Rhombencephalosynapsis
ORPHA:59315· ICD-10 Q04.3
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 with other malformations of the brain.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal