Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

Orpha code: 2703OMIM code:

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.

Disease data
Classification

Malformation syndrome

Synonyms
Nova syndrome
Zespół Nova
ORPHA code
2703
OMIM code
-
ICD10 code
Q03.8
ICD11 code
-

No additional description.

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