Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

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.

Also known as nova syndrome — per MONDO

Also identified as