{"orpha":488586,"name":"Congenital amyoplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Amyoplasia congenita"],"definition":"A rare sporadic arthrogryposis syndrome characterized by multiple congenital contractures presenting in a very specific pattern. It is typically symmetric, involving all four limbs, with internally rotated shoulders, fully extended and fixed elbows, the wrists fixed in flexion, partially flexed fingers, hips fixed in flexion or extension, adducted or abducted, and sometimes dislocated. The knees may be fixed in extension or flexion, and the feet are usually in severe equinovarus position. The jaw and trunk are relatively spared. Normal limb muscle tissue is replaced by fatty, fibrous tissue.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-488586/","orphanet_url":"https://www.orpha.net/en/disease/detail/488586","names":{"fr":{"name":"Amyoplasie congénitale","definition":"Syndrome d'arthrogrypose sporadique rare caractérisé par de multiples contractures congénitales se présentant selon un schéma très spécifique. L'atteinte est typiquement symétrique, impliquant les quatre membres, avec une rotation interne des épaules, des coudes en position fixe et en extension complète, des poignets fixes en flexion, des doigts partiellement fléchis, des hanches fixées en flexion ou en extension, en adduction ou en abduction, et parfois disloquées. Les genoux peuvent être fixés en extension ou en flexion, et les pieds sont généralement en position équinovarus marquée. La mâchoire et le tronc sont relativement épargnés. Le tissu musculaire normal des membres est remplacé par un tissu adipeux et fibreux."},"de":{"name":"Amyoplasie, kongenitale","synonyms":["Amyoplasia congenita"],"definition":"Ein seltenes sporadisches Arthrogrypose-Syndrom, das durch multiple angeborene Kontrakturen gekennzeichnet ist, die in einem sehr spezifischen Muster auftreten. Es ist typischerweise symmetrisch und betrifft alle vier Gliedmaßen, mit nach innen gedrehten Schultern, vollständig gestreckten und fixierten Ellbogen, in Beugung fixierten Handgelenken, teilweise gebeugten Fingern, in Beugung oder Streckung fixierten, adduzierten oder abduzierten und manchmal dislozierten Hüften. Die Knie können in Streckung oder Beugung fixiert sein, und die Füße befinden sich in der Regel in einer schweren Equinovarus-Stellung. Der Kiefer und der Rumpf sind relativ unbeeinträchtigt. Das normale Muskelgewebe der Gliedmaßen wird durch fettiges, faseriges Gewebe ersetzt."},"es":{"name":"Amioplasia congénita","definition":"Es un síndrome de artrogriposis esporádica poco frecuente caracterizado por múltiples contracturas congénitas que se presentan siguiendo un patrón muy específico. Es típicamente simétrico y afecta a las cuatro extremidades, con rotación interna de hombros, codos en extensión completa y fijos, muñecas fijas en flexión, dedos parcialmente flexionados, caderas fijas en flexión o extensión, en aducción o en abducción y, en ocasiones, luxadas. Las rodillas pueden estar fijas en extensión o flexión, y los pies suelen estar en equino-varo grave. La mandíbula y el tronco están relativamente preservados. El tejido muscular normal de las extremidades es reemplazado por tejido graso y fibroso."},"it":{"name":"Amioplasia congenita","definition":"Si tratta di un'artrogriposi sporadica rara, caratterizzata da contratture congenite multiple caratteristiche. Di solito è simmetrica e interessa i quattro arti; le spalle sono ruotate verso l'interno, i gomiti sono in completa estensione e fissi, i polsi fissi in flessione, le dita sono parzialmente flesse, le anche sono fisse in flessione o in estensione, addotte o abdotte, e talvolta dislocate. Le ginocchia possono essere fisse in estensione o in flessione, e i piedi di solito sono gravemente deformati in equino-varismo. La mascella e il tronco sono relativamente risparmiati. Il tessuto muscolare degli arti è sostituito da tessuto grasso e fibroso."},"nl":{"name":"Congenitale amyoplasie","synonyms":["Amyoplasia congenita"],"definition":"Een zeldzaam sporadisch syndroom van artrogrypose, gekarakteriseerd door multipele congenitale contracturen die zich volgens een zeer specifiek patroon presenteren. Dit gebeurt doorgaans symmetrisch, met betrokkenheid van alle vier de ledematen, met naar binnen geroteerde schouders, gefixeerde volledige extensie van ellebogen, polsen gefixeerd in flexie, partiële flexie van vingers, heupen gefixeerd in flexie of extensie, met adductie of abductie en soms luxatie. Knieën kunnen gefixeerd zijn in extensie of flexie, en voeten vertonen meestal ernstige equinovarusdeformiteit. Kaak en romp blijven relatief gespaard. Normaal spierweefsel van ledematen is vervangen door fibreus vetweefsel."},"pt":{"name":"Amioplasia congénita"},"pl":{"name":"Amioplazja wrodzona","synonyms":["Wrodzona amioplazja"]},"cs":{"name":"Vrozená amyoplázie","synonyms":["Amyoplasia congenita"]},"uk":{"name":"Вроджена аміоплазія","synonyms":["Вроджена аміоплазія"],"definition":"A rare sporadic arthrogryposis syndrome characterized by multiple congenital contractures presenting in a very specific pattern. It is typically symmetric, involving all four limbs, with internally rotated shoulders, fully extended and fixed elbows, the wrists fixed in flexion, partially flexed fingers, hips fixed in flexion or extension, adducted or abducted, and sometimes dislocated. The knees may be fixed in extension or flexion, and the feet are usually in severe equinovarus position. The jaw and trunk are relatively spared. Normal limb muscle tissue is replaced by fatty, fibrous tissue."},"zh":{"name":"先天性肌肉发育不良","synonyms":["先天性肌肉发育不全"]},"tr":{"name":"Doğumsal amilazi","synonyms":["Doğumsal amyoplasia"]}},"xrefs":[{"source":"ICD-10","code":"Q68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.41","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1930990330"},{"source":"MONDO","code":"0044629","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0812412","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":109007,"name":"Arthrogryposis syndrome","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}