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Isolated anencephaly/exencephaly

Disease definition

A neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.

ORPHA:1048

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Multigenic/multifactorial or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q00.0
  • OMIM: 206500
  • UMLS: -
  • MeSH: -
  • GARD: 5808
  • MedDRA: -
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