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<meta name="keywords" content="C0015306, aclases, diaphyseal, aclasis, diaphyseal, bessel-hagen disease, cartilaginous exostoses, multiple, cartilaginous exostosis, multiple, chondrodysplasia, hereditary deforming, chondrodysplasias, hereditary deforming, congenital abnormality, deforming chondrodysplasia, hereditary, deforming chondrodysplasias, hereditary, diaphyseal aclases, diaphyseal aclasia, diaphyseal aclasis, exostoses, familial, exostoses, hereditary multiple, exostoses, multiple, exostoses, multiple cartilaginous, exostoses, multiple hereditary, exostoses, multiple, type i, exostosis, familial, exostosis, hereditary multiple, exostosis, multiple, exostosis, multiple cartilaginous, ext, ext1, familial exostoses, familial exostosis, hereditary deforming chondrodysplasia, hereditary deforming chondrodysplasias, hereditary exostoses, multiple, hereditary multiple exostoses, hereditary multiple exostosis, hereditary multiple osteochondromas, hmo, multiple cartilaginous exostoses, multiple cartilaginous exostosis, multiple congenital exostosis, multiple exostoses, multiple exostoses type i, multiple exostoses, hereditary, multiple exostosis, multiple exostosis syndromes, multiple exostosis, hereditary, multiple hereditary exostoses, multiple ostechondromas, multiple osteochondroma, multiple osteochondromas, multiple osteochondromatosis, osteochondroma, multiple, osteochondromas, multiple, osteochondromatosis, osteochondromatosis syndrome, osteochondromatosis syndrome (disorder) [ambiguous], autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas, benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones. Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk for malignant degeneration is low (~2%-5%)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=4612
ConceptID=C0015306
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Multiple congenital exostosis<span class="h1sub">(EXT)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4612</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0015306</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>EXT; Hereditary multiple exostoses; Hereditary multiple exostosis; Hereditary multiple osteochondromas; MULTIPLE CARTILAGINOUS EXOSTOSES; Multiple exostoses; Multiple osteochondromas</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Hereditary multiple exostosis (254044004); Osteochondromatosis syndrome (254044004); Osteochondromatosis (254044004); Diaphyseal aclasia (254044004); Multiple osteochondromatosis (254044004); Multiple exostoses type I (254044004); Multiple congenital exostosis (254044004)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related gene:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
Gene(s) associated with related conditions. For conditions<br />
in a hierarchy, the parent condition will list the genes<br />
associated with the children conditions.</div></td>
<td><a target="_blank" href="/gene/2132">EXT2</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002762">HP:0002762</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0005508" target="_blank">MONDO:0005508</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/133700" target="_blank">133700</a>; <a href="https://omim.org/entry/608177" target="_blank">608177</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
<td><a href="https://omim.org/phenotypicSeries/PS133700" target="_blank">PS133700</a></td></tr>
<tr><td>Orphanet:</td>
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&amp;Expert=321">ORPHA321</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_101">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1235" target="_blank">Hereditary Multiple Osteochondromas</a></div><div>Hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas, benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones. Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk for malignant degeneration is low (~2%-5%). [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1235#ext.Summary" target="NBK1235">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK1235#ext.Diagnosis" target="NBK1235">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1235#ext.Clinical_Characteristics" target="NBK1235">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK1235#ext.Genetically_Related_Allelic_Disorder" target="NBK1235">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK1235#ext.Differential_Diagnosis" target="NBK1235">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1235#ext.Management" target="NBK1235">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK1235#ext.Genetic_Counseling" target="NBK1235">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK1235#ext.Resources" target="NBK1235">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK1235#ext.Molecular_Genetics" target="NBK1235">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK1235#ext.References" target="NBK1235">References</a>  |  <a class="medgenPMinfo" href="/books/NBK1235#ext.Chapter_Notes" target="NBK1235">Chapter Notes</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Wim Wuyts  |  Gregory A Schmale  |  Howard A Chansky<i>, et. al.</i>   <a href="/books/NBK1235" target="NBK1235" title="NCBI Bookshelf: Hereditary Multiple Osteochondromas">view full author information</a></div></div>
</div>
<div class="portlet mgSection" id="ID_117">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Hereditary multiple osteochondromas is a condition in which people develop multiple benign (noncancerous) bone tumors called osteochondromas. The number of osteochondromas and the bones on which they are located vary greatly among affected individuals. The osteochondromas are not present at birth, but approximately 96 percent of affected people develop multiple osteochondromas by the time they are 12 years old. Osteochondromas typically form at the end of long bones and on flat bones such as the hip and shoulder blade.<br /><br />Osteochondromas are typically benign; however, in some instances these tumors become malignant (cancerous). Researchers estimate that people with hereditary multiple osteochondromas have a 1 in 20 to 1 in 200 lifetime risk of developing cancerous osteochondromas (called sarcomas).<br /><br />Multiple osteochondromas can disrupt bone growth and can cause growth disturbances of the arms, hands, and legs, leading to short stature. Often these problems with bone growth do not affect the right and left limb equally, resulting in uneven limb lengths (limb length discrepancy). Bowing of the forearm or ankle and abnormal development of the hip joints (hip dysplasia) caused by osteochondromas can lead to difficulty walking and general discomfort. Multiple osteochondromas may also result in pain, limited range of joint movement, and pressure on nerves, blood vessels, the spinal cord, and tissues surrounding the osteochondromas.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/hereditary-multiple-osteochondromas">https://medlineplus.gov/genetics/condition/hereditary-multiple-osteochondromas</a></div></div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_3054"><div><strong>Chondrosarcoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3054</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0008479</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">A slowly growing malignant neoplasm derived from cartilage cells.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3054">Feature record</a> | <a href="/medgen?term=%22Chondrosarcoma%22%5BClinical%20Features%5D%20OR%203054%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_154364"><div><strong>Genu valgum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154364</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0576093</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">The legs angle inward, such that the knees are close together and the ankles far apart.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/154364">Feature record</a> | <a href="/medgen?term=%22Genu%20valgum%22%5BClinical%20Features%5D%20OR%20154364%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_323064"><div><strong>Short metacarpal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323064</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1837084</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/323064">Feature record</a> | <a href="/medgen?term=%22Short%20metacarpal%22%5BClinical%20Features%5D%20OR%20323064%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_342004"><div><strong>Madelung-like forearm deformities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342004</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1851419</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/342004">Feature record</a> | <a href="/medgen?term=%22Madelung-like%20forearm%20deformities%22%5BClinical%20Features%5D%20OR%20342004%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1790477"><div><strong>Coxa vara</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1790477</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5551440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1790477">Feature record</a> | <a href="/medgen?term=%22Coxa%20vara%22%5BClinical%20Features%5D%20OR%201790477%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_57691"><div><strong>Cervical myelopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57691</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0149645</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57691">Feature record</a> | <a href="/medgen?term=%22Cervical%20myelopathy%22%5BClinical%20Features%5D%20OR%2057691%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_343565"><div><strong>Peripheral nerve compression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343565</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1851414</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/343565">Feature record</a> | <a href="/medgen?term=%22Peripheral%20nerve%20compression%22%5BClinical%20Features%5D%20OR%20343565%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_4612"><div><strong>Multiple congenital exostosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4612</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0015306</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas, benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones. Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk for malignant degeneration is low (~2%-5%).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/4612">Feature record</a> | <a href="/medgen?term=%22Multiple%20congenital%20exostosis%22%5BClinical%20Features%5D%20OR%204612%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_322689"><div><strong>Rib exostoses</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322689</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1835579</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Multiple circumscribed bony excrescences located in the ribs.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/322689">Feature record</a> | <a href="/medgen?term=%22Rib%20exostoses%22%5BClinical%20Features%5D%20OR%20322689%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_335004"><div><strong>Pelvic bone exostoses</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335004</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1844689</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/335004">Feature record</a> | <a href="/medgen?term=%22Pelvic%20bone%20exostoses%22%5BClinical%20Features%5D%20OR%20335004%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_377019"><div><strong>Scapular exostoses</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377019</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1851415</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/377019">Feature record</a> | <a href="/medgen?term=%22Scapular%20exostoses%22%5BClinical%20Features%5D%20OR%20377019%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_342003"><div><strong>Protuberances at ends of long bones</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342003</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1851418</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/342003">Feature record</a> | <a href="/medgen?term=%22Protuberances%20at%20ends%20of%20long%20bones%22%5BClinical%20Features%5D%20OR%20342003%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1790477" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coxa vara</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_154364" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Genu valgum</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342004" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Madelung-like forearm deformities</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_323064" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short metacarpal</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4612" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple congenital exostosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335004" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pelvic bone exostoses</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342003" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Protuberances at ends of long bones</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322689" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rib exostoses</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_377019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scapular exostoses</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57691" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cervical myelopathy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343565" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripheral nerve compression</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3054" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chondrosarcoma</a></span></li></ul></li></ul></div></div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0015306[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=4612">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=4612" target="_blank" href="/omim/133700">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1235/" ref="ncbi_uid=4612">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=4612" ref="ncbi_uid=4612">V</a></span></span><span class="TLline">Multiple congenital exostosis</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1851413[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=377018">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=377018" target="_blank" href="/omim/133701">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1235/" ref="ncbi_uid=377018">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=377018" ref="ncbi_uid=377018">V</a></span></span><span class="TLline"><a href="/medgen/377018" ref="tree=GTR&amp;ncbi_uid=377018&amp;link_uid=377018" title="View MedGen record for 'Exostoses, multiple, type 2'">Exostoses, multiple, type 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=333090" target="_blank" href="/omim/600209">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/333090" ref="tree=GTR&amp;ncbi_uid=333090&amp;link_uid=333090" title="View MedGen record for 'Exostoses, multiple, type III'">Exostoses, multiple, type III</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842242" ref="tree=MeSH" title="MedGen record for Congenital disorder of glycosylation-related bone disorder">Congenital disorder of glycosylation-related bone disorder</a></span><ul><li><span class="matched_ds">Multiple congenital exostosis</span><ul><li><span class="TLline"><a href="/medgen/377018" ref="tree=MeSH" title="MedGen record for Exostoses, multiple, type 2">Exostoses, multiple, type 2</a></span></li><li><span class="TLline"><a href="/medgen/333090" ref="tree=MeSH" title="MedGen record for Exostoses, multiple, type III">Exostoses, multiple, type III</a></span></li><li><span class="TLline"><a href="/medgen/870708" ref="tree=MeSH" title="MedGen record for Multiple digital exostoses">Multiple digital exostoses</a></span></li><li><span class="TLline"><a href="/medgen/332012" ref="tree=MeSH" title="MedGen record for Multiple long-bone exostoses">Multiple long-bone exostoses</a></span></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_4612"><div><strong>Multiple congenital exostosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4612</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0015306</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas, benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones. Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk for malignant degeneration is low (~2%-5%).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/4612">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_75562"><div><strong>Leri-Weill dyschondrosteosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75562</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0265309</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The phenotypic spectrum of SHOX deficiency disorders, caused by haploinsufficiency of the short stature homeobox-containing gene (SHOX), ranges from Leri-Weill dyschondrosteosis (LWD) at the severe end of the spectrum to nonspecific short stature at the mild end of the spectrum. In adults with SHOX deficiency, the proportion of LWD versus short stature without features of LWD is not well defined. In LWD the classic clinical triad is short stature, mesomelia, and Madelung deformity. Mesomelia, in which the middle portion of a limb is shortened in relation to the proximal portion, can be evident first in school-aged children and increases with age in frequency and severity. Madelung deformity (abnormal alignment of the radius, ulna, and carpal bones at the wrist) typically develops in mid-to-late childhood and is more common and severe in females. The phenotype of short stature caused by SHOX deficiency in the absence of mesomelia and Madelung deformity (called SHOX-deficient short stature in this GeneReview) is highly variable, even within the same family.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/75562">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_98377"><div><strong>Metachondromatosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98377</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0410530</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">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).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98377">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_318657"><div><strong>Potocki-Shaffer syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318657</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1832588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p12-p11.2 region and is characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses (168500), and biparietal foramina (609597) (summary by Swarr et al., 2010).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/318657">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_371889"><div><strong>Multiple exostoses with spastic tetraparesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371889</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1834724</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/371889">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_333090"><div><strong>Exostoses, multiple, type III</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333090</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1838420</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/333090">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_377018"><div><strong>Exostoses, multiple, type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377018</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1851413</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas, benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones. Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk for malignant degeneration is low (~2%-5%).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/377018">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_338695"><div><strong>Exostoses-anetodermia-brachydactyly type E syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338695</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1851428</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/338695">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_401357"><div><strong>Polyposis, intestinal, with multiple exostoses</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401357</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1868005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/401357">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_382718"><div><strong>Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382718</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2675904</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">For a detailed discussion of the WAGR syndrome, see 194072. In a subgroup of individuals with the WAGR syndrome, obesity develops. The phenotype in this subset is associated with haploinsufficiency for the BDNF gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/382718">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_377018" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exostoses, multiple, type 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333090" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exostoses, multiple, type III</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338695" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exostoses-anetodermia-brachydactyly type E syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75562" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leri-Weill dyschondrosteosis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98377" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metachondromatosis</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (10)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_4612" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple congenital exostosis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371889" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple exostoses with spastic tetraparesis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_401357" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyposis, intestinal, with multiple exostoses</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318657" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Potocki-Shaffer syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382718" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome</a></div></span></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/29126381">A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Li Y,
Wang J,
Wang Z,
Tang J,
Yu T</span><br />
<span class="medgenPMjournal">BMC Med Genet</span>
2017 Nov 10;18(1):126.
doi: 10.1186/s12881-017-0488-2.
