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<title>
Entry
- #215100 - RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1
- OMIM
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<span class="h4">#215100</span>
<br />
<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/215100"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS214100,PS215100"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#nomenclature">Nomenclature</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalManagement">Clinical Management</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=3567&Typ=Pat" title="Rhizomelic chondrodysplasia punctata" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Rhizomelic chondrodysplasi…&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=21388&Typ=Pat" title="Rhizomelic chondrodysplasia punctata type 1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Rhizomelic chondrodysplasi…&nbsp;</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1270/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=177" title="Rhizomelic chondrodysplasia punctata" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Rhizomelic chondrodysplasi…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=309789" title="Rhizomelic chondrodysplasia punctata type 1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Rhizomelic chondrodysplasi…</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div style="display: table-cell;">Cell Lines</div>
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:215100" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 1003862001, 56692003<br />
<strong>ICD10CM:</strong> E71.540<br />
<strong>ORPHA:</strong> 177, 309789<br />
<strong>DO:</strong> 0110851<br />
">ICD+</a>
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<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
215100
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<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1
</span>
</h3>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
PEROXISOME BIOGENESIS DISORDER 9; PBD9<br />
CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC FORM; CDPR<br />
CHONDRODYSTROPHIA CALCIFICANS PUNCTATA
</span>
</h4>
</div>
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<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/889?start=-3&limit=10&highlight=889">
6q23.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Rhizomelic chondrodysplasia punctata, type 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/215100"> 215100 </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">
PEX7
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601757"> 601757 </a>
</span>
</td>
</tr>
</tbody>
</table>
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<a href="/clinicalSynopsis/215100" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<a href="/phenotypicSeries/PS214100,PS215100" class="btn btn-info" role="button"> Phenotypic Series </a>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/215100" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/215100" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Dwarfism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</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>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Severe failure to thrive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001525" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001525</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001525" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001525</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Flat face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853241&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853241</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012368</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012368</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9ba328482ffd2d39f0d1071965725b03" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Face,Flat-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9ba328482ffd2d39f0d1071965725b03&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 /> -
Frontal bossing <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90145001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90145001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221354</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Frontal_Bossing-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Micrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Micrognathia-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Sensorineural deafness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Congenital cataracts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/79410001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">79410001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q12.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q12.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009691&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009691</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000519</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000519</a>]</span><br /> -
Upward slanting palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246799009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246799009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423109&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423109</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000582" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000582</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000582" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000582</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Low nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836542&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836542</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nasal_Bridge,Depressed-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cleft palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837218</a>, <a href="https://bioportal.bioontology.org/search?q=C2981150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2981150</a>, <a href="https://bioportal.bioontology.org/search?q=C2240378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240378</a>, <a href="https://bioportal.bioontology.org/search?q=C0008925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Lung </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Respiratory insufficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409622000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409622000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409623005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409623005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J96.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J96.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1145670&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1145670</a>, <a href="https://bioportal.bioontology.org/search?q=C0035229&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035229</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002878" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002878</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002093</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002093</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Calcific stippling of infantile cartilaginous skeleton <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859135&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859135</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005841" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005841</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005841" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005841</a>]</span><br /> -
Disappearance of stippling in first year of life <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859136&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859136</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Coronal cleft of vertebrae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834954&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834954</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003417</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003417</a>]</span><br /> -
Kyphoscoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405771009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405771009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405772002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405772002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405773007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405773007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0600033&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0600033</a>, <a href="https://bioportal.bioontology.org/search?q=C0575158&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575158</a>, <a href="https://bioportal.bioontology.org/search?q=C0345392&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345392</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002751</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0008453" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008453</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002751</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">
- Joint contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7890003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7890003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/718.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.4</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/718.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009918&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009918</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034392" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034392</a>]</span><br /> -
Symmetrical rhizomelic limb shortening <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866730&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866730</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008905" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008905</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008905" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008905</a>]</span><br /> -
Metaphyseal splaying <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850135&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850135</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003015</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003015</a>]</span><br /> -
Epiphyseal calcification <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859140&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859140</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Ichthyosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/782957005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">782957005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13059002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13059002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/757.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">757.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020758</a>, <a href="https://bioportal.bioontology.org/search?q=C0020757&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020757</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008064" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008064</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008064" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008064</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Alopecia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278040002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278040002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56317004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56317004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L65.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L65.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/704.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/704.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002170&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002170</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001596" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001596</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002293" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002293</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001596" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001596</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">
- Mental retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
Spasticity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/221360009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">221360009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397790002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397790002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026838</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span><br /> -
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
Severe delay in myelination <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859134</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/135810007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">135810007</a>]</span><br /> -
Cortical atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278849000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278849000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551583&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551583</a>, <a href="https://bioportal.bioontology.org/search?q=C0235946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002120" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002120</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002120" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002120</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">
- Plasmalogen deficiency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859141&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859141</a>]</span><br /> -
Acyl-CoA:dihydroxyacetonephosphate acyltransferase deficiency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859142&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859142</a>]</span><br /> -
Elevated plasma phytanic acid <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859143&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859143</a>]</span><br /> -
Unprocessed 3-oxoacyl CoA thiolase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859144&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859144</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">
- Majority of children die before age 2<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 mutations in the peroxisomal biogenesis factor-7 gene (PEX7, <a href="/entry/601757#0001">601757.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Peroxisome biogenesis disorder
- <a href="/phenotypicSeries/PS214100">PS214100</a>
- 27 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/68?start=-3&limit=10&highlight=68"> 1p36.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614871"> Peroxisome biogenesis disorder 6B </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/614871"> 614871 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602859"> PEX10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602859"> 602859 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/68?start=-3&limit=10&highlight=68"> 1p36.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614870"> Peroxisome biogenesis disorder 6A (Zellweger) </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/614870"> 614870 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602859"> PEX10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602859"> 602859 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/140?start=-3&limit=10&highlight=140"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614887"> Peroxisome biogenesis disorder 13A (Zellweger) </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/614887"> 614887 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601791"> PEX14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601791"> 601791 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1024?start=-3&limit=10&highlight=1024"> 1q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614920"> Peroxisome biogenesis disorder 14B </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/614920"> 614920 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603867"> PEX11B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603867"> 603867 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1315?start=-3&limit=10&highlight=1315"> 1q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614886"> Peroxisome biogenesis disorder 12A (Zellweger) </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/614886"> 614886 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600279"> PEX19 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600279"> 600279 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/279?start=-3&limit=10&highlight=279"> 2p15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614883"> Peroxisome biogenesis disorder 11A (Zellweger) </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/614883"> 614883 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601789"> PEX13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601789"> 601789 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/279?start=-3&limit=10&highlight=279"> 2p15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614885"> Peroxisome biogenesis disorder 11B </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/614885"> 614885 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601789"> PEX13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601789"> 601789 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/509?start=-3&limit=10&highlight=509"> 6p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614863"> Peroxisome biogenesis disorder 4B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <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/614863"> 614863 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601498"> PEX6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601498"> 601498 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/509?start=-3&limit=10&highlight=509"> 6p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614862"> Peroxisome biogenesis disorder 4A (Zellweger) </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/614862"> 614862 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601498"> PEX6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601498"> 601498 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/509?start=-3&limit=10&highlight=509"> 6p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616617"> Heimler syndrome 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616617"> 616617 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601498"> PEX6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601498"> 601498 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/889?start=-3&limit=10&highlight=889"> 6q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614879"> Peroxisome biogenesis disorder 9B </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/614879"> 614879 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601757"> PEX7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601757"> 601757 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/889?start=-3&limit=10&highlight=889"> 6q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/215100"> Rhizomelic chondrodysplasia punctata, type 1 </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/215100"> 215100 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601757"> PEX7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601757"> 601757 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/916?start=-3&limit=10&highlight=916"> 6q24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614882"> Peroxisome biogenesis disorder 10A (Zellweger) </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/614882"> 614882 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603164"> PEX3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603164"> 603164 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/916?start=-3&limit=10&highlight=916"> 6q24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617370"> ?Peroxisome biogenesis disorder 10B </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/617370"> 617370 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603164"> PEX3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603164"> 603164 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/410?start=-3&limit=10&highlight=410"> 7q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/214100"> Peroxisome biogenesis disorder 1A (Zellweger) </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/214100"> 214100 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602136"> PEX1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602136"> 602136 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/410?start=-3&limit=10&highlight=410"> 7q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/234580"> Heimler syndrome 1 </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/234580"> 234580 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602136"> PEX1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602136"> 602136 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/410?start=-3&limit=10&highlight=410"> 7q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601539"> Peroxisome biogenesis disorder 1B (NALD/IRD) </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/601539"> 601539 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602136"> PEX1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602136"> 602136 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/356?start=-3&limit=10&highlight=356"> 8q21.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614867"> Peroxisome biogenesis disorder 5B </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/614867"> 614867 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/170993"> PEX2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/170993"> 170993 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/356?start=-3&limit=10&highlight=356"> 8q21.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614866"> Peroxisome biogenesis disorder 5A (Zellweger) </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/614866"> 614866 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/170993"> PEX2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/170993"> 170993 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/339?start=-3&limit=10&highlight=339"> 11p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614876"> Peroxisome biogenesis disorder 8A (Zellweger) </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/614876"> 614876 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603360"> PEX16 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603360"> 603360 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/339?start=-3&limit=10&highlight=339"> 11p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614877"> Peroxisome biogenesis disorder 8B </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/614877"> 614877 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603360"> PEX16 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603360"> 603360 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/94?start=-3&limit=10&highlight=94"> 12p13.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/214110"> Peroxisome biogenesis disorder 2A (Zellweger) </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/214110"> 214110 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600414"> PEX5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600414"> 600414 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/94?start=-3&limit=10&highlight=94"> 12p13.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/202370"> Peroxisome biogenesis disorder 2B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/202370"> 202370 </a>
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<span class="mim-font">
<a href="/entry/600414"> PEX5 </a>
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<span class="mim-font">
<a href="/entry/600414"> 600414 </a>
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<span class="mim-font">
<a href="/geneMap/17/424?start=-3&limit=10&highlight=424"> 17q12 </a>
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<span class="mim-font">
<a href="/entry/266510"> Peroxisome biogenesis disorder 3B </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/266510"> 266510 </a>
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<span class="mim-font">
<a href="/entry/601758"> PEX12 </a>
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<span class="mim-font">
<a href="/entry/601758"> 601758 </a>
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<span class="mim-font">
<a href="/geneMap/17/424?start=-3&limit=10&highlight=424"> 17q12 </a>
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<span class="mim-font">
<a href="/entry/614859"> Peroxisome biogenesis disorder 3A (Zellweger) </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/614859"> 614859 </a>
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<span class="mim-font">
<a href="/entry/601758"> PEX12 </a>
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<span class="mim-font">
<a href="/entry/601758"> 601758 </a>
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<span class="mim-font">
<a href="/geneMap/22/26?start=-3&limit=10&highlight=26"> 22q11.21 </a>
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<span class="mim-font">
<a href="/entry/614873"> Peroxisome biogenesis disorder 7B </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/614873"> 614873 </a>
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<span class="mim-font">
<a href="/entry/608666"> PEX26 </a>
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<span class="mim-font">
<a href="/entry/608666"> 608666 </a>
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<span class="mim-font">
<a href="/geneMap/22/26?start=-3&limit=10&highlight=26"> 22q11.21 </a>
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<span class="mim-font">
<a href="/entry/614872"> Peroxisome biogenesis disorder 7A (Zellweger) </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/614872"> 614872 </a>
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<span class="mim-font">
<a href="/entry/608666"> PEX26 </a>
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<span class="mim-font">
<a href="/entry/608666"> 608666 </a>
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<h5>
Rhizomelic chondrodysplasia punctata
- <a href="/phenotypicSeries/PS215100">PS215100</a>
- 4 Entries
</h5>
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<strong>Location</strong>
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<strong>Phenotype</strong>
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<strong>Inheritance</strong>
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<strong>Phenotype<br />mapping key</strong>
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<strong>Phenotype<br />MIM number</strong>
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<strong>Gene/Locus</strong>
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<strong>Gene/Locus<br />MIM number</strong>
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<td>
<span class="mim-font">
<a href="/geneMap/1/1798?start=-3&limit=10&highlight=1798"> 1q42.2 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/222765"> Rhizomelic chondrodysplasia punctata, type 2 </a>
</span>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/222765"> 222765 </a>
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<span class="mim-font">
<a href="/entry/602744"> GNPAT </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/602744"> 602744 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/812?start=-3&limit=10&highlight=812"> 2q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600121"> Rhizomelic chondrodysplasia punctata, type 3 </a>
</span>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/600121"> 600121 </a>
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<span class="mim-font">
<a href="/entry/603051"> AGPS </a>
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<span class="mim-font">
<a href="/entry/603051"> 603051 </a>
</span>
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</tr>
<tr>
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<span class="mim-font">
<a href="/geneMap/6/889?start=-3&limit=10&highlight=889"> 6q23.3 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/215100"> Rhizomelic chondrodysplasia punctata, type 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/215100"> 215100 </a>
</span>
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<span class="mim-font">
<a href="/entry/601757"> PEX7 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/601757"> 601757 </a>
</span>
</td>
</tr>
<tr>
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<span class="mim-font">
<a href="/geneMap/12/94?start=-3&limit=10&highlight=94"> 12p13.31 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/616716"> Rhizomelic chondrodysplasia punctata, type 5 </a>
</span>
</td>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/616716"> 616716 </a>
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<span class="mim-font">
<a href="/entry/600414"> PEX5 </a>
</span>
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<span class="mim-font">
<a href="/entry/600414"> 600414 </a>
</span>
</td>
</tr>
</tbody>
</table>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<p>A number sign (#) is used with this entry because of evidence that rhizomelic chondrodysplasia punctata type 1 (RCDP1) is caused by homozygous or compound heterozygous mutation in the PEX7 gene (<a href="/entry/601757">601757</a>), which encodes the peroxisomal type 2 targeting signal (PTS2) receptor, on chromosome 6q23.</p><p>Mutations in the PEX7 gene can also cause an atypical phenotype with longer survival and less neurologic involvement than rhizomelic chondrodysplasia punctata, normal or near-normal growth, and absence of rhizomelia (see PBD9B, <a href="/entry/614879">614879</a>).</p>
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<a id="description" class="mim-anchor"></a>
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<strong>Description</strong>
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<p>Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by <a href="#43" class="mim-tip-reference" title="Wanders, R. J. A., Waterham, H. R. &lt;strong&gt;Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders.&lt;/strong&gt; Clin. Genet. 67: 107-133, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15679822/&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;15679822&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2004.00329.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="15679822">Wanders and Waterham, 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15679822" 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>Individuals with RCDP1, carrying mutations in the PEX7 gene, have cells of peroxisome biogenesis disorder (PBD) complementation group 11 (CG11, equivalent to CGR). For information on the history of PBD complementation groups, see <a href="/entry/214100">214100</a>.</p><p><strong><em>Genetic Heterogeneity of Rhizomelic Chondrodysplasia Punctata</em></strong></p><p>
RCDP2 (<a href="/entry/222765">222765</a>) is caused by mutation in the gene encoding acyl-CoA:dihydroxyacetonephosphate acyltransferase (GNPAT; <a href="/entry/602744">602744</a>) on chromosome 1q42. RCDP3 (<a href="/entry/600121">600121</a>) is caused by mutation in the gene encoding alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) (AGPS; <a href="/entry/603051">603051</a>) on chromosome 2q31. RCDP5 (<a href="/entry/616716">616716</a>) is caused by mutation in the gene encoding peroxisomal biogenesis factor-5 (PEX5; <a href="/entry/600414">600414</a>) on chromosome 12p13.</p><p>Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 and RCDP3 are classified as single peroxisome enzyme deficiencies (<a href="#45" class="mim-tip-reference" title="Waterham, H. R., Ebberink, M. S. &lt;strong&gt;Genetics and molecular basis of human peroxisome biogenesis disorders.&lt;/strong&gt; Biochim. Biophys. Acta 1822: 1430-1441, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22871920/&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;22871920&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.bbadis.2012.04.006&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="22871920">Waterham and Ebberink, 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22871920" 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>Nomenclature</strong>
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<p><a href="#3" class="mim-tip-reference" title="Baroy, T., Koster, J., Stromme, P., Ebberink, M. S., Misceo, D., Ferdinandusse, S., Holmgren, A., Hughes, T., Merckoll, E., Westvik, J., Woldseth, B., Walter, J., Wood, N., Tvedt, B., Stadskleiv, K., Wanders, R. J. A., Waterham, H. R., Frengen, E. &lt;strong&gt;A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.&lt;/strong&gt; Hum. Molec. Genet. 24: 5845-5854, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26220973/&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;26220973&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddv305&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="26220973">Baroy et al. (2015)</a> called the peroxisomal fatty acyl-CoA reductase 1 disorder (PFCRD; <a href="/entry/616154">616154</a>) RCDP4 despite the fact that patients with PFCRD do not have the characteristic skeletal abnormalities observed in RCDP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26220973" 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>Rhizomelic chondrodysplasia punctata is a rare, multisystem, developmental disorder, characterized by severe bilateral shortening and metaphyseal changes of femora and/or humeri, microcephaly, characteristic facial features, and severe psychomotor retardation and spasticity. Cataracts are present in about 72% of cases, and skin changes in about 28% (<a href="#37" class="mim-tip-reference" title="Spranger, J. W., Opitz, J. M., Bidder, U. &lt;strong&gt;Heterogeneity of chondrodysplasia punctata.&lt;/strong&gt; Humangenetik 11: 190-212, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5544780/&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;5544780&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00274739&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="5544780">Spranger et al., 1971</a>). The coronal cleft of the vertebral bodies is demonstrable radiologically and appears to represent embryonic arrest with cartilage occupying the cleft between the anterior and posterior parts of the vertebral bodies (<a href="#46" class="mim-tip-reference" title="Wells, T. R., Landing, B. H., Bostwick, F. H. &lt;strong&gt;Studies of vertebral coronal cleft in rhizomelic chondrodysplasia punctata.&lt;/strong&gt; Pediat. Path. 12: 593-600, 1992. Note: Erratum: Pediat. Path. 13: 123 only, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1409157/&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;1409157&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.3109/15513819209024210&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="1409157">Wells et al., 1992</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5544780+1409157" 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 are several different disorders with similar punctate cartilaginous changes, e.g., X-linked chondrodysplasia punctata (see <a href="/entry/302960">302960</a>); the multiple forms of the Zellweger syndrome (see <a href="/entry/214100">214100</a>); maternal ingestion of certain anticoagulants (dicoumarol or warfarin; <a href="/entry/118650">118650</a>) in early pregnancy; and even occasionally trisomy 18 (<a href="#34" class="mim-tip-reference" title="Rosenfield, R. L., Breibart, S., Isaacs, H., Klevit, H. D., Mellman, W. J. &lt;strong&gt;Trisomy of chromosomes 13-15 and 17-18: its association with infantile arteriosclerosis.&lt;/strong&gt; Am. J. Med. Sci. 244: 763-779, 1962.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13974938/&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;13974938&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00000441-196212000-00014&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="13974938">Rosenfield et al., 1962</a>). Thus, care must be taken in diagnosing an infant or child presenting with punctate calcifications (<a href="#37" class="mim-tip-reference" title="Spranger, J. W., Opitz, J. M., Bidder, U. &lt;strong&gt;Heterogeneity of chondrodysplasia punctata.&lt;/strong&gt; Humangenetik 11: 190-212, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5544780/&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;5544780&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00274739&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="5544780">Spranger et al., 1971</a>). The combination of punctate calcifications, rhizomelia, and the biochemical abnormalities (deficient red cell plasmalogens and accumulation of phytanic acid) is pathognomic for RCDP (<a href="#43" class="mim-tip-reference" title="Wanders, R. J. A., Waterham, H. R. &lt;strong&gt;Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders.&lt;/strong&gt; Clin. Genet. 67: 107-133, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15679822/&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;15679822&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2004.00329.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="15679822">Wanders and Waterham, 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5544780+13974938+15679822" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Melnick, J. C. &lt;strong&gt;Chondrodystrophia calcificans congenita (chondrodysplasia epiphysialis punctata, stippled epiphyses).&lt;/strong&gt; Am. J. Dis. Child. 110: 218-225, 1965.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14320779/&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;14320779&lt;/a&gt;]" pmid="14320779">Melnick (1965)</a> observed a child with punctate calcifications in the offspring of a father-daughter mating. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14320779" 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>Early literature on CDP is confusing because the heterogeneous etiology of punctate calcifications was not recognized. For example, the evolution of punctate calcifications in early life into multiple epiphyseal dysplasia was observed by <a href="#36" class="mim-tip-reference" title="Silverman, F. N. &lt;strong&gt;Dysplasies epiphysaires: entite proteiforme.&lt;/strong&gt; Ann. Radiol. 4: 833-867, 1961.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13912929/&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;13912929&lt;/a&gt;]" pmid="13912929">Silverman (1961)</a> and the inheritance seemed to be dominant; thus it is likely that an entity (or entities) other than RCDP was represented (see <a href="/entry/118650">118650</a>). Fifteen-year follow-up of a heterogeneous group of patients with punctate calcifications was provided by <a href="#8" class="mim-tip-reference" title="Comings, D. E., Papazian, C., Schoene, H. R. &lt;strong&gt;Conradi&#x27;s disease (chondrodystrophia calcificans congenita, congenital stippled epiphyses).&lt;/strong&gt; J. Pediat. 72: 63-69, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5634939/&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;5634939&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(68)80401-9&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="5634939">Comings et al. (1968)</a>. Saddle nose secondary to involvement of the facial bones was noted in about 40% of cases in a series of cases of punctate calcifications according to <a href="#14" class="mim-tip-reference" title="Fritsch, H., Manzke, H. &lt;strong&gt;Beitrag zur Chondrodystrophia calcificans connata (Conradi-Hunermann-Syndrom).&lt;/strong&gt; Arch. Kinderheilk. 169: 235-254, 1963.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14118591/&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;14118591&lt;/a&gt;]" pmid="14118591">Fritsch and Manzke (1963)</a> and is more typical of warfarin embryopathy. In Australia this feature led to the designation koala bear syndrome (<a href="#9" class="mim-tip-reference" title="Danks, D. M. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Melbourne, Australia 1970."None>Danks, 1970</a>). It was the suggestion of a group convened in Paris by the European Society of Pediatric Radiology that this phenotype be called chondrodysplasia punctata (<a href="#25" class="mim-tip-reference" title="Maroteaux, P. &lt;strong&gt;Nomenclature internationale des maladies osseuses constitutionelles.&lt;/strong&gt; Ann. Radiol. 13: 455-464, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5449618/&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;5449618&lt;/a&gt;]" pmid="5449618">Maroteaux, 1970</a>). They suggested that cases labeled as chondrodystrophia calcificans by <a href="#10" class="mim-tip-reference" title="De Lange, C., Janssen, T. &lt;strong&gt;Congenital chondrodystrophia calcificans of infant in association with other abnormalities: case.&lt;/strong&gt; Maandschr. Kindergeneesk. 17: 67-74, 1949."None>De Lange and Janssen (1949)</a>, <a href="#15" class="mim-tip-reference" title="Gekle, D. &lt;strong&gt;Ein Beitrag zum Problem der Chondrodystrophia calcificans congenita.&lt;/strong&gt; Arch. Kinderheilk. 169: 267-273, 1963.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14118593/&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;14118593&lt;/a&gt;]" pmid="14118593">Gekle (1963)</a>, <a href="#29" class="mim-tip-reference" title="Phillips, L. I. &lt;strong&gt;Chondrodystrophia calcificans congenita.&lt;/strong&gt; New Zeal. Med. J. 56: 22-27, 1957.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13419080/&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;13419080&lt;/a&gt;]" pmid="13419080">Phillips (1957)</a> (case 2), and <a href="#33" class="mim-tip-reference" title="Putschar, W. G. J. &lt;strong&gt;Chondrodystrophia calcificans congenita (dysplasia epiphysialis punctata).&lt;/strong&gt; Bull. Hosp. Joint Dis. 12: 514-527, 1951.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14905128/&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;14905128&lt;/a&gt;]" pmid="14905128">Putschar (1951)</a> actually included patients with Zellweger syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5449618+13912929+13419080+14118593+5634939+14905128+14118591" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Happle, R. &lt;strong&gt;Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata.&lt;/strong&gt; Clin. Genet. 19: 64-66, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7460383/&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;7460383&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1981.tb00669.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="7460383">Happle (1981)</a> suggested that cataracts are consistently absent in the autosomal dominant form of chondrodysplasia punctata (<a href="/entry/118650">118650</a>) and present in about two-thirds of the rhizomelic and X-linked dominant (<a href="/entry/302950">302950</a>) forms. In the rhizomelic form, the opacities tend to be bilateral and symmetric; in the X-linked form, they are usually asymmetric and often unilateral. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7460383" 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="Gray, R. G. F., Green, A., Chapman, S., McKeown, C., Schutgens, R. B. H., Wanders, R. J. A. &lt;strong&gt;Rhizomelic chondrodysplasia punctata--a new clinical variant.&lt;/strong&gt; J. Inherit. Metab. Dis. 15: 931-932, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1293391/&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;1293391&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01800236&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="1293391">Gray et al. (1992)</a> reported an affected female, the offspring of first-cousin parents, who had no punctate calcification evident at birth, although there was coronal clefting of the vertebrae. Early cataract formation was evident by 18 weeks, and at 8 months of age a further skeletal survey revealed traces of punctate calcification of the epiphyses and spine. The patient had pulmonary stenosis and atrial septal defect. The electroretinogram was grossly abnormal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1293391" 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="Heymans, H. S. A., Oorthuys, J. W. E., Nelck, G., Wanders, R. J. A., Schutgens, R. B. H. &lt;strong&gt;Rhizomelic chondrodysplasia punctata: another peroxisomal disorder. (Letter)&lt;/strong&gt; New Eng. J. Med. 313: 187-188, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4010717/&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;4010717&lt;/a&gt;]" pmid="4010717">Heymans et al. (1985)</a> first suggested that rhizomelic CDP is a peroxisomal disorder. Because of clinical similarities to Zellweger syndrome, they did studies that showed evidence for their proposal. In 5 patients with rhizomelic chondrodysplasia punctata, they found a severe deficiency of plasmalogens in phospholipids from red cells and deficient activity of the enzyme acyl-CoA:dihydroxyacetone-phosphate acyltransferase in platelets and cultured skin fibroblasts. Moreover, as in Zellweger syndrome, the plasma phytanic acid concentrations were found to be elevated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4010717" 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="#42" class="mim-tip-reference" title="Wanders, R. J. A., Saelman, D., Heymans, H. S. A., Schutgens, R. B. H., Westerveld, A., Poll-The, B. T., Saudubray, J. M., Van den Bosch, H., Strijland, A., Schram, A. W., Tager, J. M. &lt;strong&gt;Genetic relation between the Zellweger syndrome, infantile Refsum&#x27;s disease, and rhizomelic chondrodysplasia punctata. (Letter)&lt;/strong&gt; New Eng. J. Med. 314: 787-788, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2419755/&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;2419755&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198603203141216&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="2419755">Wanders et al. (1986)</a> did cell-fusion studies of complementation between RCDP and either Zellweger syndrome or the infantile form of Refsum disease (<a href="/entry/266500">266500</a>). In either case the activity of acyl-CoA:dihydroxyacetonephosphate acyltransferase was restored, thus indicating the distinctness of RCDP from these other 2 conditions. The other 2 did not complement; this may indicate that they are caused by allelic mutations, or contrariwise they may be nonallelic but perhaps 'complementation cannot occur after fusion because of the absence of preexisting peroxisomes' (<a href="#42" class="mim-tip-reference" title="Wanders, R. J. A., Saelman, D., Heymans, H. S. A., Schutgens, R. B. H., Westerveld, A., Poll-The, B. T., Saudubray, J. M., Van den Bosch, H., Strijland, A., Schram, A. W., Tager, J. M. &lt;strong&gt;Genetic relation between the Zellweger syndrome, infantile Refsum&#x27;s disease, and rhizomelic chondrodysplasia punctata. (Letter)&lt;/strong&gt; New Eng. J. Med. 314: 787-788, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2419755/&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;2419755&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198603203141216&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="2419755">Wanders et al., 1986</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2419755" 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="Poulos, A., Sheffield, L., Sharp, P., Sherwood, G., Johnson, D., Beckman, K., Fellenberg, A. J., Wraith, J. E., Chow, C. W., Usher, S., Singh, H. &lt;strong&gt;Rhizomelic chondrodysplasia punctata: clinical, pathologic, and biochemical findings in two patients.&lt;/strong&gt; J. Pediat. 113: 685-690, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3171792/&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;3171792&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(88)80378-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3171792">Poulos et al. (1988)</a> studied 2 patients, 1 of whom survived only 13 days and the other of whom was still alive at age 8 years. Both showed markedly reduced fibroblast alkyldihydroxyacetone phosphate synthase activity (approximately 10% of control mean); in contrast, dihydroxyacetone phosphate acyltransferase activity was only moderately reduced (50% of control mean). Plasmalogen levels were very low in brain and liver. The accumulation of phytanic acid observed in plasma and liver was paralleled by a reduced ability of the patients' fibroblasts to oxidize phytanic acid. There appear to be abnormalities in 2 seemingly unrelated pathways, phytanic acid oxidation and ether lipid biosynthesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3171792" 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="#19" class="mim-tip-reference" title="Heikoop, J. C., van Roermund, C. W. T., Just, W. W., Ofman, R., Schutgens, R. B. H., Heymans, H. S. A., Wanders, R. J. A., Tager, J. M. &lt;strong&gt;Rhizomelic chondrodysplasia punctata: deficiency of 3-oxoacyl-Coenzyme A thiolase in peroxisomes and impaired processing of the enzyme.&lt;/strong&gt; J. Clin. Invest. 86: 126-130, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2365812/&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;2365812&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI114674&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="2365812">Heikoop et al. (1990)</a> demonstrated a deficiency of 3-oxoacyl-CoA thiolase in peroxisomes and impaired processing of the enzyme. Peroxisomal thiolase is present in its unprocessed precursor form (44 kD). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2365812" 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>By complementation analysis after somatic cell fusion, <a href="#20" class="mim-tip-reference" title="Heikoop, J. C., Wanders, R. J. A., Strijland, A., Purvis, R., Schutgens, R. B. H., Tager, J. M. &lt;strong&gt;Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata--a complementation study.&lt;/strong&gt; Hum. Genet. 89: 439-444, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1618493/&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;1618493&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00194319&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="1618493">Heikoop et al. (1992)</a> investigated the genetic relationship among 10 patients with clinical manifestations of rhizomelic chondrodysplasia punctata. Biochemically, 9 of 10 patients had a partial deficiency of acyl-CoA:dihydroxyacetone phosphate acyltransferase (DHAP-AT) and impairment of plasmalogen biosynthesis, phytanate catabolism, and the maturation of peroxisomal 3-oxoacyl-CoA thiolase. A fusion of fibroblasts from these 9 patients with Zellweger fibroblasts resulted in complementation as indicated by restoration of DHAP-AT activity, plasmalogen biosynthesis, and punctate fluorescence after staining with a monoclonal antibody to peroxisomal thiolase. No complementation was observed after fusion of different combinations of the 9 RCDP cell lines, suggesting that they belong to a single complementation group. The tenth patient was characterized biochemically by a deficiency of DHAP-AT and an impairment of plasmalogen biosynthesis. Maturation and localization of peroxisomal thiolase were normal, however. Furthermore, fusion of fibroblasts from this patient with fibroblasts from the other 9 patients resulted in complementation as indicated by the restoration of plasmalogen biosynthesis. <a href="#20" class="mim-tip-reference" title="Heikoop, J. C., Wanders, R. J. A., Strijland, A., Purvis, R., Schutgens, R. B. H., Tager, J. M. &lt;strong&gt;Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata--a complementation study.