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Entry
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- #250460 - METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH
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- OMIM
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<p>
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<span class="h4">#250460</span>
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<br />
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<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/250460"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#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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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div><a href="https://clinicaltrials.gov/search?cond=METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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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=3568&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Cartilage-hair hypoplasia </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1817&Typ=Pat" title="Metaphyseal dysplasia without hypotrichosis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Metaphyseal dysplasia with… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK84550/" 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><a href="https://www.diseaseinfosearch.org/x/4702" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/rmrp" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=250460[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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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=175" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Cartilage-hair hypoplasia</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1838" title="Metaphyseal dysplasia without hypotrichosis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Metaphyseal dysplasia with…</a></div>
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</div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/7be15349-bbe6-48a9-bc8e-c07cbafc4ad4/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://omia.org/results?search_type=advanced&omia_id=000540,001278" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</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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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 175, 1838<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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250460
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</span>
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</span>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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CARTILAGE-HAIR HYPOPLASIA-LIKE SKELETAL DYSPLASIA WITHOUT HYPOTRICHOSIS OR IMMUNODEFICIENCY<br />
|
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CARTILAGE-HAIR HYPOPLASIA VARIANT, SKELETAL MANIFESTATIONS ONLY; CHHV
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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<a href="/geneMap/9/170?start=-3&limit=10&highlight=170">
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9p13.3
|
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Metaphyseal dysplasia without hypotrichosis
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/250460"> 250460 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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|
<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">
|
|
RMRP
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/157660"> 157660 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
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|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/250460" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
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|
|
|
|
|
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|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/250460" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/250460" 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>
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|
|
|
|
<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">
|
|
|
|
- Disproportionate dwarfism <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855165&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855165</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> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Normal facies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837086&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837086</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> Nasopharynx </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Rhinosinusitis, recurrent <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228664&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228664</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/897656009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">897656009</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">
|
|
|
|
- Joint laxity, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855167&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855167</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298203008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298203008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/788453008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">788453008</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</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">
|
|
|
|
- Normal spine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855168</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pelvis </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Normal pelvis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855169&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855169</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">
|
|
|
|
- Metaphyseal dysplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27837003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27837003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q78.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q78.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265294&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265294</a>, <a href="https://bioportal.bioontology.org/search?q=C5194606&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5194606</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100255" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100255</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100255" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100255</a>]</span><br /> -
|
|
Limb shortening <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239399&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239399</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009826" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009826</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009826" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009826</a>]</span><br /> -
|
|
Short long bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854912&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854912</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003026" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003026</a>]</span><br /> -
|
|
Genu varus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299331007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299331007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.16" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.16</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0544755&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0544755</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002970" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002970</a>]</span><br /> -
|
|
Metaphyseal irregularities (distal femora, proximal and distal tibiae, distal radii and ulnae) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855170&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855170</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003025" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003025</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Phalangeal cone-shaped epiphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5574949&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5574949</a>, <a href="https://bioportal.bioontology.org/search?q=C1859480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859480</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010230" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010230</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0034281" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034281</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034281" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034281</a>]</span><br /> -
|
|
Short metacarpals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837084&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837084</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010049</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010049</a>]</span><br /> -
|
|
Metacarpal/metaphyseal cupping <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855171&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855171</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006028</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> Hair </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Normal hair <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/830002000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">830002000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849203&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849203</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
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<strong> IMMUNOLOGY </strong>
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- Abnormal lymphocyte proliferation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4531169&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4531169</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031378" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031378</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031378" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031378</a>]</span><br /> -
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Immunodeficiency, late-onset (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775201&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775201</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/234532001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">234532001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D84.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D84.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/279.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">279.3</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002721" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002721</a>]</span><br />
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<strong> NEOPLASIA </strong>
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Neuroendocrine carcinoma (in 1 patient) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1286767006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1286767006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253000007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0206695&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0206695</a>]</span><br />
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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- Allelic to cartilage-hair hypoplasia (<a href="/entry/250250">250250</a>)<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the mitochondrial RNA-processing endoribonuclease gene (RMRP, <a href="/entry/157660#0009">157660.0009</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that metaphyseal dysplasia without hypotrichosis (MDWH) is caused by homozygous or compound heterozygous mutation in the RMRP gene (<a href="/entry/157660">157660</a>) on chromosome 9p13.</p>
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<p>Metaphyseal dysplasia without hypotrichosis (MDWH) is a rare autosomal recessive skeletal dysplasia. Patients present in childhood with isolated chondrodysplasia. Hair is normal in most patients. Some patients develop later-onset extraskeletal manifestations including immunodeficiency and malignancy (summary by <a href="#2" class="mim-tip-reference" title="Vakkilainen, S., Costantini, A., Taskinen, M., Wartiovaara-Kautto, U., Makitie, O. <strong>'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.</strong> J. Med. Genet 57: 18-22, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31413121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31413121</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31413121[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2019-106131" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31413121">Vakkilainen et al., 2020</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31413121" 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>Mutations in RMRP also cause 2 other skeletal dysplasias, anauxetic dysplasia-1 (ANXD1; <a href="/entry/607095">607095</a>) and cartilage-hair hypoplasia (CHH; <a href="/entry/250250">250250</a>), which, although more severe, share some features with MDWH.</p>
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<p><a href="#3" class="mim-tip-reference" title="Verloes, A., Pierard, G. E., Le Merrer, M., Maroteaux, P. <strong>Recessive metaphyseal dysplasia without hypotrichosis: a syndrome clinically distinct from McKusick cartilage-hair hypoplasia.</strong> J. Med. Genet. 27: 693-696, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2277385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2277385</a>] [<a href="https://doi.org/10.1136/jmg.27.11.693" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2277385">Verloes et al. (1990)</a> presented a series of 6 patients with skeletal changes precisely like those of cartilage-hair hypoplasia (CHH; <a href="/entry/250250">250250</a>), but without hypotrichosis or immunodeficiency. Two of the patients were sibs. Microscopic examination of the hair showed a reduction in the diameter of the hair shaft. <a href="#3" class="mim-tip-reference" title="Verloes, A., Pierard, G. E., Le Merrer, M., Maroteaux, P. <strong>Recessive metaphyseal dysplasia without hypotrichosis: a syndrome clinically distinct from McKusick cartilage-hair hypoplasia.</strong> J. Med. Genet. 27: 693-696, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2277385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2277385</a>] [<a href="https://doi.org/10.1136/jmg.27.11.693" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2277385">Verloes et al. (1990)</a> suggested that this may be a form of metaphyseal dysplasia allelic to CHH. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2277385" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Vakkilainen, S., Costantini, A., Taskinen, M., Wartiovaara-Kautto, U., Makitie, O. <strong>'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.</strong> J. Med. Genet 57: 18-22, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31413121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31413121</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31413121[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2019-106131" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31413121">Vakkilainen et al. (2020)</a> reported a patient with a phenotype consistent with metaphyseal dysplasia without hypotrichosis (MDWH) in childhood who developed severe bone marrow failure in early adulthood. Birth length was short (-2.4 SD) and she developed progressive short stature that did not respond to growth hormone therapy. At age 7 years radiographs showed skeletal changes consistent with epiphyseal dysplasia, particularly in the hands and hips; mild metaphyseal involvement was also seen but became less apparent with age. She had several surgeries for leg deformities and developed scoliosis. Hair was normal. She had mild lymphopenia, but no other immunologic evaluations were pursued. Evaluation for fatigue at age 18 years showed pancytopenia with no detectable neutrophils. Bone marrow exam showed normal cellularity, but absence of granulopoiesis and overrepresentation of lymphocytes. Because of persistence of agranulocytosis despite medical treatment, she received a hematopoietic stem cell transplant from an HLA-identical donor. Despite normal bone marrow cellularity and full chimerism, peripheral blood cell counts remained low 11 months after the transplant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31413121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Vakkilainen, S., Costantini, A., Taskinen, M., Wartiovaara-Kautto, U., Makitie, O. <strong>'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.</strong> J. Med. Genet 57: 18-22, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31413121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31413121</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31413121[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2019-106131" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31413121">Vakkilainen et al. (2020)</a> collected clinical and laboratory data on 80 Finnish patients with mutations in the RMRP gene followed for over 30 years, 10 with only skeletal features during preschool age meeting the criteria for MDWH, and 70 with a clinical presentation typical of CHH. When clinical symptoms, radiographic features, and laboratory results between these 2 groups were compared, the only difference seen was that the mean birth length was larger among those with MDWH (-2.03 SD vs -3.06 SD, p = 0.03). Among the 10 MDWH patients, 8 developed extraskeletal manifestations later in life. Two developed malignancy (Hodgkin lymphoma and neuroendocrine carcinoma); both patients died during cancer treatment. Six patients developed signs of immunodeficiency including recurrent episodes of otitis media, rhinosinusitis, pneumonia, and bronchiectasis. Abnormal lymphocyte proliferation was detected in 4 patients before the development of clinical immunodeficiency and malignancy. Two of the 10 patients with MDWH had not yet developed extraskeletal manifestations at ages 28 and 34 years, other than pollen allergy. However, one of these had an asymptomatic specific antibody deficiency and the other had low levels of peripheral B cells. The authors proposed that patients with MDWH can develop serious late-onset extraskeletal manifestations and should be reclassified and managed as CHH. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31413121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of MDWH in the families reported by <a href="#1" class="mim-tip-reference" title="Bonafe, L., Schmitt, K., Eich, G., Giedion, A., Superti-Furga, A. <strong>RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.</strong> Clin. Genet. 61: 146-151, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940090</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2002.610210.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11940090">Bonafe et al. (2002)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11940090" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 unrelated boys with the cartilage-hair hypoplasia variant with only skeletal manifestations, <a href="#1" class="mim-tip-reference" title="Bonafe, L., Schmitt, K., Eich, G., Giedion, A., Superti-Furga, A. <strong>RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.</strong> Clin. Genet. 61: 146-151, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940090</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2002.610210.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11940090">Bonafe et al. (2002)</a> identified compound heterozygous mutations (<a href="/entry/157660#0001">157660.0001</a>; <a href="/entry/157660#0009">157660.0009</a>-<a href="/entry/157660#0011">157660.0011</a>) in the RMRP gene that segregated with the disorder in both families. <a href="#1" class="mim-tip-reference" title="Bonafe, L., Schmitt, K., Eich, G., Giedion, A., Superti-Furga, A. <strong>RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.</strong> Clin. Genet. 61: 146-151, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940090</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2002.610210.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11940090">Bonafe et al. (2002)</a> suggested that short stature and metaphyseal changes associated with cone-shaped epiphyses of the hands should raise the diagnostic possibility of a CHH-related disorder that can then be confirmed by mutation analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11940090" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with MDWH, <a href="#2" class="mim-tip-reference" title="Vakkilainen, S., Costantini, A., Taskinen, M., Wartiovaara-Kautto, U., Makitie, O. <strong>'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.</strong> J. Med. Genet 57: 18-22, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31413121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31413121</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31413121[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2019-106131" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31413121">Vakkilainen et al. (2020)</a> identified compound heterozygosity for variants in the RMRP gene (<a href="/entry/157660#0023">157660.0023</a> and <a href="/entry/157660#0024">157660.0024</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31413121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 10 Finnish patients with MDWH, <a href="#2" class="mim-tip-reference" title="Vakkilainen, S., Costantini, A., Taskinen, M., Wartiovaara-Kautto, U., Makitie, O. <strong>'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.</strong> J. Med. Genet 57: 18-22, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31413121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31413121</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31413121[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2019-106131" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31413121">Vakkilainen et al. (2020)</a> found that 7 were homozygous for the common 71A-G founder mutation (<a href="/entry/157660#0001">157660.0001</a>) and 3 were compound heterozygous for the founder mutation with 263G-T (<a href="/entry/157660#0002">157660.0002</a>). No evidence of genotype-phenotype correlation was seen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31413121" 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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Bonafe, L., Schmitt, K., Eich, G., Giedion, A., Superti-Furga, A.
