{"orpha":439897,"name":"Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-439897/","orphanet_url":"https://www.orpha.net/en/disease/detail/439897","names":{"fr":{"name":"Syndrome létal foetal d'agénésie/hypoplasie cérébro-réno-génito-urinaire","definition":"Un syndrome malformatif génétique rare, lié à une anomalie du développement pendant l'embryogenèse. Il se caractérise par un retard de croissance intra-utérin, une arthrogrypose en flexion affectant toutes les articulations, une microcéphalie sévère, une dysplasie/agénésie/hypoplasie rénale kystique, ainsi que des malformations complexes cérébrales (hypoplasie cérébrale et cérébelleuse, agénésie du vermis, du corps calleux et/ou du lobe occipital, avec ou sans arhinencéphalie), et génito-urinaires (agénésie/hypoplasie urétérale, hypoplasie utérine et/ou atrésie vaginale), conduisant au décès du foetus."},"de":{"name":"Letales fetales zerebro-reno-urogenitales Agenesie/Hypoplasie-Syndrom","definition":"Ein seltener, genetischer Entwicklungsdefekt während der Embryogenese, der gekennzeichnet ist durch intrauterine Wachstumsrestriktion, Flexionsarthrogrypose aller Gelenke, schwere Mikrozephalie, zystische Nierendysplasie/-agenesie/-hypoplasie und komplexe Fehlbildungen des Gehirns (zerebrale und zerebelläre Hypoplasie, Agenesie des Vermis, Corpus callosum- und/oder Okzipitallappenagenesie, mit oder ohne Arhinenzephalie) sowie Anomalien des Urogenitaltraktes (Ureteralagenesie/Hypoplasie, Uterushypoplasie und/oder Vaginalatresie), die zum fetalen Absterben führen."},"es":{"name":"Síndrome de agenesia/hipoplasia cerebrorrenogenitourinaria fetal letal","definition":"El síndrome de agenesia/hipoplasia cerebro-reno-genitourinaria fetal letal es un síndrome genético, poco frecuente, de anomalías del desarrollo durante la embriogénesis, caracterizado por restricción de crecimiento intrauterino, artrogriposis de flexión en todas las articulaciones, microcefalia severa, hipoplasia /agenesia /displasia renal quística y malformaciones complejas del cerebro (hipoplasia cerebral y cerebelosa, agenesia de vermis, cuerpo calloso y/o del lóbulo occipital, con o sin holoprosencefalia), así como del tracto genitourinario (agenesia/hipoplasia ureteral, hipoplasia uterina y/o atresia vaginal), lo que conduce a muerte fetal."},"it":{"name":"Sindrome fetale letale da agenesia/ipoplasia cerebro-reno-urogenitale","definition":"La sindrome letale nel feto che associa agenesia/ipoplasia cerebro-reno-urogenitale è una malattia malformativa rara, di origine genetica causata da un difetto di sviluppo dell'embrione. È caratterizzata da ritardo della crescita prenatale, artrogriposi multipla in flessione, microcefalia grave, displasia/agenesia/ipoplasia cistica renale, malformazioni cerebrali complesse (ipoplasia cerebrale e cerebellare, agenesia del verme, del corpo calloso e/o del lobo occipitale, con o senza arinencefalia), malformazioni dell'apparato genito-urinario (agenesia/ipoplasia dell'uretere, ipoplasia dell'utero e/o atresia vaginale), che causano la morte del feto."},"nl":{"name":"Letale foetale cerebrale-renale-urogenitale agenesie/hypoplasie-syndroom","definition":"Letale foetale cerebro-renale-urogenitale agenesie/hypoplasie-syndroom is een zeldzaam, genetisch malformatiesyndroom met een ontwikkelingsdefect tijdens de embryogenese, en wordt gekarakteriseerd door intra-uteriene groeirestrictie, artrogrypose in flexie van alle gewrichten, ernstige microcefalie, renale cystische dysplasie/agenesie/hypoplasie en complexe malformaties van de hersenen (cerebrale en cerebellaire hypoplasie, agenesie van de vermis, het corpus callosum en/of occipitale kwab, met of zonder arhinencefalie), alsook van het urogenitaal stelsel (agenesie/hypoplasie van de ureter, uteriene hypoplasie en/of vaginale atresie), met foetaal overlijden tot gevolg."},"pt":{"name":"Síndrome fetal cerebral fatal – renal - hipoplasia / agenesia geniturinária"},"pl":{"name":"Śmiertelny zespół agnezji lub hipoplazji mózgowo-nerkowo-płciowo-moczowej płodu"},"cs":{"name":"Syndrom fetálně letální cerebrorenogenitourinární ageneze/hypoplázie"},"uk":{"name":"Летальний внутрішньоутробний синдром цереброреногенітоуринарної агенезії/гіпоплазії плода","definition":"Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise."},"zh":{"name":"致命性胎儿脑肾泌尿生殖道发育不全/发育不全综合征","definition":"致死性胎儿脑肾泌尿生殖器发育不全/发育不全综合征是一种罕见的遗传发育缺陷，在胚胎发育期发生畸形综合征中表现为宫内生长受限，所有屈曲性关节有增生，严重的小头畸形，肾囊性发育不良/发育不全和复杂的脑畸形（大脑发育不全，小脑发育不全，小脑蚓部、胼胝体或枕叶发育不全，伴或不伴有无嗅脑畸形）以及泌尿生殖道畸形（输尿管发育不全，子宫发育不全和/或阴道闭锁），可导致胎儿死亡。"},"tr":{"name":"Letal fetal serebrorenogenitoüriner agenezi/hipoplazi sendromu"}},"xrefs":[{"source":"OMIM","code":"616258","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014552","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4015701","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]},{"orpha":269567,"name":"Genetic syndrome with a cerebellar malformation as a major feature","classifications":[156]},{"orpha":156162,"name":"Renal ciliopathy","classifications":[156]},{"orpha":269523,"name":"Syndrome with a cerebellar malformation as a major feature","classifications":[147,181]},{"orpha":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]}],"children":[],"genes":[{"symbol":"KIF14","name":"kinesin family member 14","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24128419[PMID]","hgnc":"19181","ensembl":"ENSG00000118193","omim":"611279","loci":["1q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"24128419[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24128419[PMID]"}],"phenotypes":null}