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<title>
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Entry
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- #156250 - METACHONDROMATOSIS; METCDS
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- OMIM
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<span class="h4">#156250</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/156250"><strong>Clinical Synopsis</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#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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<div><a href="https://clinicaltrials.gov/search?cond=(METACHONDROMATOSIS) OR (PTPN11)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2311&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/4690" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=156250[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="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2499" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/30f70201-1b2c-451a-a8a7-2977c218d795/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 style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111512" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/156250" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA000354/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111512" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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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>SNOMEDCT:</strong> 205481009<br />
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<strong>ORPHA:</strong> 2499<br />
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<strong>DO:</strong> 0111512<br />
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">ICD+</a>
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</div>
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<div>
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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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156250
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</span>
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</span>
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<div>
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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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METACHONDROMATOSIS; METCDS
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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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<a id="phenotypeMap" class="mim-anchor"></a>
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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<a href="/geneMap/12/823?start=-3&limit=10&highlight=823">
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12q24.13
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</a>
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<span class="mim-font">
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Metachondromatosis
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<span class="mim-font">
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<a href="/entry/156250"> 156250 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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PTPN11
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<span class="mim-font">
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<a href="/entry/176876"> 176876 </a>
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<a href="/clinicalSynopsis/156250" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/156250" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/156250" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<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 id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<strong> Skel </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Multiple exostoses, esp. digits<br /> - Multiple enchondromatosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/268274005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">268274005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q78.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q78.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014084&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014084</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005701" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005701</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005701" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005701</a>]</span><br />
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<strong> Joints </strong>
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- No joint deformity, or subluxation<br />
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<span class="h5 mim-font">
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<strong> Misc </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Exostoses point toward nearby joint<br /> - Exostoses may resolve spontaneously<br /> - No shortening or bowing of long bones<br />
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<span class="h5 mim-font">
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<strong> Radiology </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Striations in metaphyses of long bones and iliac crests<br />
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<span class="h5 mim-font">
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<strong> Inheritance </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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 metachondromatosis (METCDS) is caused by heterozygous mutation in the PTPN11 gene (<a href="/entry/176876">176876</a>) on chromosome 12q24.</p>
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<strong>Description</strong>
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<p>Metachondromatosis is characterized by exostoses (osteochondromas), commonly of the hands and feet, and enchondromas of long bone metaphyses and iliac crests (summary by <a href="#9" class="mim-tip-reference" title="Sobreira, N. L. M., Cirulli, E. T., Avramopoulos, D., Wohler, E., Oswald, G. L., Stevens, E. L., Ge, D., Shianna, K. V., Smith, J. P., Maia, J. M., Gumbs, C. E., Pevsner, J., Thomas, G., Valle, D., Hoover-Fong, J. E., Goldstein, D. B. <strong>Whole-genome sequencing of a single proband together with linkage analysis identifies a mendelian disease gene.</strong> PLoS Genet. 6: e1000991, 2010. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20577567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20577567</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20577567[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/10.1371/journal.pgen.1000991" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20577567">Sobreira et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20577567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p><a href="#8" class="mim-tip-reference" title="Maroteaux, P. <strong>La metachondromatose.</strong> Z. Kinderheilk. 109: 246-261, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5313319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5313319</a>]" pmid="5313319">Maroteaux (1971)</a> described 2 families with skeletal radiologic features of both multiple exostoses (<a href="/entry/133700">133700</a>) and Ollier disease (<a href="/entry/166000">166000</a>). He called the disorder metachondromatosis and suggested autosomal dominant inheritance on the basis of 1 family with 5 affected persons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5313319" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Lachman, R. S., Cohen, A., Hollister, D. W., Rimoin, D. L. <strong>Metachondromatosis.</strong> Birth Defects Orig. Art. Ser. X(9): 171-178, 1974."None>Lachman et al. (1974)</a> reported a case. <a href="#6" class="mim-tip-reference" title="Kennedy, L. A. <strong>Metachondromatosis.</strong> Radiology 148: 117-118, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6602353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6602353</a>] [<a href="https://doi.org/10.1148/radiology.148.1.6602353" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6602353">Kennedy (1983)</a> presented the case of a 9.5-year-old boy in whom 'bumps' on the hands, feet and knees had been noted at age 5. In the next few years, some of these enlarged, new ones appeared, and others regressed. Peculiar striations were noted radiologically in the metaphyses of the long bones and iliac crests. The mother had a similar although milder history; x-ray showed a single exostosis in the wrist. The maternal grandfather had had lesions of the hands, feet, and knees, but none was evident at the time of radiologic study. Two cousins were said to have similar lesions. Differentiation from multiple exostoses of the classic type (<a href="/entry/133700">133700</a>) is important because of the usual regression with little or minimal residual deformity. Involvement of the hands and feet is the rule in metachondromatosis but is said by <a href="#6" class="mim-tip-reference" title="Kennedy, L. A. <strong>Metachondromatosis.</strong> Radiology 148: 117-118, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6602353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6602353</a>] [<a href="https://doi.org/10.1148/radiology.148.1.6602353" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6602353">Kennedy (1983)</a> to be unusual in classic multiple exostoses. Furthermore, in metachondromatosis, the exostoses point toward the epiphysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6602353" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Dorst, J. P. <strong>Personal Communication.</strong> Baltimore, Md. 6/14/1983."None>Dorst (1983)</a> observed metachondromatosis in a brother and sister of Korean extraction. The radiologic findings combined those of multiple exostoses, multiple enchondromatosis (Ollier disease), and dysplasia epiphysealis hemimelica (<a href="/entry/127800">127800</a>). No other affected relatives were known but the parents were not available for study.</p><p>In the family studied by <a href="#10" class="mim-tip-reference" title="Vanek, V. J. <strong>Metachondromatose: 3 Beobachtungen mit erblichen Vorkommen.</strong> Beitr. Orthop. Traumatol. 29: 103-107, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6979336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6979336</a>]" pmid="6979336">Vanek (1982)</a>, the mother of 2 of the affected persons had a history of exostoses as a child, which regressed as she grew older. X-ray studies showed no peripheral exostoses but the proximal end of one humerus was wide and a first metatarsal was abnormally thin. A brother was said also to have had nodular growths near joints as a child. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6979336" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Bassett, G. S., Cowell, H. R. <strong>Metachondromatosis: report of four cases.</strong> J. Bone Joint Surg. Am. 67: 811-814, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3873457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3873457</a>]" pmid="3873457">Bassett and Cowell (1985)</a> studied 4 members of a kindred that had at least 8 cases in all. They pointed out that the enchondromatous lesions involve the iliac crest and metaphyseal region of the long bones of the lower extremities as in Ollier disease. The exostoses of metachondromatosis, unlike those of hereditary multiple exostosis, point toward the nearby joint and do not cause shortening or bowing of the long bone, joint deformity, or subluxation. They affect particularly the digits and may resolve spontaneously. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3873457" 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>Metachondromatosis is an autosomal dominant disorder with incomplete penetrance (<a href="#2" class="mim-tip-reference" title="Bowen, M. E., Boyden, E. D., Holm, I. A., Campos-Xavier, B., Bonafe, L., Superti-Furga, A., Ikegawa, S., Cormier-Daire, V., Bovee, J. V., Pansuriya, T. C., de Sousa, S. B., Savarirayan, R., and 16 others. <strong>Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.</strong> PLoS Genet. 7: e1002050, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21533187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21533187</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21533187[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/10.1371/journal.pgen.1002050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21533187">Bowen et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21533187" 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="#9" class="mim-tip-reference" title="Sobreira, N. L. M., Cirulli, E. T., Avramopoulos, D., Wohler, E., Oswald, G. L., Stevens, E. L., Ge, D., Shianna, K. V., Smith, J. P., Maia, J. M., Gumbs, C. E., Pevsner, J., Thomas, G., Valle, D., Hoover-Fong, J. E., Goldstein, D. B. <strong>Whole-genome sequencing of a single proband together with linkage analysis identifies a mendelian disease gene.</strong> PLoS Genet. 6: e1000991, 2010. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20577567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20577567</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20577567[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/10.1371/journal.pgen.1000991" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20577567">Sobreira et al. (2010)</a> performed a genomewide scan in a 5-generation family segregating autosomal dominant metachondromatosis and identified 6 regions showing suggestive evidence for linkage, including chromosome 7p14.1 (maximum lod score, 2.5), 8q24.1, and 12q23 (lod score of 1.8 for both), and 2p25, 5q12.1, and 9q31.1-q33.1 (lod scores between 1.0 and 1.5). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20577567" 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="Bowen, M. E., Boyden, E. D., Holm, I. A., Campos-Xavier, B., Bonafe, L., Superti-Furga, A., Ikegawa, S., Cormier-Daire, V., Bovee, J. V., Pansuriya, T. C., de Sousa, S. B., Savarirayan, R., and 16 others. <strong>Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.</strong> PLoS Genet. 7: e1002050, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21533187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21533187</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21533187[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/10.1371/journal.pgen.1002050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21533187">Bowen et al. (2011)</a> performed linkage analysis with high-density SNP arrays in a family with metachondromatosis and identified an 8.6-Mb interval on chromosome 12 that attained a maximum lod score of 2.7. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21533187" 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="#9" class="mim-tip-reference" title="Sobreira, N. L. M., Cirulli, E. T., Avramopoulos, D., Wohler, E., Oswald, G. L., Stevens, E. L., Ge, D., Shianna, K. V., Smith, J. P., Maia, J. M., Gumbs, C. E., Pevsner, J., Thomas, G., Valle, D., Hoover-Fong, J. E., Goldstein, D. B. <strong>Whole-genome sequencing of a single proband together with linkage analysis identifies a mendelian disease gene.</strong> PLoS Genet. 6: e1000991, 2010. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20577567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20577567</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20577567[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/10.1371/journal.pgen.1000991" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20577567">Sobreira et al. (2010)</a> performed whole-genome sequencing in 1 affected individual from a 5-generation family with metachondromatosis and identified a heterozygous 11-bp deletion in the PTPN11 gene (<a href="/entry/176876#0025">176876.0025</a>); analysis of family members confirmed that the deletion segregated with the disease. Sequencing of the PTPN11 gene in another 3-generation family with autosomal dominant metachondromatosis revealed a heterozygous nonsense mutation (<a href="/entry/176876#0026">176876.0026</a>) in affected individuals. Neither mutation was detected in 469 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20577567" 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="Bowen, M. E., Boyden, E. D., Holm, I. A., Campos-Xavier, B., Bonafe, L., Superti-Furga, A., Ikegawa, S., Cormier-Daire, V., Bovee, J. V., Pansuriya, T. C., de Sousa, S. B., Savarirayan, R., and 16 others. <strong>Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.</strong> PLoS Genet. 