Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
ORPHA:2703· ICD-10 Q03.8
Definition
A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal