{"orpha":199647,"name":"Isolated encephalocele","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, neural tube closure defect characterized by partial lacking of bone fusion, resulting in sac-like protrusions of the brain and the membranes that cover it through the openings in the skull. Protruding tissue may be located on any part of the head, but most often affects the occipital area. Depending in the size and location, encephalocele are often associated with neurological problems including intellectual disability, seizures, vision impairment, ataxia, and hydrocephalus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-199647/","orphanet_url":"https://www.orpha.net/en/disease/detail/199647","names":{"fr":{"name":"Encéphalocèle isolée","definition":"Défaut rare de fermeture du tube neural caractérisé par une fusion osseuse incomplète, donnant lieu à des protubérances, en forme de poches, du cerveau et des membranes qui le recouvrent au niveau des ouvertures du crâne. Les tissus protubérants peuvent être situés sur n'importe quelle partie de la tête, bien que généralement situés sur la région occipitale. En fonction de sa taille et de sa localisation, l'encéphalocèle est souvent associée à des problèmes neurologiques, dont déficience intellectuelle, convulsions, troubles de la vision, ataxie et hydrocéphalie."},"de":{"name":"Enzephalozele, isolierte","definition":"Es handelt sich um einen seltenen Neuralrohrverschlussdefekt, der durch eine teilweise fehlende Knochenfusion gekennzeichnet ist, was zu sackförmigen Vorwölbungen des Gehirns und seiner Hüllmembranen durch die Öffnungen des Schädels führt. Die Gewebevorwölbungen können sich an jeder beliebigen Stelle des Kopfes befinden, am häufigsten ist jedoch der Hinterkopfbereich betroffen. Je nach Größe und Lage geht die Enzephalozele häufig mit neurologischen Problemen wie Intelligenzminderung, Krampfanfällen, Sehstörungen, Ataxie und Hydrozephalus einher."},"es":{"name":"Encefalocele aislado","definition":"Es un defecto poco frecuente de cierre del tubo neural caracterizado por la ausencia parcial de fusión ósea, dando lugar a protrusiones en forma de saco del cerebro y de las membranas que lo recubren a través de las aperturas craneales. El tejido protruyente puede estar localizado en cualquier parte de la cabeza, aunque afecta con mayor frecuencia al área occipital. Dependiendo del tamaño y de la localización, el encefalocele se asocia a menudo con problemas neurológicos, incluyendo discapacidad intelectual, crisis comiciales, alteración visual, ataxia e hidrocefalia."},"it":{"name":"Encefalocele isolato","definition":"Si tratta di un difetto raro di chiusura del tubo neurale, caratterizzato dalla parziale mancanza di fusione dell'osso, che esita in protrusioni sacculari del cervello e delle membrane che lo ricoprono attraverso le aperture del cranio. Il tessuto può sporgere da qualsiasi area della testa, ma preferibilmente si localizza nell'area occipitale. A seconda delle dimensioni e della localizzazione, spesso l'encefalocele si associa a problemi neurologici, come la disabilità intellettiva, le crisi epilettiche, la compromissione della vista, l'atassia e l'idrocefalo."},"nl":{"name":"Geïsoleerde encefalocele","definition":"Een zeldzaam neuralebuisdefect, gekarakteriseerd door partieel gebrek aan botfusie, wat leidt tot zak-achtige uitstulpingen van hersenen en hersenvliezen doorheen de openingen in de schedel. Uitstulpend weefsel kan overal op het hoofd gelokaliseerd zijn, maar meestal wordt het achterhoofd getroffen. Afhankelijk van de omvang en de locatie is encefalocele vaak geassocieerd met neurologische problemen, waaronder intellectuele achterstand, insulten, verlies van gezichtsvermogen, ataxie, en hydrocefalie."},"pt":{"name":"Encefalocelo"},"pl":{"name":"Izolowana przepuklina mózgowa"},"cs":{"name":"Izolovaná encefalokéla"},"uk":{"name":"Ізольоване енцефалоцеле","definition":"A rare, neural tube closure defect characterized by partial lacking of bone fusion, resulting in sac-like protrusions of the brain and the membranes that cover it through the openings in the skull. Protruding tissue may be located on any part of the head, but most often affects the occipital area. Depending in the size and location, encephalocele are often associated with neurological problems including intellectual disability, seizures, vision impairment, ataxia, and hydrocephalus."},"zh":{"name":"孤立性脑膨出","definition":"孤立性脑膨出是一种罕见的神经管闭合缺陷，其主要临床表现为部分骨融合缺乏，导致大脑出现囊样突起，脑膜经颅骨开口覆盖大脑。突出的组织可位于头部的任何部位，最常累及枕部。脑膨出大小和位置通常与神经系统症状有关，包括智力障碍、惊厥、视力损害、共济失调和脑积水。"},"tr":{"name":"İzole ensefalosel"}},"xrefs":[{"source":"ICD-10","code":"Q01.0","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q01.1","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q01.2","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q01.8","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q01.9","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2115894108"},{"source":"MONDO","code":"0016057","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D004677","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680519","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6333","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10014617","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":268817,"name":"Cephalocele","classifications":[147,156,181]}],"children":[{"orpha":268829,"name":"Basal encephalocele","type":"Clinical subtype"},{"orpha":1931,"name":"Frontal encephalocele","type":"Clinical subtype"},{"orpha":141118,"name":"Nasal encephalocele","type":"Clinical subtype"},{"orpha":268823,"name":"Occipital encephalocele","type":"Clinical subtype"},{"orpha":268826,"name":"Parietal encephalocele","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"DACT1","name":"dishevelled binding antagonist of beta catenin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22610794[PMID]","hgnc":"17748","ensembl":"ENSG00000165617","omim":"607861","loci":["14q23.1"],"via":{"orpha":268823,"name":"Occipital encephalocele"}}],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}