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<strong>RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.</strong>
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Clin. Genet. 61: 146-151, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940090</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11940090" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1034/j.1399-0004.2002.610210.x" target="_blank">Full Text</a>]
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Vakkilainen, S., Costantini, A., Taskinen, M., Wartiovaara-Kautto, U., Makitie, O.
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<strong>'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.</strong>
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J. Med. Genet 57: 18-22, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31413121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31413121</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31413121[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31413121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2019-106131" target="_blank">Full Text</a>]
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Verloes, A., Pierard, G. E., Le Merrer, M., Maroteaux, P.
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<strong>Recessive metaphyseal dysplasia without hypotrichosis: a syndrome clinically distinct from McKusick cartilage-hair hypoplasia.</strong>
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J. Med. Genet. 27: 693-696, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2277385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2277385</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2277385" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.27.11.693" target="_blank">Full Text</a>]
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Sonja A. Rasmussen - updated : 09/21/2022
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Sonja A. Rasmussen - updated : 07/27/2022<br>Victor A. McKusick - updated : 5/10/2002
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Victor A. McKusick : 12/6/1990
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alopez : 09/21/2022
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alopez : 09/21/2022<br>alopez : 07/27/2022<br>alopez : 03/21/2017<br>carol : 03/20/2015<br>alopez : 5/28/2002<br>alopez : 5/28/2002<br>terry : 5/10/2002<br>alopez : 7/31/1997<br>mimadm : 2/19/1994<br>supermim : 3/17/1992<br>carol : 12/6/1990
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METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH
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CARTILAGE-HAIR HYPOPLASIA-LIKE SKELETAL DYSPLASIA WITHOUT HYPOTRICHOSIS OR IMMUNODEFICIENCY<br />
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CARTILAGE-HAIR HYPOPLASIA VARIANT, SKELETAL MANIFESTATIONS ONLY; CHHV
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9p13.3
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Metaphyseal dysplasia without hypotrichosis
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250460
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Autosomal recessive
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3
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RMRP
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157660
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<p>A number sign (#) is used with this entry because of evidence that metaphyseal dysplasia without hypotrichosis (MDWH) is caused by homozygous or compound heterozygous mutation in the RMRP gene (157660) on chromosome 9p13.</p>
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<strong>Description</strong>
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<p>Metaphyseal dysplasia without hypotrichosis (MDWH) is a rare autosomal recessive skeletal dysplasia. Patients present in childhood with isolated chondrodysplasia. Hair is normal in most patients. Some patients develop later-onset extraskeletal manifestations including immunodeficiency and malignancy (summary by Vakkilainen et al., 2020). </p><p>Mutations in RMRP also cause 2 other skeletal dysplasias, anauxetic dysplasia-1 (ANXD1; 607095) and cartilage-hair hypoplasia (CHH; 250250), which, although more severe, share some features with MDWH.</p>
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<strong>Clinical Features</strong>
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<p>Verloes et al. (1990) presented a series of 6 patients with skeletal changes precisely like those of cartilage-hair hypoplasia (CHH; 250250), but without hypotrichosis or immunodeficiency. Two of the patients were sibs. Microscopic examination of the hair showed a reduction in the diameter of the hair shaft. Verloes et al. (1990) suggested that this may be a form of metaphyseal dysplasia allelic to CHH. </p><p>Vakkilainen et al. (2020) reported a patient with a phenotype consistent with metaphyseal dysplasia without hypotrichosis (MDWH) in childhood who developed severe bone marrow failure in early adulthood. Birth length was short (-2.4 SD) and she developed progressive short stature that did not respond to growth hormone therapy. At age 7 years radiographs showed skeletal changes consistent with epiphyseal dysplasia, particularly in the hands and hips; mild metaphyseal involvement was also seen but became less apparent with age. She had several surgeries for leg deformities and developed scoliosis. Hair was