&lt;/strong&gt; Hum. Genet. 89: 439-444, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1618493/&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;1618493&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00194319&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="1618493">Heikoop et al. (1992)</a> concluded that at least 2 different genes can lead to the clinical phenotype of RCDP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1618493" 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="#35" class="mim-tip-reference" title="Sheffield, L. J., Halliday, J. L., Danks, D. M., Rogers, J. G., Poulos, A., Morrison, N. &lt;strong&gt;Clinical, radiological and biochemical classification of chondrodysplasia punctata. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 45 (suppl.): A64, 1989."None>Sheffield et al. (1989)</a> reviewed 103 cases of chondrodysplasia punctata seen in Melbourne over a 20-year period. In 8 cases RCDP was diagnosed; only in this type were abnormalities of peroxisomal function found. In 21 cases Conradi-Hunermann CDP was diagnosed but difficulties in defining this subcategory were evident. Two cases appeared to represent an X-linked dominant form. No definite X-linked recessive cases were seen. In 57 cases the CDP was of the mild type, including 9 cases due to phenytoin exposure during pregnancy and 3 cases due to Warfarin embryopathy. A newly characterized mesomelic form was present in 2 cases. Classification was impossible in 13 cases. <a href="#35" class="mim-tip-reference" title="Sheffield, L. J., Halliday, J. L., Danks, D. M., Rogers, J. G., Poulos, A., Morrison, N. &lt;strong&gt;Clinical, radiological and biochemical classification of chondrodysplasia punctata. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 45 (suppl.): A64, 1989."None>Sheffield et al. (1989)</a> concluded that Binder syndrome (<a href="/entry/155050">155050</a>) should be classified as a mild form of chondrodysplasia punctata.</p><p><a href="#44" class="mim-tip-reference" title="Wardinsky, T. D., Pagon, R. A., Powell, B. R., McGillivray, B., Stephan, M., Zonana, J., Moser, A. &lt;strong&gt;Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports.&lt;/strong&gt; Clin. Genet. 38: 84-93, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2208770/&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;2208770&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1990.tb03554.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="2208770">Wardinsky et al. (1990)</a> reported 5 patients with this disorder, 3 of whom survived beyond 1 year of age. Three of the 5 patients had no radiographic evidence of vertebral body clefts. Three biochemical abnormalities appear to be distinctive of the peroxisome abnormality of RCDP: reduced phytanic acid oxidation activity; a defect in plasmalogen synthesis; and presence of the unprocessed form of peroxisomal thiolase. <a href="#30" class="mim-tip-reference" title="Poll-The, B. T., Maroteaux, P., Narcy, C., Quetin, P., Guesnu, M., Wanders, R. J. A., Schutgens, R. B. H., Saudubray, J. M. &lt;strong&gt;A new type of chondrodysplasia punctata associated with peroxisomal dysfunction.&lt;/strong&gt; J. Inherit. Metab. Dis. 14: 361-363, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1770792/&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;1770792&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01811703&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="1770792">Poll-The et al. (1991)</a> described the case of a female infant, offspring of consanguineous parents, with RCDP and characteristic biochemical findings but distinctive clinical features. At 12 days of age, the girl showed absence of movement of the upper limbs with pain on passive movement of both shoulders. There were no other clinical abnormalities except for a flattened nasal bridge. Stippled epiphyses were found at many sites. At 7.5 months of age, bilateral cataracts were present. Length was at the 10th percentile. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2208770+1770792" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Borochowitz, Z. &lt;strong&gt;Generalized chondrodysplasia punctata with shortness of humeri and brachymetacarpy: humero-metacarpal (HM) type: variation or heterogeneity?&lt;/strong&gt; Am. J. Med. Genet. 41: 417-422, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1776629/&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;1776629&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320410406&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="1776629">Borochowitz (1991)</a> described a girl with unusual features that included short and broad humeri, symmetrical brachymetacarpy, especially of the fourth metacarpals, and hypoplastic distal phalanges as well as sagittal clefting of vertebral bodies and punctate calcifications at various areas including the entire spine, sacrum, hands, feet, trachea, and thyroid cartilage. He suggested that this represents a distinct form of chondrodysplasia punctata which might be called the humerometacarpal (HM) type. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1776629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Dimmick, J., Applegarth, D., Chitayat, D., Clarke, L., Lau, A., Pantzar, T., Moser, H. &lt;strong&gt;Rhizomelic chondrodysplasia punctata in an infant with del(4)(p14p16). (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 49 (suppl.): 155, 1991."None>Dimmick et al. (1991)</a> found de novo deletion del(4)(p14p16) in a newborn male with what they called rhizomelic CDP, but with normal peroxisomes as indicated by electron microscopy and normal plasmalogen synthesis in cultured fibroblasts. Fetal ultrasound demonstrated rhizomelia with epiphyseal stippling and diaphragmatic hernia. Facial anomalies with left cleft lip and bilateral cleft palate were present. The infant died soon after birth. Autopsy findings included polymicrogyria, pulmonary hypoplasia, and polysplenia.</p><p><a href="#1" class="mim-tip-reference" title="Agamanolis, D. P., Novak, R. W. &lt;strong&gt;Rhizomelic chondrodysplasia punctata: report of a case with review of the literature and correlation with other peroxisomal disorders.&lt;/strong&gt; Pediat. Path. Lab. Med. 15: 503-513, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8597837/&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;8597837&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.3109/15513819509026986&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="8597837">Agamanolis and Novak (1995)</a> examined the brain of a girl with CDP who died at the age of 3 years. The brain weighed 525 g (half of normal size) but myelination was normal. The thalamus and basal ganglia were diminished in size and the cerebellum showed severe loss of Purkinje cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8597837" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Khanna, A. J., Braverman, N. E., Valle, D., Sponseller, P. D. &lt;strong&gt;Cervical stenosis secondary to rhizomelic chondrodysplasia punctata.&lt;/strong&gt; Am. J. Med. Genet. 99: 63-66, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11170096/&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;11170096&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/1096-8628(20010215)99:1&lt;63::aid-ajmg1117&gt;3.0.co;2-9&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="11170096">Khanna et al. (2001)</a> described a 2-year-old female with RCDP leading to advanced cervical stenosis as detected by MRI studies of the cervical spine. MRI studies were done when the patient was 13 months old because of radiographic findings and the presence of lower extremity spasticity greater than upper extremity spasticity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11170096" 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="#47" class="mim-tip-reference" title="White, A. L., Modaff, P., Holland-Morris, F., Pauli, R. M. &lt;strong&gt;Natural history of rhizomelic chondrodysplasia punctata.&lt;/strong&gt; Am. J. Med. Genet. 118A: 332-342, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12687664/&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;12687664&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.20009&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="12687664">White et al. (2003)</a> delineated the natural history of RCDP through analysis of 35 previously unreported cases and a review of 62 published cases with respect to length of survival and cause of death. Survival was greater than previously reported, with 90% surviving up to 1 year and 50% surviving up to 6 years. The cause of death was usually respiratory in nature. All infants were found to have joint contractures, bilateral cataracts, and severe growth and psychomotor delays. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12687664" 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 RCDP1 in the families reported by <a href="#30" class="mim-tip-reference" title="Poll-The, B. T., Maroteaux, P., Narcy, C., Quetin, P., Guesnu, M., Wanders, R. J. A., Schutgens, R. B. H., Saudubray, J. M. &lt;strong&gt;A new type of chondrodysplasia punctata associated with peroxisomal dysfunction.&lt;/strong&gt; J. Inherit. Metab. Dis. 14: 361-363, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1770792/&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;1770792&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01811703&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="1770792">Poll-The et al. (1991)</a> and <a href="#17" class="mim-tip-reference" title="Gray, R. G. F., Green, A., Chapman, S., McKeown, C., Schutgens, R. B. H., Wanders, R. J. A. &lt;strong&gt;Rhizomelic chondrodysplasia punctata--a new clinical variant.&lt;/strong&gt; J. Inherit. Metab. Dis. 15: 931-932, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1293391/&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;1293391&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01800236&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="1293391">Gray et al. (1992)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1293391+1770792" 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>To aid in the clinical management of children with RCDP, <a href="#12" class="mim-tip-reference" title="Duker, A. L., Niiler, T., Eldrige, G., Brereton, N. H., Braverman, N. E., Bober, M. B. &lt;strong&gt;Growth charts for individuals with rhizomelic chondrodysplasia punctata.&lt;/strong&gt; Am. J. Med. Genet. 173A: 108-113, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/27616591/&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;27616591&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.37961&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="27616591">Duker et al. (2017)</a> presented detailed growth curves for length, weight, and head circumference for individuals from infancy to 12 years of age, derived from retrospective data from 23 individuals with RCDP types 1 and 2 confirmed by molecular and/or biochemical studies. The growth curves were stratified by age as well as by plasmalogen level, with those with higher plasmalogen levels grouped as 'non-classic.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27616591" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Braverman, N., Steel, G., Obie, C., Moser, A., Moser, H., Gould, S. J., Valle, D. &lt;strong&gt;Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.&lt;/strong&gt; Nature Genet. 15: 369-376, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9090381/&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;9090381&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0497-369&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="9090381">Braverman et al. (1997)</a>, <a href="#28" class="mim-tip-reference" title="Motley, A. M., Hettema, E. H., Hogenhout, E. M., Brites, P., ten Asbroek, A. L. M. A., Wijburg, F. A., Baas, F., Heijmans, H. S., Tabak, H. F., Wanders, R. J. A., Distel, B. &lt;strong&gt;Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.&lt;/strong&gt; Nature Genet. 15: 377-380, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9090382/&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;9090382&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0497-377&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="9090382">Motley et al. (1997)</a>, and <a href="#32" class="mim-tip-reference" title="Purdue, P. E., Zhang, J. W., Skoneczny, M., Lararow, P. B. &lt;strong&gt;Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.&lt;/strong&gt; Nature Genet. 15: 381-384, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9090383/&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;9090383&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0497-381&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="9090383">Purdue et al. (1997)</a> demonstrated that homozygous or compound heterozygous mutations in the PEX7 gene (<a href="/entry/601757">601757</a>) are responsible for RCDP1, otherwise known as peroxisomal biogenesis disorder complementation group 11 (CG11). PEX7, identified in yeast, encodes the receptor for peroxisomal matrix proteins with the type 2 peroxisome targeting signal (PTS2). PTS2 is an N-terminal sequence with the consensus arg/lys-leu-X5-gln/his-leu. By homology probing, <a href="#6" class="mim-tip-reference" title="Braverman, N., Steel, G., Obie, C., Moser, A., Moser, H., Gould, S. J., Valle, D. &lt;strong&gt;Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.&lt;/strong&gt; Nature Genet. 15: 369-376, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9090381/&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;9090381&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0497-369&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="9090381">Braverman et al. (1997)</a> identified human and murine PEX7 genes and found that expression of either corrects the PTS2-import defect characteristic of RCDP cells. They also expressed an N-terminal epitope-tagged version of the PEX7 protein in mammalian cells and found that it was localized mainly in the cytosol. With the caveat that this was an overexpressed, epitope-tagged form of the protein, this result suggested that the PTS2 receptor (PEX7), like the PTS1 receptor (PEX5; <a href="/entry/600414">600414</a>), binds its protein ligands in the cytosol. In a collection of 36 RCDP probands, <a href="#6" class="mim-tip-reference" title="Braverman, N., Steel, G., Obie, C., Moser, A., Moser, H., Gould, S. J., Valle, D. &lt;strong&gt;Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.&lt;/strong&gt; Nature Genet. 15: 369-376, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9090381/&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;9090381&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0497-369&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="9090381">Braverman et al. (1997)</a> found 2 inactivating PEX7 mutations: the first, L292X (<a href="/entry/601757#0001">601757.0001</a>), was present in 26 of the probands, all with a severe phenotype; the second, A218V (<a href="/entry/601757#0002">601757.0002</a>), was present in 3 probands, including 2 with a milder phenotype. A third mutation, G217R (<a href="/entry/601757#0003">601757.0003</a>), the functional significance of which was yet to be determined, was present in 5 probands, all compound heterozygotes with L292X. They suspected the founder effect as the explanation for the high frequency of L292X in northern Europeans; none of the 26 patients either heterozygous or homozygous for L292X was of African or Asian descent. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9090381+9090383+9090382" 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="Motley, A. M., Hettema, E. H., Hogenhout, E. M., Brites, P., ten Asbroek, A. L. M. A., Wijburg, F. A., Baas, F., Heijmans, H. S., Tabak, H. F., Wanders, R. J. A., Distel, B. &lt;strong&gt;Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.&lt;/strong&gt; Nature Genet. 15: 377-380, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9090382/&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;9090382&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0497-377&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="9090382">Motley et al. (1997)</a> stated that 86% of RCDP patients belong to CG11 (also known as complementation group I in the Amsterdam nomenclature). Cells from CG11 show a tetrad of biochemical abnormalities: a deficiency of (i) dihydroxyacetonephosphate acyltransferase, (ii) alkyldihydroxyacetonephosphate synthase, (iii) phytanic acid alpha-oxidation, and (iv) inability to import peroxisomal thiolase. These deficiencies indicated involvement of a component required for correct targeting of these peroxisomal proteins. Deficiencies in peroxisomal targeting are also found in Saccharomyces cerevisiae pex5 and pex7 mutants, which show differential protein input deficiencies corresponding to 2 peroxisomal targeting sequences (PTS1 and PTS2). These mutants lack PTS1 and PTS2 receptors, respectively. Like S. cerevisiae pex7 cells, RCDP cells from CG11 cannot import a PTS2 reporter protein. <a href="#28" class="mim-tip-reference" title="Motley, A. M., Hettema, E. H., Hogenhout, E. M., Brites, P., ten Asbroek, A. L. M. A., Wijburg, F. A., Baas, F., Heijmans, H. S., Tabak, H. F., Wanders, R. J. A., Distel, B. &lt;strong&gt;Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.