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<title>
Entry
- #613091 - SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3
- OMIM
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<span class="h4">#613091</span>
<br />
<strong>Table of Contents</strong>
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<li role="presentation">
<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
</li>
<li role="presentation">
<a href="/clinicalSynopsis/613091"><strong>Clinical Synopsis</strong></a>
</li>
<li role="presentation">
<a href="/phenotypicSeries/PS208500"> <strong>Phenotypic Series</strong> </a>
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<li role="presentation">
<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
<a href="#description">Description</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#diagnosis">Diagnosis</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
<a href="#references"><strong>References</strong></a>
</li>
<li role="presentation">
<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
<a href="#creationDate"><strong>Creation Date</strong></a>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=283&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Jeune syndrome&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12212&Typ=Pat" title="Short rib-polydactyly syndrome, Majewski type" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Short rib-polydactyly synd…&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12213&Typ=Pat" title="Short rib-polydactyly syndrome, Saldino-Noonan type" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Short rib-polydactyly synd…&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12214&Typ=Pat" title="Short rib-polydactyly syndrome, Verma-Naumoff type" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Short rib-polydactyly synd…&nbsp;</a></div>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 254051008, 726032008<br />
<strong>ORPHA:</strong> 474, 93269, 93270, 93271<br />
<strong>DO:</strong> 0110087<br />
">ICD+</a>
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
613091
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<h3>
<span class="mim-font">
SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3
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<em>Alternative titles; symbols</em>
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<h4>
<span class="mim-font">
ASPHYXIATING THORACIC DYSTROPHY 3; ATD3<br />
SHORT RIB-POLYDACTYLY SYNDROME, TYPE I; SRPS1<br />
SALDINO-NOONAN SYNDROME<br />
POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I<br />
SHORT RIB-POLYDACTYLY SYNDROME, TYPE III; SRPS3<br />
VERMA-NAUMOFF SYNDROME<br />
POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE III<br />
SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB; SRPS2B
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</h4>
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<br />
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<h4>
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<strong>Phenotype-Gene Relationships</strong>
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<thead>
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<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/11/876?start=-3&limit=10&highlight=876">
11q22.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Short-rib thoracic dysplasia 3 with or without polydactyly
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613091"> 613091 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic recessive">DR</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">
DYNC2H1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603297"> 603297 </a>
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</td>
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<span class="h5 mim-font">
<strong> INHERITANCE </strong>
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<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 /> -
Digenic recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865278&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865278</a>]</span><br />
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<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
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<span class="h5 mim-font">
<em> Height </em>
</span>
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<div style="margin-left: 2em;">
<span class="mim-font">
- Short stature (in childhood) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/735643002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">735643002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674444&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674444</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</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> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cleft lip/palate (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/66948001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">66948001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q37" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q37</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35-Q37" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35-Q37</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q37.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q37.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.20</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158646&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158646</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000202" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000202</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000202" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000202</a>]</span><br /> -
Lingual hamartoma (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253753005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253753005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431565&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431565</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011802" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011802</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011802" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011802</a>]</span><br /> -
Bifid tongue (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84557007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84557007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266111&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266111</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010297</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010297</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=e3a43c0460882ea4e399a6fbfea7ce4c" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Tongue,Bifid-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=e3a43c0460882ea4e399a6fbfea7ce4c&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">
- Transposition of the great vessels (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26146002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26146002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q20.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q20.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/745.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040761&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040761</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001669" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001669</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Respiratory problems due to small thorax <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3808278&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3808278</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Lung </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Abnormal lung lobulation (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3554493&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3554493</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> External Features </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small thorax <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298709006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298709006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0575483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575483</a>, <a href="https://bioportal.bioontology.org/search?q=C1837482&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837482</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005257</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005257</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ribs Sternum Clavicles & Scapulae </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Shortened ribs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3808263&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3808263</a>]</span><br /> -
Horizontally oriented ribs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3554488&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3554488</a>]</span><br /> -
Handlebar clavicles <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249684000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249684000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426805&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426805</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000895" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000895</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">
- Biliary dysplasia (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/308861002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">308861002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0586358&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0586358</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Pancreas </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cystic pancreas (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3808265&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3808265</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Intestinal malrotation (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48641006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48641006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29980002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29980002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253789002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253789002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221210&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221210</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002566" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002566</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002566" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002566</a>]</span><br /> -
Anal atresia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204712000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204712000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q42.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q42.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003466&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003466</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002023</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002023</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Micropenis (in some patients) <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 /> -
Ambiguous genitalia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/21321009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">21321009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q56.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q56.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000062" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000062</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000062" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000062</a>]</span><br /> -
Cloacal developmental abnormalities (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3808262&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3808262</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">
- Enlarged kidneys <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/300444006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">300444006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0542518&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0542518</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000105" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000105</a>]</span><br /> -
Dysplastic kidneys <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204949001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204949001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q61.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q61.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/753.15" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">753.15</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3536714&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3536714</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000110" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000110</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000110" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000110</a>]</span><br /> -
Polycystic kidneys <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/82525005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">82525005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q61.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q61.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/753.12" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">753.12</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1567435&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1567435</a>, <a href="https://bioportal.bioontology.org/search?q=C0022680&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022680</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000113" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000113</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000113" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000113</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Pelvis </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small ilia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863378</a>]</span><br /> -
Acetabular spurs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3808270&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3808270</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010454" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010454</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010454" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010454</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">
- Shortened long bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854912&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854912</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003026" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003026</a>]</span><br /> -
Shortened femurs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5234915&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5234915</a>]</span><br /> -
Bowed femurs <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> <span class="mim-feature-ids hidden">[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 /> -
Widened metaphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849039&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849039</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003016" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003016</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003016" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003016</a>]</span><br /> -
Metaphyseal spurs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1832988&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832988</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005054" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005054</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005054" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005054</a>]</span><br /> -
Tibial agenesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/79177001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">79177001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275346000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275346000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1003515004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1003515004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265633&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265633</a>]</span><br /> -
Hypoplastic ulna (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860614&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860614</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003022" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003022</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003022" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003022</a>]</span><br /> -
Hypoplastic fibula (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1832119&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832119</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003038" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003038</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003038" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003038</a>]</span><br /> -
Ovoid tibia, shorter than the fibula (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806517&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806517</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 /> -
Cone-shaped epiphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865037&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865037</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010579" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010579</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010579" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010579</a>]</span><br /> -
Postaxial polydactyly (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0220697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220697</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</a>]</span><br /> -
Polysyndactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84598000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84598000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265553&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265553</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">
- Polysyndactyly (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84598000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84598000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265553&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265553</a>]</span><br /> -
Preaxial polydactyly (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205135003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205135003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0345354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345354</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100258" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100258</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100258" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100258</a>]</span><br /> -
