24, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9800907/&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;9800907&lt;/a&gt;]" pmid="9800907">Sigaudy et al. (1998)</a> reported 4 new cases of microcephalic osteodysplastic primordial dwarfism I, or Taybi-Linder syndrome, and characterized the condition as including severe microcephalic dwarfism with short limbs and dislocated hips and elbows, skin abnormalities, and sparsity of hair and eyebrows. Malformations of the central nervous system, such as abnormalities of migration, heterotopias, partial or complete agenesis of the corpus callosum, hypoplastic frontal lobes, and vermis agenesis, had been reported. Radiologic abnormalities include retarded epiphyseal maturation, cleft vertebral arches, platyspondyly, horizontal acetabular roofs, and short long bones with enlarged metaphyses. Autosomal recessive inheritance had been suggested and was confirmed by the cases reported by <a href="#21" class="mim-tip-reference" title="Sigaudy, S., Toutain, A., Moncla, A., Fredouille, C., Bourliere, B., Ayme, S., Philip, N. &lt;strong&gt;Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 80: 16-24, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9800907/&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;9800907&lt;/a&gt;]" pmid="9800907">Sigaudy et al. (1998)</a>, as 2 were born to consanguineous unions and 2 were sibs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9800907" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="He, H., Liyanarachchi, S., Akagi, K., Nagy, R., Li, J., Dietrich, R. C., Li, W., Sebastian, N., Wen, B., Xin, B., Singh, J., Yan, P., and 10 others. &lt;strong&gt;Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I.&lt;/strong&gt; Science 332: 238-240, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21474760/&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;21474760&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.1200587&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="21474760">He et al. (2011)</a> studied 14 cases of MOPD1 in 9 nuclear families from the Ohio Amish population. The parents in all 9 nuclear families were related to each other and to the parents of the other families in multiple ways. The Amish MOPD1 phenotype consists of severe intrauterine growth retardation (mean -5.8 SD, range -3.3 to -7.9 SD), microcephaly, severe central nervous system neuronal migration abnormalities, absent or very sparse hair, dry and aged-appearing skin, facial dysmorphism, multiple joint contractures and dislocations, skeletal anomalies, and average life expectancy of 8.5 months (range 2.5 to 18 months). <a href="#6" class="mim-tip-reference" title="He, H., Liyanarachchi, S., Akagi, K., Nagy, R., Li, J., Dietrich, R. C., Li, W., Sebastian, N., Wen, B., Xin, B., Singh, J., Yan, P., and 10 others. &lt;strong&gt;Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I.&lt;/strong&gt; Science 332: 238-240, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21474760/&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;21474760&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.1200587&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="21474760">He et al. (2011)</a> also studied an Australian case from distantly related Maltese parents and 2 German cases from unrelated families, 1 a new case and 1 previously reported by <a href="#7" class="mim-tip-reference" title="Klinge, L., Schaper, J., Wieczorek, D., Voit, T. &lt;strong&gt;Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature.&lt;/strong&gt; Neuropediatrics 33: 309-313, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12571786/&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;12571786&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1055/s-2002-37086&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="12571786">Klinge et al. (2002)</a>. The phenotype of the Australian case was identical to the Ohio Amish phenotype. The 2 German cases shared basic similarities with the Amish phenotype except for a decreased degree of intrauterine growth retardation (-2.6 to -3.6 SD) and life expectancy (survival past 3 years). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21474760+12571786" 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="#4" class="mim-tip-reference" title="Edery, P., Marcaillou, C., Sahbatou, M., Labalme, A., Chastang, J., Touraine, R., Tubacher, E., Senni, F., Bober, M. B., Nampoothiri, S., Jouk, P.-S., Steichen, E., Berland, S., Toutain, A., Wise, C. A., Sanlaville, D., Rousseau, F., Clerget-Darpoux, F., Leutenegger, A.-L. &lt;strong&gt;Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.&lt;/strong&gt; Science 332: 240-243, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21474761/&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;21474761&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.1202205&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="21474761">Edery et al. (2011)</a> reported 8 families with MOPD1. Affected members from 5 of these families were homozygous for a 51G-A mutation in RNU4ATAC (<a href="/entry/601428#0001">601428.0001</a>). The first patient was a male born to first-cousin parents of Algerian origin. His face was round with ridged metopic suture, small anterior fontanel, sloping forehead, bulging eyes, small ears, small chin, and short neck. He had dry skin and sparse, thin hair. Limbs were short with brachydactyly. He had left cryptorchidism and micropenis. X-rays showed thick, bowed long bones and markedly delayed epiphyseal ossification. Cerebral MRI at 1 month of age showed brain hypoplasia, neuronal migration defects, arachnoid cyst, and agenesis of the anterior corpus callosum. He died unexpectedly at 11 months of age. His brother had similar brain abnormalities. All birth parameters were less than one-third percentile. He died unexpectedly at age 10 months. The child from the second family was born to first-cousin parents of Turkish origin. At 38 weeks' gestation, her birth weight was 1060 grams, length 31 cm, and head circumference 23.4 cm. Clinical examination and bone x-rays were typical of MOPD1. She had a unilateral polycystic dysplastic kidney and small ventricular septal defect. Brain ultrasound showed microlissencephaly and corpus callosum agenesis. After 1 year of age she suffered from recurrent unexplained episodes of fever and died of respiratory insufficiency at 14 months of age. The patient from the third family, previously described by <a href="#21" class="mim-tip-reference" title="Sigaudy, S., Toutain, A., Moncla, A., Fredouille, C., Bourliere, B., Ayme, S., Philip, N. &lt;strong&gt;Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 80: 16-24, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9800907/&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;9800907&lt;/a&gt;]" pmid="9800907">Sigaudy et al. (1998)</a>, presented with typical features of MOPD1. She died at 7 months during an infectious illness. Family 4 had 3 affected offspring, born to distantly related parents of Moroccan origin. The first child, a female, showed intrauterine growth retardation, microcephaly, and corpus callosum agenesis. X-rays showed typical MOPD1 features. Postnatal brain ultrasound showed abnormal gyration. She died at 13 months of age after gastroenteritis. Her sister had severe intrauterine growth retardation and typical MOPD1 dysmorphic features, limb anomalies, and bone x-rays. Brain MRI showed microcephaly, agenesis of the posterior corpus callosum, abnormal gyration with marked pachygyria of the frontal lobes, and mild hypoplasia of the cerebellar vermis. She died at 28 months of age. During the mother's third pregnancy, prenatal diagnosis confirmed a fetus with haplotypes similar to those of the previously affected children. The pregnancy was terminated. Autopsy showed a male fetus with microcephaly, enlarged neck, sloping forehead, anteverted nares, short and rounded philtrum, and micrognathia. The child from the fifth family, born of unrelated Indian parents, had oligohydramnios and severe intrauterine growth retardation observed at 20 weeks' gestation. Birth weight was 1300 grams. In addition to typical MOPDS1 features, he had bilateral preaxial polydactyly with bilateral hypoplastic thumbs. Bone anomalies included unilateral bifid first metacarpal. Brain MRI showed complete agenesis of corpus callosum, polymicrogyria, and colpocephaly. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9800907+21474761" 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="#20" class="mim-tip-reference" title="Pierce, M. J., Morse, R. P. &lt;strong&gt;The neurologic findings in Taybi-Linder syndrome (MOPD I/III): case report and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 158A: 606-610, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22302400/&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;22302400&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33958&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="22302400">Pierce and Morse (2012)</a> reported a sister and brother, born of unrelated Caucasian parents, with MOPD1. They had microcephaly, dysmorphic features, primordial dwarfism, and skeletal dysplasia consistent with the diagnosis. The patients had axial hypotonia with appendicular hypertonia and spasticity. Pale hypoplastic optic discs, poor visual function, and sensorineural hearing loss were also noted. In the first months of life, the patients developed progressively intractable seizures evolving to hypsarrhythmia. Each also showed endocrine abnormalities, such as central hypothyroidism, diabetes insipidus, and increased aldosteronism; the boy had hypogonadism. Brain imaging showed hypoplastic cerebrum, paucity of cortical gyri, pachygyria, periventricular heterotopia, thin corpus callosum, cerebellar hypoplasia, and delayed myelination. One patient had a sacral dimple and tethered cord. Both sibs had profound global developmental delay, and the girl died of respiratory failure at age 4 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22302400" 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>Microcephalic Osteodysplastic Primordial Dwarfism Type III</em></strong></p><p>
<a href="#15" class="mim-tip-reference" title="Majewski, F., Stoeckenius, M., Kemperdick, H. &lt;strong&gt;Studies of osteodysplastic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles--osteodysplastic primordial dwarfism type III.&lt;/strong&gt; Am. J. Med. Genet. 12: 37-42, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7201239/&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;7201239&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320120105&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="7201239">Majewski et al. (1982)</a> reported a male infant with a 'new' form of microcephalic primordial dwarfism, then called osteodysplastic bird-headed dwarfism. Features were intrauterine growth retardation (as in the other forms), alopecia, microcephaly, receding forehead and chin, large eyes, and large prominent nose. Radiologic examinations showed platyspondyly, 'dysplasia' of the pelvis, elongated clavicles, and enlarged proximal femora. The 'cause' was not clear. <a href="#15" class="mim-tip-reference" title="Majewski, F., Stoeckenius, M., Kemperdick, H. &lt;strong&gt;Studies of osteodysplastic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles--osteodysplastic primordial dwarfism type III.&lt;/strong&gt; Am. J. Med. Genet. 12: 37-42, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7201239/&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;7201239&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320120105&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="7201239">Majewski et al. (1982)</a> considered the pelvic and spinal anomalies in this patient to be different from those seen in Seckel syndrome and osteodysplastic primordial dwarfism types I and II, and proposed the designation 'osteodysplastic primordial dwarfism type III.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7201239" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Majewski, F. &lt;strong&gt;Caroline Crachami and the delineation of osteodysplastic primordial dwarfism type III, an autosomal recessive syndrome.&lt;/strong&gt; Am. J. Med. Genet. 44: 203-209, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1456293/&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;1456293&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320440217&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="1456293">Majewski (1992)</a> gave a full account of a brother and sister with osteodysplastic primordial dwarfism type III and concluded that the facial appearance in this disorder was quite different from that of Seckel syndrome and very similar to that presented in a portrait of Caroline Crachami, 'the Sicilian Fairy' (see HISTORY), reproduced as Figure 7 in <a href="#2" class="mim-tip-reference" title="Bondeson, J. &lt;strong&gt;Caroline Crachami, the Sicilian Fairy: a case of bird-headed dwarfism.&lt;/strong&gt; Am. J. Med. Genet. 44: 210-219, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1456294/&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;1456294&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320440218&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="1456294">Bondeson (1992)</a>. The profile was particularly distinctive. <a href="#3" class="mim-tip-reference" title="Bondeson, J. &lt;strong&gt;Caroline Crachami, the Sicilian Fairy: a further note.&lt;/strong&gt; Am. J. Med. Genet. 46: 471 only, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8357026/&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;8357026&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320460427&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="8357026">Bondeson (1993)</a> provided additional information based on a study of the original autopsy report of Caroline Crachami. He commented that although bird-headed dwarfism is 'an imprecise as well as an uncouth denomination,' it is the generally applied descriptive term. He also commented that the assertion of the patients of <a href="#16" class="mim-tip-reference" title="Majewski, F. &lt;strong&gt;Caroline Crachami and the delineation of osteodysplastic primordial dwarfism type III, an autosomal recessive syndrome.&lt;/strong&gt; Am. J. Med. Genet. 44: 203-209, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1456293/&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;1456293&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320440217&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="1456293">Majewski (1992)</a> and Caroline Crachami forming a separate syndrome 'would allow for considerable differences in intelligence, bodily incapacity and birth weight.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8357026+1456293+1456294" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Haan, E. A., Furness, M. E., Knowles, S., Morris, L. L., Scott, G., Svigos, J. M., Vigneswaren, R. &lt;strong&gt;Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III.&lt;/strong&gt; Am. J. Med. Genet. 33: 224-227, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2764032/&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;2764032&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320330216&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="2764032">Haan et al. (1989)</a> and <a href="#19" class="mim-tip-reference" title="Meinecke, P., Schaefer, E., Wiedemann, H.-R. &lt;strong&gt;Microcephalic osteodysplastic primordial dwarfism: further evidence for identity of the so-called types I and III. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 39: 232-236, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2063933/&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;2063933&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320390228&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="2063933">Meinecke et al. (1991)</a> raised the possibility that MOPD types I and III represent the same entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2063933+2764032" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="inheritance" class="mim-anchor"></a>
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<p>The transmission pattern of MOPD1 in the families reported by <a href="#4" class="mim-tip-reference" title="Edery, P., Marcaillou, C., Sahbatou, M., Labalme, A., Chastang, J., Touraine, R., Tubacher, E., Senni, F., Bober, M. B., Nampoothiri, S., Jouk, P.-S., Steichen, E., Berland, S., Toutain, A., Wise, C. A., Sanlaville, D., Rousseau, F., Clerget-Darpoux, F., Leutenegger, A.-L. &lt;strong&gt;Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.&lt;/strong&gt; Science 332: 240-243, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21474761/&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;21474761&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.1202205&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="21474761">Edery et al. (2011)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21474761" 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="#8" class="mim-tip-reference" title="Lander, E. S., Botstein, D. &lt;strong&gt;Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children.&lt;/strong&gt; Science 236: 1567-1570, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2884728/&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;2884728&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.2884728&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="2884728">Lander and Botstein (1987)</a> proposed a method, referred to as 'homozygosity mapping,' that consists of searching for a region of the genome that is autozygous in inbred individuals affected by a given disease. They showed that, to quantify the evidence of linkage provided by such a region, a lod score could be computed for the marker observations by comparing the likelihood of being at the disease locus with the likelihood of being at a random point on the genome. Calculation of the latter likelihood requires that, for each affected inbred individual, the chance of having 2 alleles identical by descent (IBD) at a locus randomly sampled on the individual's genome is known. By definition, the latter value is the individual's inbreeding coefficient (F). Efficient algorithms based on the known genealogy are available for computing F. However, information on genealogy may not be accurate or may even be lacking, especially for populations in which marriages between relatives are very frequent, making relationships very complex. <a href="#10" class="mim-tip-reference" title="Leutenegger, A.-L., Labalme, A., Genin, E., Toutain, A., Steichen, E., Clerget-Darpoux, F., Edery, P. &lt;strong&gt;Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 79: 62-66, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16773566/&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;16773566&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16773566[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/10.1086/504640&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="16773566">Leutenegger et al. (2006)</a> proposed to estimate F from each individual's genomic information as presented by <a href="#11" class="mim-tip-reference" title="Leutenegger, A.-L., Prum, B., Genin, E., Verny, C., Lemainque, A., Clerget-Darpoux, F., Thompson, E. A. &lt;strong&gt;Estimation of the inbreeding coefficient through use of genomic data.&lt;/strong&gt; Am. J. Hum. Genet. 73: 516-523, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12900793/&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;12900793&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12900793[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/10.1086/378207&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="12900793">Leutenegger et al. (2003)</a> and to use this genome F to control for parental relationships in the lod score computation. To perform linkage analysis when parental relationships are poorly known, they introduced a new homozygosity mapping statistic, FLOD. This statistic allowed the inclusion of inbred patients in homozygosity mapping without having any knowledge of their genealogy. <a href="#10" class="mim-tip-reference" title="Leutenegger, A.-L., Labalme, A., Genin, E., Toutain, A., Steichen, E., Clerget-Darpoux, F., Edery, P. &lt;strong&gt;Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 79: 62-66, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16773566/&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;16773566&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16773566[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/10.1086/504640&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="16773566">Leutenegger et al. (2006)</a> applied this approach to the study of 4 inbred Taybi-Linder syndrome patients, including 2 sibs, originating from the Mediterranean region: Algeria, Turkey, and Morocco. Application of these methods identified an autozygous candidate region on 2q14.2-q14.3. The work illustrated the mapping of a gene with the use of a single key patient with no genealogic information. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2884728+12900793+16773566" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="He, H., Liyanarachchi, S., Akagi, K., Nagy, R., Li, J., Dietrich, R. C., Li, W., Sebastian, N., Wen, B., Xin, B., Singh, J., Yan, P., and 10 others. &lt;strong&gt;Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I.