Isolated tibial hemimelia
ORPHA:93322· ICD-10 Q72.5
Definition
A rare congenital limb formation characterized by partial or complete absence of the tibia with a relatively intact fibula.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal