Isolated Dandy-Walker malformation

Orpha code: 217OMIM code: 220200

Definition

A rare non-syndromic central nervous system malformation characterized by the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia.

Disease data
Classification

Morphological anomaly

ORPHA code
217
OMIM code
220200
ICD10 code
Q03.1
ICD11 code
LA06.0

No additional description.

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