{"orpha":97252,"name":"Mega-cisterna magna","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, non-syndromic, posterior fossa malformation characterized by a cisterna magna that measures above 15 mm in length, 5 mm in height and 20 mm in width (or greater than 10 mm in fetuses) associated with a normal cerebellar vermis and absence of hydrocephalus. The majority of patients are asymptomatic; however, variable neurodevelopmental outcomes, including delayed speech and language development, motor development delay, visiospatial perception difficulties, and attention problems, has been observed in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97252/","orphanet_url":"https://www.orpha.net/en/disease/detail/97252","names":{"fr":{"name":"Méga-cisterna magna","synonyms":["Poche arachnoïdienne de la cisterna magna"],"definition":"Malformation rare, non syndromique, de la fosse postérieure caractérisée par une cisterna magna mesurant plus de 15 mm de longueur, 5 mm de hauteur et 20 mm de largeur (ou plus de 10 mm chez le foetus) associée à un vermis cérébelleux normal et à l'absence d'hydrocéphalie. La majorité des patients sont asymptomatiques ; cependant, sur le plan neurodéveloppemental, diverses anomalies (retard de parole et de langage, retard de développement moteur, trouble visuo-spatial et problèmes d'attention) ont été observées chez certains patients."},"de":{"name":"Megacisterna magna","definition":"Eine seltene, nicht-syndromale Fehlbildung der hinteren Schädelgrube, die durch eine Cisterna magna mit einer Länge von mehr als 15 mm, einer Höhe von 5 mm und einer Breite von 20 mm (oder mehr als 10 mm bei Föten) in Verbindung mit einem normalen Kleinhirnwurm und dem Fehlen eines Hydrocephalus gekennzeichnet ist. Die Mehrheit der Patienten ist asymptomatisch; bei einigen Patienten wurden jedoch unterschiedliche neurologische Entwicklungsergebnisse beobachtet, darunter eine verzögerte Sprachentwicklung, eine Verzögerung der motorischen Entwicklung, Schwierigkeiten bei der visuell-räumlichen Wahrnehmung und Aufmerksamkeitsprobleme."},"es":{"name":"Megacisterna magna","definition":"Es una malformación no sindrómica y poco frecuente de la fosa posterior caracterizada por una cisterna magna superior a 15 mm de longitud, 5 mm de altura y 20 mm de anchura (o más de 10 mm en el feto) asociada a un vermis cerebeloso normal y ausencia de hidrocefalia. La mayoría de los pacientes permanecen asintomáticos; sin embargo, en algunos pacientes se han observado consecuencias variables en el neurodesarrollo que incluyen retraso del habla y el lenguaje, retraso en el desarrollo motor, dificultades en la percepción visuoespacial y déficit de atención."},"it":{"name":"Mega cisterna magna","definition":"È una malformazione rara non sindromica della fossa posteriore, caratterizzata da una cisterna magna che è lunga oltre 15 mm, alta 5 mm e profonda 20 mm (oltre 10 mm nei feti), associata a un verme cerebellare normale, in assenza di idrocefalo. La maggior parte dei pazienti è asintomatica; tuttavia, alcuni di essi possono presentare deficit variabili dello sviluppo neurologico, compreso il ritardo dello sviluppo motorio e del linguaggio, le difficoltà nella percezione visuo-spaziale e i deficit di attenzione."},"nl":{"name":"Mega-cisterna magna","definition":"Een zeldzame, niet-syndromale malformatie van de achterste schedelgroeve (fossa cranii posterior) die gekarakteriseerd wordt door een cisterna magna groter dan 15mm lang, 5mm hoog en 20mm breed (of groter dan 10mm in foetussen), geassocieerd met een normale cerebellaire vermis en afwezigheid van hydrocefalie. Het merendeel van de patiënten is asymptomatisch, maar bij sommige patiënten wordt echter een variabele uitkomst van de neurologische ontwikkeling waargenomen, waaronder vertraagde spraak- en taalontwikkeling, motorische ontwikkelingsachterstand, problemen met visuospatiële perceptie, en aandachtsproblemen."},"pt":{"name":"Megacisterna magna"},"pl":{"name":"Mega-cisterna magna"},"cs":{"name":"Mega cisterna magna"},"uk":{"name":"Mega-cisterna magna","definition":"A rare, non-syndromic, posterior fossa malformation characterized by a cisterna magna that measures above 15 mm in length, 5 mm in height and 20 mm in width (or greater than 10 mm in fetuses) associated with a normal cerebellar vermis and absence of hydrocephalus. The majority of patients are asymptomatic; however, variable neurodevelopmental outcomes, including delayed speech and language development, motor development delay, visiospatial perception difficulties, and attention problems, has been observed in some patients."},"zh":{"name":"巨大枕大池","definition":"后颅窝畸形一种罕见的非综合征性后颅窝畸形，特征为枕大池，长大于15 mm，高大于5 mm，宽大于20 mm（胎儿中大于10 mm），有正常的小脑蚓部及无脑积水表现。大多数患者无症状；然而，在一些患者中观察到各种神经发育结果，包括言语和语言发育迟缓、运动发育迟缓、视觉空间知觉困难和注意力问题。"},"tr":{"name":"Mega-sisterna magna"}},"xrefs":[{"source":"ICD-10","code":"Q07.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019953","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3164501","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":729563,"name":"Isolated posterior fossa cystic malformation","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}