Absence deformity of leg-cataract syndrome
ORPHA:2310· ICD-10 Q87.2
Definition
A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal