{"orpha":65720,"name":"Arthrogryposis-severe scoliosis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal arthrogryposis type 4","Distal arthrogryposis type IID"],"definition":"A rare distal arthrogryposis characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-65720/","orphanet_url":"https://www.orpha.net/en/disease/detail/65720","names":{"fr":{"name":"Syndrome d'arthrogrypose-scoliose sévère","synonyms":["Arthrogrypose distale type 4","Arthrogrypose distale type IID"],"definition":"Arthrogrypose distale rare caractérisée par de multiples contractures congénitales des membres, en l'absence de maladie neurologique et/ou musculaire primaire affectant la fonction des membres, et une scoliose légère à sévère. L'intelligence n'est pas affectée."},"de":{"name":"Arthrogrypose-schwere Skoliose-Syndrom","synonyms":["Arthrogrypose, distale, Typ 2D","Arthrogrypose, distale, Typ 4","Arthrogrypose, distale, Typ IID"],"definition":"Eine seltene Form der distalen Arthrogryposis, die durch multiple, angeborene Kontrakturen der Gliedmaßen ohne primäre neurologische und/oder muskuläre Erkrankungen, welche die Funktion der Gliedmaßen beeinträchtigen, sowie eine leichte bis schwere Skoliose gekennzeichnet ist. Die Intelligenz ist normal."},"es":{"name":"Síndrome de artrogriposis-escoliosis grave","synonyms":["Artrogriposis distal tipo 4","Artrogriposis distal tipo IID"],"definition":"Es una antrogriposis distal poco frecuente caracterizada por contracturas congénitas múltiples de los miembros, sin enfermedades neurológicas y/o musculares primarias que afecten a la función de los miembros, y una escoliosis de leve a grave. El desarrollo intelectual es normal."},"it":{"name":"Artrogriposi - scoliosi grave","synonyms":["Artrogriposi distale, tipo 4","Artrogriposi distale, tipo IID"],"definition":"L'artrogriposi distale tipo 4 è una sindrome ereditaria da disturbo dello sviluppo caratterizzata da contratture congenite multiple degli arti, in assenza di una malattia muscolare e/o neurologica primitiva, che interessa la funzionalità degli arti, e si associa a scoliosi lieve-grave. L'intelligenza è normale."},"nl":{"name":"Artrogrypose - ernstige scoliose-syndroom","synonyms":["Distale artrogrypose type 4","Distale artrogrypose type IID"],"definition":"Een zeldzame distale artrogrypose, gekenmerkt door multipele congenitale contracturen van ledematen, zonder primaire neurologische ziekte en/of spierziekte die de functie van ledematen beïnvloedt, en door milde tot ernstige scoliose. Intelligentie is normaal."},"pt":{"name":"Síndrome de artrogripose-escoliose grave","synonyms":["Artrogripose distal tipo 4","Artrogripose distal tipo IID"]},"pl":{"name":"Artrogrypoza - ciężka skolioza","synonyms":["Artrogrypoza dystalna typu 4","Artrogrypoza dystalna typu IID"]},"cs":{"name":"Syndrom zahrnující artrogrypózu a těžkou skoliózu","synonyms":["Distální artrogrypóza, typ 4","Distální artrogrypóza, typ IID"]},"uk":{"name":"Синдром артрогрипозу-важкого сколіозу","synonyms":["Дистальний артрогрипоз, тип 4","Дистальний артрогрипоз типу IID"],"definition":"Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal."},"zh":{"name":"关节挛缩-重度脊髓侧凸综合征","synonyms":["远端关节挛缩IID型"]},"tr":{"name":"Artrogripozis-ağır skolyoz sendromu","synonyms":["Distal artrogripozis tip 4","Distal artrogripozis tip IID"]}},"xrefs":[{"source":"OMIM","code":"609128","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.4Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1419377474"},{"source":"MONDO","code":"0012195","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563791","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836756","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":97120,"name":"Distal arthrogryposis","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"3565478[PMID]_7039311[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3565478[PMID]_7039311[PMID]"}],"phenotypes":null}