Mega-cisterna magna

Orpha code: 97252OMIM code:

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.

Disease data
Classification

Morphological anomaly

ORPHA code
97252
OMIM code
-
ICD10 code
Q07.8
ICD11 code
-

No additional description.

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