normal. She had mild lymphopenia, but no other immunologic evaluations were pursued. Evaluation for fatigue at age 18 years showed pancytopenia with no detectable neutrophils. Bone marrow exam showed normal cellularity, but absence of granulopoiesis and overrepresentation of lymphocytes. Because of persistence of agranulocytosis despite medical treatment, she received a hematopoietic stem cell transplant from an HLA-identical donor. Despite normal bone marrow cellularity and full chimerism, peripheral blood cell counts remained low 11 months after the transplant. </p><p>Vakkilainen et al. (2020) collected clinical and laboratory data on 80 Finnish patients with mutations in the RMRP gene followed for over 30 years, 10 with only skeletal features during preschool age meeting the criteria for MDWH, and 70 with a clinical presentation typical of CHH. When clinical symptoms, radiographic features, and laboratory results between these 2 groups were compared, the only difference seen was that the mean birth length was larger among those with MDWH (-2.03 SD vs -3.06 SD, p = 0.03). Among the 10 MDWH patients, 8 developed extraskeletal manifestations later in life. Two developed malignancy (Hodgkin lymphoma and neuroendocrine carcinoma); both patients died during cancer treatment. Six patients developed signs of immunodeficiency including recurrent episodes of otitis media, rhinosinusitis, pneumonia, and bronchiectasis. Abnormal lymphocyte proliferation was detected in 4 patients before the development of clinical immunodeficiency and malignancy. Two of the 10 patients with MDWH had not yet developed extraskeletal manifestations at ages 28 and 34 years, other than pollen allergy. However, one of these had an asymptomatic specific antibody deficiency and the other had low levels of peripheral B cells. The authors proposed that patients with MDWH can develop serious late-onset extraskeletal manifestations and should be reclassified and managed as CHH. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of MDWH in the families reported by Bonafe et al. (2002) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In 2 unrelated boys with the cartilage-hair hypoplasia variant with only skeletal manifestations, Bonafe et al. (2002) identified compound heterozygous mutations (157660.0001; 157660.0009-157660.0011) in the RMRP gene that segregated with the disorder in both families. Bonafe et al. (2002) suggested that short stature and metaphyseal changes associated with cone-shaped epiphyses of the hands should raise the diagnostic possibility of a CHH-related disorder that can then be confirmed by mutation analysis. </p><p>In a patient with MDWH, Vakkilainen et al. (2020) identified compound heterozygosity for variants in the RMRP gene (157660.0023 and 157660.0024). </p><p>In 10 Finnish patients with MDWH, Vakkilainen et al. (2020) found that 7 were homozygous for the common 71A-G founder mutation (157660.0001) and 3 were compound heterozygous for the founder mutation with 263G-T (157660.0002). No evidence of genotype-phenotype correlation was seen. </p>
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<strong>REFERENCES</strong>
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Bonafe, L., Schmitt, K., Eich, G., Giedion, A., Superti-Furga, A.
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<strong>RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.</strong>
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Clin. Genet. 61: 146-151, 2002.
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[PubMed: 11940090]
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[Full Text: https://doi.org/10.1034/j.1399-0004.2002.610210.x]
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Vakkilainen, S., Costantini, A., Taskinen, M., Wartiovaara-Kautto, U., Makitie, O.
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<strong>'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.</strong>
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J. Med. Genet 57: 18-22, 2020.
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[PubMed: 31413121]
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[Full Text: https://doi.org/10.1136/jmedgenet-2019-106131]
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Verloes, A., Pierard, G. E., Le Merrer, M., Maroteaux, P.
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<strong>Recessive metaphyseal dysplasia without hypotrichosis: a syndrome clinically distinct from McKusick cartilage-hair hypoplasia.</strong>
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J. Med. Genet. 27: 693-696, 1990.
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[PubMed: 2277385]
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[Full Text: https://doi.org/10.1136/jmg.27.11.693]
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Contributors:
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Sonja A. Rasmussen - updated : 09/21/2022<br>Sonja A. Rasmussen - updated : 07/27/2022<br>Victor A. McKusick - updated : 5/10/2002
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 12/6/1990
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alopez : 09/21/2022<br>alopez : 09/21/2022<br>alopez : 07/27/2022<br>alopez : 03/21/2017<br>carol : 03/20/2015<br>alopez : 5/28/2002<br>alopez : 5/28/2002<br>terry : 5/10/2002<br>alopez : 7/31/1997<br>mimadm : 2/19/1994<br>supermim : 3/17/1992<br>carol : 12/6/1990
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