&lt;/strong&gt; Nature Genet. 15: 377-380, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9090382/&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;9090382&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0497-377&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="9090382">Motley et al. (1997)</a> cloned PEX7 based on its similarity to 2 yeast orthologs. All RCDP patients in CG11 with detectable PEX7 mRNA were found to contain mutations in PEX7. A mutation resulting in a C-terminal truncation of PEX7 (<a href="/entry/601757#0001">601757.0001</a>) cosegregated with the disease, and expression of PEX7 and RCDP fibroblasts from CG11 corrected the PTS2 protein import deficiency. <a href="#32" class="mim-tip-reference" title="Purdue, P. E., Zhang, J. W., Skoneczny, M., Lararow, P. B. &lt;strong&gt;Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.&lt;/strong&gt; Nature Genet. 15: 381-384, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9090383/&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;9090383&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0497-381&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="9090383">Purdue et al. (1997)</a> likewise cloned the human ortholog of yeast PEX7 and demonstrated that the gene is defective in RCDP. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9090383+9090382" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Brites, P., Motley, A. M., Gressens, P., Mooyer, P. A. W., Ploegaert, I., Everts, V., Evrard, P., Carmeliet, P., Dewerchin, M., Schoonjans, L., Duran, M., Waterham, H. R., Wanders, R. J. A., Baes, M. &lt;strong&gt;Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata.&lt;/strong&gt; Hum. Molec. Genet. 12: 2255-2267, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12915479/&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;12915479&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddg236&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="12915479">Brites et al. (2003)</a> generated Pex7-knockout mice (Pex7 -/-), which were severely hypotonic at birth and exhibited growth impairment. Mortality was highest in the perinatal period, although some mice survived beyond 18 months. Biochemically, Pex7 -/- mice displayed a severe depletion of plasmalogens, impaired alpha-oxidation of phytanic acid, and impaired beta-oxidation of very long chain fatty acids. Pex7 -/- mice displayed increased neuronal density in parts of the cerebral cortex and had a delay in neuronal migration. Analysis of bone ossification in newborn Pex7 -/- mice revealed a defect in ossification of distal bone elements of the limbs as well as parts of the skull and vertebrae. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12915479" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Allansmith1960" class="mim-tip-reference" title="Allansmith, M., Senz, E. H. &lt;strong&gt;Chondrodystrophia congenita punctata (Conradi&#x27;s disease).&lt;/strong&gt; Am. J. Dis. Child. 100: 109-116, 1960.">Allansmith and Senz (1960)</a>; <a href="#Bodian1966" class="mim-tip-reference" title="Bodian, E. L. &lt;strong&gt;Skin manifestations of Conradi&#x27;s disease: chondrodystrophia congenita punctata.&lt;/strong&gt; Arch. Derm. 94: 743-748, 1966.">Bodian (1966)</a>; <a href="#Fraser1954" class="mim-tip-reference" title="Fraser, F. C., Scriver, J. B. &lt;strong&gt;A hereditary factor in chondrodystrophia calcificans congenita.&lt;/strong&gt; New Eng. J. Med. 250: 272-277, 1954.">Fraser and Scriver (1954)</a>; <a href="#Gilbert1976" class="mim-tip-reference" title="Gilbert, E. F., Opitz, J. M., Spranger, J. W., Langer, L. O., Jr., Wolfson, J. J., Viseskul, C. &lt;strong&gt;Chondrodysplasia punctata--rhizomelic form: pathologic and radiologic studies of three infants.&lt;/strong&gt; Europ. J. Pediat. 123: 89-109, 1976.">Gilbert et al. (1976)</a>; <a href="#Heselson1978" class="mim-tip-reference" title="Heselson, N. G., Cremin, B. J., Beighton, P. &lt;strong&gt;Lethal chondrodysplasia punctata.&lt;/strong&gt; Clin. Radiol. 29: 679-684, 1978.">Heselson et al. (1978)</a>; <a href="#Josephson1961" class="mim-tip-reference" title="Josephson, B. M., Oriatti, M. D. &lt;strong&gt;Chondrodystrophia calcificans congenita: report of a case and review of the literature.&lt;/strong&gt; Pediatrics 28: 425-435, 1961.">Josephson and Oriatti
(1961)</a>; <a href="#Moser1995" class="mim-tip-reference" title="Moser, A. B., Rasmussen, M., Naidu, S., Watkins, P. A., McGuinness, M., Hajra, A. K., Chen, G., Raymond, G., Liu, A., Gordon, D., Garnaas, K., Walton, D. S., Skjedal, O. H., Guggenheim, M. A., Jackson, L. G., Elias, E. R., Moser, H. W. &lt;strong&gt;Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.&lt;/strong&gt; J. Pediat. 127: 13-22, 1995.">Moser et al. (1995)</a>; <a href="#Stenflo1977" class="mim-tip-reference" title="Stenflo, J., Suttie, J. W. &lt;strong&gt;Vitamin K-dependent formation of gamma-carboxyglutamic acid.&lt;/strong&gt; Ann. Rev. Biochem. 46: 157-172, 1977.">Stenflo and Suttie (1977)</a>; <a href="#Sugarman1974" class="mim-tip-reference" title="Sugarman, G. I. &lt;strong&gt;Chondrodysplasia punctata (rhizomelic type): case report and pathologic findings. In: Bergsma, D. (ed.): Skeletal Dysplasias.&lt;/strong&gt; Amsterdam: Excerpta Medica (pub.) 1974. Pp. 334-340.">Sugarman
(1974)</a>; <a href="#Tasker1970" class="mim-tip-reference" title="Tasker, W. G., Mastri, A. R., Gold, A. P. &lt;strong&gt;Chondrodystrophia calcificans congenita (dysplasia epiphysialis punctata): recognition of the clinical picture.&lt;/strong&gt; Am. J. Dis. Child. 119: 122-127, 1970.">Tasker et al. (1970)</a>; <a href="#Viseskul1974" class="mim-tip-reference" title="Viseskul, C., Opitz, J. M., Spranger, J. W., Hartmann, H. A., Gilbert, E. F. &lt;strong&gt;Pathology of chondrodysplasia punctata rhizomelic type. In: Bergsma, D. (ed.): Skeletal Dysplasias.&lt;/strong&gt; Amsterdam: Excerpta Medica (pub.) 1974. Pp. 327-333.">Viseskul et al. (1974)</a>
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<a id="Agamanolis1995" class="mim-anchor"></a>
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Agamanolis, D. P., Novak, R. W.
<strong>Rhizomelic chondrodysplasia punctata: report of a case with review of the literature and correlation with other peroxisomal disorders.</strong>
Pediat. Path. Lab. Med. 15: 503-513, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8597837/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8597837</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8597837" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.3109/15513819509026986" target="_blank">Full Text</a>]
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<a id="Allansmith1960" class="mim-anchor"></a>
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Allansmith, M., Senz, E. H.
<strong>Chondrodystrophia congenita punctata (Conradi's disease).</strong>
Am. J. Dis. Child. 100: 109-116, 1960.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13792702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13792702</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13792702" 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="Baroy2015" class="mim-anchor"></a>
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Baroy, T., Koster, J., Stromme, P., Ebberink, M. S., Misceo, D., Ferdinandusse, S., Holmgren, A., Hughes, T., Merckoll, E., Westvik, J., Woldseth, B., Walter, J., Wood, N., Tvedt, B., Stadskleiv, K., Wanders, R. J. A., Waterham, H. R., Frengen, E.
<strong>A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.</strong>
Hum. Molec. Genet. 24: 5845-5854, 2015.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26220973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26220973</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26220973" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/ddv305" target="_blank">Full Text</a>]
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<a id="Bodian1966" class="mim-anchor"></a>
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Bodian, E. L.
<strong>Skin manifestations of Conradi's disease: chondrodystrophia congenita punctata.</strong>
Arch. Derm. 94: 743-748, 1966.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5923444/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5923444</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5923444" 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="Borochowitz1991" class="mim-anchor"></a>
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<p class="mim-text-font">
Borochowitz, Z.
<strong>Generalized chondrodysplasia punctata with shortness of humeri and brachymetacarpy: humero-metacarpal (HM) type: variation or heterogeneity?</strong>
Am. J. Med. Genet. 41: 417-422, 1991.
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[<a href="https://doi.org/10.1002/ajmg.1320410406" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/ddg236" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(68)80401-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.37961" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM195402182500702" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00442639" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF01800236" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1981.tb00669.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI114674" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00194319" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0009-9260(78)80202-5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(95)70250-4" target="_blank">Full Text</a>]
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<strong>A new type of chondrodysplasia punctata associated with peroxisomal dysfunction.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1770792/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1770792</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1770792" 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/BF01811703" target="_blank">Full Text</a>]
</p>
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<li>
<a id="31" class="mim-anchor"></a>
<a id="Poulos1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Poulos, A., Sheffield, L., Sharp, P., Sherwood, G., Johnson, D., Beckman, K., Fellenberg, A. J., Wraith, J. E., Chow, C. W., Usher, S., Singh, H.
<strong>Rhizomelic chondrodysplasia punctata: clinical, pathologic, and biochemical findings in two patients.</strong>
J. Pediat. 113: 685-690, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3171792/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3171792</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3171792" 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(88)80378-0" target="_blank">Full Text</a>]
</p>
</div>
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<a id="32" class="mim-anchor"></a>
<a id="Purdue1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Purdue, P. E., Zhang, J. W., Skoneczny, M., Lararow, P. B.
<strong>Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.</strong>
Nature Genet. 15: 381-384, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9090383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9090383</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9090383" 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/ng0497-381" target="_blank">Full Text</a>]
</p>
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<a id="33" class="mim-anchor"></a>
<a id="Putschar1951" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Putschar, W. G. J.
<strong>Chondrodystrophia calcificans congenita (dysplasia epiphysialis punctata).</strong>
Bull. Hosp. Joint Dis. 12: 514-527, 1951.
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</p>
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<a id="34" class="mim-anchor"></a>
<a id="Rosenfield1962" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Rosenfield, R. L., Breibart, S., Isaacs, H., Klevit, H. D., Mellman, W. J.
<strong>Trisomy of chromosomes 13-15 and 17-18: its association with infantile arteriosclerosis.</strong>
Am. J. Med. Sci. 244: 763-779, 1962.
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[<a href="https://doi.org/10.1097/00000441-196212000-00014" target="_blank">Full Text</a>]
</p>
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<a id="35" class="mim-anchor"></a>
<a id="Sheffield1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sheffield, L. J., Halliday, J. L., Danks, D. M., Rogers, J. G., Poulos, A., Morrison, N.
<strong>Clinical, radiological and biochemical classification of chondrodysplasia punctata. (Abstract)</strong>
Am. J. Hum. Genet. 45 (suppl.): A64, 1989.
</p>
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<a id="36" class="mim-anchor"></a>
<a id="Silverman1961" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Silverman, F. N.
<strong>Dysplasies epiphysaires: entite proteiforme.</strong>
Ann. Radiol. 4: 833-867, 1961.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13912929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13912929</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13912929" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
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<li>
<a id="37" class="mim-anchor"></a>
<a id="Spranger1971" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Spranger, J. W., Opitz, J. M., Bidder, U.
<strong>Heterogeneity of chondrodysplasia punctata.</strong>
Humangenetik 11: 190-212, 1971.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5544780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5544780</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5544780" 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/BF00274739" target="_blank">Full Text</a>]
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<a id="38" class="mim-anchor"></a>
<a id="Stenflo1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Stenflo, J., Suttie, J. W.
<strong>Vitamin K-dependent formation of gamma-carboxyglutamic acid.</strong>
Ann. Rev. Biochem. 46: 157-172, 1977.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/332061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">332061</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=332061" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1146/annurev.bi.46.070177.001105" target="_blank">Full Text</a>]
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<a id="39" class="mim-anchor"></a>
<a id="Sugarman1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sugarman, G. I.
<strong>Chondrodysplasia punctata (rhizomelic type): case report and pathologic findings. In: Bergsma, D. (ed.): Skeletal Dysplasias.</strong>
Amsterdam: Excerpta Medica (pub.) 1974. Pp. 334-340.
</p>
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<a id="40" class="mim-anchor"></a>
<a id="Tasker1970" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tasker, W. G., Mastri, A. R., Gold, A. P.
<strong>Chondrodystrophia calcificans congenita (dysplasia epiphysialis punctata): recognition of the clinical picture.</strong>
Am. J. Dis. Child. 119: 122-127, 1970.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5410559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5410559</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5410559" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archpedi.1970.02100050124006" target="_blank">Full Text</a>]
</p>
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<a id="Viseskul1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Viseskul, C., Opitz, J. M., Spranger, J. W., Hartmann, H. A., Gilbert, E. F.
<strong>Pathology of chondrodysplasia punctata rhizomelic type. In: Bergsma, D. (ed.): Skeletal Dysplasias.</strong>
Amsterdam: Excerpta Medica (pub.) 1974. Pp. 327-333.
</p>
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<a id="42" class="mim-anchor"></a>
<a id="Wanders1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wanders, R. J. A., Saelman, D., Heymans, H. S. A., Schutgens, R. B. H., Westerveld, A., Poll-The, B. T., Saudubray, J. M., Van den Bosch, H., Strijland, A., Schram, A. W., Tager, J. M.
<strong>Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. (Letter)</strong>
New Eng. J. Med. 314: 787-788, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2419755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2419755</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2419755" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM198603203141216" target="_blank">Full Text</a>]
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<a id="43" class="mim-anchor"></a>
<a id="Wanders2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wanders, R. J. A., Waterham, H. R.
<strong>Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders.</strong>
Clin. Genet. 67: 107-133, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15679822/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15679822</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15679822" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.2004.00329.x" target="_blank">Full Text</a>]
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<a id="Wardinsky1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wardinsky, T. D., Pagon, R. A., Powell, B. R., McGillivray, B., Stephan, M., Zonana, J., Moser, A.
<strong>Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports.</strong>
Clin. Genet. 38: 84-93, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2208770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2208770</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2208770" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1990.tb03554.x" target="_blank">Full Text</a>]
</p>
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<a id="Waterham2012" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Waterham, H. R., Ebberink, M. S.
<strong>Genetics and molecular basis of human peroxisome biogenesis disorders.</strong>
Biochim. Biophys. Acta 1822: 1430-1441, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22871920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22871920</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22871920" 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.bbadis.2012.04.006" target="_blank">Full Text</a>]
</p>
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<a id="Wells1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wells, T. R., Landing, B. H., Bostwick, F. H.
<strong>Studies of vertebral coronal cleft in rhizomelic chondrodysplasia punctata.</strong>
Pediat. Path. 12: 593-600, 1992. Note: Erratum: Pediat. Path. 13: 123 only, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1409157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1409157</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1409157" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.3109/15513819209024210" target="_blank">Full Text</a>]
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<a id="White2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
White, A. L., Modaff, P., Holland-Morris, F., Pauli, R. M.
<strong>Natural history of rhizomelic chondrodysplasia punctata.</strong>
Am. J. Med. Genet. 118A: 332-342, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12687664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12687664</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12687664" 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.20009" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Carol A. Bocchini - updated : 04/23/2018
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
George E. Tiller - updated : 9/9/2005<br>Deborah L. Stone - updated : 12/22/2004<br>Victor A. McKusick - updated : 2/21/2001<br>David Valle - edited : 6/23/1997<br>Iosif W. Lurie - updated : 1/8/1997
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Victor A. McKusick : 6/24/1986
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alopez : 06/30/2021
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carol : 04/24/2018<br>carol : 04/23/2018<br>carol : 04/18/2016<br>carol : 12/29/2015<br>carol : 12/23/2015<br>carol : 12/23/2015<br>carol : 3/26/2014<br>carol : 3/20/2014<br>carol : 3/19/2014<br>carol : 3/19/2014<br>mcolton : 3/14/2014<br>mcolton : 3/14/2014<br>alopez : 10/26/2012<br>alopez : 10/25/2012<br>alopez : 10/24/2012<br>carol : 7/11/2012<br>carol : 7/10/2012<br>carol : 7/9/2012<br>carol : 5/10/2007<br>alopez : 9/30/2005<br>terry : 9/9/2005<br>alopez : 7/14/2005<br>carol : 12/22/2004<br>cwells : 2/27/2001<br>terry : 2/21/2001<br>carol : 6/23/1998<br>terry : 5/22/1998<br>mark : 6/23/1997<br>joanna : 6/23/1997<br>mark : 4/21/1997<br>mark : 4/21/1997<br>terry : 4/15/1997<br>mark : 3/12/1997<br>jenny : 3/4/1997<br>jenny : 1/21/1997<br>jenny : 1/8/1997<br>jenny : 1/2/1997<br>terry : 5/13/1996<br>mark : 4/25/1996<br>terry : 4/18/1996<br>mark : 10/11/1995<br>jason : 6/24/1994<br>davew : 6/1/1994<br>terry : 5/10/1994<br>mimadm : 2/19/1994<br>carol : 2/10/1993
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<h3>
<span class="mim-font">
<strong>#</strong> 215100
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<span class="mim-font">
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1
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<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
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<h4>
<span class="mim-font">
PEROXISOME BIOGENESIS DISORDER 9; PBD9<br />
CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC FORM; CDPR<br />
CHONDRODYSTROPHIA CALCIFICANS PUNCTATA
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<p>
<span class="mim-text-font">
<strong>SNOMEDCT:</strong> 1003862001, 56692003; &nbsp;
<strong>ICD10CM:</strong> E71.540; &nbsp;
<strong>ORPHA:</strong> 177, 309789; &nbsp;
<strong>DO:</strong> 0110851; &nbsp;
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<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<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
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<th>
Gene/Locus <br /> MIM number
</th>
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</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
6q23.3
</span>
</td>
<td>
<span class="mim-font">
Rhizomelic chondrodysplasia punctata, type 1
</span>
</td>
<td>
<span class="mim-font">
215100
</span>
</td>
<td>
<span class="mim-font">
Autosomal recessive
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
PEX7
</span>
</td>
<td>
<span class="mim-font">
601757
</span>
</td>
</tr>
</tbody>
</table>
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<h4>
<span class="mim-font">
<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that rhizomelic chondrodysplasia punctata type 1 (RCDP1) is caused by homozygous or compound heterozygous mutation in the PEX7 gene (601757), which encodes the peroxisomal type 2 targeting signal (PTS2) receptor, on chromosome 6q23.</p><p>Mutations in the PEX7 gene can also cause an atypical phenotype with longer survival and less neurologic involvement than rhizomelic chondrodysplasia punctata, normal or near-normal growth, and absence of rhizomelia (see PBD9B, 614879).</p>
</span>
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<h4>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). </p><p>Individuals with RCDP1, carrying mutations in the PEX7 gene, have cells of peroxisome biogenesis disorder (PBD) complementation group 11 (CG11, equivalent to CGR). For information on the history of PBD complementation groups, see 214100.</p><p><strong><em>Genetic Heterogeneity of Rhizomelic Chondrodysplasia Punctata</em></strong></p><p>
RCDP2 (222765) is caused by mutation in the gene encoding acyl-CoA:dihydroxyacetonephosphate acyltransferase (GNPAT; 602744) on chromosome 1q42. RCDP3 (600121) is caused by mutation in the gene encoding alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) (AGPS; 603051) on chromosome 2q31. RCDP5 (616716) is caused by mutation in the gene encoding peroxisomal biogenesis factor-5 (PEX5; 600414) on chromosome 12p13.</p><p>Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 and RCDP3 are classified as single peroxisome enzyme deficiencies (Waterham and Ebberink, 2012). </p>
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<div>
<h4>
<span class="mim-font">
<strong>Nomenclature</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Baroy et al. (2015) called the peroxisomal fatty acyl-CoA reductase 1 disorder (PFCRD; 616154) RCDP4 despite the fact that patients with PFCRD do not have the characteristic skeletal abnormalities observed in RCDP. </p>
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<div>
<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
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<span class="mim-text-font">
<p>Rhizomelic chondrodysplasia punctata is a rare, multisystem, developmental disorder, characterized by severe bilateral shortening and metaphyseal changes of femora and/or humeri, microcephaly, characteristic facial features, and severe psychomotor retardation and spasticity. Cataracts are present in about 72% of cases, and skin changes in about 28% (Spranger et al., 1971). The coronal cleft of the vertebral bodies is demonstrable radiologically and appears to represent embryonic arrest with cartilage occupying the cleft between the anterior and posterior parts of the vertebral bodies (Wells et al., 1992). </p><p>There are several different disorders with similar punctate cartilaginous changes, e.g., X-linked chondrodysplasia punctata (see 302960); the multiple forms of the Zellweger syndrome (see 214100); maternal ingestion of certain anticoagulants (dicoumarol or warfarin; 118650) in early pregnancy; and even occasionally trisomy 18 (Rosenfield et al., 1962). Thus, care must be taken in diagnosing an infant or child presenting with punctate calcifications (Spranger et al., 1971). The combination of punctate calcifications, rhizomelia, and the biochemical abnormalities (deficient red cell plasmalogens and accumulation of phytanic acid) is pathognomic for RCDP (Wanders and Waterham, 2005). </p><p>Melnick (1965) observed a child with punctate calcifications in the offspring of a father-daughter mating. </p><p>Early literature on CDP is confusing because the heterogeneous etiology of punctate calcifications was not recognized. For example, the evolution of punctate calcifications in early life into multiple epiphyseal dysplasia was observed by Silverman (1961) and the inheritance seemed to be dominant; thus it is likely that an entity (or entities) other than RCDP was represented (see 118650). Fifteen-year follow-up of a heterogeneous group of patients with punctate calcifications was provided by Comings et al. (1968). Saddle nose secondary to involvement of the facial bones was noted in about 40% of cases in a series of cases of punctate calcifications according to Fritsch and Manzke (1963) and is more typical of warfarin embryopathy. In Australia this feature led to the designation koala bear syndrome (Danks, 1970). It was the suggestion of a group convened in Paris by the European Society of Pediatric Radiology that this phenotype be called chondrodysplasia punctata (Maroteaux, 1970). They suggested that cases labeled as chondrodystrophia calcificans by De Lange and Janssen (1949), Gekle (1963), Phillips (1957) (case 2), and Putschar (1951) actually included patients with Zellweger syndrome. </p><p>Happle (1981) suggested that cataracts are consistently absent in the autosomal dominant form of chondrodysplasia punctata (118650) and present in about two-thirds of the rhizomelic and X-linked dominant (302950) forms. In the rhizomelic form, the opacities tend to be bilateral and symmetric; in the X-linked form, they are usually asymmetric and often unilateral. </p><p>Gray et al. (1992) reported an affected female, the offspring of first-cousin parents, who had no punctate calcification evident at birth, although there was coronal clefting of the vertebrae. Early cataract formation was evident by 18 weeks, and at 8 months of age a further skeletal survey revealed traces of punctate calcification of the epiphyses and spine. The patient had pulmonary stenosis and atrial septal defect. The electroretinogram was grossly abnormal. </p><p>Heymans et al. (1985) first suggested that rhizomelic CDP is a peroxisomal disorder. Because of clinical similarities to Zellweger syndrome, they did studies that showed evidence for their proposal. In 5 patients with rhizomelic chondrodysplasia punctata, they found a severe deficiency of plasmalogens in phospholipids from red cells and deficient activity of the enzyme acyl-CoA:dihydroxyacetone-phosphate acyltransferase in platelets and cultured skin fibroblasts. Moreover, as in Zellweger syndrome, the plasma phytanic acid concentrations were found to be elevated. </p><p>Wanders et al. (1986) did cell-fusion studies of complementation between RCDP and either Zellweger syndrome or the infantile form of Refsum disease (266500). In either case the activity of acyl-CoA:dihydroxyacetonephosphate acyltransferase was restored, thus indicating the distinctness of RCDP from these other 2 conditions. The other 2 did not complement; this may indicate that they are caused by allelic mutations, or contrariwise they may be nonallelic but perhaps 'complementation cannot occur after fusion because of the absence of preexisting peroxisomes' (Wanders et al., 1986). </p><p>Poulos et al. (1988) studied 2 patients, 1 of whom survived only 13 days and the other of whom was still alive at age 8 years. Both showed markedly reduced fibroblast alkyldihydroxyacetone phosphate synthase activity (approximately 10% of control mean); in contrast, dihydroxyacetone phosphate acyltransferase activity was only moderately reduced (50% of control mean). Plasmalogen levels were very low in brain and liver. The accumulation of phytanic acid observed in plasma and liver was paralleled by a reduced ability of the patients' fibroblasts to oxidize phytanic acid. There appear to be abnormalities in 2 seemingly unrelated pathways, phytanic acid oxidation and ether lipid biosynthesis. </p><p>Heikoop et al. (1990) demonstrated a deficiency of 3-oxoacyl-CoA thiolase in peroxisomes