{"orpha":2733,"name":"Omodysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2733/","orphanet_url":"https://www.orpha.net/en/disease/detail/2733","names":{"fr":{"name":"Omodysplasie","definition":"L'omodysplasie est une dysplasie squelettique rare caractérisée par un raccourcissement extrême des membres et une dysmorphie faciale. Deux types d'omodysplasie ont été décrits : une forme autosomique récessive ou généralisée (également appelée dysplasie micromélique avec luxation du radius) marquée par un nanisme micromélique sévère avec un raccourcissement des membres supérieurs et inférieurs surtout rhizomélique, et une forme autosomique dominante dans laquelle la taille est normale et le raccourcissement est limité aux membres supérieurs."},"de":{"name":"Omodysplasie","definition":"Die Omodysplasie ist eine seltene Skelettdysplasie mit starker Verkürzung der Gliedmaßen und mit fazialen Dysmorphien. Zwei Typen der Omodysplasie wurden beschrieben: (i) Die autosomal-rezessive oder generalisierte Form (auch Mikromele Dysplasie mit Radius-Dislokation genannt) ist gekennzeichnet durch schweren mikromelen Kleinwuchs mit überwiegend rhizomeler Verkürzung der oberen und unteren Gliedmaßen. (ii) Bei der autosomal-dominanten Form ist die Statur normal, und nur die oberen Gliedmaßen sind verkürzt."},"es":{"name":"Omodisplasia","definition":"La omodisplasia es una displasia esquelética rara caracterizada por dismorfia facial y acortamiento extremo de los miembros. Se han descrito dos tipos de omodisplasia: una forma autosómica recesiva o generalizada (también llamada displasia micromélica con luxación de radios) marcada por enanismo micromélico grave con acortamiento, normalmente rizomélico, de los miembros superiores e inferiores; y una forma autosómica dominante, en la que la altura es normal y el acortamiento se limita a los miembros superiores."},"it":{"name":"Omodisplasia"},"nl":{"name":"Omodysplasie","definition":"Een zeldzame skeletdysplasie, gekenmerkt door ernstige verkorting van ledematen en faciale dysmorfie. Er werden twee types van omodysplasie beschreven: een autosomaal recessieve of gegeneraliseerde vorm (ook gekend als micromele dysplasie met luxatie van radius), gekenmerkt door ernstige micromele dwerggroei met hoofdzakelijk rhizomele verkorting van zowel bovenste als onderste ledematen, en een autosomaal dominante vorm waarbij gestalte normaal is en verkorting zich beperkt tot bovenste ledematen."},"pt":{"name":"Omodisplasia"},"pl":{"name":"Omodysplazja"},"cs":{"name":"Omodysplázie"},"uk":{"name":"Омодисплазія","definition":"Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs."},"zh":{"name":"肩骨发育不良"},"tr":{"name":"Omodisplazi"}},"xrefs":[{"source":"OMIM","code":"164745","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"258315","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.A","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1081897527"},{"source":"MONDO","code":"0017136","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510897","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":[{"orpha":93328,"name":"Autosomal dominant omodysplasia","type":"Clinical subtype"},{"orpha":93329,"name":"Autosomal recessive omodysplasia","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"GPC6","name":"glypican 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19481194[PMID]","hgnc":"4454","ensembl":"ENSG00000183098","omim":"604404","loci":["13q31.3-q32.1"],"via":{"orpha":93329,"name":"Autosomal recessive omodysplasia"}},{"symbol":"FZD2","name":"frizzled class receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25759469[PMID]","hgnc":"4040","ensembl":"ENSG00000180340","omim":"600667","loci":["17q21.31"],"via":{"orpha":93328,"name":"Autosomal dominant omodysplasia"}}],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}