Postaxial polydactyly (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0220697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220697</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</a>]</span><br /> -
Club feet (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397932003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397932003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156475005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156475005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.89</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cerebellar cyst (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847762&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847762</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002350" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002350</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002350" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002350</a>]</span><br /> -
Corpus callosum agenesis (rare) <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 />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Defect in retrograde intraflagellar transport in cilia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3808277&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3808277</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Variable severity, even within families<br /> -
Thoracic abnormalities tend to improve with age<br /> -
Very low occurrence of retinal, hepatic, pancreatic, and renal anomalies<br /> -
Digenic form caused by heterozygous mutations in both NEK1 (<a href="/entry/604588">604588</a>) and DYN2CH1 (<a href="/entry/603297">603297</a>)<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the dynein, cytoplasmic 2, heavy chain 1 gene (DYNC2H1, <a href="/entry/603297#0001">603297.0001</a>)<br /> -
Caused by simultaneous heterozygous mutation in both the never in mitosis gene A-related kinase 1 gene (NEK1, <a href="/entry/604588#0003">604588.0003</a>) and the dynein, cytoplasmic-2, heavy chain-1 gene (DYN2CH1, <a href="/entry/603297#0016">603297.0016</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Short-rib thoracic dysplasia
- <a href="/phenotypicSeries/PS208500">PS208500</a>
- 23 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/71?start=-3&limit=10&highlight=71"> 2p24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614091"> Short-rib thoracic dysplasia 7 with or without polydactyly </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614091"> 614091 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613602"> WDR35 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613602"> 613602 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/139?start=-3&limit=10&highlight=139"> 2p23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615630"> Short-rib thoracic dysplasia 10 with or without polydactyly </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615630"> 615630 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607386"> IFT172 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607386"> 607386 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/217?start=-3&limit=10&highlight=217"> 2p21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617088"> Short-rib thoracic dysplasia 15 with polydactyly </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617088"> 617088 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617083"> DYNC2LI1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617083"> 617083 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/739?start=-3&limit=10&highlight=739"> 2q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613819"> Short-rib thoracic dysplasia 4 with or without polydactyly </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613819"> 613819 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612014"> TTC21B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612014"> 612014 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/823?start=-3&limit=10&highlight=823"> 3q25.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611263"> Short-rib thoracic dysplasia 2 with or without polydactyly </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611263"> 611263 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611177"> IFT80 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611177"> 611177 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/994?start=-3&limit=10&highlight=994"> 3q29 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617405"> Short-rib thoracic dysplasia 17 with or without polydactyly </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617405"> 617405 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617353"> DYNLT2B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617353"> 617353 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/65?start=-3&limit=10&highlight=65"> 4p16.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/225500"> Ellis-van Creveld syndrome </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/225500"> 225500 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607261"> EVC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607261"> 607261 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/66?start=-3&limit=10&highlight=66"> 4p16.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/225500"> Ellis-van Creveld syndrome </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/225500"> 225500 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604831"> EVC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604831"> 604831 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/157?start=-3&limit=10&highlight=157"> 4p14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614376"> Short-rib thoracic dysplasia 5 with or without polydactyly </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614376"> 614376 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608151"> WDR19 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608151"> 608151 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/544?start=-3&limit=10&highlight=544"> 4q28.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617925"> ?Short-rib thoracic dysplasia 20 with polydactyly </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617925"> 617925 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610621"> INTU </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610621"> 610621 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/666?start=-3&limit=10&highlight=666"> 4q33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/263520"> Short-rib thoracic dysplasia 6 with or without polydactyly </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic recessive">DR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/263520"> 263520 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604588"> NEK1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604588"> 604588 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/402?start=-3&limit=10&highlight=402"> 5q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616300"> Short-rib thoracic dysplasia 13 with or without polydactyly </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616300"> 616300 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613446"> CEP120 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613446"> 613446 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/866?start=-3&limit=10&highlight=866"> 7q36.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615503"> Short-rib thoracic dysplasia 8 with or without polydactyly </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615503"> 615503 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615462"> WDR60 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615462"> 615462 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/549?start=-3&limit=10&highlight=549"> 9q34.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615633"> Short-rib thoracic dysplasia 11 with or without polydactyly </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615633"> 615633 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613363"> WDR34 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613363"> 613363 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/876?start=-3&limit=10&highlight=876"> 11q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613091"> Short-rib thoracic dysplasia 3 with or without polydactyly </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic recessive">DR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613091"> 613091 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603297"> DYNC2H1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603297"> 603297 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/798?start=-3&limit=10&highlight=798"> 12q24.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617895"> Short-rib thoracic dysplasia 19 with or without polydactyly </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617895"> 617895 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605489"> IFT81 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605489"> 605489 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/276?start=-3&limit=10&highlight=276"> 14q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616546"> Short-rib thoracic dysplasia 14 with polydactyly </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616546"> 616546 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610178"> KIAA0586 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610178"> 610178 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/406?start=-3&limit=10&highlight=406"> 14q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617866"> Short-rib thoracic dysplasia 18 with polydactyly </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617866"> 617866 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614068"> IFT43 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614068"> 614068 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/44?start=-3&limit=10&highlight=44"> 15q13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/208500"> Short-rib thoracic dysplasia 1 with or without polydactyly </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/208500"> 208500 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/208500"> SRTD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/208500"> 208500 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/67?start=-3&limit=10&highlight=67"> 16p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/266920"> Short-rib thoracic dysplasia 9 with or without polydactyly </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/266920"> 266920 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614620"> IFT140 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614620"> 614620 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/121?start=-3&limit=10&highlight=121"> 17p13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619479"> Short-rib thoracic dysplasia 21 without polydactyly </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619479"> 619479 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617112"> KIAA0753 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617112"> 617112 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/306?start=-3&limit=10&highlight=306"> 20q13.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617102"> Short-rib thoracic dysplasia 16 with or without polydactyly </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617102"> 617102 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617094"> IFT52 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617094"> 617094 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Not Mapped
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/269860"> Short-rib thoracic dysplasia 12 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/269860"> 269860 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/269860"> SRTD12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/269860"> 269860 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
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</span>
</h4>
<div id="mimTextFold" class="collapse in ">
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that short-rib thoracic dysplasia-3 with or without polydactyly (SRTD3) is caused by homozygous or compound heterozygous mutation in the DYNC2H1 gene (<a href="/entry/603297">603297</a>) on chromosome 11q22. There is also evidence that SRTD can be caused by digenic biallelic mutation in the DYNC2H1 and NEK1 (<a href="/entry/604588">604588</a>) genes.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="description" class="mim-anchor"></a>
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
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<div id="mimDescriptionFold" class="collapse in ">
<span class="mim-text-font">
<p>Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by <a href="#7" class="mim-tip-reference" title="Huber, C., Cormier-Daire, V. &lt;strong&gt;Ciliary disorder of the skeleton.&lt;/strong&gt; Am. J. Med. Genet. 160C: 165-174, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22791528/&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;22791528&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.c.31336&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="22791528">Huber and Cormier-Daire, 2012</a> and <a href="#21" class="mim-tip-reference" title="Schmidts, M., Vodopiutz, J., Christou-Savina, S., Cortes, C. R., McInerney-Leo, A. M., Emes, R. D., Arts, H. H., Tuysuz, B., D&#x27;Silva, J., Leo, P. J., Giles, T. C., Oud, M. M., and 23 others. &lt;strong&gt;Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.&lt;/strong&gt; Am. J. Hum. Genet. 93: 932-944, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24183451/&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;24183451&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=24183451[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2013.10.003&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="24183451">Schmidts et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24183451+22791528" 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>There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, <a href="/entry/218330">218330</a>).</p><p>For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (<a href="/entry/208500">208500</a>).</p>
</span>
<div>
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</div>
<div>
<a id="clinicalFeatures" class="mim-anchor"></a>
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#18" class="mim-tip-reference" title="Saldino, R. M., Noonan, C. D. &lt;strong&gt;Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral abnormalities.&lt;/strong&gt; Am. J. Roentgen. Radium Ther. Nucl. Med. 114: 257-263, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5058513/&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;5058513&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.2214/ajr.114.2.257&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="5058513">Saldino and Noonan (1972)</a> described 2 stillborn female sibs and an unrelated stillborn infant who had severe thoracic dystrophy, micromelia, hypoplastic long bones, and multiple internal congenital anomalies. Postaxial polydactyly in 1 sib was present in 3 extremities, with 6 fingers on the right hand and 7 on the left, and 6 toes on the left foot; her sib had 7 rudimentary fingers of the hands, with nail beds but no nails, and both feet had 5 rudimentary toes without nail beds. Their limbs were severely shortened and flipper-like, with striking metaphyseal dysplasia of tubular bones. Ossification was defective in the calvaria, vertebrae, pelvis, and bones of the hands and feet. The tubular bones were short, with marked metaphyseal irregularities. <a href="#18" class="mim-tip-reference" title="Saldino, R. M., Noonan, C. D. &lt;strong&gt;Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral abnormalities.&lt;/strong&gt; Am. J. Roentgen. Radium Ther. Nucl. Med. 114: 257-263, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5058513/&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;5058513&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.2214/ajr.114.2.257&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="5058513">Saldino and Noonan (1972)</a> noted that in these patients the pelvis resembled that of patients with a diagnosis of Ellis-van Creveld syndrome or asphyxiating thoracic dystrophy, with small ilia and osseous spurs projecting medially and laterally from the acetabular roofs. In addition, the sibs exhibited polycystic kidneys, transposition of great vessels, and atretic lesions of the gastrointestinal and genitourinary systems. <a href="#18" class="mim-tip-reference" title="Saldino, R. M., Noonan, C. D. &lt;strong&gt;Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral abnormalities.&lt;/strong&gt; Am. J. Roentgen. Radium Ther. Nucl. Med. 114: 257-263, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5058513/&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;5058513&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.2214/ajr.114.2.257&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="5058513">Saldino and Noonan (1972)</a> suggested that this was a 'new' malformation syndrome (SRPS I) similar to EVC and ATD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5058513" 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="#17" class="mim-tip-reference" title="Richardson, M. M., Beaudet, A. L., Wagner, M. L., Malini, S., Rosenberg, H. S., Lucci, J. A., Jr. &lt;strong&gt;Prenatal diagnosis of recurrence of Saldino-Noonan dwarfism.&lt;/strong&gt; J. Pediat. 91: 467-471, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/894422/&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;894422&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(77)81327-9&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="894422">Richardson et al. (1977)</a> described affected sibs with a phenotype similar to that of the sibs described by <a href="#18" class="mim-tip-reference" title="Saldino, R. M., Noonan, C. D. &lt;strong&gt;Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral abnormalities.&lt;/strong&gt; Am. J. Roentgen. Radium Ther. Nucl. Med. 114: 257-263, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5058513/&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;5058513&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.2214/ajr.114.2.257&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="5058513">Saldino and Noonan (1972)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5058513+894422" 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="#28" class="mim-tip-reference" title="Verma, I. C., Bhargava, S., Agarwal, S. &lt;strong&gt;An autosomal recessive form of lethal chondrodystrophy with severe thoracic narrowing, rhizoacromelic type of micromelia, polydactyly and genital anomalies.&lt;/strong&gt; Birth Defects Orig. Art. Ser. XI(6): 167-174, 1975."None>Verma et al. (1975)</a> reported a consanguineous family in which 6 of 9 conceptions had a short-limbed lethal dwarfism manifesting as a severe thoracic dystrophy, rhizoacromelic type of micromelia, postaxial polydactyly, and genital anomalies in the males. <a href="#28" class="mim-tip-reference" title="Verma, I. C., Bhargava, S., Agarwal, S. &lt;strong&gt;An autosomal recessive form of lethal chondrodystrophy with severe thoracic narrowing, rhizoacromelic type of micromelia, polydactyly and genital anomalies.