Rhombencephalosynapsis

Orpha code: 59315OMIM code:

Definition

A rare cerebellar malformation characterized by congenital complete or partial fusion of the cerebellar hemispheres, dentate nuclei, and middle cerebellar peduncles, and complete or partial absence of the vermis. It may occur as an isolated anomaly or together with other malformations of the brain and is associated with variable clinical manifestations including developmental delay, ataxia, dysarthria, oculomotor abnormalities, seizures, and involuntary head movements, among others.

Disease data
Classification

Malformation syndrome

ORPHA code
59315
OMIM code
-
ICD10 code
Q04.3
ICD11 code
-

No additional description.

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