{"orpha":1397,"name":"Hydrocephaly-cerebellar agenesis syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth. The condition is fatal in the neonatal period. There have been no further descriptions in the literature since 1978.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1397/","orphanet_url":"https://www.orpha.net/en/disease/detail/1397","names":{"fr":{"name":"Syndrome d'aplasie du cervelet-hydrocéphalie","definition":"Anomalie rare du développement embryonnaire caractérisée par une hydrocéphalie congénitale non communicante, une agénésie cérébelleuse et l'absence des foramens de Luschka et de Magendie. Les patients présentent une hypotonie, une aréflexie ou une hyporéflexie, ainsi que des convulsions et/ou une cyanose peu après la naissance. Le syndrome est létal en période néonatale. Aucun cas n'a été décrit dans la littérature depuis 1978."},"de":{"name":"Hydrozephalus-Kleinhirn-Agenesie-Syndrom","definition":"Ein seltener syndromaler Entwicklungsdefekt während der Embryogenese, der durch einen kongenitalen, nicht kommunizierenden Hydrozephalus, Kleinhirnagenesie und Fehlen der Foramina Luschka und Magendie gekennzeichnet ist. Die Patienten präsentieren sich kurz nach der Geburt mit Hypotonie, Areflexie oder Hyporeflexie, Krampfanfällen und/oder Zyanose. Das Syndrom verläuft in der Neugeborenenperiode tödlich. Seit 1978 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de hidrocefalia-agenesia cerebelosa","definition":"Es un síndrome malformativo poco frecuente por defectos del desarrollo embrionario caracterizado por hidrocefalia congénita no comunicante, agenesia cerebelosa y ausencia de los forámenes de Luschka y Magendie. Los pacientes se presentan con hipotonía, arreflexia o hiporreflexia, crisis epilépticas y/o cianosis poco después del nacimiento, siendo letal en el período neonatal. No ha habido más casos descritos en la literatura desde 1978."},"it":{"name":"Sindrome da idrocefalo-agenesia del cervelletto","definition":"Si tratta di una malattia malformativa rara, causata da un difetto di sviluppo dell'embrione, caratterizzata da idrocefalo non comunicante congenito, agenesia del cervelletto e assenza dei forami di Luschka e Magendie. Poco dopo la nascita, i pazienti presentano ipotonia, areflessia o iporeflessia, crisi epilettiche e/o cianosi. La malattia è letale nel periodo neonatale. Non sono stati descritti nuovi casi dopo il 1973."},"nl":{"name":"Hydrocefalie - cerebellaire agenesie-syndroom","definition":"Een zeldzaam malformatiesyndroom met een ontwikkelingsdefect tijdens de embryogenese, gekenmerkt door congenitale, niet-communicerende hydrocefalie, cerebellaire agenesie en afwezigheid van foramen van Luschka en foramen van Magendie. Patiënten presenteren zich kort na de geboorte met hypotonie, areflexie of hyporeflexie, insulten en/of cyanose. De aandoening is fataal in de neonatale periode. Sinds 1978 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de hidrocefalia-agenesia cerebelosa"},"pl":{"name":"Zespół wodogłowia i agenezji móżdżku","synonyms":["Zespół wodogłowia, agenezji móżdżku i niepełnosprawności intelektualnej sprzężony z chromosomem X"]},"cs":{"name":"Syndrom zahrnující agenezi mozečku a hydrocefalus"},"uk":{"name":"Синдром гідроцефалії - мозочкової агенезії","definition":"A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth. The condition is fatal in the neonatal period. There have been no further descriptions in the literature since 1978."},"zh":{"name":"脑积水-小脑发育不全综合征"},"tr":{"name":"Hidrosefali-serebellar agenezi sendromu"}},"xrefs":[{"source":"OMIM","code":"307010","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010612","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274899","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1200","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":269567,"name":"Genetic syndrome with a cerebellar malformation as a major feature","classifications":[156]},{"orpha":269523,"name":"Syndrome with a cerebellar malformation as a major feature","classifications":[147,181]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_657584[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"657584[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012642","label":"Cerebellar agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null}]}}