Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

Orpha code: 2703OMIM code:

Definicja

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
Klasyfikacja

Malformation syndrome

Synonimy
Nova syndrome
Zespół Nova
Kod ORPHA
2703
Kod OMIM
-
Kod ICD10
Q03.8
Kod ICD11
-

No additional description.

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