Holoprosencephaly
ORPHA:2162· ICD-10 Q04.2
Definition
A rare complex brain malformation characterized by incomplete cleavage of the prosencephalon, and affecting both the forebrain and face and resulting in neurological manifestations and facial anomalies of variable severity.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive, Multigenic/multifactorial, Not applicable, Oligogenic, X-linked dominant
- Age of onset
- Antenatal, Neonatal