{"orpha":498693,"name":"MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MYBPC1-related autosomal recessive non-lethal AMC syndrome"],"definition":"A rare arthrogryposis syndrome characterized by arthrogryposis multiplex congenita with contractures involving multiple joints of the upper and lower limbs, camptodactyly of fingers and toes, skeletal abnormalities such as scoliosis and <i>pectus excavatum</i>, as well as variable speech and motor delay and hypotonia. Facial dysmorphism includes long eyelashes, periorbital fullness, ptosis, epicanthal folds, high arched/cleft palate, and micrognathia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-498693/","orphanet_url":"https://www.orpha.net/en/disease/detail/498693","names":{"fr":{"name":"Syndrome d'arthrogrypose multiple congénitale non létal autosomique récessive associé à MYBPC1","synonyms":["Syndrome d'AMC non létal autosomique récessive associé à MYBPC1"],"definition":"Syndrome d'arthrogrypose rare caractérisé par une arthrogrypose multiple congénitale avec des contractures touchant de multiples articulations des membres supérieurs et inférieurs, une camptodactylie des doigts et des orteils, des anomalies squelettiques telles qu'une scoliose et un pectus excavatum, ainsi qu'un retard moteur et un retard de langage de degré variable et une hypotonie. Une dysmorphie faciale à type de cils longs, d'oedème palpébral, de ptosis, d'épicanthus, de palais ogival/fente palatine et de micrognathie est observée."},"de":{"name":"Arthrogryposis multiplex congenita-Syndrom, autosomal-rezessives, nicht-letales, MYBPC1-assoziiertes","synonyms":["MYBPC1-assoziiertes autosomal-rezessives nicht-letales AMC-Syndrom"],"definition":"Ein seltenes Arthrogrypose-Syndrom, das durch Arthrogryposis multiplex congenita mit Kontrakturen an mehreren Gelenken der oberen und unteren Gliedmaßen, Kamptodaktylie der Finger und Zehen, Skelettanomalien wie Skoliose und Pectus excavatum sowie variable Sprach- und motorische Verzögerungen und Hypotonie gekennzeichnet ist. Zu den Gesichtsdysmorphien gehören lange Wimpern, periorbitale Fülle, Ptosis, Epikanthusfalten, hochgewölbter Gaumen/Gaumenspalte und Mikrognathie."},"es":{"name":"Síndrome de artrogriposis múltiple congénita no letal autosómica recesiva asociada a MYBPC1","synonyms":["Síndrome de AMC no letal autosómica recesiva asociada a MYBPC1"],"definition":"Es un síndrome de artrogriposis poco frecuente caracterizado por artrogriposis múltiple congénita con contracturas que afectan a múltiples articulaciones tanto de las extremidades superiores como de las inferiores, camptodactilia de los dedos de las manos y de los pies, anomalías esqueléticas tales como escoliosis y <i>pectus excavatum</i>, así como un retraso motor y del habla de grado variable e hipotonía. La dismorfia facial incluye pestañas largas, plenitud periorbitaria, ptosis, pliegues epicánticos, paladar hendido/ojival y micrognatia."},"it":{"name":"Artrogriposi multipla congenita non letale autosomica recessiva correlata a MYBPC1","definition":"Si tratta di un'artrogriposi rara, caratterizzata da artrogriposi multipla congenita associata a contratture che interessano diverse articolazioni degli arti superiori e inferiori, camptodattilia delle mani e dei piedi, anomalie scheletriche (scoliosi e pectus excavatum), ritardo motorio e del linguaggio di gravità variabile, e ipotonia. I dismorfismi facciali comprendono l'allungamento delle ciglia, la pienezza periorbitale, la ptosi, l'epicanto, il palato ogivale e la palatoschisi, e la micrognazia."},"nl":{"name":"MYBPC1-gerelateerd autosomaal recessief niet-letaal arthrogryposis multiplex congenita-syndroom","synonyms":["MYBPC1-gerelateerd autosomaal recessief niet-letaal AMC-syndroom"],"definition":"Een zeldzaam syndroom van artrogrypose, gekarakteriseerd door arthrogryposis multiplex congenita met contracturen van meerdere gewrichten van bovenste en onderste ledematen, camptodactylie van vingers en tenen, skeletafwijkingen zoals scoliose en trechterborst, alsook variabele spraakachterstand, motorische achterstand en hypotonie. Faciale dysmorfie omvat onder meer lange wimpers, periorbitale volheid, ptosis, epicanthusplooien, hoog gebogen/gespleten verhemelte, en micrognathie."},"pt":{"name":"Síndrome de artrogripose múltipla congénita não letal autossómica recessiva MYBPC1-relacionada"},"pl":{"name":"Zespół nie-letalnej autosomalnej recesywnej mnogiej artrogrypozy wrodzonej związanej z MYBPC1","synonyms":["MYBPC1-related autosomal recessive non-lethal AMC syndrome"]},"cs":{"name":"MYBPC1-vázaná autozomálně recesivní neletální arthrogryposis multiplex congenita","synonyms":["MYBPC1-related autosomal recessive non-lethal AMC syndrome","Autozomálně recesivní neletální syndrom AMC související s MYBPC1"]},"uk":{"name":"Повязаний з MYBPC1 аутосомно-рецесивний нелетальний синдром вродженого множинного артрогрипозу","synonyms":["Повязаний з MYBPC1 аутосомно-рецесивний нелетальний АМС-синдром"],"definition":"A rare arthrogryposis syndrome characterized by arthrogryposis multiplex congenita with contractures involving multiple joints of the upper and lower limbs, camptodactyly of fingers and toes, skeletal abnormalities such as scoliosis and <i>pectus excavatum</i>, as well as variable speech and motor delay and hypotonia. Facial dysmorphism includes long eyelashes, periorbital fullness, ptosis, epicanthal folds, high arched/cleft palate, and micrognathia."},"zh":{"name":"MYBPC1相关的常染色体隐性非致死性多发性先天性关节病综合征","synonyms":["MYBPC1-related autosomal recessive non-lethal AMC syndrome"]},"tr":{"name":"MYBPC1 ile ilgili otozomal resesif non-letal artrogripozis multipleks konjenita sendromu","synonyms":["MYBPC1 ile ilişkili otozomal resesif letal olmayan AMC sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q74.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044682","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680092","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1037,"name":"Arthrogryposis multiplex congenita","classifications":[147,156]}],"children":[],"genes":[{"symbol":"MYBPC1","name":"myosin binding protein C1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26661508[PMID]","hgnc":"7549","ensembl":"ENSG00000196091","omim":"160794","loci":["12q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"26661508[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26661508[PMID]"}],"phenotypes":null}