{"orpha":2632,"name":"Langer mesomelic dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mesomelic dwarfism, Langer type"],"definition":"A rare, genetic skeletal dysplasia characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2632/","orphanet_url":"https://www.orpha.net/en/disease/detail/2632","names":{"fr":{"name":"Dysplasie mésomélique type Langer","synonyms":["Nanisme mésomélique type Langer"],"definition":"Dysplasie osseuse rare d'origine génétique caractérisée par une petite taille sévèrement disproportionnée en raison d'un raccourcissement mésomélique et rhizomélique des membres supérieurs et inférieurs."},"de":{"name":"Kleinwuchs, mesomeler, Typ Langer","definition":"Eine genetisch bedingte Skelettdysplasie, die durch eine schwere disproportionale Kleinwüchsigkeit mit mesomeler und rhizomeler Verkürzung der oberen und unteren Gliedmaßen gekennzeichnet ist."},"es":{"name":"Displasia mesomélica de Langer","synonyms":["Enanismo mesomélico tipo Langer"],"definition":"Es una displasia esquelética de carácter genético poco frecuente caracterizada por talla baja grave desproporcionada con acortamiento mesomélico y rizomélico de las extremidades superiores e inferiores."},"it":{"name":"Displasia mesomelica di Langer","synonyms":["Nanismo mesomelico tipo Langer"],"definition":"La displasia mesomelica di Langer (DML) è una displasia scheletrica genetica rara, caratterizzata da statura molto bassa sproporzionata, associata ad accorciamento mesomelico e rizomelico degli arti superiori e inferiori."},"nl":{"name":"Mesomele dysplasie van Langer","synonyms":["Mesomele dwerggroei, Langer-type"],"definition":"Een zeldzame, genetische skeletdysplasie, gekarakteriseerd door ernstige disproportionele kleine gestalte met mesomele en rhizomele verkorting van de bovenste en onderste ledematen."},"pt":{"name":"Displasia mesomélica de Langer","synonyms":["Nanismo mesomélico tipo Langer"],"definition":"A displasia mesomélica de Langer (LMD) é caracterizada por baixa estatura desproporcionada grave com encurtamento mesomélico e rizomélico dos membros superiores e inferiores."},"pl":{"name":"Dysplazja mezomeliczna Langera","synonyms":["Karłowatość mezomeliczna typu Langera"]},"cs":{"name":"Langerova mezomelická dysplázie","synonyms":["Mezomelické trpaslictví, Langerův typ"]},"uk":{"name":"Мезомелічна дисплазія Лангера","synonyms":["Мезомелічна карликовість, тип Лангера"],"definition":"A rare, genetic skeletal dysplasia characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs."},"zh":{"name":"Langer肢中部发育不良","synonyms":["肢中骨发育不良，Langer型"]},"tr":{"name":"Langer mezomelik displazi","synonyms":["Mezomelik cücelik, Langer tipi"]}},"xrefs":[{"source":"OMIM","code":"249700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.A","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"83297413"},{"source":"MONDO","code":"0009588","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537267","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432230","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3553","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93438,"name":"Mesomelic and rhizo-mesomelic dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"SHOX","name":"SHOX homeobox","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"12116254[PMID]_20301394[PMID]","hgnc":"10853","ensembl":"ENSG00000185960","omim":"312865","loci":["Xp22.33 and Yp11.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"23863349[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001191","label":"Abnormal carpal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006492","label":"Aplasia/Hypoplasia of the fibula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008873","label":"Disproportionate short-limb short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003067","label":"Madelung deformity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005026","label":"Mesomelic/rhizomelic limb shortening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100864","label":"Short femoral neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009465","label":"Ulnar deviation of finger","frequency":"Very frequent (99-80%)","criteria":null}]}}