<span class="bold">PMID: </span><a href="/pubmed/29126381" target="_blank">29126381</a><a href="/pmc/articles/PMC5681804" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26690531">Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tanteles GA,
Nicolaou M,
Neocleous V,
Shammas C,
Loizidou MA,
Alexandrou A,
Ellina E,
Patsia N,
Sismani C,
Phylactou LA,
Christophidou-Anastasiadou V</span><br />
<span class="medgenPMjournal">J Genet</span>
2015 Dec;94(4):749-54.
doi: 10.1007/s12041-015-0564-3.
<span class="bold">PMID: </span><a href="/pubmed/26690531" target="_blank">26690531</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8221546">Differential diagnosis of pedal osseous neoplasms.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wu KK</span><br />
<span class="medgenPMjournal">Clin Podiatr Med Surg</span>
1993 Oct;10(4):683-715.
<span class="bold">PMID: </span><a href="/pubmed/8221546" target="_blank">8221546</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(multiple%20congenital%20exostosis)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (21)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/32507656">Chondrodysplasias and Aneurysmal Thoracic Aortopathy: An Emerging Tale of Molecular Intersection.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Verstraeten A,
Meester J,
Peeters S,
Mortier G,
Loeys B</span><br />
<span class="medgenPMjournal">Trends Mol Med</span>
2020 Aug;26(8):783-795.
Epub 2020 Jun 5
doi: 10.1016/j.molmed.2020.05.004.
<span class="bold">PMID: </span><a href="/pubmed/32507656" target="_blank">32507656</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28797512">Tumor Syndromes That Include Bone Tumors: An Update.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gnoli M,
Ponti F,
Sangiorgi L</span><br />
<span class="medgenPMjournal">Surg Pathol Clin</span>
2017 Sep;10(3):749-764.
doi: 10.1016/j.path.2017.04.009.
<span class="bold">PMID: </span><a href="/pubmed/28797512" target="_blank">28797512</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27480811">Syringomyelia in hereditary multiple exostosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Legare JM,
Modaff P,
Iskandar BJ,
Pauli RM</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2016 Nov;170(11):2956-2959.
Epub 2016 Aug 2
doi: 10.1002/ajmg.a.37854.
<span class="bold">PMID: </span><a href="/pubmed/27480811" target="_blank">27480811</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14654969">Hereditary multiple and isolated sporadic exostoses in the same kindred: identification of the causative gene (EXT2) and detection of a new mutation, nt112delAT, that distinguishes the two phenotypes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vujic M,
Bergman A,
Romanus B,
Wahlström J,
Martinsson T</span><br />
<span class="medgenPMjournal">Int J Mol Med</span>
2004 Jan;13(1):47-52.
<span class="bold">PMID: </span><a href="/pubmed/14654969" target="_blank">14654969</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10739291">Clinical and radiographic analysis of osteochondromas and growth disturbance in hereditary multiple exostoses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Porter DE,
Emerton ME,
Villanueva-Lopez F,
Simpson AH</span><br />
<span class="medgenPMjournal">J Pediatr Orthop</span>
2000 Mar-Apr;20(2):246-50.
<span class="bold">PMID: </span><a href="/pubmed/10739291" target="_blank">10739291</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20congenital%20exostosis%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (225)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36173374">Multiple Hereditary Exostoses-Family "Bone History" Revealed.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Silva SP,
Eugénio G</span><br />
<span class="medgenPMjournal">J Clin Rheumatol</span>
2022 Oct 1;28(7):e697-e698.
doi: 10.1097/RHU.0000000000001911.
<span class="bold">PMID: </span><a href="/pubmed/36173374" target="_blank">36173374</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33791832">An update on the imaging of diaphyseal aclasis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ellatif M,
Sharif B,
Lindsay D,
Pollock R,
Saifuddin A</span><br />
<span class="medgenPMjournal">Skeletal Radiol</span>
2021 Oct;50(10):1941-1962.
Epub 2021 Apr 1
doi: 10.1007/s00256-021-03770-3.
<span class="bold">PMID: </span><a href="/pubmed/33791832" target="_blank">33791832</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31444263">Osteochondroma of acromioclavicular joint.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baig MN,
O'Malley S,
Fenelon C,
Kaar K</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2019 Aug 22;12(8)
doi: 10.1136/bcr-2019-230246.
<span class="bold">PMID: </span><a href="/pubmed/31444263" target="_blank">31444263</a><a href="/pmc/articles/PMC6721748" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17419854">Sarcomatous transformation in diaphyseal aclasis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shah ZK,
Peh WC,
Wong Y,
Shek TW,
Davies AM</span><br />
<span class="medgenPMjournal">Australas Radiol</span>
2007 Apr;51(2):110-9.
doi: 10.1111/j.1440-1673.2007.01679.x.
<span class="bold">PMID: </span><a href="/pubmed/17419854" target="_blank">17419854</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15248015">Suspected abuse.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tay ET,
Levin TL</span><br />
<span class="medgenPMjournal">Clin Pediatr (Phila)</span>
2004 Jul-Aug;43(6):583-5.
doi: 10.1177/000992280404300614.
<span class="bold">PMID: </span><a href="/pubmed/15248015" target="_blank">15248015</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20congenital%20exostosis%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (356)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/24705345">Fibular lengthening for the management of translational talus instability in hereditary multiple exostoses patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lee DY,
Kim JI,
Song MH,
Choi ES,
Park MS,
Yoo WJ,
Chung CY,
Choi IH,
Cho TJ</span><br />
<span class="medgenPMjournal">J Pediatr Orthop</span>
2014 Oct-Nov;34(7):726-32.
doi: 10.1097/BPO.0000000000000181.
<span class="bold">PMID: </span><a href="/pubmed/24705345" target="_blank">24705345</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17628888">Cartilage-hair hypoplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Matesic D,
Hagan JB</span><br />
<span class="medgenPMjournal">Mayo Clin Proc</span>
2007 Jun;82(6):655.
doi: 10.4065/82.6.655.
<span class="bold">PMID: </span><a href="/pubmed/17628888" target="_blank">17628888</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9702400">Osteosarcoma and other bone cancers.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Himelstein BP</span><br />
<span class="medgenPMjournal">Curr Opin Oncol</span>
1998 Jul;10(4):326-33.
doi: 10.1097/00001622-199807000-00009.
<span class="bold">PMID: </span><a href="/pubmed/9702400" target="_blank">9702400</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8970759">Growth hormone therapy in two patients with hereditary multiple exostosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Galasso C,
Scirè G,
Sanna ML,
Carnazza S,
Bonaiuto F,
Boscherini B</span><br />
<span class="medgenPMjournal">Clin Pediatr (Phila)</span>
1996 Dec;35(12):657-61.
doi: 10.1177/000992289603501208.
<span class="bold">PMID: </span><a href="/pubmed/8970759" target="_blank">8970759</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6391111">Zinc binding ligands and complexes in zinc metabolism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lönnerdal B,
Keen CL,
Hurley LS</span><br />
<span class="medgenPMjournal">Adv Nutr Res</span>
1984;6:139-67.
doi: 10.1007/978-1-4613-2801-8_6.
<span class="bold">PMID: </span><a href="/pubmed/6391111" target="_blank">6391111</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20congenital%20exostosis%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (42)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/27480811">Syringomyelia in hereditary multiple exostosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Legare JM,
Modaff P,
Iskandar BJ,
Pauli RM</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2016 Nov;170(11):2956-2959.
Epub 2016 Aug 2
doi: 10.1002/ajmg.a.37854.
<span class="bold">PMID: </span><a href="/pubmed/27480811" target="_blank">27480811</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25868946">Stüve-Wiedemann syndrome in a neonate.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sarafidis K,
Piretzi K,
Agakidou E,
Kohlhase J,
Zafeiriou D</span><br />
<span class="medgenPMjournal">Pediatr Int</span>
2015 Apr;57(2):302-4.
doi: 10.1111/ped.12431.
<span class="bold">PMID: </span><a href="/pubmed/25868946" target="_blank">25868946</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24618404">Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mikelonis D,
Jorcyk CL,
Tawara K,
Oxford JT</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2014 Mar 12;9:34.
doi: 10.1186/1750-1172-9-34.
<span class="bold">PMID: </span><a href="/pubmed/24618404" target="_blank">24618404</a><a href="/pmc/articles/PMC3995696" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18271966">Multiple osteochondromas.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bovée JV</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2008 Feb 13;3:3.
doi: 10.1186/1750-1172-3-3.
