{"orpha":363409,"name":"Fetal akinesia-cerebral and retinal hemorrhage syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["LCCS5","Lethal congenital contracture syndrome type 5"],"definition":"Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363409/","orphanet_url":"https://www.orpha.net/en/disease/detail/363409","names":{"fr":{"name":"Syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes","synonyms":["LCCS5","Syndrome des contractures congénitales létales type 5"],"definition":"Le syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes est un syndrome congénital myopathique rare et létal, caractérisé par des mouvements foetaux et un polyhydramnios <i>in utero</i>, ainsi qu'une akinésie, une sévère hypotonie avec insuffisance respiratoire, une absence de réflexes, des contractures articulaires, des anomalies squelettiques avec des côtes et des os fins, des hémorragies intracrâniennes et rétiniennes, et un faible poids à la naissance du nouveau-né."},"de":{"name":"Fetale Akinesie-zerebrale und retinale Blutungen-Syndrom","synonyms":["LCCS5","Syndrom der lethalen kongenitalen Kontrakturen Typ 5"],"definition":"Das Syndrom der fetalen Akinesie mit zerebralen und retinalen Blutungen ist ein seltenes, tödliches, kongenitales Myopathie-Syndrom, das durch verminderte fetale Bewegungen und Polyhydraminos <i>in utero</i> und das Vorhandensein von Akinesie, schwerer Hypotonie mit respiratorischer Insuffizienz, fehlenden Reflexen, Gelenkkontrakturen, Skelettanomalien mit dünnen Rippen und Knochen, intrakraniellen und retinalen Blutungen und vermindertem Geburtsgewicht beim Neugeborenen gekennzeichnet ist."},"es":{"name":"Síndrome de acinesia fetal-hemorragias cerebrales y retinianas","synonyms":["LCCS5","Síndrome de contractura congénita letal tipo 5"],"definition":"El síndrome de acinesia fetal-hemorragias cerebrales y retinianas es un síndrome de miopatía congénita letal y poco frecuente que se caracteriza por una disminución de los movimientos fetales y polihidramnios en el útero y la presencia en el neonato de acinesia, hipotonía severa con insuficiencia respiratoria, reflejos ausentes, contracturas articulares, anomalías esqueléticas con costillas y huesos delgados, hemorragias intracraneales y retinianas y bajo peso al nacer."},"it":{"name":"Sindrome acinesia fetale-emorragia cerebrale e retinica","definition":"L'acinesia fetale associata ad emorragia cerebrale e retinica è una miopatia congenita rara e letale, caratterizzata da una riduzione dei movimenti del feto e polidramnios, acinesia, ipotonia grave con insufficienza respiratoria, assenza dei riflessi, contratture articolari, anomalie scheletriche con costole e ossa sottili, emorragie intracraniche e retiniche e scarso peso alla nascita."},"nl":{"name":"Foetale akinesie - cerebrale en retinale hemorragie-syndroom","synonyms":["LCCS5","Letale congenitale contracturen-syndroom type 5"],"definition":"Foetale akinesie - cerebrale en retinale hemorragie-syndroom is een zeldzaam, letaal, congenitaal myopathiesyndroom dat gekarakteriseerd wordt door een afname van de foetale bewegingen en polyhydramnion in utero en de aanwezigheid van akinesie, ernstige hypotonie met respiratoire insufficiëntie, afwezige reflexen, gewrichtscontracturen, skeletale afwijkingen met dunne ribben en botten, intracraniële en retinale bloedingen en een laag geboortegewicht bij neonaten."},"pt":{"name":"Síndrome com acinésia fetal – hemorragia cerebral e retiniana"},"pl":{"name":"Zespół akinezja płodu-krwotok do mózgu i siatkówki","synonyms":["LCCS5","Lethal congenital contracture syndrome type 5"]},"cs":{"name":"Syndrom zahrnující fetální akinezi a krvácení do mozku a do sítnice","synonyms":["LCCS5","Lethal congenital contracture syndrome type 5"]},"uk":{"name":"Синдром акінезії плода-крововиливів в мозок та сітківку","synonyms":["LCCS5","Летальний синдром вродженої контрактури типу 5"],"definition":"Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate."},"zh":{"name":"胎儿运动迟缓性脑和视网膜出血综合征","synonyms":["致死性先天挛缩综合征5型"],"definition":"胎儿失能-大脑和视网膜出血综合征是一种罕见的、致命的先天性肌病综合征，其特征是胎儿运动减少和子宫内多氨基物质增多，出现失能、伴有呼吸功能不全的严重肌张力低下、反射缺失、关节挛缩、肋骨和骨骼变薄的骨骼异常、颅内和视网膜出血以及新生儿出生体重下降。"},"tr":{"name":"Fetal akinezi-serebral ve retina hemoraji sendromu","synonyms":["LCCS5","Letal doğumsal kontraktür sendromu tip 5"]}},"xrefs":[{"source":"OMIM","code":"615368","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014149","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706410","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":97245,"name":"Congenital myopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DNM2","name":"dynamin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23092955[PMID]","hgnc":"2974","ensembl":"ENSG00000079805","omim":"602378","loci":["19p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"23092955[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}