&lt;/strong&gt; Birth Defects Orig. Art. Ser. XI(6): 167-174, 1975."None>Verma et al. (1975)</a> suggested that the disorder in these sibs represented a distinct entity similar to the disorder reported by <a href="#18" class="mim-tip-reference" title="Saldino, R. M., Noonan, C. D. &lt;strong&gt;Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral abnormalities.&lt;/strong&gt; Am. J. Roentgen. Radium Ther. Nucl. Med. 114: 257-263, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5058513/&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;5058513&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.2214/ajr.114.2.257&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="5058513">Saldino and Noonan (1972)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5058513" 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="#15" class="mim-tip-reference" title="Naumoff, P., Young, L. W., Mazer, J., Amortegui, A. J. &lt;strong&gt;Short-rib-polydactyly syndrome type III.&lt;/strong&gt; Radiology 122: 443-447, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/834893/&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;834893&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1148/122.2.443&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="834893">Naumoff et al. (1977)</a> described what they considered to be a novel form of short rib-polydactyly syndrome (SRPS III) in 3 patients who died perinatally of asphyxia due to thoracic narrowing and found 3 possibly identical cases in the literature. Their patients 1 and 2 were brother and sister. They suggested that the disorder reported by <a href="#28" class="mim-tip-reference" title="Verma, I. C., Bhargava, S., Agarwal, S. &lt;strong&gt;An autosomal recessive form of lethal chondrodystrophy with severe thoracic narrowing, rhizoacromelic type of micromelia, polydactyly and genital anomalies.&lt;/strong&gt; Birth Defects Orig. Art. Ser. XI(6): 167-174, 1975."None>Verma et al. (1975)</a> may be the same as that in their patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=834893" 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="#31" class="mim-tip-reference" title="Yang, S. S., Lin, C.-S., Al Saadi, A., Nangia, B. S., Bernstein, J. &lt;strong&gt;Short rib-polydactyly syndrome, type 3 with chondrocytic inclusions: report of a case and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 7: 205-213, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7468648/&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;7468648&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320070213&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="7468648">Yang et al. (1980)</a> reported a case of SRPS III with previously undescribed cytoplasmic inclusion bodies that were PAS-positive and diastase-resistant. They found that cloacal developmental abnormalities, which are invariably present in patients with SRPS I, are rare in SRPS III (1 in 13 cases). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7468648" 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="Sillence, D. O. &lt;strong&gt;Non-Majewski short rib-polydactyly syndrome. (Editorial)&lt;/strong&gt; Am. J. Med. Genet. 7: 223-229, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7468650/&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;7468650&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320070215&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="7468650">Sillence (1980)</a> suggested that the claimed differences between SRPS types II and III are probably due to variability and not to heterogeneity, a view in which <a href="#24" class="mim-tip-reference" title="Spranger, J. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Mainz, Germany 11/24/1981."None>Spranger (1981)</a> concurred. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7468650" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bernstein, R., Isdale, J., Pinto, M., Zaaijman, J. T., Jenkins, T. &lt;strong&gt;Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.&lt;/strong&gt; J. Med. Genet. 22: 46-53, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3981580/&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;3981580&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.22.1.46&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="3981580">Bernstein et al. (1985)</a> presented 4 cases of short rib-polydactyly syndrome from 3 nonconsanguineous families. The findings were most consistent with type III. They raised the question of allelism of the 3 types, being particularly impressed with the phenotypic overlap of SRPS I and SRPS III. All 4 of their cases showed anomalous sexual development. In spite of testicular differentiation in all 4 and a 46,XY karyotype in the 2 on whom chromosome studies were done, 2 infants were phenotypically female and 2 had ambiguous genitalia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3981580" 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>Through the Spanish collaborative study of congenital malformations, <a href="#11" class="mim-tip-reference" title="Martinez-Frias, M.-L., Bermejo, E., Urioste, M., Huertas, H., Arroyo, I. &lt;strong&gt;Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum.&lt;/strong&gt; J. Med. Genet. 30: 937-941, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8301649/&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;8301649&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.30.11.937&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8301649">Martinez-Frias et al. (1993)</a> identified 2 unrelated infants with short rib-polydactyly syndrome and clinical/radiologic features overlapping the 4 established forms of lethal SRPS. One of the infants had one of the most radiologically severe SRPS published to date. <a href="#11" class="mim-tip-reference" title="Martinez-Frias, M.-L., Bermejo, E., Urioste, M., Huertas, H., Arroyo, I. &lt;strong&gt;Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum.&lt;/strong&gt; J. Med. Genet. 30: 937-941, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8301649/&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;8301649&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.30.11.937&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8301649">Martinez-Frias et al. (1993)</a> raised again the question of whether this group of disorders represents a continuous spectrum rather than separate entities. <a href="#19" class="mim-tip-reference" title="Sarafoglou, K., Funai, E. F., Fefferman, N., Zajac, L., Geneiser, N., Paidas, M. J., Greco, A., Wallerstein, R. &lt;strong&gt;Short rib-polydactyly syndrome: more evidence of a continuous spectrum.&lt;/strong&gt; Clin. Genet. 56: 145-148, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10517252/&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;10517252&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1034/j.1399-0004.1999.560209.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="10517252">Sarafoglou et al. (1999)</a> also reported a fetus with radiologic features of the 4 established types, supporting the hypothesis that the different subtypes are not single entities, but part of a continuous spectrum with variable expressivity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10517252+8301649" 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="#29" class="mim-tip-reference" title="Wu, M.-H., Kuo, P.-L., Lin, S.-J. &lt;strong&gt;Prenatal diagnosis of recurrence of short rib-polydactyly syndrome.&lt;/strong&gt; Am. J. Med. Genet. 55: 279-284, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7726223/&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;7726223&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320550307&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="7726223">Wu et al. (1995)</a> described a family in which 3 consecutive conceptions resulted in 4 infants with short rib-polydactyly syndrome. One was a twin conception. The condition was identified in the second and third pregnancies by prenatal ultrasound studies. Flat face, hypoplastic thorax, short limbs and ribs, polydactyly, absence of penis, and death soon after birth were noted in the first affected male baby. The affected female twins had the same characteristics, though milder. The last male baby was also severely affected, suggesting that chromosomal sex may be a modifying factor. <a href="#29" class="mim-tip-reference" title="Wu, M.-H., Kuo, P.-L., Lin, S.-J. &lt;strong&gt;Prenatal diagnosis of recurrence of short rib-polydactyly syndrome.&lt;/strong&gt; Am. J. Med. Genet. 55: 279-284, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7726223/&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;7726223&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320550307&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="7726223">Wu et al. (1995)</a> suggested that the first and fourth cases most resembled SRPS III, whereas the twins resembled the type described by <a href="#10" class="mim-tip-reference" title="Marec, B. L., Passarge, E., Dellenbach, P., Kerisit, J., Signargout, J., Ferrand, B., Senecal, J. &lt;strong&gt;Les formes neonatales lethales de la dysplasie chondro-ectodermique.&lt;/strong&gt; Ann. Radiol. 16: 19-26, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4734687/&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;4734687&lt;/a&gt;]" pmid="4734687">Marec et al. (1973)</a> (SRPS I) in 2 pairs of sibs. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7726223+4734687" 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>From clinicopathologic investigation of 8 patients with asphyxiating thoracic dystrophy, <a href="#30" class="mim-tip-reference" title="Yang, S. S., Langer, L. O., Jr., Cacciarelli, A., Dahms, B. B., Unger, E. R., Roskamp, J., Dinno, N. D., Chen, H. &lt;strong&gt;Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study.&lt;/strong&gt; Am. J. Med. Genet. Suppl. 3: 191-207, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3130854/&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;3130854&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320280523&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="3130854">Yang et al. (1987)</a> suggested the existence of 2 types of ATD: type 1 was characterized by the presence of radiologically irregular metaphyseal ends and histopathologic ally irregular cartilage-bone junction with patchy distribution of the physeal zone of hypertrophy; type 2 showed radiologically smooth metaphyseal ends and histopathologically diffusely retarded and disorganized physes with smooth cartilage-bone junctions. The authors were impressed with the similarities between type 1 ATD and short rib-polydactyly syndrome type III. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3130854" 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="Ho, N. C., Francomano, C. A., van Allen, M. &lt;strong&gt;Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder.&lt;/strong&gt; Am. J. Med. Genet. 90: 310-314, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10710229/&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;10710229&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(20000214)90:4&lt;310::aid-ajmg9&gt;3.0.co;2-n&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="10710229">Ho et al. (2000)</a> reported a family with 2 brothers affected with mild Jeune syndrome, and a stillborn male infant, the product of a marriage between the paternal first cousin and a maternal aunt of the 2 boys, with lethal SRPS type III. The authors suggested that these conditions may be variants of a single disorder. They proposed that the intrafamilial variability may reflect the effects of modifying loci on gene expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10710229" 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>Through a study to identify the molecular basis of asphyxiating thoracic dystrophy and short rib-polydactyly syndrome type III, <a href="#3" class="mim-tip-reference" title="Dagoneau, N., Goulet, M., Genevieve, D., Sznajer, Y., Martinovic, J., Smithson, S., Huber, C., Baujat, G., Flori, E., Tecco, L., Cavalcanti, D., Delezoide, A.-L., Serre, V., Le Merrer, M., Munnich, A., Cormier-Daire, V. &lt;strong&gt;DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.&lt;/strong&gt; Am. J. Hum. Genet. 84: 706-711, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19442771/&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;19442771&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19442771[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2009.04.016&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="19442771">Dagoneau et al. (2009)</a> identified 3 families with ATD and 2 families with SRPS3. Criteria for inclusion in the study were short ribs and a restricted thoracic cage; trident acetabular roof; small hands and feet; and shortening of the long bones. The 3 families with ATD were a large consanguineous Moroccan family and 2 small nonconsanguineous families from France. The 3 ATD families included 5 cases. In the first family, 1 child died of respiratory distress, and pregnancy of her aunt was terminated at 28 weeks' gestation for severe narrowing of the thorax. In the second family, 2 pregnancies were terminated for severe narrowing of the thorax. In the third family the affected child was 19 years old at the time of the report; no eye, liver, or kidney manifestations were detected. In the 2 SRPS3 families, the diagnosis was made before 20 weeks of gestation in 4 fetuses and the pregnancies were terminated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19442771" 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="Schmidts, M., Arts, H. H., Bongers, E. M. H. F., Yap, Z., Oud, M. M., Antony, D., Duijkers, L., Emes, R. D., Stalker, J., Yntema, J.-B. L., Plagnol, V., Hoischen, A., and 23 others. &lt;strong&gt;Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.&lt;/strong&gt; J. Med. Genet. 50: 309-323, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23456818/&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;23456818&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=23456818[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/10.1136/jmedgenet-2012-101284&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="23456818">Schmidts et al. (2013)</a> reported 29 patients from 19 families with ATD confirmed by genetic analysis. The clinical course was dominated by abnormal bone development with a small thorax due to reduced rib length, handlebar clavicles, scoliosis, and shortened long bones, particularly femurs. There was wide variability in rib shortening and a variable degree of respiratory impairment, even within the same family. Some patients had brachydactyly with cone-shaped epiphyses, but only 1 patient exhibited polydactyly, consisting of unilateral postaxial polydactyly of the hand. Short stature with variable shortening of the limbs and some bowing was often found in early childhood, but most patients reached normal height by adolescence or adulthood. Mild renal, retinal, and liver abnormalities were only rarely observed in 1 or 2 patients overall, so extraskeletal manifestations were essentially absent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23456818" 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="Badiner, N., Taylor, S. P., Forlenza, K., Lachman, R. S., University of Washington Center for Mendelian Genomics, Bamshad, M., Nickerson, D., Cohn, D. H., Krakow, D. &lt;strong&gt;Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.&lt;/strong&gt; Clin. Genet. 92: 158-165, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/27925158/&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;27925158&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/cge.12947&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="27925158">Badiner et al. (2017)</a> reported 3 patients with a severe phenotype thought to be most consistent with short-rib polydactyly type I. All 3 patients presented in utero. Findings included narrow thorax, polydactyly, abdominal ascites, and hydrops fetalis. In addition, cardiovascular, gastrointestinal, renal, and genital anomalies were identified. Craniofacial abnormalities included cleft lip and palate in 2 individuals. Radiographic findings included severely delayed ossification of the calvarium, metacarpals, metatarsals, and all phalanges. Hypoplastic vertebrae, mild platyspondyly with severely widened intervertebral disc spaces, and coronal clefts were observed. Micromelia with bilateral shortening of all long bones in upper and lower extremities was also seen. Only 11 ribs were visible on x-ray, all of which were horizontal and extremely short. Ilia had decreased height and increased width. Lower extremities showed ovoid tibiae and underdeveloped or absent fibulae. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27925158" 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 ATD/SRPS in the families reported by <a href="#3" class="mim-tip-reference" title="Dagoneau, N., Goulet, M., Genevieve, D., Sznajer, Y., Martinovic, J., Smithson, S., Huber, C., Baujat, G., Flori, E., Tecco, L., Cavalcanti, D., Delezoide, A.-L., Serre, V., Le Merrer, M., Munnich, A., Cormier-Daire, V. &lt;strong&gt;DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.&lt;/strong&gt; Am. J. Hum. Genet. 84: 706-711, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19442771/&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;19442771&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19442771[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2009.04.016&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="19442771">Dagoneau et al. (2009)</a> and <a href="#20" class="mim-tip-reference" title="Schmidts, M., Arts, H. H., Bongers, E. M. H. F., Yap, Z., Oud, M. M., Antony, D., Duijkers, L., Emes, R. D., Stalker, J., Yntema, J.-B. L., Plagnol, V., Hoischen, A., and 23 others. &lt;strong&gt;Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.&lt;/strong&gt; J. Med. Genet. 50: 309-323, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23456818/&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;23456818&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=23456818[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/10.1136/jmedgenet-2012-101284&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="23456818">Schmidts et al. (2013)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19442771+23456818" 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><strong><em>Prenatal Diagnosis</em></strong></p><p>