7: e1002050, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21533187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21533187</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21533187[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/10.1371/journal.pgen.1002050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21533187">Bowen et al. (2011)</a> used a targeted array to capture exons and promoter sequences from an 8.6-Mb linked interval in 16 participants from 11 metachondromatosis families, and sequenced the captured DNA using high-throughput parallel sequencing technologies. They identified heterozygous putative loss-of-function mutations in the PTPN11 gene in 4 of the 11 families (<a href="/entry/176876#0028">176876.0028</a>-<a href="/entry/176876#0031">176876.0031</a>). Sanger sequence analysis of PTPN11 coding regions in the 7 remaining families and in 6 additional metachondromatosis families identified novel heterozygous mutations in 4 families (<a href="/entry/176876#0032">176876.0032</a>-<a href="/entry/176876#0035">176876.0035</a>). Copy number analysis of sequencing reads from a second targeted capture that included the entire PTPN11 gene identified an metachondromatosis patient with a 15-kb deletion spanning exon 7 of PTPN11 (<a href="/entry/176876#0036">176876.0036</a>). In total, of 17 metachondromatosis families, <a href="#2" class="mim-tip-reference" title="Bowen, M. E., Boyden, E. D., Holm, I. A., Campos-Xavier, B., Bonafe, L., Superti-Furga, A., Ikegawa, S., Cormier-Daire, V., Bovee, J. V., Pansuriya, T. C., de Sousa, S. B., Savarirayan, R., and 16 others. <strong>Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.</strong> PLoS Genet. 7: e1002050, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21533187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21533187</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21533187[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/10.1371/journal.pgen.1002050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21533187">Bowen et al. (2011)</a> identified mutations in 11 (5 frameshift, 2 nonsense, 3 splice site, and 1 large deletion). Each family had a different mutation, and the mutations were scattered across the gene. Microdissected metachondromatosis lesions from 2 patients with PTPN11 mutations demonstrated loss of heterozygosity for the wildtype allele. <a href="#2" class="mim-tip-reference" title="Bowen, M. E., Boyden, E. D., Holm, I. A., Campos-Xavier, B., Bonafe, L., Superti-Furga, A., Ikegawa, S., Cormier-Daire, V., Bovee, J. V., Pansuriya, T. C., de Sousa, S. B., Savarirayan, R., and 16 others. <strong>Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.</strong> PLoS Genet. 7: e1002050, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21533187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21533187</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21533187[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/10.1371/journal.pgen.1002050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21533187">Bowen et al. (2011)</a> suggested that metachondromatosis may be genetically heterogeneous because 1 familial and 5 sporadically occurring cases lacked obvious disease-causing PTPN11 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21533187" 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="#De1976" class="mim-tip-reference" title="De la Cruz, J., Garcia-Castro, J. M. <strong>Metachondromatosis: a diagnostic dilemma: apropos of studies in a Puerto Rican family.</strong> Bol. Assoc. Med. PR 68: 340-344, 1976.">De la Cruz and Garcia-Castro (1976)</a>; <a href="#Giedion1975" class="mim-tip-reference" title="Giedion, A., Kesztler, R., Muggiasca, F. <strong>The widened spectrum of multiple cartilaginous exostosis (MCE).</strong> Pediat. Radiol. 3: 93-100, 1975.">Giedion et al. (1975)</a>
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Bassett, G. S., Cowell, H. R.
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<strong>Metachondromatosis: report of four cases.</strong>
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J. Bone Joint Surg. Am. 67: 811-814, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3873457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3873457</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3873457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bowen, M. E., Boyden, E. D., Holm, I. A., Campos-Xavier, B., Bonafe, L., Superti-Furga, A., Ikegawa, S., Cormier-Daire, V., Bovee, J. V., Pansuriya, T. C., de Sousa, S. B., Savarirayan, R., and 16 others.
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<strong>Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.</strong>
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PLoS Genet. 7: e1002050, 2011. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21533187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21533187</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21533187[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=21533187" 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/10.1371/journal.pgen.1002050" target="_blank">Full Text</a>]
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De la Cruz, J., Garcia-Castro, J. M.
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<strong>Metachondromatosis: a diagnostic dilemma: apropos of studies in a Puerto Rican family.</strong>
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Bol. Assoc. Med. PR 68: 340-344, 1976.
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Dorst, J. P.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 6/14/1983.
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Giedion, A., Kesztler, R., Muggiasca, F.
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<strong>The widened spectrum of multiple cartilaginous exostosis (MCE).</strong>
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Pediat. Radiol. 3: 93-100, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1085923/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1085923</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1085923" 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/10.1007/BF01000121" target="_blank">Full Text</a>]
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Kennedy, L. A.
