{"orpha":294965,"name":"Lethal congenital contracture syndrome","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["LCCS"],"definition":"A group of rare arthrogryposis syndromes characterized by fetal akinesia, multiple congenital contractures, anterior horn cell degeneration, skeletal muscle atrophy, and other features, depending on the subtype. All types are lethal in the fetal or neonatal period.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-294965/","orphanet_url":"https://www.orpha.net/en/disease/detail/294965","names":{"fr":{"name":"Syndrome des contractures congénitales létales","synonyms":["LCCS"],"definition":"Groupe de syndromes d'arthrogrypose rares caractérisés par une akinésie foetale, des contractures congénitales multiples, une dégénérescence des cellules de la corne antérieure, une atrophie musculaire affectant les squelettiques et par d'autres caractéristiques, selon le sous-type. Tous les types sont létaux pendant la période foetale ou néonatale."},"de":{"name":"Syndrom der kongenitalen letalen Kontrakturen","synonyms":["LCCS"],"definition":"Eine Gruppe seltener Arthrogryposis-Syndrome, die je nach Subtyp durch fetale Akinesie, multiple angeborene Kontrakturen, Vorderhornzellendegeneration, Skelettmuskelatrophie und andere Merkmale gekennzeichnet sind. Alle Typen sind in der fetalen oder neonatalen Phase tödlich."},"es":{"name":"Síndrome de contractura congénita letal","synonyms":["LCCS"],"definition":"Es un grupo poco frecuente de síndromes de artrogriposis caracterizado por acinesia fetal, múltiples contracturas congénitas, degeneración de las células del cuerno anterior, atrofia del músculo esquelético y otros rasgos, en función del subtipo. Todos los tipos son letales en el periodo fetal o neonatal."},"it":{"name":"Sindrome da contratture congenite letali","synonyms":["LCCS"],"definition":"Si tratta di un gruppo di artrogriposi rare, caratterizzate da acinesia fetale, contratture congenite multiple, degenerazione delle cellule delle corna anteriori, atrofia dei muscoli scheletrici e altri segni clinici, a seconda del sottotipo. Tutti i tipi sono letali nel periodo prenatale o neonatale."},"nl":{"name":"Letale congenitale contracturen-syndroom","synonyms":["LCCS"],"definition":"Een groep van zeldzame syndromen van artrogrypose, gekenmerkt door foetale akinesie, multipele congenitale contracturen, degeneratie van cellen van voorhoorn, atrofie van skeletspier, en andere kenmerken afhankelijk van het subtype. Alle types zijn letaal in de foetale of neonatale periode."},"pt":{"name":"Síndrome de contratura congénita letal"},"pl":{"name":"Śmiertelny zespół wrodzonych przykurczów","synonyms":["LCCS"]},"cs":{"name":"Letální syndrom vrozených kontraktur","synonyms":["LCCS"]},"uk":{"name":"Летальний синдром вродженої контрактури","synonyms":["LCCS"],"definition":"A group of rare arthrogryposis syndromes characterized by fetal akinesia, multiple congenital contractures, anterior horn cell degeneration, skeletal muscle atrophy, and other features, depending on the subtype. All types are lethal in the fetal or neonatal period."},"zh":{"name":"致死性先天性挛缩综合征","synonyms":["致死性先天性挛缩综合征"]},"tr":{"name":"Letal doğumsal kontraktür sendromu","synonyms":["LCCS"]}},"xrefs":[{"source":"MONDO","code":"0017436","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17436","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5848326","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12643","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]},{"orpha":723416,"name":"Genetic arthrogryposis syndrome","classifications":[156]}],"children":[{"orpha":1486,"name":"Lethal congenital contracture syndrome type 1","type":"Malformation syndrome"},{"orpha":137776,"name":"Lethal congenital contracture syndrome type 2","type":"Malformation syndrome"},{"orpha":137783,"name":"Lethal congenital contracture syndrome type 3","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}