and impaired processing of the enzyme. Peroxisomal thiolase is present in its unprocessed precursor form (44 kD). </p><p>By complementation analysis after somatic cell fusion, Heikoop et al. (1992) investigated the genetic relationship among 10 patients with clinical manifestations of rhizomelic chondrodysplasia punctata. Biochemically, 9 of 10 patients had a partial deficiency of acyl-CoA:dihydroxyacetone phosphate acyltransferase (DHAP-AT) and impairment of plasmalogen biosynthesis, phytanate catabolism, and the maturation of peroxisomal 3-oxoacyl-CoA thiolase. A fusion of fibroblasts from these 9 patients with Zellweger fibroblasts resulted in complementation as indicated by restoration of DHAP-AT activity, plasmalogen biosynthesis, and punctate fluorescence after staining with a monoclonal antibody to peroxisomal thiolase. No complementation was observed after fusion of different combinations of the 9 RCDP cell lines, suggesting that they belong to a single complementation group. The tenth patient was characterized biochemically by a deficiency of DHAP-AT and an impairment of plasmalogen biosynthesis. Maturation and localization of peroxisomal thiolase were normal, however. Furthermore, fusion of fibroblasts from this patient with fibroblasts from the other 9 patients resulted in complementation as indicated by the restoration of plasmalogen biosynthesis. Heikoop et al. (1992) concluded that at least 2 different genes can lead to the clinical phenotype of RCDP. </p><p>Sheffield et al. (1989) reviewed 103 cases of chondrodysplasia punctata seen in Melbourne over a 20-year period. In 8 cases RCDP was diagnosed; only in this type were abnormalities of peroxisomal function found. In 21 cases Conradi-Hunermann CDP was diagnosed but difficulties in defining this subcategory were evident. Two cases appeared to represent an X-linked dominant form. No definite X-linked recessive cases were seen. In 57 cases the CDP was of the mild type, including 9 cases due to phenytoin exposure during pregnancy and 3 cases due to Warfarin embryopathy. A newly characterized mesomelic form was present in 2 cases. Classification was impossible in 13 cases. Sheffield et al. (1989) concluded that Binder syndrome (155050) should be classified as a mild form of chondrodysplasia punctata.</p><p>Wardinsky et al. (1990) reported 5 patients with this disorder, 3 of whom survived beyond 1 year of age. Three of the 5 patients had no radiographic evidence of vertebral body clefts. Three biochemical abnormalities appear to be distinctive of the peroxisome abnormality of RCDP: reduced phytanic acid oxidation activity; a defect in plasmalogen synthesis; and presence of the unprocessed form of peroxisomal thiolase. Poll-The et al. (1991) described the case of a female infant, offspring of consanguineous parents, with RCDP and characteristic biochemical findings but distinctive clinical features. At 12 days of age, the girl showed absence of movement of the upper limbs with pain on passive movement of both shoulders. There were no other clinical abnormalities except for a flattened nasal bridge. Stippled epiphyses were found at many sites. At 7.5 months of age, bilateral cataracts were present. Length was at the 10th percentile. </p><p>Borochowitz (1991) described a girl with unusual features that included short and broad humeri, symmetrical brachymetacarpy, especially of the fourth metacarpals, and hypoplastic distal phalanges as well as sagittal clefting of vertebral bodies and punctate calcifications at various areas including the entire spine, sacrum, hands, feet, trachea, and thyroid cartilage. He suggested that this represents a distinct form of chondrodysplasia punctata which might be called the humerometacarpal (HM) type. </p><p>Dimmick et al. (1991) found de novo deletion del(4)(p14p16) in a newborn male with what they called rhizomelic CDP, but with normal peroxisomes as indicated by electron microscopy and normal plasmalogen synthesis in cultured fibroblasts. Fetal ultrasound demonstrated rhizomelia with epiphyseal stippling and diaphragmatic hernia. Facial anomalies with left cleft lip and bilateral cleft palate were present. The infant died soon after birth. Autopsy findings included polymicrogyria, pulmonary hypoplasia, and polysplenia.</p><p>Agamanolis and Novak (1995) examined the brain of a girl with CDP who died at the age of 3 years. The brain weighed 525 g (half of normal size) but myelination was normal. The thalamus and basal ganglia were diminished in size and the cerebellum showed severe loss of Purkinje cells. </p><p>Khanna et al. (2001) described a 2-year-old female with RCDP leading to advanced cervical stenosis as detected by MRI studies of the cervical spine. MRI studies were done when the patient was 13 months old because of radiographic findings and the presence of lower extremity spasticity greater than upper extremity spasticity. </p><p>White et al. (2003) delineated the natural history of RCDP through analysis of 35 previously unreported cases and a review of 62 published cases with respect to length of survival and cause of death. Survival was greater than previously reported, with 90% surviving up to 1 year and 50% surviving up to 6 years. The cause of death was usually respiratory in nature. All infants were found to have joint contractures, bilateral cataracts, and severe growth and psychomotor delays. </p>
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<h4>
<span class="mim-font">
<strong>Inheritance</strong>
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</h4>
</div>
<span class="mim-text-font">
<p>The transmission pattern of RCDP1 in the families reported by Poll-The et al. (1991) and Gray et al. (1992) was consistent with autosomal recessive inheritance. </p>
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<h4>
<span class="mim-font">
<strong>Clinical Management</strong>
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</h4>
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<span class="mim-text-font">
<p>To aid in the clinical management of children with RCDP, Duker et al. (2017) presented detailed growth curves for length, weight, and head circumference for individuals from infancy to 12 years of age, derived from retrospective data from 23 individuals with RCDP types 1 and 2 confirmed by molecular and/or biochemical studies. The growth curves were stratified by age as well as by plasmalogen level, with those with higher plasmalogen levels grouped as 'non-classic.' </p>
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<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
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</h4>
</div>
<span class="mim-text-font">
<p>Braverman et al. (1997), Motley et al. (1997), and Purdue et al. (1997) demonstrated that homozygous or compound heterozygous mutations in the PEX7 gene (601757) are responsible for RCDP1, otherwise known as peroxisomal biogenesis disorder complementation group 11 (CG11). PEX7, identified in yeast, encodes the receptor for peroxisomal matrix proteins with the type 2 peroxisome targeting signal (PTS2). PTS2 is an N-terminal sequence with the consensus arg/lys-leu-X5-gln/his-leu. By homology probing, Braverman et al. (1997) identified human and murine PEX7 genes and found that expression of either corrects the PTS2-import defect characteristic of RCDP cells. They also expressed an N-terminal epitope-tagged version of the PEX7 protein in mammalian cells and found that it was localized mainly in the cytosol. With the caveat that this was an overexpressed, epitope-tagged form of the protein, this result suggested that the PTS2 receptor (PEX7), like the PTS1 receptor (PEX5; 600414), binds its protein ligands in the cytosol. In a collection of 36 RCDP probands, Braverman et al. (1997) found 2 inactivating PEX7 mutations: the first, L292X (601757.0001), was present in 26 of the probands, all with a severe phenotype; the second, A218V (601757.0002), was present in 3 probands, including 2 with a milder phenotype. A third mutation, G217R (601757.0003), the functional significance of which was yet to be determined, was present in 5 probands, all compound heterozygotes with L292X. They suspected the founder effect as the explanation for the high frequency of L292X in northern Europeans; none of the 26 patients either heterozygous or homozygous for L292X was of African or Asian descent. </p><p>Motley et al. (1997) stated that 86% of RCDP patients belong to CG11 (also known as complementation group I in the Amsterdam nomenclature). Cells from CG11 show a tetrad of biochemical abnormalities: a deficiency of (i) dihydroxyacetonephosphate acyltransferase, (ii) alkyldihydroxyacetonephosphate synthase, (iii) phytanic acid alpha-oxidation, and (iv) inability to import peroxisomal thiolase. These deficiencies indicated involvement of a component required for correct targeting of these peroxisomal proteins. Deficiencies in peroxisomal targeting are also found in Saccharomyces cerevisiae pex5 and pex7 mutants, which show differential protein input deficiencies corresponding to 2 peroxisomal targeting sequences (PTS1 and PTS2). These mutants lack PTS1 and PTS2 receptors, respectively. Like S. cerevisiae pex7 cells, RCDP cells from CG11 cannot import a PTS2 reporter protein. Motley et al. (1997) cloned PEX7 based on its similarity to 2 yeast orthologs. All RCDP patients in CG11 with detectable PEX7 mRNA were found to contain mutations in PEX7. A mutation resulting in a C-terminal truncation of PEX7 (601757.0001) cosegregated with the disease, and expression of PEX7 and RCDP fibroblasts from CG11 corrected the PTS2 protein import deficiency. Purdue et al. (1997) likewise cloned the human ortholog of yeast PEX7 and demonstrated that the gene is defective in RCDP. </p>
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<h4>
<span class="mim-font">
<strong>Animal Model</strong>
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</h4>
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<span class="mim-text-font">
<p>Brites et al. (2003) generated Pex7-knockout mice (Pex7 -/-), which were severely hypotonic at birth and exhibited growth impairment. Mortality was highest in the perinatal period, although some mice survived beyond 18 months. Biochemically, Pex7 -/- mice displayed a severe depletion of plasmalogens, impaired alpha-oxidation of phytanic acid, and impaired beta-oxidation of very long chain fatty acids. Pex7 -/- mice displayed increased neuronal density in parts of the cerebral cortex and had a delay in neuronal migration. Analysis of bone ossification in newborn Pex7 -/- mice revealed a defect in ossification of distal bone elements of the limbs as well as parts of the skull and vertebrae. </p>
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<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Allansmith and Senz (1960); Bodian (1966); Fraser and Scriver (1954);
Gilbert et al. (1976); Heselson et al. (1978); Josephson and Oriatti
(1961); Moser et al. (1995); Stenflo and Suttie (1977); Sugarman
(1974); Tasker et al. (1970); Viseskul et al. (1974)
</span>
<div>
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</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
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<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Agamanolis, D. P., Novak, R. W.
<strong>Rhizomelic chondrodysplasia punctata: report of a case with review of the literature and correlation with other peroxisomal disorders.</strong>
Pediat. Path. Lab. Med. 15: 503-513, 1995.
[PubMed: 8597837]
[Full Text: https://doi.org/10.3109/15513819509026986]
</p>
</li>
<li>
<p class="mim-text-font">
Allansmith, M., Senz, E. H.
<strong>Chondrodystrophia congenita punctata (Conradi&#x27;s disease).</strong>
Am. J. Dis. Child. 100: 109-116, 1960.
[PubMed: 13792702]
</p>
</li>
<li>
<p class="mim-text-font">
Baroy, T., Koster, J., Stromme, P., Ebberink, M. S., Misceo, D., Ferdinandusse, S., Holmgren, A., Hughes, T., Merckoll, E., Westvik, J., Woldseth, B., Walter, J., Wood, N., Tvedt, B., Stadskleiv, K., Wanders, R. J. A., Waterham, H. R., Frengen, E.
<strong>A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.</strong>
Hum. Molec. Genet. 24: 5845-5854, 2015.
[PubMed: 26220973]
[Full Text: https://doi.org/10.1093/hmg/ddv305]
</p>
</li>
<li>
<p class="mim-text-font">
Bodian, E. L.
<strong>Skin manifestations of Conradi&#x27;s disease: chondrodystrophia congenita punctata.</strong>
Arch. Derm. 94: 743-748, 1966.
[PubMed: 5923444]
</p>
</li>
<li>
<p class="mim-text-font">
Borochowitz, Z.
<strong>Generalized chondrodysplasia punctata with shortness of humeri and brachymetacarpy: humero-metacarpal (HM) type: variation or heterogeneity?</strong>
Am. J. Med. Genet. 41: 417-422, 1991.
[PubMed: 1776629]
[Full Text: https://doi.org/10.1002/ajmg.1320410406]
</p>
</li>
<li>
<p class="mim-text-font">
Braverman, N., Steel, G., Obie, C., Moser, A., Moser, H., Gould, S. J., Valle, D.
<strong>Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.</strong>
Nature Genet. 15: 369-376, 1997.
[PubMed: 9090381]
[Full Text: https://doi.org/10.1038/ng0497-369]
</p>
</li>
<li>
<p class="mim-text-font">
Brites, P., Motley, A. M., Gressens, P., Mooyer, P. A. W., Ploegaert, I., Everts, V., Evrard, P., Carmeliet, P., Dewerchin, M., Schoonjans, L., Duran, M., Waterham, H. R., Wanders, R. J. A., Baes, M.
<strong>Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata.</strong>
Hum. Molec. Genet. 12: 2255-2267, 2003.