&lt;/strong&gt; Science 332: 238-240, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21474760/&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;21474760&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.1200587&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="21474760">He et al. (2011)</a> used genomewide homozygosity mapping to map the MOPD1 phenotype to chromosome 2q14.2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21474760" 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="#4" class="mim-tip-reference" title="Edery, P., Marcaillou, C., Sahbatou, M., Labalme, A., Chastang, J., Touraine, R., Tubacher, E., Senni, F., Bober, M. B., Nampoothiri, S., Jouk, P.-S., Steichen, E., Berland, S., Toutain, A., Wise, C. A., Sanlaville, D., Rousseau, F., Clerget-Darpoux, F., Leutenegger, A.-L. &lt;strong&gt;Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.&lt;/strong&gt; Science 332: 240-243, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21474761/&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;21474761&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.1202205&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="21474761">Edery et al. (2011)</a> refined the interval identified by <a href="#10" class="mim-tip-reference" title="Leutenegger, A.-L., Labalme, A., Genin, E., Toutain, A., Steichen, E., Clerget-Darpoux, F., Edery, P. &lt;strong&gt;Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 79: 62-66, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16773566/&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;16773566&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16773566[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/10.1086/504640&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="16773566">Leutenegger et al. (2006)</a> to 3.19 Mb by genotyping additional unaffected members from the previously studied families and a new consanguineous Moroccan family. No common haplotype appeared to be shared by patients in these families, ruling out a single founding effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16773566+21474761" 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">
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>Molecular Genetics</strong>
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<p><a href="#6" class="mim-tip-reference" title="He, H., Liyanarachchi, S., Akagi, K., Nagy, R., Li, J., Dietrich, R. C., Li, W., Sebastian, N., Wen, B., Xin, B., Singh, J., Yan, P., and 10 others. &lt;strong&gt;Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I.&lt;/strong&gt; Science 332: 238-240, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21474760/&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;21474760&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.1200587&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="21474760">He et al. (2011)</a> identified 4 different mutations in the RNU4ATAC gene (<a href="/entry/601428#0001">601428.0001</a>-<a href="/entry/601428#0004">601428.0004</a>) resulting in MOPD1 in the Ohio Amish population, 2 German families, and 1 Australian family of Maltese descent. Functional assays showed that these mutations caused defective U12-dependent splicing. Endogenous U12-dependent but not U2-dependent introns were found to be poorly spliced in MOPD1 patient fibroblast cells. The introduction of wildtype U4atac and snRNA into MOPD1 cells enhanced U12-dependent splicing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21474760" 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="#4" class="mim-tip-reference" title="Edery, P., Marcaillou, C., Sahbatou, M., Labalme, A., Chastang, J., Touraine, R., Tubacher, E., Senni, F., Bober, M. B., Nampoothiri, S., Jouk, P.-S., Steichen, E., Berland, S., Toutain, A., Wise, C. A., Sanlaville, D., Rousseau, F., Clerget-Darpoux, F., Leutenegger, A.-L. &lt;strong&gt;Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.&lt;/strong&gt; Science 332: 240-243, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21474761/&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;21474761&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.1202205&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="21474761">Edery et al. (2011)</a> independently identified 4 mutations in the RNU4ATAC gene (<a href="/entry/601428#0001">601428.0001</a> and <a href="/entry/601428#0005">601428.0005</a>-<a href="/entry/601428#0007">601428.0007</a>) responsible for MOPD1. All mutations occurred in the 5-prime stem loop structure and affected the function of the minor spliceosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21474761" 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="#1" class="mim-tip-reference" title="Abdel-Salam, G. M. H., Abdel-Hamid, M. S., Issa, M., Magdy, A., El-Kotoury, A., Amr, K. &lt;strong&gt;Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.&lt;/strong&gt; Am. J. Med. Genet. 158A: 1455-1461, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22581640/&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;22581640&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.35356&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="22581640">Abdel-Salam et al. (2012)</a> reported 2 Yemeni sibs and an Egyptian boy with MOPD1 who were homozygous and compound heterozygous, respectively, for mutations in the RNU4ATAC gene (<a href="/entry/601428#0002">601428.0002</a> and <a href="/entry/601428#0008">601428.0008</a>-<a href="/entry/601428#0009">601428.0009</a>). The authors noted that the 3 patients had a relatively milder phenotype than previously reported MOPD1 patients: brain findings included metopic suture synostosis, a simplified gyral pattern, small corpus callosum, and reduced size of the frontal lobe, and their developmental milestones were only mildly delayed for age. The sibs died of encephalitis at 18 months and 34 months of age; the Egyptian boy had no history of repeated infections and was alive at 20 months of age. <a href="#1" class="mim-tip-reference" title="Abdel-Salam, G. M. H., Abdel-Hamid, M. S., Issa, M., Magdy, A., El-Kotoury, A., Amr, K. &lt;strong&gt;Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.&lt;/strong&gt; Am. J. Med. Genet. 158A: 1455-1461, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22581640/&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;22581640&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.35356&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="22581640">Abdel-Salam et al. (2012)</a> suggested that the MOPD1 phenotypic spectrum is wider than previously defined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22581640" 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>
<a id="nomenclature" class="mim-anchor"></a>
<h4 href="#mimNomenclatureFold" id="mimNomenclatureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimNomenclatureToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Nomenclature</strong>
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</h4>
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<div id="mimNomenclatureFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>Three types of osteodysplastic primordial dwarfism had been defined and distinguished from Seckel syndrome by <a href="#12" class="mim-tip-reference" title="Majewski, F., Goecke, T. &lt;strong&gt;Studies of osteodysplastic primordial dwarfism I: approach to a delineation of the Seckel syndrome.&lt;/strong&gt; Am. J. Med. Genet. 12: 7-21, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7046443/&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;7046443&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320120103&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="7046443">Majewski and Goecke (1982)</a> and Majewski et al. (<a href="#13" class="mim-tip-reference" title="Majewski, F., Ranke, M., Schinzel, A. &lt;strong&gt;Studies of osteodysplastic primordial dwarfism II: The osteodysplastic type II of primordial dwarfism.&lt;/strong&gt; Am. J. Med. Genet. 12: 23-35, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7201238/&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;7201238&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320120104&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="7201238">1982</a>, <a href="#15" class="mim-tip-reference" title="Majewski, F., Stoeckenius, M., Kemperdick, H. &lt;strong&gt;Studies of osteodysplastic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles--osteodysplastic primordial dwarfism type III.&lt;/strong&gt; Am. J. Med. Genet. 12: 37-42, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7201239/&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;7201239&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320120105&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="7201239">1982</a>). There is a consensus that the osteodysplastic primordial dwarfism types I and III of <a href="#12" class="mim-tip-reference" title="Majewski, F., Goecke, T. &lt;strong&gt;Studies of osteodysplastic primordial dwarfism I: approach to a delineation of the Seckel syndrome.&lt;/strong&gt; Am. J. Med. Genet. 12: 7-21, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7046443/&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;7046443&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320120103&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="7046443">Majewski and Goecke (1982)</a> and <a href="#15" class="mim-tip-reference" title="Majewski, F., Stoeckenius, M., Kemperdick, H. &lt;strong&gt;Studies of osteodysplastic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles--osteodysplastic primordial dwarfism type III.&lt;/strong&gt; Am. J. Med. Genet. 12: 37-42, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7201239/&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;7201239&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320120105&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="7201239">Majewski et al. (1982)</a> and Taybi-Linder cephaloskeletal dysplasia are variations of the same entity. <a href="#20" class="mim-tip-reference" title="Pierce, M. J., Morse, R. P. &lt;strong&gt;The neurologic findings in Taybi-Linder syndrome (MOPD I/III): case report and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 158A: 606-610, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22302400/&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;22302400&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33958&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="22302400">Pierce and Morse (2012)</a> stated that MOPD types I and III (MOPD I/III) are likely phenotypic variations of the same entity and have together become known as Taybi-Linder syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7201239+7201238+22302400+7046443" 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="history" class="mim-anchor"></a>
<h4 href="#mimHistoryFold" id="mimHistoryToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimHistoryToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>History</strong>
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<p><a href="#2" class="mim-tip-reference" title="Bondeson, J. &lt;strong&gt;Caroline Crachami, the Sicilian Fairy: a case of bird-headed dwarfism.&lt;/strong&gt; Am. J. Med. Genet. 44: 210-219, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1456294/&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;1456294&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320440218&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="1456294">Bondeson (1992)</a> gave a historical account of Caroline Crachami (1815-1824), the Sicilian Fairy, whose mounted skeleton is preserved in the Hunterian Museum of the Royal College of Surgeons in London. Her skeleton had been exhibited next to that of Charles Byrne, 'The Irish Giant' (see <a href="/entry/102200">102200</a>). <a href="#3" class="mim-tip-reference" title="Bondeson, J. &lt;strong&gt;Caroline Crachami, the Sicilian Fairy: a further note.&lt;/strong&gt; Am. J. Med. Genet. 46: 471 only, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8357026/&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;8357026&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320460427&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="8357026">Bondeson (1993)</a> provided additional information based on a study of the original autopsy report of Caroline Crachami. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8357026+1456294" 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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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
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<a id="Abdel-Salam2012" class="mim-anchor"></a>
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Abdel-Salam, G. M. H., Abdel-Hamid, M. S., Issa, M., Magdy, A., El-Kotoury, A., Amr, K.
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[<a href="https://doi.org/10.1002/ajmg.a.35356" target="_blank">Full Text</a>]
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<li>
<a id="2" class="mim-anchor"></a>
<a id="Bondeson1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bondeson, J.
<strong>Caroline Crachami, the Sicilian Fairy: a case of bird-headed dwarfism.</strong>
Am. J. Med. Genet. 44: 210-219, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1456294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1456294</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1456294" 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.1320440218" target="_blank">Full Text</a>]
</p>
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<a id="3" class="mim-anchor"></a>
<a id="Bondeson1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bondeson, J.
<strong>Caroline Crachami, the Sicilian Fairy: a further note.</strong>
Am. J. Med. Genet. 46: 471 only, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8357026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8357026</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8357026" 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.1320460427" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
<a id="Edery2011" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Edery, P., Marcaillou, C., Sahbatou, M., Labalme, A., Chastang, J., Touraine, R., Tubacher, E., Senni, F., Bober, M. B., Nampoothiri, S., Jouk, P.-S., Steichen, E., Berland, S., Toutain, A., Wise, C. A., Sanlaville, D., Rousseau, F., Clerget-Darpoux, F., Leutenegger, A.-L.
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[<a href="https://doi.org/10.1126/science.1202205" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
<a id="Haan1989" class="mim-anchor"></a>
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Haan, E. A., Furness, M. E., Knowles, S., Morris, L. L., Scott, G., Svigos, J. M., Vigneswaren, R.
<strong>Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III.</strong>
Am. J. Med. Genet. 33: 224-227, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2764032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2764032</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2764032" 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.1320330216" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
<a id="He2011" class="mim-anchor"></a>
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He, H., Liyanarachchi, S., Akagi, K., Nagy, R., Li, J., Dietrich, R. C., Li, W., Sebastian, N., Wen, B., Xin, B., Singh, J., Yan, P., and 10 others.
<strong>Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I.</strong>
Science 332: 238-240, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21474760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21474760</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21474760" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1126/science.1200587" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
<a id="Klinge2002" class="mim-anchor"></a>
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<p class="mim-text-font">
Klinge, L., Schaper, J., Wieczorek, D., Voit, T.
<strong>Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature.</strong>
Neuropediatrics 33: 309-313, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12571786/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12571786</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12571786" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1055/s-2002-37086" target="_blank">Full Text</a>]
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<a id="Lander1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lander, E. S., Botstein, D.
<strong>Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children.</strong>
Science 236: 1567-1570, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2884728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2884728</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2884728" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1126/science.2884728" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
<a id="Lavollay1984" class="mim-anchor"></a>
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<p class="mim-text-font">
Lavollay, B., Faure, C., Filipe, G., Branca, G., Huet de Barochez, Y.
<strong>Nanisme familial congenital avec dysplasie cephalo-squelettique (syndrome de Taybi-Linder).</strong>
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<a id="10" class="mim-anchor"></a>
<a id="Leutenegger2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Leutenegger, A.-L., Labalme, A., Genin, E., Toutain, A., Steichen, E., Clerget-Darpoux, F., Edery, P.
<strong>Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.</strong>
Am. J. Hum. Genet. 79: 62-66, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16773566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16773566</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16773566[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=16773566" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/504640" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
<a id="Leutenegger2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Leutenegger, A.-L., Prum, B., Genin, E., Verny, C., Lemainque, A., Clerget-Darpoux, F., Thompson, E. A.
<strong>Estimation of the inbreeding coefficient through use of genomic data.</strong>
Am. J. Hum. Genet. 73: 516-523, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12900793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12900793</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12900793[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=12900793" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/378207" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
<a id="Majewski1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Majewski, F., Goecke, T.
<strong>Studies of osteodysplastic primordial dwarfism I: approach to a delineation of the Seckel syndrome.</strong>
Am. J. Med. Genet. 12: 7-21, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7046443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7046443</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7046443" 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.1320120103" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
<a id="Majewski1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Majewski, F., Ranke, M., Schinzel, A.
<strong>Studies of osteodysplastic primordial dwarfism II: The osteodysplastic type II of primordial dwarfism.</strong>
Am. J. Med. Genet. 12: 23-35, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7201238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7201238</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7201238" 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.1320120104" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
<a id="Majewski1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Majewski, F., Spranger, J.
<strong>Ueber einen neuen Typ des primordialen Minderwuchses: der brachymele primordiale Minderwuchs.</strong>
Mschr. Kinderheilk. 124: 499-503, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/934161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">934161</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=934161" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="15" class="mim-anchor"></a>
<a id="Majewski1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Majewski, F., Stoeckenius, M., Kemperdick, H.
<strong>Studies of osteodysplastic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles--osteodysplastic primordial dwarfism type III.</strong>
Am. J. Med. Genet. 12: 37-42, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7201239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7201239</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7201239" 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.1320120105" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
<a id="Majewski1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Majewski, F.
<strong>Caroline Crachami and the delineation of osteodysplastic primordial dwarfism type III, an autosomal recessive syndrome.</strong>
Am. J. Med. Genet. 44: 203-209, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1456293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1456293</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1456293" 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.1320440217" target="_blank">Full Text</a>]
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<a id="Maroteaux1990" class="mim-anchor"></a>
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Maroteaux, P., Badoual, J.
<strong>La chondrodysplasie microcephalique subletale: syndrome de Taybi-Linder, nanisme microcephalique primordial de types I et III.</strong>
Arch. Franc. Pediat. 47: 103-106, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2327863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2327863</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2327863" 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="Meinecke1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Meinecke, P., Passarge, E.
<strong>Microcephalic osteodysplastic primordial dwarfism type I/III in sibs.</strong>
J. Med. Genet. 28: 795-800, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1770539/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1770539</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1770539" 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.28.11.795" target="_blank">Full Text</a>]
</p>
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<a id="19" class="mim-anchor"></a>
<a id="Meinecke1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Meinecke, P., Schaefer, E., Wiedemann, H.-R.
<strong>Microcephalic osteodysplastic primordial dwarfism: further evidence for identity of the so-called types I and III. (Letter)</strong>
Am. J. Med. Genet. 39: 232-236, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2063933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2063933</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2063933" 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.1320390228" target="_blank">Full Text</a>]
</p>
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<a id="Pierce2012" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pierce, M. J., Morse, R. P.
<strong>The neurologic findings in Taybi-Linder syndrome (MOPD I/III): case report and review of the literature.</strong>
Am. J. Med. Genet. 158A: 606-610, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22302400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22302400</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22302400" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.33958" target="_blank">Full Text</a>]
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<a id="21" class="mim-anchor"></a>
<a id="Sigaudy1998" class="mim-anchor"></a>
<div class="">
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Sigaudy, S., Toutain, A., Moncla, A., Fredouille, C., Bourliere, B., Ayme, S., Philip, N.
<strong>Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.</strong>
Am. J. Med. Genet. 80: 16-24, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9800907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9800907</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9800907" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="22" class="mim-anchor"></a>
<a id="Taybi1967" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Taybi, H., Linder, D.
<strong>Congenital familial dwarfism with cephaloskeletal dysplasia.</strong>
Radiology 89: 275-281, 1967.
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<a id="23" class="mim-anchor"></a>
<a id="Taybi1992" class="mim-anchor"></a>
<div class="">
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Taybi, H.
<strong>Microcephalic osteodysplastic primordial dwarfism and cephalo-skeletal dysplasia (Taybi-Linder syndrome). (Letter)</strong>
Am. J. Med. Genet. 43: 628 only, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1605263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1605263</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1605263" 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.1320430326" target="_blank">Full Text</a>]
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<a id="24" class="mim-anchor"></a>
<a id="Thomas1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Thomas, P. S., Nevin, N. C.
<strong>Congenital familial dwarfism with cephalo-skeletal dysplasia (Taybi-Linder syndrome).</strong>
Ann. Radiol. 19: 187-192, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/984702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">984702</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=984702" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="25" class="mim-anchor"></a>
<a id="Van Maldergem1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Van Maldergem, L., Gillerot, Y., Godhaird, M., Nemec, E., Koulischer, L.
<strong>Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance.</strong>
Clin. Genet. 38: 359-361, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2282715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2282715</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2282715" 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.1399-0004.1990.tb03595.x" target="_blank">Full Text</a>]
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<a id="26" class="mim-anchor"></a>
<a id="Wiedemann1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wiedemann, H. R., Grosse, F. R., Dibbern, H.
<strong>An Atlas of Characteristic Syndromes: A Visual Aid to Diagnosis.</strong>
Stuttgart: Wolfe Med. Publ. (pub.) 1982. P. 110.
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<a id="27" class="mim-anchor"></a>
<a id="Winter1985" class="mim-anchor"></a>
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Winter, R. M., Wigglesworth, J., Harding, B. N.
<strong>Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III.</strong>
Am. J. Med. Genet. 21: 569-574, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4025388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4025388</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4025388" 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.1320210318" target="_blank">Full Text</a>]
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<span class="mim-text-font">
Cassandra L. Kniffin - updated : 6/9/2014
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Marla J. F. O'Neill - updated : 11/2/2012<br>Ada Hamosh - updated : 4/22/2011<br>Victor A. McKusick - updated : 6/13/2006<br>Ada Hamosh - updated : 11/16/1998
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Victor A. McKusick : 6/3/1986
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alopez : 05/08/2024
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alopez : 05/08/2024<br>alopez : 02/06/2024<br>mgross : 01/17/2023<br>alopez : 09/11/2020<br>carol : 04/28/2017<br>alopez : 10/13/2016<br>alopez : 06/11/2014<br>mcolton : 6/10/2014<br>ckniffin : 6/9/2014<br>carol : 11/2/2012<br>terry : 11/2/2012<br>carol : 3/29/2012<br>carol : 10/20/2011<br>alopez : 4/27/2011<br>alopez : 4/26/2011<br>terry : 4/22/2011<br>terry : 4/30/2010<br>alopez : 6/15/2006<br>terry : 6/13/2006<br>joanna : 3/6/2006<br>mgross : 3/17/2004<br>alopez : 11/19/1998<br>alopez : 11/17/1998<br>alopez : 11/16/1998<br>alopez : 11/16/1998<br>alopez : 11/16/1998<br>joanna : 6/20/1997<br>terry : 4/26/1994<br>warfield : 3/8/1994<br>mimadm : 2/19/1994<br>carol : 11/18/1992<br>supermim : 3/16/1992<br>carol : 1/2/1992
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<h3>
<span class="mim-font">
<strong>#</strong> 210710
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<h3>
<span class="mim-font">
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1
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<em>Alternative titles; symbols</em>
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MOPD I; MOPD<br />
TAYBI-LINDER SYNDROME; TALS<br />
OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I<br />
BRACHYMELIC PRIMORDIAL DWARFISM<br />
CEPHALOSKELETAL DYSPLASIA<br />
LOW-BIRTH-WEIGHT DWARFISM WITH SKELETAL DYSPLASIA<br />
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III<br />
MOPD III; MOPD3<br />
OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III<br />
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE I/III<br />
MOPD I/III<br />
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, CAROLINE CRACHAMI TYPE<br />
MOPD, CAROLINE CRACHAMI TYPE<br />
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE<br />
MOPD, SICILIAN FAIRY TYPE
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<strong>SNOMEDCT:</strong> 254102008; &nbsp;
<strong>ORPHA:</strong> 2636; &nbsp;
<strong>DO:</strong> 0060608; &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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<span class="mim-font">
2q14.2
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<span class="mim-font">
Microcephalic osteodysplastic primordial dwarfism, type I
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210710
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Autosomal recessive
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3
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RNU4ATAC
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601428
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because microcephalic osteodysplastic primordial dwarfism type I (MOPD1), or Taybi-Linder syndrome, is caused by homozygous or compound heterozygous mutation in the RNU4ATAC gene (601428), encoding a small nuclear RNA (snRNA) component of the U12 (RNU12; 620204)-dependent (minor) spliceosome, on chromosome 2q14.</p>
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<strong>Description</strong>
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<p>Microcephalic osteodysplastic primordial dwarfism type I (MOPD1) is a severe autosomal recessive skeletal dysplasia characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular/auditory sensory deficits. Patients often die in early childhood (summary by Pierce and Morse, 2012). </p>
