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Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

Disease 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.

ORPHA:2703

Classification level: Disorder
  • Synonym(s):
    • Nova syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Antenatal
  • ICD-10: -
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 4014
  • MedDRA: -
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