[PubMed: 12915479]
[Full Text: https://doi.org/10.1093/hmg/ddg236]
</p>
</li>
<li>
<p class="mim-text-font">
Comings, D. E., Papazian, C., Schoene, H. R.
<strong>Conradi&#x27;s disease (chondrodystrophia calcificans congenita, congenital stippled epiphyses).</strong>
J. Pediat. 72: 63-69, 1968.
[PubMed: 5634939]
[Full Text: https://doi.org/10.1016/s0022-3476(68)80401-9]
</p>
</li>
<li>
<p class="mim-text-font">
Danks, D. M.
<strong>Personal Communication.</strong>
Melbourne, Australia 1970.
</p>
</li>
<li>
<p class="mim-text-font">
De Lange, C., Janssen, T.
<strong>Congenital chondrodystrophia calcificans of infant in association with other abnormalities: case.</strong>
Maandschr. Kindergeneesk. 17: 67-74, 1949.
</p>
</li>
<li>
<p class="mim-text-font">
Dimmick, J., Applegarth, D., Chitayat, D., Clarke, L., Lau, A., Pantzar, T., Moser, H.
<strong>Rhizomelic chondrodysplasia punctata in an infant with del(4)(p14p16). (Abstract)</strong>
Am. J. Hum. Genet. 49 (suppl.): 155, 1991.
</p>
</li>
<li>
<p class="mim-text-font">
Duker, A. L., Niiler, T., Eldrige, G., Brereton, N. H., Braverman, N. E., Bober, M. B.
<strong>Growth charts for individuals with rhizomelic chondrodysplasia punctata.</strong>
Am. J. Med. Genet. 173A: 108-113, 2017.
[PubMed: 27616591]
[Full Text: https://doi.org/10.1002/ajmg.a.37961]
</p>
</li>
<li>
<p class="mim-text-font">
Fraser, F. C., Scriver, J. B.
<strong>A hereditary factor in chondrodystrophia calcificans congenita.</strong>
New Eng. J. Med. 250: 272-277, 1954.
[PubMed: 13133066]
[Full Text: https://doi.org/10.1056/NEJM195402182500702]
</p>
</li>
<li>
<p class="mim-text-font">
Fritsch, H., Manzke, H.
<strong>Beitrag zur Chondrodystrophia calcificans connata (Conradi-Hunermann-Syndrom).</strong>
Arch. Kinderheilk. 169: 235-254, 1963.
[PubMed: 14118591]
</p>
</li>
<li>
<p class="mim-text-font">
Gekle, D.
<strong>Ein Beitrag zum Problem der Chondrodystrophia calcificans congenita.</strong>
Arch. Kinderheilk. 169: 267-273, 1963.
[PubMed: 14118593]
</p>
</li>
<li>
<p class="mim-text-font">
Gilbert, E. F., Opitz, J. M., Spranger, J. W., Langer, L. O., Jr., Wolfson, J. J., Viseskul, C.
<strong>Chondrodysplasia punctata--rhizomelic form: pathologic and radiologic studies of three infants.</strong>
Europ. J. Pediat. 123: 89-109, 1976.
[PubMed: 987909]
[Full Text: https://doi.org/10.1007/BF00442639]
</p>
</li>
<li>
<p class="mim-text-font">
Gray, R. G. F., Green, A., Chapman, S., McKeown, C., Schutgens, R. B. H., Wanders, R. J. A.
<strong>Rhizomelic chondrodysplasia punctata--a new clinical variant.</strong>
J. Inherit. Metab. Dis. 15: 931-932, 1992.
[PubMed: 1293391]
[Full Text: https://doi.org/10.1007/BF01800236]
</p>
</li>
<li>
<p class="mim-text-font">
Happle, R.
<strong>Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata.</strong>
Clin. Genet. 19: 64-66, 1981.
[PubMed: 7460383]
[Full Text: https://doi.org/10.1111/j.1399-0004.1981.tb00669.x]
</p>
</li>
<li>
<p class="mim-text-font">
Heikoop, J. C., van Roermund, C. W. T., Just, W. W., Ofman, R., Schutgens, R. B. H., Heymans, H. S. A., Wanders, R. J. A., Tager, J. M.
<strong>Rhizomelic chondrodysplasia punctata: deficiency of 3-oxoacyl-Coenzyme A thiolase in peroxisomes and impaired processing of the enzyme.</strong>
J. Clin. Invest. 86: 126-130, 1990.
[PubMed: 2365812]
[Full Text: https://doi.org/10.1172/JCI114674]
</p>
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<li>
<p class="mim-text-font">
Heikoop, J. C., Wanders, R. J. A., Strijland, A., Purvis, R., Schutgens, R. B. H., Tager, J. M.
<strong>Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata--a complementation study.</strong>
Hum. Genet. 89: 439-444, 1992.
[PubMed: 1618493]
[Full Text: https://doi.org/10.1007/BF00194319]
</p>
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<li>
<p class="mim-text-font">
Heselson, N. G., Cremin, B. J., Beighton, P.
<strong>Lethal chondrodysplasia punctata.</strong>
Clin. Radiol. 29: 679-684, 1978.
[PubMed: 737958]
[Full Text: https://doi.org/10.1016/s0009-9260(78)80202-5]
</p>
</li>
<li>
<p class="mim-text-font">
Heymans, H. S. A., Oorthuys, J. W. E., Nelck, G., Wanders, R. J. A., Schutgens, R. B. H.
<strong>Rhizomelic chondrodysplasia punctata: another peroxisomal disorder. (Letter)</strong>
New Eng. J. Med. 313: 187-188, 1985.
[PubMed: 4010717]
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<li>
<p class="mim-text-font">
Josephson, B. M., Oriatti, M. D.
<strong>Chondrodystrophia calcificans congenita: report of a case and review of the literature.</strong>
Pediatrics 28: 425-435, 1961.
[PubMed: 13790764]
</p>
</li>
<li>
<p class="mim-text-font">
Khanna, A. J., Braverman, N. E., Valle, D., Sponseller, P. D.
<strong>Cervical stenosis secondary to rhizomelic chondrodysplasia punctata.</strong>
Am. J. Med. Genet. 99: 63-66, 2001.
[PubMed: 11170096]
[Full Text: https://doi.org/10.1002/1096-8628(20010215)99:1&lt;63::aid-ajmg1117&gt;3.0.co;2-9]
</p>
</li>
<li>
<p class="mim-text-font">
Maroteaux, P.
<strong>Nomenclature internationale des maladies osseuses constitutionelles.</strong>
Ann. Radiol. 13: 455-464, 1970.
[PubMed: 5449618]
</p>
</li>
<li>
<p class="mim-text-font">
Melnick, J. C.
<strong>Chondrodystrophia calcificans congenita (chondrodysplasia epiphysialis punctata, stippled epiphyses).</strong>
Am. J. Dis. Child. 110: 218-225, 1965.
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Moser, A. B., Rasmussen, M., Naidu, S., Watkins, P. A., McGuinness, M., Hajra, A. K., Chen, G., Raymond, G., Liu, A., Gordon, D., Garnaas, K., Walton, D. S., Skjedal, O. H., Guggenheim, M. A., Jackson, L. G., Elias, E. R., Moser, H. W.
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Motley, A. M., Hettema, E. H., Hogenhout, E. M., Brites, P., ten Asbroek, A. L. M. A., Wijburg, F. A., Baas, F., Heijmans, H. S., Tabak, H. F., Wanders, R. J. A., Distel, B.
<strong>Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.</strong>
Nature Genet. 15: 377-380, 1997.
[PubMed: 9090382]
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Phillips, L. I.
<strong>Chondrodystrophia calcificans congenita.</strong>
New Zeal. Med. J. 56: 22-27, 1957.
[PubMed: 13419080]
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Poll-The, B. T., Maroteaux, P., Narcy, C., Quetin, P., Guesnu, M., Wanders, R. J. A., Schutgens, R. B. H., Saudubray, J. M.
<strong>A new type of chondrodysplasia punctata associated with peroxisomal dysfunction.</strong>
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[PubMed: 3171792]
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Purdue, P. E., Zhang, J. W., Skoneczny, M., Lararow, P. B.
<strong>Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.</strong>
Nature Genet. 15: 381-384, 1997.
[PubMed: 9090383]
[Full Text: https://doi.org/10.1038/ng0497-381]
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Putschar, W. G. J.
<strong>Chondrodystrophia calcificans congenita (dysplasia epiphysialis punctata).</strong>
Bull. Hosp. Joint Dis. 12: 514-527, 1951.
[PubMed: 14905128]
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Rosenfield, R. L., Breibart, S., Isaacs, H., Klevit, H. D., Mellman, W. J.
<strong>Trisomy of chromosomes 13-15 and 17-18: its association with infantile arteriosclerosis.</strong>
Am. J. Med. Sci. 244: 763-779, 1962.
[PubMed: 13974938]
[Full Text: https://doi.org/10.1097/00000441-196212000-00014]
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Sheffield, L. J., Halliday, J. L., Danks, D. M., Rogers, J. G., Poulos, A., Morrison, N.
<strong>Clinical, radiological and biochemical classification of chondrodysplasia punctata. (Abstract)</strong>
Am. J. Hum. Genet. 45 (suppl.): A64, 1989.
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Silverman, F. N.
<strong>Dysplasies epiphysaires: entite proteiforme.</strong>
Ann. Radiol. 4: 833-867, 1961.
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Spranger, J. W., Opitz, J. M., Bidder, U.
<strong>Heterogeneity of chondrodysplasia punctata.</strong>
Humangenetik 11: 190-212, 1971.
[PubMed: 5544780]
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Stenflo, J., Suttie, J. W.
<strong>Vitamin K-dependent formation of gamma-carboxyglutamic acid.</strong>
Ann. Rev. Biochem. 46: 157-172, 1977.
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Sugarman, G. I.
<strong>Chondrodysplasia punctata (rhizomelic type): case report and pathologic findings. In: Bergsma, D. (ed.): Skeletal Dysplasias.</strong>
Amsterdam: Excerpta Medica (pub.) 1974. Pp. 334-340.
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Tasker, W. G., Mastri, A. R., Gold, A. P.
<strong>Chondrodystrophia calcificans congenita (dysplasia epiphysialis punctata): recognition of the clinical picture.</strong>
Am. J. Dis. Child. 119: 122-127, 1970.
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Viseskul, C., Opitz, J. M., Spranger, J. W., Hartmann, H. A., Gilbert, E. F.
<strong>Pathology of chondrodysplasia punctata rhizomelic type. In: Bergsma, D. (ed.): Skeletal Dysplasias.</strong>
Amsterdam: Excerpta Medica (pub.) 1974. Pp. 327-333.
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Wanders, R. J. A., Saelman, D., Heymans, H. S. A., Schutgens, R. B. H., Westerveld, A., Poll-The, B. T., Saudubray, J. M., Van den Bosch, H., Strijland, A., Schram, A. W., Tager, J. M.
<strong>Genetic relation between the Zellweger syndrome, infantile Refsum&#x27;s disease, and rhizomelic chondrodysplasia punctata. (Letter)</strong>
New Eng. J. Med. 314: 787-788, 1986.
[PubMed: 2419755]
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Wardinsky, T. D., Pagon, R. A., Powell, B. R., McGillivray, B., Stephan, M., Zonana, J., Moser, A.
<strong>Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports.</strong>
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[PubMed: 2208770]
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<strong>Genetics and molecular basis of human peroxisome biogenesis disorders.</strong>
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Wells, T. R., Landing, B. H., Bostwick, F. H.
<strong>Studies of vertebral coronal cleft in rhizomelic chondrodysplasia punctata.</strong>
Pediat. Path. 12: 593-600, 1992. Note: Erratum: Pediat. Path. 13: 123 only, 1993.
[PubMed: 1409157]
[Full Text: https://doi.org/10.3109/15513819209024210]
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White, A. L., Modaff, P., Holland-Morris, F., Pauli, R. M.
<strong>Natural history of rhizomelic chondrodysplasia punctata.</strong>
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