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<strong>Metachondromatosis.</strong>
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Radiology 148: 117-118, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6602353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6602353</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6602353" 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/10.1148/radiology.148.1.6602353" target="_blank">Full Text</a>]
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Lachman, R. S., Cohen, A., Hollister, D. W., Rimoin, D. L.
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<strong>Metachondromatosis.</strong>
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Birth Defects Orig. Art. Ser. X(9): 171-178, 1974.
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<a id="Maroteaux1971" class="mim-anchor"></a>
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Maroteaux, P.
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<strong>La metachondromatose.</strong>
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Z. Kinderheilk. 109: 246-261, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5313319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5313319</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5313319" 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="Sobreira2010" class="mim-anchor"></a>
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Sobreira, N. L. M., Cirulli, E. T., Avramopoulos, D., Wohler, E., Oswald, G. L., Stevens, E. L., Ge, D., Shianna, K. V., Smith, J. P., Maia, J. M., Gumbs, C. E., Pevsner, J., Thomas, G., Valle, D., Hoover-Fong, J. E., Goldstein, D. B.
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<strong>Whole-genome sequencing of a single proband together with linkage analysis identifies a mendelian disease gene.</strong>
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PLoS Genet. 6: e1000991, 2010. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20577567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20577567</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20577567[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=20577567" 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/10.1371/journal.pgen.1000991" target="_blank">Full Text</a>]
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<a id="Vanek1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vanek, V. J.
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<strong>Metachondromatose: 3 Beobachtungen mit erblichen Vorkommen.</strong>
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Beitr. Orthop. Traumatol. 29: 103-107, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6979336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6979336</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6979336" 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="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Nara Sobreira - updated : 5/15/2012
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 6/28/2010
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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carol : 05/21/2019
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carol : 05/25/2012<br>carol : 5/15/2012<br>carol : 5/15/2012<br>terry : 1/13/2011<br>carol : 6/28/2010<br>terry : 6/28/2010<br>carol : 9/2/2009<br>mimadm : 11/6/1994<br>warfield : 4/12/1994<br>supermim : 3/16/1992<br>carol : 3/3/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989
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<strong>#</strong> 156250
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<h3>
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METACHONDROMATOSIS; METCDS
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<strong>SNOMEDCT:</strong> 205481009;
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<strong>ORPHA:</strong> 2499;
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<strong>DO:</strong> 0111512;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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</th>
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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12q24.13
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<span class="mim-font">
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Metachondromatosis
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<span class="mim-font">
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156250
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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<span class="mim-font">
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PTPN11
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</span>
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</td>
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<span class="mim-font">
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176876
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that metachondromatosis (METCDS) is caused by heterozygous mutation in the PTPN11 gene (176876) on chromosome 12q24.</p>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Metachondromatosis is characterized by exostoses (osteochondromas), commonly of the hands and feet, and enchondromas of long bone metaphyses and iliac crests (summary by Sobreira et al., 2010). </p>
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<strong>Clinical Features</strong>
