{"orpha":93356,"name":"Spondyloepimetaphyseal dysplasia, Missouri type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SEMD type 2","SEMD, Missouri type","Spondyloepimetaphyseal dysplasia type 2"],"definition":"Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93356/","orphanet_url":"https://www.orpha.net/en/disease/detail/93356","names":{"fr":{"name":"Dysplasie spondylo-épimétaphysaire type Missouri","synonyms":["Dysplasie spondylo-épimétaphysaire type 2","SEMD type 2","SEMD type Missouri"],"definition":"La dysplasie spondylo-épimétaphysaire (DSEM) type Missouri se caractérise par des anomalies métaphysaires modérées ou sévères, une atteinte épiphysaire modérée, un raccourcissement rhizomélique des membres inférieurs avec une incurvation des fémurs et/ou des tibias, un <i>coxa vara</i>, un <i>genu varum</i> et des vertèbres en forme de poire visibles dans l'enfance."},"de":{"name":"Dysplasie, spondyloepimetaphysäre, Typ Missouri","definition":"Der Missouri-Typ der Spondylo-epi-metaphysären Dysplasie ist gekennzeichnet durch moderat bis schwer veränderte Metaphysen, leichte Beteiligung der Epiphysen, rhizomele Verkürzung der unteren Gliedmaßen mit Verbiegung des Femurs und/oder der Tibia, Coxa vara, Genu varum und, im Kindesalter, birnenförmige Wirbel."},"es":{"name":"Displasia espondiloepimetafisaria tipo Missouri","synonyms":["Displasia espondiloepimetafisaria tipo 2","SEMD tipo 2","SEMD tipo Missouri"],"definition":"La displasia espondiloepimetafisaria tipo Missouri se caracteriza por cambios metafisarios de moderados a graves, afectación leve de la epífisis, acortamiento rizomélico de las extremidades inferiores con arqueamiento del fémur y/o tibia, coxa vara, genu varo y vértebras ovoides, durante la infancia."},"it":{"name":"Displasia spondiloepimetafisaria, tipo Missouri","synonyms":["Displasia spondiloepimetafisaria, tipo 2","SEMD, tipo 2","SEMD, tipo Missouri"]},"nl":{"name":"Spondylo-epimetafysaire dysplasie, Missouri-type","synonyms":["SEMD type 2","SEMD, Missouri-type","Spondylo-epimetafysaire dysplasie type 2"],"definition":"Spondylo-epimetafysaire dysplasie, Missouri-type wordt gekenmerkt door matige tot ernstige metafysaire veranderingen, milde epifysaire betrokkenheid, rhizomele verkorting van onderste ledematen met kromstand van femora en/of tibiae, coxa vara, genu varum (O-benen), en peervormige wervels in de kindertijd."},"pt":{"name":"Displasia espondiloepimetafisária, tipo Missouri","synonyms":["Displasia espondiloepimetafisária tipo 2","SEMD tipo 2","SEMD, tipo Missouri"],"definition":"A displasia espondiloepimetafisária, tipo Missouri é caracterizada por alterações metafisárias moderadas a graves, envolvimento epifisário ligeiro, encurtamento rizomélico dos membros inferiores com encurvamento dos femures e/ou tíbias, coxa vara, joelho varo e vértebras em forma de pera na infância."},"pl":{"name":"Dysplazja kręgowo-nasadowo-przynasadowa typu Missouri","synonyms":["SEMD typu 2","SEMD, typ Missouri","Spondyloepimetaphyseal dysplasia type 2"]},"cs":{"name":"Spondyloepimetafyzární dysplázie, typ Missouri","synonyms":["SEMD typ 2","SEMD, typ Missouri","Spondyloepimetafyzární dysplázie, typ 2"]},"uk":{"name":"Спондилоепіметафізарна дисплазія, тип Міссурі","synonyms":["SEMD тип 2","SEMD, тип Міссурі","Спондилоепіметафізарна дисплазія типу 2"],"definition":"Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood."},"zh":{"name":"脊椎干骺端发育不良，Missouri型","synonyms":["脊椎干骺端发育不良2型"],"definition":"Missouri型脊椎骨骺-干骺端发育不良的特征是儿童期中重度干骺端改变、轻度骨骺受累、下肢近端缩短伴股骨和/或胫骨弯曲、髋内翻、膝内翻和梨形椎体。"},"tr":{"name":"Spondiloepimetafizyal displazi, Missouri tipi","synonyms":["SEMD tip 2","SEMD, Missouri tipi","Spondiloepimetafizyal displazi tip 2"]}},"xrefs":[{"source":"OMIM","code":"602111","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1593289281"},{"source":"MONDO","code":"0011198","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566574","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1865832","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10618","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"MMP13","name":"matrix metallopeptidase 13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"7159","ensembl":"ENSG00000137745","omim":"600108","loci":["11q22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"9258750[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-07-02","source":"9258750[PMID]_16167086[PMID]","terms":[{"hpo":"HP:0003498","label":"Disproportionate short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002980","label":"Femoral bowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003015","label":"Flared metaphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003071","label":"Flattened epiphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005086","label":"Knee osteoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003025","label":"Metaphyseal irregularity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004566","label":"Pear-shaped vertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006385","label":"Short lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010585","label":"Small epiphyses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025369","label":"Thick growth plates","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002982","label":"Tibial bowing","frequency":"Frequent (79-30%)","criteria":null}]}}