Isolated anencephaly/exencephaly

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.

Disease data

Classification

Morphological anomaly

ORPHA code

1048

OMIM code

206500

ICD10 code

ICD11 code

LA00.0

*Soruce