| Absence deformity of leg-cataract syndrome | |
|---|---|
 | |
| Specialty | Medical genetics |
| