{"orpha":2703,"name":"Port-wine nevi-mega cisterna magna-hydrocephalus syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Nova syndrome"],"definition":"A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2703/","orphanet_url":"https://www.orpha.net/en/disease/detail/2703","names":{"fr":{"name":"Syndrome de Nova","synonyms":["Syndrome de naevus en tache de vin-citerne cérébello-médullaire élargie-hydrocéphalie"],"definition":"Anomalie rare du développement embryonnaire caractérisée par une malformation capillaire au niveau de la glabelle, une hydrocéphalie congénitale communicante et des anomalies cérébrales de la fosse postérieure, dont malformation de Dandy-Walker, agénésie du vermis cérébelleux et méga-cisterna magna. Des convulsions sont parfois associées. Aucun cas n'a été décrit dans la littérature depuis 1979."},"de":{"name":"Portweinnaevus - Megacisterna magna - Hydrozephalus","synonyms":["NOVA-Syndrom"]},"es":{"name":"Síndrome de mancha en vino de Oporto-megacisterna magna-hidrocefalia","synonyms":["Síndrome de Nova"],"definition":"Es un síndrome por defectos del desarrollo embrionario poco frecuente caracterizado por malformación capilar de la glabela, hidrocefalia congénita comunicante y anomalías cerebrales de la fosa posterior, incluyendo la malformación de Dandy-Walker, la agenesia del vermis cerebeloso y la megacisterna magna. Este síndrome asocia convulsiones de forma ocasional. No ha habido más casos descritos en la literatura desde 1979."},"it":{"name":"Sindrome nevo a macchia vino Porto - mega cisterna magna - idrocefalo","synonyms":["Nevo vinoso - mega cisterna magna - idrocefalo","Sindrome di Nova"],"definition":"È un difetto genetico raro dello sviluppo dell'embrione, caratterizzato dalla malformazione dei capillari glabellari, idrocefalo comunicante congenito e anomalie cerebrali della fossa posteriore (malformazione di Dandy-Walker, agenesia del verme cerebellare e mega cisterna magna). Raramente i pazienti presentano crisi epilettiche. Non sono stati descritti nuovi casi dopo il 1979."},"nl":{"name":"Wijnvlekken - mega cisterna magna - hydrocefalus","synonyms":["Novasyndroom"],"definition":"Een zeldzaam syndroom met een ontwikkelingsdefect tijdens de embryogenese dat gekarakteriseerd wordt door een malformatie van capillairen in het gebied van de glabella, congenitale communicerende hydrocefalie, en hersenanomalieën in de achterste schedelgroeve, waaronder malformatie van Dandy-Walker, agenesie van de cerebellaire vermis, en mega cisterna magna. Insulten zijn occasioneel geassocieerd. Sinds 1979 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de nevo vinho do Porto-mega cisterna magna-hidrocefalia","synonyms":["Síndrome Nova"]},"pl":{"name":"Znamię typu winnej plamy- mega cisterna magna - wodogłowie","synonyms":["Zespół Nova"]},"cs":{"name":"Syndrom zahrnující naevus flammeus, zvětšenou cisterna magna a hydrocefalus","synonyms":["Novův syndrom"]},"uk":{"name":"Синдром винного невусу-mega cisterna magna-гідроцефалії","synonyms":["Синдром Нова"],"definition":"A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979."},"zh":{"name":"葡萄酒色痣-巨大枕大池-脑积水综合征","synonyms":["Nova综合征"]},"tr":{"name":"Liman şarabı nevi-mega cisterna magna-hidrosefali sendromu","synonyms":["Nova sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q03.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0100367","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191040","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":730406,"name":"Genetic syndrome with a posterior fossa cystic malformation as a major feature","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":458830,"name":"Rare capillary malformation with associated anomalies","classifications":[147,156,198]},{"orpha":269523,"name":"Syndrome with a cerebellar malformation as a major feature","classifications":[147,181]},{"orpha":729566,"name":"Syndrome with a posterior fossa cystic malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"501430[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_501430[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-06","source":null,"terms":[{"hpo":"HP:0002334","label":"Abnormality of the cerebellar vermis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005306","label":"Capillary hemangioma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100308","label":"Cerebral cortical hemiatrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011427","label":"Enlarged fetal cisterna magna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010733","label":"Naevus flammeus of the eyelid","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012157","label":"Subcortical cerebral atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}