<span class="bold">PMID: </span><a href="/pubmed/18271966" target="_blank">18271966</a><a href="/pmc/articles/PMC2276198" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10739291">Clinical and radiographic analysis of osteochondromas and growth disturbance in hereditary multiple exostoses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Porter DE,
Emerton ME,
Villanueva-Lopez F,
Simpson AH</span><br />
<span class="medgenPMjournal">J Pediatr Orthop</span>
2000 Mar-Apr;20(2):246-50.
<span class="bold">PMID: </span><a href="/pubmed/10739291" target="_blank">10739291</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20congenital%20exostosis%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (131)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/36443465">Millennium-old pathogenic Mendelian mutation discovery for multiple osteochondromas from a Gaelic Medieval graveyard.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jackson I,
Mattiangeli V,
Cassidy LM,
Murphy E,
Bradley DG</span><br />
<span class="medgenPMjournal">Eur J Hum Genet</span>
2023 Feb;31(2):248-251.
Epub 2022 Nov 28
doi: 10.1038/s41431-022-01219-2.
<span class="bold">PMID: </span><a href="/pubmed/36443465" target="_blank">36443465</a><a href="/pmc/articles/PMC9905557" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36360300">Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Caino S,
Cubilla MA,
Alba R,
Obregón MG,
Fano V,
Gómez A,
Zecchini L,
Lapunzina P,
Aza-Carmona M,
Heath KE,
Asteggiano CG</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2022 Nov 7;13(11)
doi: 10.3390/genes13112063.
<span class="bold">PMID: </span><a href="/pubmed/36360300" target="_blank">36360300</a><a href="/pmc/articles/PMC9690389" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35112464">Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rydzanicz M,
Glinkowski W,
Walczak A,
Koppolu A,
Kostrzewa G,
Gasperowicz P,
Pollak A,
Stawiński P,
Płoski R</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2022 May;188(5):1482-1487.
Epub 2022 Feb 2
doi: 10.1002/ajmg.a.62670.
<span class="bold">PMID: </span><a href="/pubmed/35112464" target="_blank">35112464</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20213384">The etiology of osteosarcoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ottaviani G,
Jaffe N</span><br />
<span class="medgenPMjournal">Cancer Treat Res</span>
2009;152:15-32.
doi: 10.1007/978-1-4419-0284-9_2.
<span class="bold">PMID: </span><a href="/pubmed/20213384" target="_blank">20213384</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8444246">Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mäkitie O,
Kaitila I</span><br />
<span class="medgenPMjournal">Eur J Pediatr</span>
1993 Mar;152(3):211-7.
doi: 10.1007/BF01956147.
<span class="bold">PMID: </span><a href="/pubmed/8444246" target="_blank">8444246</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20congenital%20exostosis%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (161)</a></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/35461249">Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Warnier H,
Barrea C,
Bethlen S,
Schrouff I,
Harvengt J</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2022 Apr 23;17(1):174.
doi: 10.1186/s13023-022-02323-8.
<span class="bold">PMID: </span><a href="/pubmed/35461249" target="_blank">35461249</a><a href="/pmc/articles/PMC9034487" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25186537">Multiple cartilaginous exostoses and development of chondrosarcomas--a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sonne-Holm E,
Wong C,
Sonne-Holm S</span><br />
<span class="medgenPMjournal">Dan Med J</span>
2014 Sep;61(9):A4895.
<span class="bold">PMID: </span><a href="/pubmed/25186537" target="_blank">25186537</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20congenital%20exostosis%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0015306%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (29)</a></li>
<li><a href="/gtr/tests?term=C0015306%5bDISCUI%5d&amp;filter=method%3A2%5F29" target="_blank">Detection of homozygosity (2)</a></li>
<li><a href="/gtr/tests?term=C0015306%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (33)</a></li>
<li><a href="/gtr/tests?term=C0015306%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (9)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0015306%5bDISCUI%5d" target="_blank">See all (38)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS133700" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=321" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Multiple%20congenital%20exostosis" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(multiple%20congenital%20exostosis)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Multiple%20congenital%20exostosis%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Hereditary+multiple+osteochondromas/9585" target="_blank">Genetic Alliance</a></li><li><a href="http://www.diseaseinfosearch.org/Multiple+congenital+exostosis/8916" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/exostoses_multiple_type_i" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Multiple%20congenital%20exostosis" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/hereditary-multiple-osteochondromas" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/7035/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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