<a href="#12" class="mim-tip-reference" title="Meizner, I., Barnhard, Y. &lt;strong&gt;Short-rib polydactyly syndrome (SRPS) type III diagnosed during routine prenatal ultrasonographic screening: a case report.&lt;/strong&gt; Prenatal Diag. 15: 665-668, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8532628/&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;8532628&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/pd.1970150713&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="8532628">Meizner and Barnhard (1995)</a> reported diagnosis of SRPS III at 20 weeks' gestation during routine ultrasonographic screening in a 21-year-old Bedouin woman. Widened humeral metaphyses with marginal spurs, postaxial polydactyly and shortened ribs were demonstrated. The authors suggested that polycystic kidneys and pointed metaphyses characterize SRPS I; cleft lip/palate, polycystic kidneys, and disproportionately short tibia characterize SRPS II; and acromesomelia and congenital heart disease characterize the Ellis-van Creveld syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8532628" 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>Using linkage and microsatellite marker analysis in a large consanguineous Moroccan family, <a href="#3" class="mim-tip-reference" title="Dagoneau, N., Goulet, M., Genevieve, D., Sznajer, Y., Martinovic, J., Smithson, S., Huber, C., Baujat, G., Flori, E., Tecco, L., Cavalcanti, D., Delezoide, A.-L., Serre, V., Le Merrer, M., Munnich, A., Cormier-Daire, V. &lt;strong&gt;DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.&lt;/strong&gt; Am. J. Hum. Genet. 84: 706-711, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19442771/&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;19442771&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19442771[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2009.04.016&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="19442771">Dagoneau et al. (2009)</a> mapped the ATD phenotype to chromosome 11q14.3-q23.1, in a 20.4-Mb region bounded centromerically by D11S4175 and telomerically by D11S1893. The region contains 85 genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19442771" 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>Molecular Genetics</strong>
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<p>Among the genes in the 20.4-Mb critical region for asphyxiating thoracic dystrophy, <a href="#3" class="mim-tip-reference" title="Dagoneau, N., Goulet, M., Genevieve, D., Sznajer, Y., Martinovic, J., Smithson, S., Huber, C., Baujat, G., Flori, E., Tecco, L., Cavalcanti, D., Delezoide, A.-L., Serre, V., Le Merrer, M., Munnich, A., Cormier-Daire, V. &lt;strong&gt;DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.&lt;/strong&gt; Am. J. Hum. Genet. 84: 706-711, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19442771/&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;19442771&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19442771[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2009.04.016&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="19442771">Dagoneau et al. (2009)</a> considered DYNC2H1 a good candidate gene because it encodes a subunit of a cytoplasmic dynein complex. The authors sequenced all 90 exons of the DYNC2H1 gene and identified 2 homozygous missense mutations in 2 affected Moroccan children (M1991L, <a href="/entry/603297#0001">603297.0001</a> and M3762V, <a href="/entry/603297#0002">603297.0002</a>). The mutations cosegregated with the disease and were not identified in 210 ethnically matched control chromosomes. <a href="#3" class="mim-tip-reference" title="Dagoneau, N., Goulet, M., Genevieve, D., Sznajer, Y., Martinovic, J., Smithson, S., Huber, C., Baujat, G., Flori, E., Tecco, L., Cavalcanti, D., Delezoide, A.-L., Serre, V., Le Merrer, M., Munnich, A., Cormier-Daire, V. &lt;strong&gt;DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.&lt;/strong&gt; Am. J. Hum. Genet. 84: 706-711, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19442771/&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;19442771&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19442771[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2009.04.016&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="19442771">Dagoneau et al. (2009)</a> identified 4 other missense and nonsense mutations (<a href="/entry/603297#0003">603297.0003</a>-<a href="/entry/603297#0006">603297.0006</a>) in compound heterozygosity in 2 other families, both nonconsanguineous, with a clinical diagnosis of ATD. In 2 families in which members had a clinical diagnosis of short rib polydactyly type III, <a href="#3" class="mim-tip-reference" title="Dagoneau, N., Goulet, M., Genevieve, D., Sznajer, Y., Martinovic, J., Smithson, S., Huber, C., Baujat, G., Flori, E., Tecco, L., Cavalcanti, D., Delezoide, A.-L., Serre, V., Le Merrer, M., Munnich, A., Cormier-Daire, V. &lt;strong&gt;DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.&lt;/strong&gt; Am. J. Hum. Genet. 84: 706-711, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19442771/&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;19442771&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19442771[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2009.04.016&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="19442771">Dagoneau et al. (2009)</a> identified compound heterozygous mutations in the DYNC2H1 gene (<a href="/entry/603297#0012">603297.0012</a>-<a href="/entry/603297#0014">603297.0014</a>). <a href="#3" class="mim-tip-reference" title="Dagoneau, N., Goulet, M., Genevieve, D., Sznajer, Y., Martinovic, J., Smithson, S., Huber, C., Baujat, G., Flori, E., Tecco, L., Cavalcanti, D., Delezoide, A.-L., Serre, V., Le Merrer, M., Munnich, A., Cormier-Daire, V. &lt;strong&gt;DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.&lt;/strong&gt; Am. J. Hum. Genet. 84: 706-711, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19442771/&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;19442771&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19442771[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2009.04.016&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="19442771">Dagoneau et al. (2009)</a> concluded that ATD and SRPS III are variants of a single disorder belonging to the ciliopathy group. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19442771" 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="#13" class="mim-tip-reference" title="Merrill, A. E., Merriman, B., Farrington-Rock, C., Camacho, N., Sebald, E. T., Funari, V. A., Schibler, M. J., Firestein, M. H., Cohn, Z. A., Priore, M. A., Thompson, A. K., Rimoin, D. L., Nelson, S. F., Cohn, D. H., Krakow, D. &lt;strong&gt;Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short rib-polydactyly syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 84: 542-549, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19361615/&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;19361615&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19361615[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2009.03.015&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="19361615">Merrill et al. (2009)</a> identified homozygosity or compound heterozygosity for missense or nonsense mutations in the DYNC2H1 gene (<a href="/entry/603297#0007">603297.0007</a>-<a href="/entry/603297#0011">603297.0011</a>) in patients with a clinical diagnosis of short rib-polydactyly type III. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19361615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a proband from a nonconsanguineous family with a clinical diagnosis of short-rib polydactyly type II, or Majewski syndrome, <a href="#26" class="mim-tip-reference" title="Thiel, C., Kessler, K., Giessl, A., Dimmler, A., Shalev, S. A., von der Haar, S., Zenker, M., Zahnleiter, D., Stoss, H., Beinder, E., Abou Jamra, R., Ekici, A. B., Schroder-Kress, N., Aigner, T., Kirchner, T., Reis, A., Brandstatter, J. H., Rauch, A. &lt;strong&gt;NEK1 mutations cause short-rib polydactyly syndrome type Majewski.&lt;/strong&gt; Am. J. Hum. Genet. 88: 106-114, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21211617/&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;21211617&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21211617[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2010.12.004&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="21211617">Thiel et al. (2011)</a> identified heterozygosity for a missense mutation in the DYNC2H1 gene (<a href="/entry/603297#0016">603297.0016</a>) and heterozygosity for a missense mutation in the NEK1 gene (<a href="/entry/604588#0003">604588.0003</a>). No second mutation was found in either gene and each parent was heterozygous for one of the mutations; thus, this patient appeared to represent a digenic biallelic phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21211617" 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="El Hokayem, J., Huber, C., Couve, A., Aziza, J., Baujat, G., Bouvier, R., Cavalcanti, D. P., Collins, F. A., Cordier, M.-P., Delezoide, A.-L., Gonzales, M., Johnson, D., and 11 others. &lt;strong&gt;NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.&lt;/strong&gt; J. Med. Genet. 49: 227-233, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22499340/&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;22499340&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmedgenet-2011-100717&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="22499340">El Hokayem et al. (2012)</a> analyzed the DYNC2H1 gene in 7 unrelated cases diagnosed with short-rib polydactyly type II, all of which were either terminated pregnancies or cases of neonatal death and in which mutation in the NEK1 gene (<a href="/entry/604588">604588</a>) had been excluded, and identified compound heterozygous DYNC2H1 mutations in 4 of the families (see, e.g., <a href="/entry/604588#0017">604588.0017</a>-<a href="/entry/604588#0020">604588.0020</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22499340" 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>Using a combination of SNP mapping, exome sequencing, and Sanger sequencing, <a href="#20" class="mim-tip-reference" title="Schmidts, M., Arts, H. H., Bongers, E. M. H. F., Yap, Z., Oud, M. M., Antony, D., Duijkers, L., Emes, R. D., Stalker, J., Yntema, J.-B. L., Plagnol, V., Hoischen, A., and 23 others. &lt;strong&gt;Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.&lt;/strong&gt; J. Med. Genet. 50: 309-323, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23456818/&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;23456818&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=23456818[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/10.1136/jmedgenet-2012-101284&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="23456818">Schmidts et al. (2013)</a> identified 34 DYNC2H1 mutations (see, e.g., D3015G, <a href="/entry/603297#0004">603297.0004</a> and I1240T, <a href="/entry/603297#0005">603297.0005</a>) in 29 (41%) of 71 patients from 19 (33%) of 57 families with a clinical diagnosis of ATD. Most of the mutations were private, occurring in only 1 family. The variants included 13 terminating mutations and 21 missense mutations distributed across the gene, with some clustering of the missense mutations in functional domains. All mutations occurred in homozygous or compound heterozygous state, and no patients had 2 truncating mutations, suggesting that the human phenotype is at least partly hypomorphic. Two patients carried 3 pathogenic mutations in the DYNC2H1 gene. No functional studies were performed. Patient fibroblasts showed defects in retrograde intraflagellar transport (IFT), as demonstrated by accumulation of anterograde proteins IFT57 (<a href="/entry/606621">606621</a>) and IFT88 (<a href="/entry/600595">600595</a>) in the ciliary tips. However, the extent of this cellular defect varied significantly among patients. Ciliary length and number were similar to controls. The patients were mainly of northern European or Turkish origin, and the findings indicated that DYNC2H1 mutations are the most frequent overall cause of ATD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23456818" 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>Using exome sequencing, <a href="#1" class="mim-tip-reference" title="Badiner, N., Taylor, S. P., Forlenza, K., Lachman, R. S., University of Washington Center for Mendelian Genomics, Bamshad, M., Nickerson, D., Cohn, D. H., Krakow, D. &lt;strong&gt;Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.&lt;/strong&gt; Clin. Genet. 92: 158-165, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/27925158/&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;27925158&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/cge.12947&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="27925158">Badiner et al. (2017)</a> identified 3 patients with a severe phenotype thought to be most consistent with short-rib polydactyly type I. All 3 patients were compound heterozygous for mutations in DYNC2H1; 5 of the mutations were missense changes at highly conserved residues, and 1 was a null mutation. All of the mutations were rare, including 4 that had not previously been reported in public sequence databases or in patients with short-rib polydactyly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27925158" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The short rib-polydactyly syndromes (SRPS) were defined as a group of autosomal recessive lethal skeletal dysplasias characterized by markedly short ribs, short limbs, polydactyly, and multiple anomalies of major organs, including heart, intestines, genitalia, kidney, liver, and pancreas. There is phenotypic overlap in various forms of SRPS (summary by <a href="#5" class="mim-tip-reference" title="Elcioglu, N. H., Hall, C. M. &lt;strong&gt;Diagnostic dilemmas in the short rib-polydactyly syndrome group.&lt;/strong&gt; Am. J. Med. Genet. 111: 392-400, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12210298/&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;12210298&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.10562&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="12210298">Elcioglu and Hall, 2002</a>). Five types had been distinguished: SRPS I (Saldino-Noonan type); SRPS II (Majewski type), SRPS III (Verma-Naumoff type), SRPS IV (Beemer-Langer type), and SRPS V (<a href="#5" class="mim-tip-reference" title="Elcioglu, N. H., Hall, C. M. &lt;strong&gt;Diagnostic dilemmas in the short rib-polydactyly syndrome group.&lt;/strong&gt; Am. J. Med. Genet. 111: 392-400, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12210298/&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;12210298&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.10562&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="12210298">Elcioglu and Hall, 2002</a>; <a href="#14" class="mim-tip-reference" title="Mill, P., Lockhart, P. J., Fitzpatrick, E., Mountford, H. S., Hall, E. A., Reijns, M. A. M., Kreighren, M., Bahlo, M., Bromhead, C. J., Budd, P., Aftimos, S., Delatycki, M. B., Savarirayan, R., Jackson, I. J., Amor, D. J. &lt;strong&gt;Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.&lt;/strong&gt; Am. J. Hum. Genet. 88: 508-515, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21473986/&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;21473986&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21473986[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2011.03.015&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="21473986">Mill et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12210298+21473986" 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>Because of speculation that ATD and SRPS type III represent the severe end of the Ellis-van Creveld syndrome spectrum, <a href="#8" class="mim-tip-reference" title="Krakow, D., Salazar, D., Wilcox, W. R., Rimoin, D. L., Cohn, D. H. &lt;strong&gt;Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.&lt;/strong&gt; Europ. J. Hum. Genet. 8: 645-648, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10951528/&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;10951528&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5200507&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="10951528">Krakow et al. (2000)</a> performed linkage analysis using markers from the EVC region on 4p in 7 families manifesting either ATD or SRPS type III. In 2 of the families, 1 segregating ATD and the other SRPS, linkage of the phenotype to the EVC region was excluded. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10951528" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The question of SRPS III being due to disruption of a gene in the 4p16 region where EVC maps was raised by <a href="#27" class="mim-tip-reference" title="Urioste, M., Martinez-Frias, M. L., Bermejo, E., Jimenez, N., Romero, D., Nieto, C., Villa, A. &lt;strong&gt;Short rib-polydactyly syndrome and pericentric inversion of chromosome 4.&lt;/strong&gt; Am. J. Med. Genet. 49: 94-97, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7909650/&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;7909650&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320490118&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="7909650">Urioste et al. (1994)</a>, but was excluded in one family with SRPS III by linkage analysis (<a href="#8" class="mim-tip-reference" title="Krakow, D., Salazar, D., Wilcox, W. R., Rimoin, D. L., Cohn, D. H. &lt;strong&gt;Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.&lt;/strong&gt; Europ. J. Hum. Genet. 8: 645-648, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10951528/&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;10951528&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5200507&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="10951528">Krakow et al., 2000</a>). <a href="#25" class="mim-tip-reference" title="Takamine, Y., Krejci, P., Mekikian, P. B., Wilcox, W. R. &lt;strong&gt;Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 130A: 96-97, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15368503/&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;15368503&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.20579&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="15368503">Takamine et al. (2004)</a> sequenced all 21 coding exons and flanking intron sequences of the EVC1 gene (<a href="/entry/604831">604831</a>) in 10 unrelated cases of SRPS III and found no mutations interpreted as pathologic. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15368503+7909650+10951528" 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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<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>See Also:</strong>
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<a href="#Lowry1975" class="mim-tip-reference" title="Lowry, R. B., Wignall, N. &lt;strong&gt;Saldino-Noonan short rib-polydactyly dwarfism syndrome.&lt;/strong&gt; Pediatrics 56: 121-122, 1975.">Lowry and Wignall (1975)</a>; <a href="#Naumoff1980" class="mim-tip-reference" title="Naumoff, P. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Pittsburgh, Pa. 2/18/1980.">Naumoff (1980)</a>; <a href="#Spranger1974" class="mim-tip-reference" title="Spranger, J. W., Grimm, B., Weller, M., Weibenbacher, G., Herrmann, J., Gilbert, E. F., Krepler, R. &lt;strong&gt;Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan.&lt;/strong&gt; Z. Kinderheilk. 116: 73-94, 1974.">Spranger et al. (1974)</a>
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<a id="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>REFERENCES</strong>
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Badiner, N., Taylor, S. P., Forlenza, K., Lachman, R. S., University of Washington Center for Mendelian Genomics, Bamshad, M., Nickerson, D., Cohn, D. H., Krakow, D.
<strong>Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.</strong>
Clin. Genet. 92: 158-165, 2017.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27925158/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27925158</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27925158" 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/cge.12947" target="_blank">Full Text</a>]
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<a id="Bernstein1985" class="mim-anchor"></a>
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Bernstein, R., Isdale, J., Pinto, M., Zaaijman, J. T., Jenkins, T.
<strong>Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3981580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3981580</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3981580" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.22.1.46" target="_blank">Full Text</a>]
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<a id="Dagoneau2009" class="mim-anchor"></a>
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Dagoneau, N., Goulet, M., Genevieve, D., Sznajer, Y., Martinovic, J., Smithson, S., Huber, C., Baujat, G., Flori, E., Tecco, L., Cavalcanti, D., Delezoide, A.-L., Serre, V., Le Merrer, M., Munnich, A., Cormier-Daire, V.
<strong>DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.</strong>
Am. J. Hum. Genet. 84: 706-711, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19442771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19442771</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19442771[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=19442771" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ajhg.2009.04.016" target="_blank">Full Text</a>]
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<a id="El Hokayem2012" class="mim-anchor"></a>
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El Hokayem, J., Huber, C., Couve, A., Aziza, J., Baujat, G., Bouvier, R., Cavalcanti, D. P., Collins, F. A., Cordier, M.-P., Delezoide, A.-L., Gonzales, M., Johnson, D., and 11 others.
<strong>NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.</strong>
J. Med. Genet. 49: 227-233, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22499340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22499340</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22499340" 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/jmedgenet-2011-100717" target="_blank">Full Text</a>]
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<a id="Elcioglu2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Elcioglu, N. H., Hall, C. M.
<strong>Diagnostic dilemmas in the short rib-polydactyly syndrome group.</strong>
Am. J. Med. Genet. 111: 392-400, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12210298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12210298</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12210298" 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.10562" target="_blank">Full Text</a>]
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<a id="Ho2000" class="mim-anchor"></a>
<div class="">
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Ho, N. C., Francomano, C. A., van Allen, M.
<strong>Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder.</strong>
Am. J. Med. Genet. 90: 310-314, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10710229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10710229</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10710229" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1096-8628(20000214)90:4&lt;310::aid-ajmg9&gt;3.0.co;2-n" target="_blank">Full Text</a>]
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<a id="Huber2012" class="mim-anchor"></a>
<div class="">
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Huber, C., Cormier-Daire, V.
<strong>Ciliary disorder of the skeleton.</strong>
Am. J. Med. Genet. 160C: 165-174, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22791528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22791528</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22791528" 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.c.31336" target="_blank">Full Text</a>]
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<a id="Krakow2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Krakow, D., Salazar, D., Wilcox, W. R., Rimoin, D. L., Cohn, D. H.
<strong>Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.</strong>
Europ. J. Hum. Genet. 8: 645-648, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10951528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10951528</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10951528" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/sj.ejhg.5200507" target="_blank">Full Text</a>]
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<a id="Lowry1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lowry, R. B., Wignall, N.
<strong>Saldino-Noonan short rib-polydactyly dwarfism syndrome.</strong>
Pediatrics 56: 121-122, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1153245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1153245</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1153245" 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="10" class="mim-anchor"></a>
<a id="Marec1973" class="mim-anchor"></a>
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<p class="mim-text-font">
Marec, B. L., Passarge, E., Dellenbach, P., Kerisit, J., Signargout, J., Ferrand, B., Senecal, J.
<strong>Les formes neonatales lethales de la dysplasie chondro-ectodermique.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4734687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4734687</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4734687" 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="11" class="mim-anchor"></a>
<a id="Martinez-Frias1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Martinez-Frias, M.-L., Bermejo, E., Urioste, M., Huertas, H., Arroyo, I.
<strong>Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum.</strong>
J. Med. Genet. 30: 937-941, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8301649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8301649</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8301649" 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.30.11.937" target="_blank">Full Text</a>]
</p>
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<a id="12" class="mim-anchor"></a>
<a id="Meizner1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Meizner, I., Barnhard, Y.
<strong>Short-rib polydactyly syndrome (SRPS) type III diagnosed during routine prenatal ultrasonographic screening: a case report.</strong>
Prenatal Diag. 15: 665-668, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8532628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8532628</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8532628" 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/pd.1970150713" target="_blank">Full Text</a>]
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<a id="Merrill2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Merrill, A. E., Merriman, B., Farrington-Rock, C., Camacho, N., Sebald, E. T., Funari, V. A., Schibler, M. J., Firestein, M. H., Cohn, Z. A., Priore, M. A., Thompson, A. K., Rimoin, D. L., Nelson, S. F., Cohn, D. H., Krakow, D.
<strong>Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short rib-polydactyly syndrome.</strong>
Am. J. Hum. Genet. 84: 542-549, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19361615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19361615</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19361615[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=19361615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ajhg.2009.03.015" target="_blank">Full Text</a>]
</p>
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<a id="14" class="mim-anchor"></a>
<a id="Mill2011" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mill, P., Lockhart, P. J., Fitzpatrick, E., Mountford, H. S., Hall, E. A., Reijns, M. A. M., Kreighren, M., Bahlo, M., Bromhead, C. J., Budd, P., Aftimos, S., Delatycki, M. B., Savarirayan, R., Jackson, I. J., Amor, D. J.
<strong>Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.</strong>
Am. J. Hum. Genet. 88: 508-515, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21473986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21473986</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21473986[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=21473986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ajhg.2011.03.015" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="15" class="mim-anchor"></a>
<a id="Naumoff1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Naumoff, P., Young, L. W., Mazer, J., Amortegui, A. J.
<strong>Short-rib-polydactyly syndrome type III.</strong>
Radiology 122: 443-447, 1977.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/834893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">834893</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=834893" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1148/122.2.443" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="16" class="mim-anchor"></a>
<a id="Naumoff1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Naumoff, P.
<strong>Personal Communication.</strong>
Pittsburgh, Pa. 2/18/1980.
</p>
</div>
</li>
<li>
<a id="17" class="mim-anchor"></a>
<a id="Richardson1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Richardson, M. M., Beaudet, A. L., Wagner, M. L., Malini, S., Rosenberg, H. S., Lucci, J. A., Jr.
<strong>Prenatal diagnosis of recurrence of Saldino-Noonan dwarfism.</strong>
J. Pediat. 91: 467-471, 1977.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/894422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">894422</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=894422" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-3476(77)81327-9" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="18" class="mim-anchor"></a>
<a id="Saldino1972" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Saldino, R. M., Noonan, C. D.
<strong>Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral abnormalities.</strong>
Am. J. Roentgen. Radium Ther. Nucl. Med. 114: 257-263, 1972.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5058513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5058513</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5058513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.2214/ajr.114.2.257" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="19" class="mim-anchor"></a>
<a id="Sarafoglou1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sarafoglou, K., Funai, E. F., Fefferman, N., Zajac, L., Geneiser, N., Paidas, M. J., Greco, A., Wallerstein, R.
<strong>Short rib-polydactyly syndrome: more evidence of a continuous spectrum.</strong>
Clin. Genet. 56: 145-148, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10517252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10517252</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10517252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1034/j.1399-0004.1999.560209.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="20" class="mim-anchor"></a>
<a id="Schmidts2013" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Schmidts, M., Arts, H. H., Bongers, E. M. H. F., Yap, Z., Oud, M. M., Antony, D., Duijkers, L., Emes, R. D., Stalker, J., Yntema, J.-B. L., Plagnol, V., Hoischen, A., and 23 others.
<strong>Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.</strong>
J. Med. Genet. 50: 309-323, 2013.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23456818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23456818</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23456818[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=23456818" 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/jmedgenet-2012-101284" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="21" class="mim-anchor"></a>
<a id="Schmidts2013" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Schmidts, M., Vodopiutz, J., Christou-Savina, S., Cortes, C. R., McInerney-Leo, A. M., Emes, R. D., Arts, H. H., Tuysuz, B., D'Silva, J., Leo, P. J., Giles, T. C., Oud, M. M., and 23 others.
<strong>Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.</strong>
Am. J. Hum. Genet. 93: 932-944, 2013.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24183451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24183451</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24183451[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=24183451" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ajhg.2013.10.003" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="22" class="mim-anchor"></a>
<a id="Sillence1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sillence, D. O.
<strong>Non-Majewski short rib-polydactyly syndrome. (Editorial)</strong>
Am. J. Med. Genet. 7: 223-229, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7468650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7468650</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7468650" 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.1320070215" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="23" class="mim-anchor"></a>
<a id="Spranger1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Spranger, J. W., Grimm, B., Weller, M., Weibenbacher, G., Herrmann, J., Gilbert, E. F., Krepler, R.
<strong>Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan.</strong>
Z. Kinderheilk. 116: 73-94, 1974.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4816160/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4816160</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4816160" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00491508" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="24" class="mim-anchor"></a>
<a id="Spranger1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Spranger, J.
<strong>Personal Communication.</strong>
Mainz, Germany 11/24/1981.
</p>
</div>
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<li>
<a id="25" class="mim-anchor"></a>
<a id="Takamine2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Takamine, Y., Krejci, P., Mekikian, P. B., Wilcox, W. R.
<strong>Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes. (Letter)</strong>
Am. J. Med. Genet. 130A: 96-97, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15368503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15368503</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15368503" 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.20579" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="26" class="mim-anchor"></a>
<a id="Thiel2011" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Thiel, C., Kessler, K., Giessl, A., Dimmler, A., Shalev, S. A., von der Haar, S., Zenker, M., Zahnleiter, D., Stoss, H., Beinder, E., Abou Jamra, R., Ekici, A. B., Schroder-Kress, N., Aigner, T., Kirchner, T., Reis, A., Brandstatter, J. H., Rauch, A.
<strong>NEK1 mutations cause short-rib polydactyly syndrome type Majewski.</strong>
Am. J. Hum. Genet. 88: 106-114, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21211617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21211617</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21211617[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=21211617" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ajhg.2010.12.004" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="27" class="mim-anchor"></a>
<a id="Urioste1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Urioste, M., Martinez-Frias, M. L., Bermejo, E., Jimenez, N., Romero, D., Nieto, C., Villa, A.
<strong>Short rib-polydactyly syndrome and pericentric inversion of chromosome 4.</strong>
Am. J. Med. Genet. 49: 94-97, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7909650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7909650</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7909650" 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.1320490118" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="28" class="mim-anchor"></a>
<a id="Verma1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Verma, I. C., Bhargava, S., Agarwal, S.
<strong>An autosomal recessive form of lethal chondrodystrophy with severe thoracic narrowing, rhizoacromelic type of micromelia, polydactyly and genital anomalies.</strong>
Birth Defects Orig. Art. Ser. XI(6): 167-174, 1975.
</p>
</div>
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<li>
<a id="29" class="mim-anchor"></a>
<a id="Wu1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wu, M.-H., Kuo, P.-L., Lin, S.-J.
<strong>Prenatal diagnosis of recurrence of short rib-polydactyly syndrome.</strong>
Am. J. Med. Genet. 55: 279-284, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7726223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7726223</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7726223" 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.1320550307" target="_blank">Full Text</a>]
</p>
</div>
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<a id="30" class="mim-anchor"></a>
<a id="Yang1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Yang, S. S., Langer, L. O., Jr., Cacciarelli, A., Dahms, B. B., Unger, E. R., Roskamp, J., Dinno, N. D., Chen, H.
<strong>Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study.</strong>
Am. J. Med. Genet. Suppl. 3: 191-207, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3130854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3130854</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3130854" 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.1320280523" target="_blank">Full Text</a>]
</p>
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<li>
<a id="31" class="mim-anchor"></a>
<a id="Yang1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Yang, S. S., Lin, C.-S., Al Saadi, A., Nangia, B. S., Bernstein, J.
<strong>Short rib-polydactyly syndrome, type 3 with chondrocytic inclusions: report of a case and review of the literature.</strong>
Am. J. Med. Genet. 7: 205-213, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7468648/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7468648</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7468648" 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.1320070213" target="_blank">Full Text</a>]
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<a id="contributors" class="mim-anchor"></a>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Sonja A. Rasmussen - updated : 04/09/2019
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<div class="row collapse" id="mimCollapseContributors">
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Marla J. F. O'Neill - updated : 2/10/2014<br>Cassandra L. Kniffin - updated : 5/22/2013<br>Marla J. F. O'Neill - updated : 12/2/2011
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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Ada Hamosh : 10/16/2009
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carol : 04/09/2019
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<span class="mim-text-font">
carol : 02/06/2018<br>carol : 06/21/2017<br>carol : 10/21/2016<br>mcolton : 03/04/2015<br>carol : 2/21/2014<br>carol : 2/11/2014<br>carol : 2/11/2014<br>carol : 2/10/2014<br>carol : 5/23/2013<br>ckniffin : 5/22/2013<br>carol : 12/6/2011<br>terry : 12/2/2011<br>carol : 9/17/2010<br>alopez : 10/18/2009
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<h3>
<span class="mim-font">
<strong>#</strong> 613091
</span>
</h3>
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<div>
<h3>
<span class="mim-font">
SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3
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</h3>
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<div>
<br />
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<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
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<div>
<h4>
<span class="mim-font">
ASPHYXIATING THORACIC DYSTROPHY 3; ATD3<br />
SHORT RIB-POLYDACTYLY SYNDROME, TYPE I; SRPS1<br />
SALDINO-NOONAN SYNDROME<br />
POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I<br />
SHORT RIB-POLYDACTYLY SYNDROME, TYPE III; SRPS3<br />
VERMA-NAUMOFF SYNDROME<br />
POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE III<br />
SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB; SRPS2B
</span>
</h4>
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<br />
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<div>
<p>
<span class="mim-text-font">
<strong>SNOMEDCT:</strong> 254051008, 726032008; &nbsp;
<strong>ORPHA:</strong> 474, 93269, 93270, 93271; &nbsp;
<strong>DO:</strong> 0110087; &nbsp;
</span>
</p>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed 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">
11q22.3
</span>
</td>
<td>
<span class="mim-font">
Short-rib thoracic dysplasia 3 with or without polydactyly
</span>
</td>
<td>
<span class="mim-font">
613091
</span>
</td>
<td>
<span class="mim-font">
Autosomal recessive; Digenic recessive
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<span class="mim-font">
3
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<span class="mim-font">
DYNC2H1
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<span class="mim-font">
603297
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<h4>
<span class="mim-font">
<strong>TEXT</strong>
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</h4>
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that short-rib thoracic dysplasia-3 with or without polydactyly (SRTD3) is caused by homozygous or compound heterozygous mutation in the DYNC2H1 gene (603297) on chromosome 11q22. There is also evidence that SRTD can be caused by digenic biallelic mutation in the DYNC2H1 and NEK1 (604588) genes.</p>
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<h4>
<span class="mim-font">
<strong>Description</strong>
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<span class="mim-text-font">
<p>Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). </p><p>There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330).</p><p>For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).</p>
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<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
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<p>Saldino and Noonan (1972) described 2 stillborn female sibs and an unrelated stillborn infant who had severe thoracic dystrophy, micromelia, hypoplastic long bones, and multiple internal congenital anomalies. Postaxial polydactyly in 1 sib was present in 3 extremities, with 6 fingers on the right hand and 7 on the left, and 6 toes on the left foot; her sib had 7 rudimentary fingers of the hands, with nail beds but no nails, and both feet had 5 rudimentary toes without nail beds. Their limbs were severely shortened and flipper-like, with striking metaphyseal dysplasia of tubular bones. Ossification was defective in the calvaria, vertebrae, pelvis, and bones of the hands and feet. The tubular bones were short, with marked metaphyseal irregularities. Saldino and Noonan (1972) noted that in these patients the pelvis resembled that of patients with a diagnosis of Ellis-van Creveld syndrome or asphyxiating thoracic dystrophy, with small ilia and osseous spurs projecting medially and laterally from the acetabular roofs. In addition, the sibs exhibited polycystic kidneys, transposition of great vessels, and atretic lesions of the gastrointestinal and genitourinary systems. Saldino and Noonan (1972) suggested that this was a 'new' malformation syndrome (SRPS I) similar to EVC and ATD. </p><p>Richardson et al. (1977) described affected sibs with a phenotype similar to that of the sibs described by Saldino and Noonan (1972). </p><p>Verma et al. (1975) reported a consanguineous family in which 6 of 9 conceptions had a short-limbed lethal dwarfism manifesting as a severe thoracic dystrophy, rhizoacromelic type of micromelia, postaxial polydactyly, and genital anomalies in the males. Verma et al. (1975) suggested that the disorder in these sibs represented a distinct entity similar to the disorder reported by Saldino and Noonan (1972). </p><p>Naumoff et al. (1977) described what they considered to be a novel form of short rib-polydactyly syndrome (SRPS III) in 3 patients who died perinatally of asphyxia due to thoracic narrowing and found 3 possibly identical cases in the literature. Their patients 1 and 2 were brother and sister. They suggested that the disorder reported by Verma et al. (1975) may be the same as that in their patient. </p><p>Yang et al. (1980) reported a case of SRPS III with previously undescribed cytoplasmic inclusion bodies that were PAS-positive and diastase-resistant. They found that cloacal developmental abnormalities, which are invariably present in patients with SRPS I, are rare in SRPS III (1 in 13 cases). </p><p>Sillence (1980) suggested that the claimed differences between SRPS types II and III are probably due to variability and not to heterogeneity, a view in which Spranger (1981) concurred. </p><p>Bernstein et al. (1985) presented 4 cases of short rib-polydactyly syndrome from 3 nonconsanguineous families. The findings were most consistent with type III. They raised the question of allelism of the 3 types, being particularly impressed with the phenotypic overlap of SRPS I and SRPS III. All 4 of their cases showed anomalous sexual development. In spite of testicular differentiation in all 4 and a 46,XY karyotype in the 2 on whom chromosome studies were done, 2 infants were phenotypically female and 2 had ambiguous genitalia. </p><p>Through the Spanish collaborative study of congenital malformations, Martinez-Frias et al. (1993) identified 2 unrelated infants with short rib-polydactyly syndrome and clinical/radiologic features overlapping the 4 established forms of lethal SRPS. One of the infants had one of the most radiologically severe SRPS published to date. Martinez-Frias et al. (1993) raised again the question of whether this group of disorders represents a continuous spectrum rather than separate entities. Sarafoglou et al. (1999) also reported a fetus with radiologic features of the 4 established types, supporting the hypothesis that the different subtypes are not single entities, but part of a continuous spectrum with variable expressivity. </p><p>Wu et al. (1995) described a family in which 3 consecutive conceptions resulted in 4 infants with short rib-polydactyly syndrome. One was a twin conception. The condition was identified in the second and third pregnancies by prenatal ultrasound studies. Flat face, hypoplastic thorax, short limbs and ribs, polydactyly, absence of penis, and death soon after birth were noted in the first affected male baby. The affected female twins had the same characteristics, though milder. The last male baby was also severely affected, suggesting that chromosomal sex may be a modifying factor. Wu et al. (1995) suggested that the first and fourth cases most resembled SRPS III, whereas the twins resembled the type described by Marec et al. (1973) (SRPS I) in 2 pairs of sibs. </p><p>From clinicopathologic investigation of 8 patients with asphyxiating thoracic dystrophy, Yang et al. (1987) suggested the existence of 2 types of ATD: type 1 was characterized by the presence of radiologically irregular metaphyseal ends and histopathologic ally irregular cartilage-bone junction with patchy distribution of the physeal zone of hypertrophy; type 2 showed radiologically smooth metaphyseal ends and histopathologically diffusely retarded and disorganized physes with smooth cartilage-bone junctions. The authors were impressed with the similarities between type 1 ATD and short rib-polydactyly syndrome type III. </p><p>Ho et al. (2000) reported a family with 2 brothers affected with mild Jeune syndrome, and a stillborn male infant, the product of a marriage between the paternal first cousin and a maternal aunt of the 2 boys, with lethal SRPS type III. The authors suggested that these conditions may be variants of a single disorder. They proposed that the intrafamilial variability may reflect the effects of modifying loci on gene expression. </p><p>Through a study to identify the molecular basis of asphyxiating thoracic dystrophy and short rib-polydactyly syndrome type III, Dagoneau et al. (2009) identified 3 families with ATD and 2 families with SRPS3. Criteria for inclusion in the study were short ribs and a restricted thoracic cage; trident acetabular roof; small hands and feet; and shortening of the long bones. The 3 families with ATD were a large consanguineous Moroccan family and 2 small nonconsanguineous families from France. The 3 ATD families included 5 cases. In the first family, 1 child died of respiratory distress, and pregnancy of her aunt was terminated at 28 weeks' gestation for severe narrowing of the thorax. In the second family, 2 pregnancies were terminated for severe narrowing of the thorax. In the third family the affected child was 19 years old at the time of the report; no eye, liver, or kidney manifestations were detected. In the 2 SRPS3 families, the diagnosis was made before 20 weeks of gestation in 4 fetuses and the pregnancies were terminated. </p><p>Schmidts et al. (2013) reported 29 patients from 19 families with ATD confirmed by genetic analysis. The clinical course was dominated by abnormal bone development with a small thorax due to reduced rib length, handlebar clavicles, scoliosis, and shortened long bones, particularly femurs. There was wide variability in rib shortening and a variable degree of respiratory impairment, even within the same family. Some patients had brachydactyly with cone-shaped epiphyses, but only 1 patient exhibited polydactyly, consisting of unilateral postaxial polydactyly of the hand. Short stature with variable shortening of the limbs and some bowing was often found in early childhood, but most patients reached normal height by adolescence or adulthood. Mild renal, retinal, and liver abnormalities were only rarely observed in 1 or 2 patients overall, so extraskeletal manifestations were essentially absent. </p><p>Badiner et al. (2017) reported 3 patients with a severe phenotype thought to be most consistent with short-rib polydactyly type I. All 3 patients presented in utero. Findings included narrow thorax, polydactyly, abdominal ascites, and hydrops fetalis. In addition, cardiovascular, gastrointestinal, renal, and genital anomalies were identified. Craniofacial abnormalities included cleft lip and palate in 2 individuals. Radiographic findings included severely delayed ossification of the calvarium, metacarpals, metatarsals, and all phalanges. Hypoplastic vertebrae, mild platyspondyly with severely widened intervertebral disc spaces, and coronal clefts were observed. Micromelia with bilateral shortening of all long bones in upper and lower extremities was also seen. Only 11 ribs were visible on x-ray, all of which were horizontal and extremely short. Ilia had decreased height and increased width. Lower extremities showed ovoid tibiae and underdeveloped or absent fibulae. </p>
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<h4>
<span class="mim-font">
<strong>Inheritance</strong>
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</h4>
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<span class="mim-text-font">
<p>The transmission pattern of ATD/SRPS in the families reported by Dagoneau et al. (2009) and Schmidts et al. (2013) was consistent with autosomal recessive inheritance. </p>
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<h4>
<span class="mim-font">
<strong>Diagnosis</strong>
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</h4>
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<p><strong><em>Prenatal Diagnosis</em></strong></p><p>
Meizner and Barnhard (1995) reported diagnosis of SRPS III at 20 weeks' gestation during routine ultrasonographic screening in a 21-year-old Bedouin woman. Widened humeral metaphyses with marginal spurs, postaxial polydactyly and shortened ribs were demonstrated. The authors suggested that polycystic kidneys and pointed metaphyses characterize SRPS I; cleft lip/palate, polycystic kidneys, and disproportionately short tibia characterize SRPS II; and acromesomelia and congenital heart disease characterize the Ellis-van Creveld syndrome. </p>
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<h4>
<span class="mim-font">
<strong>Mapping</strong>
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</h4>
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<span class="mim-text-font">
<p>Using linkage and microsatellite marker analysis in a large consanguineous Moroccan family, Dagoneau et al. (2009) mapped the ATD phenotype to chromosome 11q14.3-q23.1, in a 20.4-Mb region bounded centromerically by D11S4175 and telomerically by D11S1893. The region contains 85 genes. </p>
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<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
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</h4>
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<span class="mim-text-font">
<p>Among the genes in the 20.4-Mb critical region for asphyxiating thoracic dystrophy, Dagoneau et al. (2009) considered DYNC2H1 a good candidate gene because it encodes a subunit of a cytoplasmic dynein complex. The authors sequenced all 90 exons of the DYNC2H1 gene and identified 2 homozygous missense mutations in 2 affected Moroccan children (M1991L, 603297.0001 and M3762V, 603297.0002). The mutations cosegregated with the disease and were not identified in 210 ethnically matched control chromosomes. Dagoneau et al. (2009) identified 4 other missense and nonsense mutations (603297.0003-603297.0006) in compound heterozygosity in 2 other families, both nonconsanguineous, with a clinical diagnosis of ATD. In 2 families in which members had a clinical diagnosis of short rib polydactyly type III, Dagoneau et al. (2009) identified compound heterozygous mutations in the DYNC2H1 gene (603297.0012-603297.0014). Dagoneau et al. (2009) concluded that ATD and SRPS III are variants of a single disorder belonging to the ciliopathy group. </p><p>Merrill et al. (2009) identified homozygosity or compound heterozygosity for missense or nonsense mutations in the DYNC2H1 gene (603297.0007-603297.0011) in patients with a clinical diagnosis of short rib-polydactyly type III. </p><p>In a proband from a nonconsanguineous family with a clinical diagnosis of short-rib polydactyly type II, or Majewski syndrome, Thiel et al. (2011) identified heterozygosity for a missense mutation in the DYNC2H1 gene (603297.0016) and heterozygosity for a missense mutation in the NEK1 gene (604588.0003). No second mutation was found in either gene and each parent was heterozygous for one of the mutations; thus, this patient appeared to represent a digenic biallelic phenotype. </p><p>El Hokayem et al. (2012) analyzed the DYNC2H1 gene in 7 unrelated cases diagnosed with short-rib polydactyly type II, all of which were either terminated pregnancies or cases of neonatal death and in which mutation in the NEK1 gene (604588) had been excluded, and identified compound heterozygous DYNC2H1 mutations in 4 of the families (see, e.g., 604588.0017-604588.0020). </p><p>Using a combination of SNP mapping, exome sequencing, and Sanger sequencing, Schmidts et al. (2013) identified 34 DYNC2H1 mutations (see, e.g., D3015G, 603297.0004 and I1240T, 603297.0005) in 29 (41%) of 71 patients from 19 (33%) of 57 families with a clinical diagnosis of ATD. Most of the mutations were private, occurring in only 1 family. The variants included 13 terminating mutations and 21 missense mutations distributed across the gene, with some clustering of the missense mutations in functional domains. All mutations occurred in homozygous or compound heterozygous state, and no patients had 2 truncating mutations, suggesting that the human phenotype is at least partly hypomorphic. Two patients carried 3 pathogenic mutations in the DYNC2H1 gene. No functional studies were performed. Patient fibroblasts showed defects in retrograde intraflagellar transport (IFT), as demonstrated by accumulation of anterograde proteins IFT57 (606621) and IFT88 (600595) in the ciliary tips. However, the extent of this cellular defect varied significantly among patients. Ciliary length and number were similar to controls. The patients were mainly of northern European or Turkish origin, and the findings indicated that DYNC2H1 mutations are the most frequent overall cause of ATD. </p><p>Using exome sequencing, Badiner et al. (2017) identified 3 patients with a severe phenotype thought to be most consistent with short-rib polydactyly type I. All 3 patients were compound heterozygous for mutations in DYNC2H1; 5 of the mutations were missense changes at highly conserved residues, and 1 was a null mutation. All of the mutations were rare, including 4 that had not previously been reported in public sequence databases or in patients with short-rib polydactyly. </p>
</span>
<div>
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<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
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<span class="mim-text-font">
<p>The short rib-polydactyly syndromes (SRPS) were defined as a group of autosomal recessive lethal skeletal dysplasias characterized by markedly short ribs, short limbs, polydactyly, and multiple anomalies of major organs, including heart, intestines, genitalia, kidney, liver, and pancreas. There is phenotypic overlap in various forms of SRPS (summary by Elcioglu and Hall, 2002). Five types had been distinguished: SRPS I (Saldino-Noonan type); SRPS II (Majewski type), SRPS III (Verma-Naumoff type), SRPS IV (Beemer-Langer type), and SRPS V (Elcioglu and Hall, 2002; Mill et al., 2011). </p><p>Because of speculation that ATD and SRPS type III represent the severe end of the Ellis-van Creveld syndrome spectrum, Krakow et al. (2000) performed linkage analysis using markers from the EVC region on 4p in 7 families manifesting either ATD or SRPS type III. In 2 of the families, 1 segregating ATD and the other SRPS, linkage of the phenotype to the EVC region was excluded. </p><p>The question of SRPS III being due to disruption of a gene in the 4p16 region where EVC maps was raised by Urioste et al. (1994), but was excluded in one family with SRPS III by linkage analysis (Krakow et al., 2000). Takamine et al. (2004) sequenced all 21 coding exons and flanking intron sequences of the EVC1 gene (604831) in 10 unrelated cases of SRPS III and found no mutations interpreted as pathologic. </p>
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<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Lowry and Wignall (1975); Naumoff (1980); Spranger et al. (1974)
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
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</h4>
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<div>
<ol>
<li>
<p class="mim-text-font">
Badiner, N., Taylor, S. P., Forlenza, K., Lachman, R. S., University of Washington Center for Mendelian Genomics, Bamshad, M., Nickerson, D., Cohn, D. H., Krakow, D.
<strong>Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.</strong>
Clin. Genet. 92: 158-165, 2017.
[PubMed: 27925158]
[Full Text: https://doi.org/10.1111/cge.12947]
</p>
</li>
<li>
<p class="mim-text-font">
Bernstein, R., Isdale, J., Pinto, M., Zaaijman, J. T., Jenkins, T.
<strong>Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.</strong>
J. Med. Genet. 22: 46-53, 1985.
[PubMed: 3981580]
[Full Text: https://doi.org/10.1136/jmg.22.1.46]
</p>
</li>
<li>
<p class="mim-text-font">
Dagoneau, N., Goulet, M., Genevieve, D., Sznajer, Y., Martinovic, J., Smithson, S., Huber, C., Baujat, G., Flori, E., Tecco, L., Cavalcanti, D., Delezoide, A.-L., Serre, V., Le Merrer, M., Munnich, A., Cormier-Daire, V.
<strong>DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.</strong>
Am. J. Hum. Genet. 84: 706-711, 2009.
[PubMed: 19442771]
[Full Text: https://doi.org/10.1016/j.ajhg.2009.04.016]
</p>
</li>
<li>
<p class="mim-text-font">
El Hokayem, J., Huber, C., Couve, A., Aziza, J., Baujat, G., Bouvier, R., Cavalcanti, D. P., Collins, F. A., Cordier, M.-P., Delezoide, A.-L., Gonzales, M., Johnson, D., and 11 others.
<strong>NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.</strong>
J. Med. Genet. 49: 227-233, 2012.
[PubMed: 22499340]
[Full Text: https://doi.org/10.1136/jmedgenet-2011-100717]
</p>
</li>
<li>
<p class="mim-text-font">
Elcioglu, N. H., Hall, C. M.
<strong>Diagnostic dilemmas in the short rib-polydactyly syndrome group.</strong>
Am. J. Med. Genet. 111: 392-400, 2002.
[PubMed: 12210298]
[Full Text: https://doi.org/10.1002/ajmg.10562]
</p>
</li>
<li>
<p class="mim-text-font">
Ho, N. C., Francomano, C. A., van Allen, M.
<strong>Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder.</strong>
Am. J. Med. Genet. 90: 310-314, 2000.
[PubMed: 10710229]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(20000214)90:4&lt;310::aid-ajmg9&gt;3.0.co;2-n]
</p>
</li>
<li>
<p class="mim-text-font">
Huber, C., Cormier-Daire, V.
<strong>Ciliary disorder of the skeleton.</strong>
Am. J. Med. Genet. 160C: 165-174, 2012.
[PubMed: 22791528]
[Full Text: https://doi.org/10.1002/ajmg.c.31336]
</p>
</li>
<li>
<p class="mim-text-font">
Krakow, D., Salazar, D., Wilcox, W. R., Rimoin, D. L., Cohn, D. H.
<strong>Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.</strong>
Europ. J. Hum. Genet. 8: 645-648, 2000.
[PubMed: 10951528]
[Full Text: https://doi.org/10.1038/sj.ejhg.5200507]
</p>
</li>
<li>
<p class="mim-text-font">
Lowry, R. B., Wignall, N.
<strong>Saldino-Noonan short rib-polydactyly dwarfism syndrome.</strong>
Pediatrics 56: 121-122, 1975.
[PubMed: 1153245]
</p>
</li>
<li>
<p class="mim-text-font">
Marec, B. L., Passarge, E., Dellenbach, P., Kerisit, J., Signargout, J., Ferrand, B., Senecal, J.
<strong>Les formes neonatales lethales de la dysplasie chondro-ectodermique.</strong>
Ann. Radiol. 16: 19-26, 1973.
[PubMed: 4734687]
</p>
</li>
<li>
<p class="mim-text-font">
Martinez-Frias, M.-L., Bermejo, E., Urioste, M., Huertas, H., Arroyo, I.
<strong>Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum.</strong>
J. Med. Genet. 30: 937-941, 1993.
[PubMed: 8301649]
[Full Text: https://doi.org/10.1136/jmg.30.11.937]
</p>
</li>
<li>
<p class="mim-text-font">
Meizner, I., Barnhard, Y.
<strong>Short-rib polydactyly syndrome (SRPS) type III diagnosed during routine prenatal ultrasonographic screening: a case report.</strong>
Prenatal Diag. 15: 665-668, 1995.
[PubMed: 8532628]
[Full Text: https://doi.org/10.1002/pd.1970150713]
</p>
</li>
<li>
<p class="mim-text-font">
Merrill, A. E., Merriman, B., Farrington-Rock, C., Camacho, N., Sebald, E. T., Funari, V. A., Schibler, M. J., Firestein, M. H., Cohn, Z. A., Priore, M. A., Thompson, A. K., Rimoin, D. L., Nelson, S. F., Cohn, D. H., Krakow, D.
<strong>Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short rib-polydactyly syndrome.</strong>
Am. J. Hum. Genet. 84: 542-549, 2009.
[PubMed: 19361615]
[Full Text: https://doi.org/10.1016/j.ajhg.2009.03.015]
</p>
</li>
<li>
<p class="mim-text-font">
Mill, P., Lockhart, P. J., Fitzpatrick, E., Mountford, H. S., Hall, E. A., Reijns, M. A. M., Kreighren, M., Bahlo, M., Bromhead, C. J., Budd, P., Aftimos, S., Delatycki, M. B., Savarirayan, R., Jackson, I. J., Amor, D. J.
<strong>Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.</strong>
Am. J. Hum. Genet. 88: 508-515, 2011.
[PubMed: 21473986]
[Full Text: https://doi.org/10.1016/j.ajhg.2011.03.015]
</p>
</li>
<li>
<p class="mim-text-font">
Naumoff, P., Young, L. W., Mazer, J., Amortegui, A. J.
<strong>Short-rib-polydactyly syndrome type III.</strong>
Radiology 122: 443-447, 1977.
[PubMed: 834893]
[Full Text: https://doi.org/10.1148/122.2.443]
</p>
</li>
<li>
<p class="mim-text-font">
Naumoff, P.
<strong>Personal Communication.</strong>
Pittsburgh, Pa. 2/18/1980.
</p>
</li>
<li>
<p class="mim-text-font">
Richardson, M. M., Beaudet, A. L., Wagner, M. L., Malini, S., Rosenberg, H. S., Lucci, J. A., Jr.
<strong>Prenatal diagnosis of recurrence of Saldino-Noonan dwarfism.</strong>
J. Pediat. 91: 467-471, 1977.
[PubMed: 894422]
[Full Text: https://doi.org/10.1016/s0022-3476(77)81327-9]
</p>
</li>
<li>
<p class="mim-text-font">
Saldino, R. M., Noonan, C. D.
<strong>Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral abnormalities.</strong>
Am. J. Roentgen. Radium Ther. Nucl. Med. 114: 257-263, 1972.
[PubMed: 5058513]
[Full Text: https://doi.org/10.2214/ajr.114.2.257]
</p>
</li>
<li>
<p class="mim-text-font">
Sarafoglou, K., Funai, E. F., Fefferman, N., Zajac, L., Geneiser, N., Paidas, M. J., Greco, A., Wallerstein, R.
<strong>Short rib-polydactyly syndrome: more evidence of a continuous spectrum.</strong>
Clin. Genet. 56: 145-148, 1999.
[PubMed: 10517252]
[Full Text: https://doi.org/10.1034/j.1399-0004.1999.560209.x]
</p>
</li>
<li>
<p class="mim-text-font">
Schmidts, M., Arts, H. H., Bongers, E. M. H. F., Yap, Z., Oud, M. M., Antony, D., Duijkers, L., Emes, R. D., Stalker, J., Yntema, J.-B. L., Plagnol, V., Hoischen, A., and 23 others.
<strong>Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.</strong>
J. Med. Genet. 50: 309-323, 2013.
[PubMed: 23456818]
[Full Text: https://doi.org/10.1136/jmedgenet-2012-101284]
</p>
</li>
<li>
<p class="mim-text-font">
Schmidts, M., Vodopiutz, J., Christou-Savina, S., Cortes, C. R., McInerney-Leo, A. M., Emes, R. D., Arts, H. H., Tuysuz, B., D'Silva, J., Leo, P. J., Giles, T. C., Oud, M. M., and 23 others.
<strong>Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.</strong>
Am. J. Hum. Genet. 93: 932-944, 2013.
[PubMed: 24183451]
[Full Text: https://doi.org/10.1016/j.ajhg.2013.10.003]
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<p class="mim-text-font">
Sillence, D. O.
<strong>Non-Majewski short rib-polydactyly syndrome. (Editorial)</strong>
Am. J. Med. Genet. 7: 223-229, 1980.
[PubMed: 7468650]
[Full Text: https://doi.org/10.1002/ajmg.1320070215]
</p>
</li>
<li>
<p class="mim-text-font">
Spranger, J. W., Grimm, B., Weller, M., Weibenbacher, G., Herrmann, J., Gilbert, E. F., Krepler, R.
<strong>Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan.</strong>
Z. Kinderheilk. 116: 73-94, 1974.
[PubMed: 4816160]
[Full Text: https://doi.org/10.1007/BF00491508]
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<p class="mim-text-font">
Spranger, J.
<strong>Personal Communication.</strong>
Mainz, Germany 11/24/1981.
</p>
</li>
<li>
<p class="mim-text-font">
Takamine, Y., Krejci, P., Mekikian, P. B., Wilcox, W. R.
<strong>Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes. (Letter)</strong>
Am. J. Med. Genet. 130A: 96-97, 2004.
[PubMed: 15368503]
[Full Text: https://doi.org/10.1002/ajmg.a.20579]
</p>
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<li>
<p class="mim-text-font">
Thiel, C., Kessler, K., Giessl, A., Dimmler, A., Shalev, S. A., von der Haar, S., Zenker, M., Zahnleiter, D., Stoss, H., Beinder, E., Abou Jamra, R., Ekici, A. B., Schroder-Kress, N., Aigner, T., Kirchner, T., Reis, A., Brandstatter, J. H., Rauch, A.
<strong>NEK1 mutations cause short-rib polydactyly syndrome type Majewski.</strong>
Am. J. Hum. Genet. 88: 106-114, 2011.
[PubMed: 21211617]
[Full Text: https://doi.org/10.1016/j.ajhg.2010.12.004]
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Urioste, M., Martinez-Frias, M. L., Bermejo, E., Jimenez, N., Romero, D., Nieto, C., Villa, A.
<strong>Short rib-polydactyly syndrome and pericentric inversion of chromosome 4.</strong>
Am. J. Med. Genet. 49: 94-97, 1994.
[PubMed: 7909650]
[Full Text: https://doi.org/10.1002/ajmg.1320490118]
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<p class="mim-text-font">
Verma, I. C., Bhargava, S., Agarwal, S.
<strong>An autosomal recessive form of lethal chondrodystrophy with severe thoracic narrowing, rhizoacromelic type of micromelia, polydactyly and genital anomalies.</strong>
Birth Defects Orig. Art. Ser. XI(6): 167-174, 1975.
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<p class="mim-text-font">
Wu, M.-H., Kuo, P.-L., Lin, S.-J.
<strong>Prenatal diagnosis of recurrence of short rib-polydactyly syndrome.</strong>
Am. J. Med. Genet. 55: 279-284, 1995.
[PubMed: 7726223]
[Full Text: https://doi.org/10.1002/ajmg.1320550307]
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Yang, S. S., Langer, L. O., Jr., Cacciarelli, A., Dahms, B. B., Unger, E. R., Roskamp, J., Dinno, N. D., Chen, H.
<strong>Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study.</strong>
Am. J. Med. Genet. Suppl. 3: 191-207, 1987.
[PubMed: 3130854]
[Full Text: https://doi.org/10.1002/ajmg.1320280523]
</p>
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<p class="mim-text-font">
Yang, S. S., Lin, C.-S., Al Saadi, A., Nangia, B. S., Bernstein, J.
<strong>Short rib-polydactyly syndrome, type 3 with chondrocytic inclusions: report of a case and review of the literature.</strong>
Am. J. Med. Genet. 7: 205-213, 1980.
[PubMed: 7468648]
[Full Text: https://doi.org/10.1002/ajmg.1320070213]
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