{"orpha":1037,"name":"Arthrogryposis multiplex congenita","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["AMC","Multiple congenital arthrogryposis"],"definition":"A group of disorders characterized by congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1037/","orphanet_url":"https://www.orpha.net/en/disease/detail/1037","names":{"fr":{"name":"Arthrogrypose multiple congénitale","synonyms":["AMC"],"definition":"Groupe de maladies caractérisées par des contractures congénitales des membres se manifestant à la naissance par une limitation de l'amplitude de mouvements de plusieurs articulations des membres, qui est généralement non progressive et peut inclure une faiblesse musculaire et une fibrose. Les contractures sont secondaires à une akinésie foetale à laquelle la maladie est toujours associée."},"de":{"name":"Arthrogryposis multiplex congenita","synonyms":["AMC","Multiple kongenitale Arthrogrypose"],"definition":"Eine Gruppe von Erkrankungen, die durch angeborene Gliedmaßenkontrakturen gekennzeichnet sind, die sich als Bewegungseinschränkung mehrerer Gliedmaßengelenke bei der Geburt manifestieren. Sie sind in der Regel nicht progredient und können mit Muskelschwäche und Fibrose assoziiert sein. Diese Störung ist immer mit einer verminderten intrauterinen fetalen Bewegung verbunden, die sekundär zu den Kontrakturen führt."},"es":{"name":"Artrogriposis múltiple congénita","synonyms":["AMC","Artrogriposis congénita múltiple"],"definition":"Es un grupo de trastornos caracterizados por contracturas congénitas de las extremidades. Se manifiesta al nacimiento como una limitación del movimiento de las articulaciones de varias extremidades que, generalmente, no es progresiva y puede incluir debilidad muscular y fibrosis. La AMC siempre se asocia con una disminución del movimiento fetal intrauterino que deriva, de manera secundaria, en contracturas."},"it":{"name":"Artrogriposi multipla congenita","synonyms":["AMC","Amioplasia congenita","Artromiodisplasia congenita","Miodisplasia"],"definition":"Si tratta di un gruppo di malattie caratterizzate da contratture congenite degli arti, che si manifestano con la limitazione, di solito non progressiva, dei movimenti di diverse articolazioni degli arti; può associarsi a debolezza muscolare e fibrosi. La malattia si associa sempre alla riduzione dei movimenti fetali, che esita nelle contratture."},"nl":{"name":"Arthrogryposis multiplex congenita","synonyms":["AMC","Meervoudige congenitale artrogrypose","Multipele congenitale artrogrypose"],"definition":"Een groep van aandoeningen die gekarakteriseerd worden door congenitale ledemaatcontracturen en die zich manifesteren als niet-progressieve beperking van de beweging van meerdere gewrichten van ledematen bij de geboorte, en mogelijk met spierzwakte en fibrose. Deze aandoening is steeds geassocieerd met verminderde intra-uteriene foetale beweging, wat secundair leidt tot de contracturen."},"pt":{"name":"Artrogripose múltipla congénita","synonyms":["Amioplasia congénita","Miodisplasia"]},"pl":{"name":"Wrodzona wielostawowa artrogrypoza","synonyms":["AMC","Amioplazja wrodzona","Amyoplasia congenita","Arthromyodysplasia congenita","Artromiodysplazja wrodzona","Miodysplazja","Wrodzona sztywność stawów"]},"cs":{"name":"Arthrogryposis multiplex congenita","synonyms":["AMC","Amyoplasia congenita","Vrozená artromyodysplázie","Myodysplázie","Mnohočetná vrozená artrogrypóza","Syndrom mnohočetných kloubních kontraktur"]},"uk":{"name":"Вроджений множинний артрогрипоз","synonyms":["AMC","Множинний вроджений артрогрипоз"],"definition":"A group of disorders characterized by congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures."},"zh":{"name":"先天性多发性关节挛缩","synonyms":["先天性多发性关节挛缩"]},"tr":{"name":"Artrogripozis multipleks konjenita","synonyms":["AMC","Multi doğumsal artrogripozis"]}},"xrefs":[{"source":"ICD-10","code":"Q74.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"MONDO","code":"0015168","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15168","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5779613","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"777","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10051643","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1153,"name":"OBSOLETE: Transient neonatal arthrogryposis","status":"inactive"},{"type":"Referred to","orpha":1155,"name":"OBSOLETE: Arthrogryposis due to muscular dystrophy","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":109007,"name":"Arthrogryposis syndrome","classifications":[147]},{"orpha":723416,"name":"Genetic arthrogryposis syndrome","classifications":[156]}],"children":[{"orpha":2952,"name":"Adducted thumbs-arthrogryposis syndrome, Christian type","type":"Malformation syndrome"},{"orpha":1150,"name":"Arthrogryposis multiplex congenita-whistling face syndrome","type":"Malformation syndrome"},{"orpha":53696,"name":"Arthrogryposis-anterior horn cell disease syndrome","type":"Malformation syndrome"},{"orpha":1485,"name":"Arthrogryposis-hyperkeratosis syndrome, lethal form","type":"Malformation syndrome"},{"orpha":2697,"name":"Arthrogryposis-renal dysfunction-cholestasis syndrome","type":"Malformation syndrome"},{"orpha":319332,"name":"Autosomal recessive myogenic arthrogryposis multiplex congenita","type":"Disease"},{"orpha":664923,"name":"Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome","type":"Malformation syndrome"},{"orpha":210163,"name":"Congenital lethal myopathy, Compton-North type","type":"Disease"},{"orpha":994,"name":"Fetal akinesia deformation sequence","type":"Malformation syndrome"},{"orpha":2680,"name":"Hypomyelination neuropathy-arthrogryposis syndrome","type":"Malformation syndrome"},{"orpha":1145,"name":"Infantile-onset X-linked spinal muscular atrophy","type":"Disease"},{"orpha":610569,"name":"KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome","type":"Disease"},{"orpha":1149,"name":"Kuskokwim syndrome","type":"Malformation syndrome"},{"orpha":439897,"name":"Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome","type":"Malformation syndrome"},{"orpha":498693,"name":"MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome","type":"Disease"},{"orpha":2461,"name":"Marden-Walker syndrome","type":"Malformation syndrome"},{"orpha":2547,"name":"Microphthalmia-microtia-fetal akinesia syndrome","type":"Malformation syndrome"},{"orpha":2215,"name":"Multiple pterygium-malignant hyperthermia syndrome","type":"Malformation syndrome"},{"orpha":1143,"name":"Neurogenic arthrogryposis multiplex congenita","type":"Disease"},{"orpha":611256,"name":"Pontocerebellar hypoplasia type 12","type":"Clinical subtype"},{"orpha":486811,"name":"Prenatal-onset spinal muscular atrophy with congenital bone fractures","type":"Disease"},{"orpha":2460,"name":"Van den Ende-Gupta syndrome","type":"Malformation syndrome"},{"orpha":3454,"name":"Wieacker-Wolff syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable","X-linked recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.7,"area":"Europe","status":"Validated","source":"22005589[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":8.3,"area":"Australia","status":"Validated","source":"9928642[PMID]"},{"type":"Prevalence at birth","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Canada","status":"Not yet validated","source":"21157886[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}