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<p>Maroteaux (1971) described 2 families with skeletal radiologic features of both multiple exostoses (133700) and Ollier disease (166000). He called the disorder metachondromatosis and suggested autosomal dominant inheritance on the basis of 1 family with 5 affected persons. </p><p>Lachman et al. (1974) reported a case. Kennedy (1983) presented the case of a 9.5-year-old boy in whom 'bumps' on the hands, feet and knees had been noted at age 5. In the next few years, some of these enlarged, new ones appeared, and others regressed. Peculiar striations were noted radiologically in the metaphyses of the long bones and iliac crests. The mother had a similar although milder history; x-ray showed a single exostosis in the wrist. The maternal grandfather had had lesions of the hands, feet, and knees, but none was evident at the time of radiologic study. Two cousins were said to have similar lesions. Differentiation from multiple exostoses of the classic type (133700) is important because of the usual regression with little or minimal residual deformity. Involvement of the hands and feet is the rule in metachondromatosis but is said by Kennedy (1983) to be unusual in classic multiple exostoses. Furthermore, in metachondromatosis, the exostoses point toward the epiphysis. </p><p>Dorst (1983) observed metachondromatosis in a brother and sister of Korean extraction. The radiologic findings combined those of multiple exostoses, multiple enchondromatosis (Ollier disease), and dysplasia epiphysealis hemimelica (127800). No other affected relatives were known but the parents were not available for study.</p><p>In the family studied by Vanek (1982), the mother of 2 of the affected persons had a history of exostoses as a child, which regressed as she grew older. X-ray studies showed no peripheral exostoses but the proximal end of one humerus was wide and a first metatarsal was abnormally thin. A brother was said also to have had nodular growths near joints as a child. </p><p>Bassett and Cowell (1985) studied 4 members of a kindred that had at least 8 cases in all. They pointed out that the enchondromatous lesions involve the iliac crest and metaphyseal region of the long bones of the lower extremities as in Ollier disease. The exostoses of metachondromatosis, unlike those of hereditary multiple exostosis, point toward the nearby joint and do not cause shortening or bowing of the long bone, joint deformity, or subluxation. They affect particularly the digits and may resolve spontaneously. </p>
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<span class="mim-font">
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<strong>Inheritance</strong>
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<span class="mim-text-font">
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<p>Metachondromatosis is an autosomal dominant disorder with incomplete penetrance (Bowen et al., 2011). </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</h4>
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<span class="mim-text-font">
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<p>Sobreira et al. (2010) performed a genomewide scan in a 5-generation family segregating autosomal dominant metachondromatosis and identified 6 regions showing suggestive evidence for linkage, including chromosome 7p14.1 (maximum lod score, 2.5), 8q24.1, and 12q23 (lod score of 1.8 for both), and 2p25, 5q12.1, and 9q31.1-q33.1 (lod scores between 1.0 and 1.5). </p><p>Bowen et al. (2011) performed linkage analysis with high-density SNP arrays in a family with metachondromatosis and identified an 8.6-Mb interval on chromosome 12 that attained a maximum lod score of 2.7. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>Sobreira et al. (2010) performed whole-genome sequencing in 1 affected individual from a 5-generation family with metachondromatosis and identified a heterozygous 11-bp deletion in the PTPN11 gene (176876.0025); analysis of family members confirmed that the deletion segregated with the disease. Sequencing of the PTPN11 gene in another 3-generation family with autosomal dominant metachondromatosis revealed a heterozygous nonsense mutation (176876.0026) in affected individuals. Neither mutation was detected in 469 controls. </p><p>Bowen et al. (2011) used a targeted array to capture exons and promoter sequences from an 8.6-Mb linked interval in 16 participants from 11 metachondromatosis families, and sequenced the captured DNA using high-throughput parallel sequencing technologies. They identified heterozygous putative loss-of-function mutations in the PTPN11 gene in 4 of the 11 families (176876.0028-176876.0031). Sanger sequence analysis of PTPN11 coding regions in the 7 remaining families and in 6 additional metachondromatosis families identified novel heterozygous mutations in 4 families (176876.0032-176876.0035). Copy number analysis of sequencing reads from a second targeted capture that included the entire PTPN11 gene identified an metachondromatosis patient with a 15-kb deletion spanning exon 7 of PTPN11 (176876.0036). In total, of 17 metachondromatosis families, Bowen et al. (2011) identified mutations in 11 (5 frameshift, 2 nonsense, 3 splice site, and 1 large deletion). Each family had a different mutation, and the mutations were scattered across the gene. Microdissected metachondromatosis lesions from 2 patients with PTPN11 mutations demonstrated loss of heterozygosity for the wildtype allele. Bowen et al. (2011) suggested that metachondromatosis may be genetically heterogeneous because 1 familial and 5 sporadically occurring cases lacked obvious disease-causing PTPN11 mutations. </p>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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De la Cruz and Garcia-Castro (1976); Giedion et al. (1975)
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p />
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</div>
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<ol>
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<p class="mim-text-font">
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Bassett, G. S., Cowell, H. R.
