Septo-optic dysplasia spectrum
ORPHA:3157· ICD-10 Q04.4
Definition
A rare clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal