{"orpha":221126,"name":"Fowler vasculopathy","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cerebral proliferative glomeruloid vasculopathy","Encephaloclastic proliferative vasculopathy","Hydrocephaly/hydranencephaly due to cerebral vasculopathy","Proliferative vasculopathy and hydranencephaly/hydrocephaly"],"definition":"A rare, genetic neurological disorder characterized by hydranencephaly, distinctive glomeruloid vasculopathy in the central nervous system and retina, polyhydramnios and fetal akinesia with arthrogryposis. The disorder is usually prenatally lethal. In rare reported cases that survived beyond infancy, severe intellectual and neurologic disability with seizures, microcephaly and absence of functional movements were reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-221126/","orphanet_url":"https://www.orpha.net/en/disease/detail/221126","names":{"fr":{"name":"Vasculopathie de Fowler","synonyms":["Hydrocéphalie/hydranencéphalie due à une vasculopathie cérébrale","Vasculopathie gloméruloïde proliférative cérébrale","Vasculopathie proliférative et hydranencéphalie/hydrocéphalie"],"definition":"Maladie neurologique génétique rare caractérisée par une hydranencéphalie, une vasculopathie gloméruloïde distincte distinctive du système nerveux central et de la rétine, un polyhydramnios et une akinésie foetale avec arthrogrypose. La maladie est généralement létale pendant la période prénatale. Dans de rares cas rapportés de survie au-delà de la petite enfance, une déficience intellectuelle et un retard du développement neurologique sévères accompagnés de crises d'épilepsie, d'une microcéphalie et d'une absence de mouvements fonctionnels ont été rapportés."},"de":{"name":"Fowler-Vaskulopathie","synonyms":["Fowler-Syndrom","Hydrozephalie/Hydranenzephalie durch zerebrale Vaskulopathie","Proliferative Vaskulopathie und Hydranenzephalie/Hydrozephalie","Vaskulopathie, enzephaloklastische proliferative","Zerebrale Vaskulopathie, glomeruloide proliferative"],"definition":"Eine seltene, genetisch bedingte neurologische Störung, die durch Hydranenzephalie, eine ausgeprägte glomeruloide Vaskulopathie im Zentralnervensystem und in der Netzhaut, Polyhydramnion und fetale Akinesie mit Arthrogryposis gekennzeichnet ist. Die Störung verläuft in der Regel pränatal tödlich. In seltenen Fällen, die über das Säuglingsalter hinaus überlebt haben, wurden schwere intellektuelle und neurologische Beeinträchtigungen mit Krampfanfällen, Mikrozephalie und fehlenden funktionellen Bewegungen berichtet."},"es":{"name":"Vasculopatía de Fowler","synonyms":["Hidrocefalia/hidranencefalia por vasculopatía cerebral","Síndrome de Fowler","Vasculopatía cerebral glomeruloide proliferativa","Vasculopatía encefaloclástica proliferativa","Vasculopatía proliferativa e hidrocefalia/hidranencefalia"],"definition":"Es un trastorno neurológico, de origen genético y poco frecuente, caracterizado por hidranencefalia, vasculopatía glomeruloide distintiva en el sistema nervioso central y la retina, polihidramnios y acinesia fetal con artrogriposis. El trastorno suele ser letal en el periodo prenatal. En los casos excepcionales de supervivencia más allá del periodo de lactancia, se ha descrito grave discapacidad intelectual y neurológica con crisis comiciales, microcefalia y ausencia de movimientos funcionales."},"it":{"name":"Sindrome di Fowler","synonyms":["Vasculopatia encefaloclastica proliferativa","Vasculopatia glomeruloide proliferativa cerebrale","Vasculopatia proliferativa e idranencefalia/idrocefalo","Idrocefalo/idranencefalia da vasculopatia cerebrale"],"definition":"È una malattia neurologica genetica rara, caratterizzata da idranencefalia, vasculopatia glomeruloide che interessa tipicamente il sistema nervoso centrale e la retina, polidramnios e acinesia fetale con artrogriposi. Di solito la malattia causa la morte del feto. I rari pazienti sopravvissuti oltre la prima infanzia presentano grave disabilità intellettiva e neurologica, crisi epilettiche, microcefalia e assenza dei movimenti funzionali."},"nl":{"name":"Vasculopathie van Fowler","synonyms":["Cerebrale proliferatieve glomeruloïde vasculopathie","Encefaloclastische proliferatieve vasculopathie","Hydrocefalie/hydranencefalie als gevolg van cerebrale vasculopathie","Proliferatieve vasculopathie en hydranencefalie/hydrocefalie"],"definition":"Een zeldzame, genetische neurologische stoornis gekarakteriseerd door hydranencefalie, typische glomeruloïde vasculopathie in het centrale zenuwstelsel en het netvlies, polyhydramnion, en foetale akinesie met artrogrypose. De stoornis is meestal prenataal letaal. In zeldzame gerapporteerde gevallen die de zuigelingentijd overleefden, werden ernstige intellectuele en neurologische beperkingen met insulten, microcefalie en afwezigheid van functionele bewegingen vastgesteld."},"pt":{"name":"Síndrome de Fowler"},"pl":{"name":"Zespół Fowlera","synonyms":["Encefaloklastyczna waskulopatia proliferacyjna","Proliferacyjna waskulopatia kłębuszkowa mózgu","Waskulopatia proliferacyjna i hydrocefalia/hydranencefalia","Wodogłowie/hydranencefalia z powodu waskulopatii mózgowej"]},"cs":{"name":"Fowlerův syndrom","synonyms":["Cerebrální proliferativní glomeruloidní vaskulopatie","Encefaloklastická proliferativní vaskulopatie","Proliferativní vaskulopatie a hydrocefalus/hydroanencefalie","Hydrocefalus/hydranencefalie způsobená mozkovou vaskulopatií"]},"uk":{"name":"Васкулопатія Фаулера","synonyms":["Церебральна проліферативна гломерулоїдна васкулопатія","Енцефалокластична проліферативна васкулопатія","Гідроцефалія/гідранцефалія внаслідок церебральної васкулопатії","Проліферативна васкулопатія та гідраненцефалія/гідроцефалія"],"definition":"A rare, genetic neurological disorder characterized by hydranencephaly, distinctive glomeruloid vasculopathy in the central nervous system and retina, polyhydramnios and fetal akinesia with arthrogryposis. The disorder is usually prenatally lethal. In rare reported cases that survived beyond infancy, severe intellectual and neurologic disability with seizures, microcephaly and absence of functional movements were reported."},"zh":{"name":"Fowler血管病","synonyms":["增生性血管病和脑积水/脑发育不全性脑积水"],"definition":"一种罕见的遗传性神经系统疾病，特征为积水性无脑畸形，中枢神经系统和视网膜有明显的增生性血管病，羊水过多和胎儿运动障碍伴关节炎。这种疾病通常是产前致命的。在极少数报道的存活超过婴儿期的病例中，报道了严重的智力和神经功能障碍，伴有癫痫、小头畸形和功能性运动缺失。"},"tr":{"name":"Fowler vaskülopati","synonyms":["Ensefaloklastik proliferatif vaskülopati","Serebral proliferatif glomeruloid vaskülopati","Serebral vaskülopatiye bağlı hidrosefali / hidranensefali","Proliferatif vaskülopati ve hidranensefali / hidrosefali"]}},"xrefs":[{"source":"OMIM","code":"225790","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C1856972","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":269564,"name":"Genetic syndrome with a central nervous system malformation as a major feature","classifications":[156]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"FLVCR2","name":"FLVCR choline and putative heme transporter 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20206334[PMID]","hgnc":"20105","ensembl":"ENSG00000119686","omim":"610865","loci":["14q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":44.0,"area":"Worldwide","status":"Validated","source":"25677735[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25677735[PMID]"}],"phenotypes":null}