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<strong>Metachondromatosis: report of four cases.</strong>
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J. Bone Joint Surg. Am. 67: 811-814, 1985.
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[PubMed: 3873457]
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Bowen, M. E., Boyden, E. D., Holm, I. A., Campos-Xavier, B., Bonafe, L., Superti-Furga, A., Ikegawa, S., Cormier-Daire, V., Bovee, J. V., Pansuriya, T. C., de Sousa, S. B., Savarirayan, R., and 16 others.
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<strong>Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.</strong>
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PLoS Genet. 7: e1002050, 2011. Note: Electronic Article.
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[PubMed: 21533187]
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[Full Text: https://doi.org/10.1371/journal.pgen.1002050]
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De la Cruz, J., Garcia-Castro, J. M.
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<strong>Metachondromatosis: a diagnostic dilemma: apropos of studies in a Puerto Rican family.</strong>
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Bol. Assoc. Med. PR 68: 340-344, 1976.
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</li>
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<li>
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<p class="mim-text-font">
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Dorst, J. P.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 6/14/1983.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Giedion, A., Kesztler, R., Muggiasca, F.
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<strong>The widened spectrum of multiple cartilaginous exostosis (MCE).</strong>
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Pediat. Radiol. 3: 93-100, 1975.
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[PubMed: 1085923]
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[Full Text: https://doi.org/10.1007/BF01000121]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kennedy, L. A.
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<strong>Metachondromatosis.</strong>
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Radiology 148: 117-118, 1983.
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[PubMed: 6602353]
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[Full Text: https://doi.org/10.1148/radiology.148.1.6602353]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lachman, R. S., Cohen, A., Hollister, D. W., Rimoin, D. L.
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<strong>Metachondromatosis.</strong>
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Birth Defects Orig. Art. Ser. X(9): 171-178, 1974.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Maroteaux, P.
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<strong>La metachondromatose.</strong>
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Z. Kinderheilk. 109: 246-261, 1971.
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[PubMed: 5313319]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Sobreira, N. L. M., Cirulli, E. T., Avramopoulos, D., Wohler, E., Oswald, G. L., Stevens, E. L., Ge, D., Shianna, K. V., Smith, J. P., Maia, J. M., Gumbs, C. E., Pevsner, J., Thomas, G., Valle, D., Hoover-Fong, J. E., Goldstein, D. B.
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<strong>Whole-genome sequencing of a single proband together with linkage analysis identifies a mendelian disease gene.</strong>
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PLoS Genet. 6: e1000991, 2010. Note: Electronic Article.
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[PubMed: 20577567]
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[Full Text: https://doi.org/10.1371/journal.pgen.1000991]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Vanek, V. J.
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<strong>Metachondromatose: 3 Beobachtungen mit erblichen Vorkommen.</strong>
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Beitr. Orthop. Traumatol. 29: 103-107, 1982.
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[PubMed: 6979336]
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</p>
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</ol>
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<br />
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Nara Sobreira - updated : 5/15/2012<br>Marla J. F. O'Neill - updated : 6/28/2010
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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carol : 05/21/2019<br>carol : 05/25/2012<br>carol : 5/15/2012<br>carol : 5/15/2012<br>terry : 1/13/2011<br>carol : 6/28/2010<br>terry : 6/28/2010<br>carol : 9/2/2009<br>mimadm : 11/6/1994<br>warfield : 4/12/1994<br>supermim : 3/16/1992<br>carol : 3/3/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989
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