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<strong>Clinical Features</strong>
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<p>Majewski and Spranger (1976) described a form of brachymelic primordial dwarfism that resembled Seckel syndrome (see 210600) except for abnormal body proportions and short limbs; Seckel syndrome patients have normal proportions. The pelvis was low, broad, and 'dysplastic' with lack of formation of the acetabulum. The humeri and femora were short, bowed, and broad with rather unremarkable metaphyses. </p><p>Haan et al. (1989) reported a case with features similar to those described for both type I and type III osteodysplastic primordial dwarfism. The case resembled that reported by Winter et al. (1985) and one pictured by Wiedemann et al. (1982). In light of these 3 cases, Haan et al. (1989) suggested that types I and III are the same entity because of similarities in the changes in the brain and in bone. Meinecke et al. (1991) gave further information on the patient reported by Wiedemann et al. (1982). The clinical and radiologic findings supported the hypothesis of Winter et al. (1985) that types I and III are one disorder. Haan et al. (1989) also suggested that this disorder is the same as that reported by Taybi and Linder (1967) as cephaloskeletal dysplasia. The brain in the case of Haan et al. (1989) showed agenesis of the corpus callosum and marked lissencephaly. </p><p>Van Maldergem et al. (1990) observed primordial osteodysplastic dwarfism type I in a newborn male born to Turkish first cousins. Corneal clouding was present. </p><p>Meinecke and Passarge (1991) described a boy with microcephalic osteodysplastic primordial dwarfism I/III who survived to age 5.5 years and his more severely affected younger sister who died at the age of 6 months. Neuropathologic studies in the girl showed marked micrencephaly with severely hypoplastic, poorly gyrated frontal lobes, and absent corpus callosum. </p><p>Taybi and Linder (1967) described brother and sister, of Italian extraction with first-cousin parents, who had low-birth-weight dwarfism, dysplasia of the osseous skeleton including the skull, and microcephaly. They died at ages 1 month and 1 year, respectively. Autopsy was done in both. Extensive malformation of the brain was present. Thomas and Nevin (1976) described the same disorder in 2 males who died in early infancy; their parents were normal and unrelated. Lavollay et al. (1984) described a single case thought to have the same disorder. Dwarfism, microcephaly, facial dysmorphism, and skeletal abnormalities with radiologic changes in the skull and many other bones were described. Severe cerebral atrophy with neurologic abnormality was responsible for death in the first year of life. Taybi (1992) called attention to the reports by Maroteaux and Badoual (1990) and others. </p><p>Sigaudy et al. (1998) reported 4 new cases of microcephalic osteodysplastic primordial dwarfism I, or Taybi-Linder syndrome, and characterized the condition as including severe microcephalic dwarfism with short limbs and dislocated hips and elbows, skin abnormalities, and sparsity of hair and eyebrows. Malformations of the central nervous system, such as abnormalities of migration, heterotopias, partial or complete agenesis of the corpus callosum, hypoplastic frontal lobes, and vermis agenesis, had been reported. Radiologic abnormalities include retarded epiphyseal maturation, cleft vertebral arches, platyspondyly, horizontal acetabular roofs, and short long bones with enlarged metaphyses. Autosomal recessive inheritance had been suggested and was confirmed by the cases reported by Sigaudy et al. (1998), as 2 were born to consanguineous unions and 2 were sibs. </p><p>He et al. (2011) studied 14 cases of MOPD1 in 9 nuclear families from the Ohio Amish population. The parents in all 9 nuclear families were related to each other and to the parents of the other families in multiple ways. The Amish MOPD1 phenotype consists of severe intrauterine growth retardation (mean -5.8 SD, range -3.3 to -7.9 SD), microcephaly, severe central nervous system neuronal migration abnormalities, absent or very sparse hair, dry and aged-appearing skin, facial dysmorphism, multiple joint contractures and dislocations, skeletal anomalies, and average life expectancy of 8.5 months (range 2.5 to 18 months). He et al. (2011) also studied an Australian case from distantly related Maltese parents and 2 German cases from unrelated families, 1 a new case and 1 previously reported by Klinge et al. (2002). The phenotype of the Australian case was identical to the Ohio Amish phenotype. The 2 German cases shared basic similarities with the Amish phenotype except for a decreased degree of intrauterine growth retardation (-2.6 to -3.6 SD) and life expectancy (survival past 3 years). </p><p>Edery et al. (2011) reported 8 families with MOPD1. Affected members from 5 of these families were homozygous for a 51G-A mutation in RNU4ATAC (601428.0001). The first patient was a male born to first-cousin parents of Algerian origin. His face was round with ridged metopic suture, small anterior fontanel, sloping forehead, bulging eyes, small ears, small chin, and short neck. He had dry skin and sparse, thin hair. Limbs were short with brachydactyly. He had left cryptorchidism and micropenis. X-rays showed thick, bowed long bones and markedly delayed epiphyseal ossification. Cerebral MRI at 1 month of age showed brain hypoplasia, neuronal migration defects, arachnoid cyst, and agenesis of the anterior corpus callosum. He died unexpectedly at 11 months of age. His brother had similar brain abnormalities. All birth parameters were less than one-third percentile. He died unexpectedly at age 10 months. The child from the second family was born to first-cousin parents of Turkish origin. At 38 weeks' gestation, her birth weight was 1060 grams, length 31 cm, and head circumference 23.4 cm. Clinical examination and bone x-rays were typical of MOPD1. She had a unilateral polycystic dysplastic kidney and small ventricular septal defect. Brain ultrasound showed microlissencephaly and corpus callosum agenesis. After 1 year of age she suffered from recurrent unexplained episodes of fever and died of respiratory insufficiency at 14 months of age. The patient from the third family, previously described by Sigaudy et al. (1998), presented with typical features of MOPD1. She died at 7 months during an infectious illness. Family 4 had 3 affected offspring, born to distantly related parents of Moroccan origin. The first child, a female, showed intrauterine growth retardation, microcephaly, and corpus callosum agenesis. X-rays showed typical MOPD1 features. Postnatal brain ultrasound showed abnormal gyration. She died at 13 months of age after gastroenteritis. Her sister had severe intrauterine growth retardation and typical MOPD1 dysmorphic features, limb anomalies, and bone x-rays. Brain MRI showed microcephaly, agenesis of the posterior corpus callosum, abnormal gyration with marked pachygyria of the frontal lobes, and mild hypoplasia of the cerebellar vermis. She died at 28 months of age. During the mother's third pregnancy, prenatal diagnosis confirmed a fetus with haplotypes similar to those of the previously affected children. The pregnancy was terminated. Autopsy showed a male fetus with microcephaly, enlarged neck, sloping forehead, anteverted nares, short and rounded philtrum, and micrognathia. The child from the fifth family, born of unrelated Indian parents, had oligohydramnios and severe intrauterine growth retardation observed at 20 weeks' gestation. Birth weight was 1300 grams. In addition to typical MOPDS1 features, he had bilateral preaxial polydactyly with bilateral hypoplastic thumbs. Bone anomalies included unilateral bifid first metacarpal. Brain MRI showed complete agenesis of corpus callosum, polymicrogyria, and colpocephaly. </p><p>Pierce and Morse (2012) reported a sister and brother, born of unrelated Caucasian parents, with MOPD1. They had microcephaly, dysmorphic features, primordial dwarfism, and skeletal dysplasia consistent with the diagnosis. The patients had axial hypotonia with appendicular hypertonia and spasticity. Pale hypoplastic optic discs, poor visual function, and sensorineural hearing loss were also noted. In the first months of life, the patients developed progressively intractable seizures evolving to hypsarrhythmia. Each also showed endocrine abnormalities, such as central hypothyroidism, diabetes insipidus, and increased aldosteronism; the boy had hypogonadism. Brain imaging showed hypoplastic cerebrum, paucity of cortical gyri, pachygyria, periventricular heterotopia, thin corpus callosum, cerebellar hypoplasia, and delayed myelination. One patient had a sacral dimple and tethered cord. Both sibs had profound global developmental delay, and the girl died of respiratory failure at age 4 years. </p><p><strong><em>Microcephalic Osteodysplastic Primordial Dwarfism Type III</em></strong></p><p>
Majewski et al. (1982) reported a male infant with a 'new' form of microcephalic primordial dwarfism, then called osteodysplastic bird-headed dwarfism. Features were intrauterine growth retardation (as in the other forms), alopecia, microcephaly, receding forehead and chin, large eyes, and large prominent nose. Radiologic examinations showed platyspondyly, 'dysplasia' of the pelvis, elongated clavicles, and enlarged proximal femora. The 'cause' was not clear. Majewski et al. (1982) considered the pelvic and spinal anomalies in this patient to be different from those seen in Seckel syndrome and osteodysplastic primordial dwarfism types I and II, and proposed the designation 'osteodysplastic primordial dwarfism type III.' </p><p>Majewski (1992) gave a full account of a brother and sister with osteodysplastic primordial dwarfism type III and concluded that the facial appearance in this disorder was quite different from that of Seckel syndrome and very similar to that presented in a portrait of Caroline Crachami, 'the Sicilian Fairy' (see HISTORY), reproduced as Figure 7 in Bondeson (1992). The profile was particularly distinctive. Bondeson (1993) provided additional information based on a study of the original autopsy report of Caroline Crachami. He commented that although bird-headed dwarfism is 'an imprecise as well as an uncouth denomination,' it is the generally applied descriptive term. He also commented that the assertion of the patients of Majewski (1992) and Caroline Crachami forming a separate syndrome 'would allow for considerable differences in intelligence, bodily incapacity and birth weight.' </p><p>Haan et al. (1989) and Meinecke et al. (1991) raised the possibility that MOPD types I and III represent the same entity. </p>
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<h4>
<span class="mim-font">
<strong>Inheritance</strong>
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<span class="mim-text-font">
<p>The transmission pattern of MOPD1 in the families reported by Edery et al. (2011) was consistent with autosomal recessive inheritance. </p>
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<h4>
<span class="mim-font">
<strong>Mapping</strong>
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<span class="mim-text-font">
<p>Lander and Botstein (1987) proposed a method, referred to as 'homozygosity mapping,' that consists of searching for a region of the genome that is autozygous in inbred individuals affected by a given disease. They showed that, to quantify the evidence of linkage provided by such a region, a lod score could be computed for the marker observations by comparing the likelihood of being at the disease locus with the likelihood of being at a random point on the genome. Calculation of the latter likelihood requires that, for each affected inbred individual, the chance of having 2 alleles identical by descent (IBD) at a locus randomly sampled on the individual's genome is known. By definition, the latter value is the individual's inbreeding coefficient (F). Efficient algorithms based on the known genealogy are available for computing F. However, information on genealogy may not be accurate or may even be lacking, especially for populations in which marriages between relatives are very frequent, making relationships very complex. Leutenegger et al. (2006) proposed to estimate F from each individual's genomic information as presented by Leutenegger et al. (2003) and to use this genome F to control for parental relationships in the lod score computation. To perform linkage analysis when parental relationships are poorly known, they introduced a new homozygosity mapping statistic, FLOD. This statistic allowed the inclusion of inbred patients in homozygosity mapping without having any knowledge of their genealogy. Leutenegger et al. (2006) applied this approach to the study of 4 inbred Taybi-Linder syndrome patients, including 2 sibs, originating from the Mediterranean region: Algeria, Turkey, and Morocco. Application of these methods identified an autozygous candidate region on 2q14.2-q14.3. The work illustrated the mapping of a gene with the use of a single key patient with no genealogic information. </p><p>He et al. (2011) used genomewide homozygosity mapping to map the MOPD1 phenotype to chromosome 2q14.2. </p><p>Edery et al. (2011) refined the interval identified by Leutenegger et al. (2006) to 3.19 Mb by genotyping additional unaffected members from the previously studied families and a new consanguineous Moroccan family. No common haplotype appeared to be shared by patients in these families, ruling out a single founding effect. </p>
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<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
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</div>
<span class="mim-text-font">
<p>He et al. (2011) identified 4 different mutations in the RNU4ATAC gene (601428.0001-601428.0004) resulting in MOPD1 in the Ohio Amish population, 2 German families, and 1 Australian family of Maltese descent. Functional assays showed that these mutations caused defective U12-dependent splicing. Endogenous U12-dependent but not U2-dependent introns were found to be poorly spliced in MOPD1 patient fibroblast cells. The introduction of wildtype U4atac and snRNA into MOPD1 cells enhanced U12-dependent splicing. </p><p>Edery et al. (2011) independently identified 4 mutations in the RNU4ATAC gene (601428.0001 and 601428.0005-601428.0007) responsible for MOPD1. All mutations occurred in the 5-prime stem loop structure and affected the function of the minor spliceosome. </p><p>Abdel-Salam et al. (2012) reported 2 Yemeni sibs and an Egyptian boy with MOPD1 who were homozygous and compound heterozygous, respectively, for mutations in the RNU4ATAC gene (601428.0002 and 601428.0008-601428.0009). The authors noted that the 3 patients had a relatively milder phenotype than previously reported MOPD1 patients: brain findings included metopic suture synostosis, a simplified gyral pattern, small corpus callosum, and reduced size of the frontal lobe, and their developmental milestones were only mildly delayed for age. The sibs died of encephalitis at 18 months and 34 months of age; the Egyptian boy had no history of repeated infections and was alive at 20 months of age. Abdel-Salam et al. (2012) suggested that the MOPD1 phenotypic spectrum is wider than previously defined. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Nomenclature</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Three types of osteodysplastic primordial dwarfism had been defined and distinguished from Seckel syndrome by Majewski and Goecke (1982) and Majewski et al. (1982, 1982). There is a consensus that the osteodysplastic primordial dwarfism types I and III of Majewski and Goecke (1982) and Majewski et al. (1982) and Taybi-Linder cephaloskeletal dysplasia are variations of the same entity. Pierce and Morse (2012) stated that MOPD types I and III (MOPD I/III) are likely phenotypic variations of the same entity and have together become known as Taybi-Linder syndrome. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Bondeson (1992) gave a historical account of Caroline Crachami (1815-1824), the Sicilian Fairy, whose mounted skeleton is preserved in the Hunterian Museum of the Royal College of Surgeons in London. Her skeleton had been exhibited next to that of Charles Byrne, 'The Irish Giant' (see 102200). Bondeson (1993) provided additional information based on a study of the original autopsy report of Caroline Crachami. </p>
</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">
Abdel-Salam, G. M. H., Abdel-Hamid, M. S., Issa, M., Magdy, A., El-Kotoury, A., Amr, K.
<strong>Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.</strong>
Am. J. Med. Genet. 158A: 1455-1461, 2012.
[PubMed: 22581640]
[Full Text: https://doi.org/10.1002/ajmg.a.35356]
</p>
</li>
<li>
<p class="mim-text-font">
Bondeson, J.
<strong>Caroline Crachami, the Sicilian Fairy: a case of bird-headed dwarfism.</strong>
Am. J. Med. Genet. 44: 210-219, 1992.
[PubMed: 1456294]
[Full Text: https://doi.org/10.1002/ajmg.1320440218]
</p>
</li>
<li>
<p class="mim-text-font">
Bondeson, J.
<strong>Caroline Crachami, the Sicilian Fairy: a further note.</strong>
Am. J. Med. Genet. 46: 471 only, 1993.
[PubMed: 8357026]
[Full Text: https://doi.org/10.1002/ajmg.1320460427]
</p>
</li>
<li>
<p class="mim-text-font">
Edery, P., Marcaillou, C., Sahbatou, M., Labalme, A., Chastang, J., Touraine, R., Tubacher, E., Senni, F., Bober, M. B., Nampoothiri, S., Jouk, P.-S., Steichen, E., Berland, S., Toutain, A., Wise, C. A., Sanlaville, D., Rousseau, F., Clerget-Darpoux, F., Leutenegger, A.-L.
<strong>Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.</strong>
Science 332: 240-243, 2011.
[PubMed: 21474761]
[Full Text: https://doi.org/10.1126/science.1202205]
</p>
</li>
<li>
<p class="mim-text-font">
Haan, E. A., Furness, M. E., Knowles, S., Morris, L. L., Scott, G., Svigos, J. M., Vigneswaren, R.
<strong>Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III.</strong>
Am. J. Med. Genet. 33: 224-227, 1989.
[PubMed: 2764032]
[Full Text: https://doi.org/10.1002/ajmg.1320330216]
</p>
</li>
<li>
<p class="mim-text-font">
He, H., Liyanarachchi, S., Akagi, K., Nagy, R., Li, J., Dietrich, R. C., Li, W., Sebastian, N., Wen, B., Xin, B., Singh, J., Yan, P., and 10 others.
<strong>Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I.</strong>
Science 332: 238-240, 2011.
[PubMed: 21474760]
[Full Text: https://doi.org/10.1126/science.1200587]
</p>
</li>
<li>
<p class="mim-text-font">
Klinge, L., Schaper, J., Wieczorek, D., Voit, T.
<strong>Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature.</strong>
Neuropediatrics 33: 309-313, 2002.
[PubMed: 12571786]
[Full Text: https://doi.org/10.1055/s-2002-37086]
</p>
</li>
<li>
<p class="mim-text-font">
Lander, E. S., Botstein, D.
<strong>Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children.</strong>
Science 236: 1567-1570, 1987.
[PubMed: 2884728]
[Full Text: https://doi.org/10.1126/science.2884728]
</p>
</li>
<li>
<p class="mim-text-font">
Lavollay, B., Faure, C., Filipe, G., Branca, G., Huet de Barochez, Y.
<strong>Nanisme familial congenital avec dysplasie cephalo-squelettique (syndrome de Taybi-Linder).</strong>
Arch. Franc. Pediat. 41: 57-60, 1984.
[PubMed: 6721654]
</p>
</li>
<li>
<p class="mim-text-font">
Leutenegger, A.-L., Labalme, A., Genin, E., Toutain, A., Steichen, E., Clerget-Darpoux, F., Edery, P.
<strong>Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.</strong>
Am. J. Hum. Genet. 79: 62-66, 2006.
[PubMed: 16773566]
[Full Text: https://doi.org/10.1086/504640]
</p>
</li>
<li>
<p class="mim-text-font">
Leutenegger, A.-L., Prum, B., Genin, E., Verny, C., Lemainque, A., Clerget-Darpoux, F., Thompson, E. A.
<strong>Estimation of the inbreeding coefficient through use of genomic data.</strong>
Am. J. Hum. Genet. 73: 516-523, 2003.
[PubMed: 12900793]
[Full Text: https://doi.org/10.1086/378207]
</p>
</li>
<li>
<p class="mim-text-font">
Majewski, F., Goecke, T.
<strong>Studies of osteodysplastic primordial dwarfism I: approach to a delineation of the Seckel syndrome.</strong>
Am. J. Med. Genet. 12: 7-21, 1982.
[PubMed: 7046443]
[Full Text: https://doi.org/10.1002/ajmg.1320120103]
</p>
</li>
<li>
<p class="mim-text-font">
Majewski, F., Ranke, M., Schinzel, A.
<strong>Studies of osteodysplastic primordial dwarfism II: The osteodysplastic type II of primordial dwarfism.</strong>
Am. J. Med. Genet. 12: 23-35, 1982.
[PubMed: 7201238]
[Full Text: https://doi.org/10.1002/ajmg.1320120104]
</p>
</li>
<li>
<p class="mim-text-font">
Majewski, F., Spranger, J.
<strong>Ueber einen neuen Typ des primordialen Minderwuchses: der brachymele primordiale Minderwuchs.</strong>
Mschr. Kinderheilk. 124: 499-503, 1976.
[PubMed: 934161]
</p>
</li>
<li>
<p class="mim-text-font">
Majewski, F., Stoeckenius, M., Kemperdick, H.
<strong>Studies of osteodysplastic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles--osteodysplastic primordial dwarfism type III.</strong>
Am. J. Med. Genet. 12: 37-42, 1982.
[PubMed: 7201239]
[Full Text: https://doi.org/10.1002/ajmg.1320120105]
</p>
</li>
<li>
<p class="mim-text-font">
Majewski, F.
<strong>Caroline Crachami and the delineation of osteodysplastic primordial dwarfism type III, an autosomal recessive syndrome.</strong>
Am. J. Med. Genet. 44: 203-209, 1992.
[PubMed: 1456293]
[Full Text: https://doi.org/10.1002/ajmg.1320440217]
</p>
</li>
<li>
<p class="mim-text-font">
Maroteaux, P., Badoual, J.
<strong>La chondrodysplasie microcephalique subletale: syndrome de Taybi-Linder, nanisme microcephalique primordial de types I et III.</strong>
Arch. Franc. Pediat. 47: 103-106, 1990.
[PubMed: 2327863]
</p>
</li>
<li>
<p class="mim-text-font">
Meinecke, P., Passarge, E.
<strong>Microcephalic osteodysplastic primordial dwarfism type I/III in sibs.</strong>
J. Med. Genet. 28: 795-800, 1991.
[PubMed: 1770539]
[Full Text: https://doi.org/10.1136/jmg.28.11.795]
</p>
</li>
<li>
<p class="mim-text-font">
Meinecke, P., Schaefer, E., Wiedemann, H.-R.
<strong>Microcephalic osteodysplastic primordial dwarfism: further evidence for identity of the so-called types I and III. (Letter)</strong>
Am. J. Med. Genet. 39: 232-236, 1991.
[PubMed: 2063933]
[Full Text: https://doi.org/10.1002/ajmg.1320390228]
</p>
</li>
<li>
<p class="mim-text-font">
Pierce, M. J., Morse, R. P.
<strong>The neurologic findings in Taybi-Linder syndrome (MOPD I/III): case report and review of the literature.</strong>
Am. J. Med. Genet. 158A: 606-610, 2012.
[PubMed: 22302400]
[Full Text: https://doi.org/10.1002/ajmg.a.33958]
</p>
</li>
<li>
<p class="mim-text-font">
Sigaudy, S., Toutain, A., Moncla, A., Fredouille, C., Bourliere, B., Ayme, S., Philip, N.
<strong>Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.</strong>
Am. J. Med. Genet. 80: 16-24, 1998.
[PubMed: 9800907]
</p>
</li>
<li>
<p class="mim-text-font">
Taybi, H., Linder, D.
<strong>Congenital familial dwarfism with cephaloskeletal dysplasia.</strong>
Radiology 89: 275-281, 1967.
</p>
</li>
<li>
<p class="mim-text-font">
Taybi, H.
<strong>Microcephalic osteodysplastic primordial dwarfism and cephalo-skeletal dysplasia (Taybi-Linder syndrome). (Letter)</strong>
Am. J. Med. Genet. 43: 628 only, 1992.
[PubMed: 1605263]
[Full Text: https://doi.org/10.1002/ajmg.1320430326]
</p>
</li>
<li>
<p class="mim-text-font">
Thomas, P. S., Nevin, N. C.
<strong>Congenital familial dwarfism with cephalo-skeletal dysplasia (Taybi-Linder syndrome).</strong>
Ann. Radiol. 19: 187-192, 1976.
[PubMed: 984702]
</p>
</li>
<li>
<p class="mim-text-font">
Van Maldergem, L., Gillerot, Y., Godhaird, M., Nemec, E., Koulischer, L.
<strong>Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance.</strong>
Clin. Genet. 38: 359-361, 1990.
[PubMed: 2282715]
[Full Text: https://doi.org/10.1111/j.1399-0004.1990.tb03595.x]
</p>
</li>
<li>
<p class="mim-text-font">
Wiedemann, H. R., Grosse, F. R., Dibbern, H.
<strong>An Atlas of Characteristic Syndromes: A Visual Aid to Diagnosis.</strong>
Stuttgart: Wolfe Med. Publ. (pub.) 1982. P. 110.
</p>
</li>
<li>
<p class="mim-text-font">
Winter, R. M., Wigglesworth, J., Harding, B. N.
<strong>Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III.</strong>
Am. J. Med. Genet. 21: 569-574, 1985.
[PubMed: 4025388]
[Full Text: https://doi.org/10.1002/ajmg.1320210318]
</p>
</li>
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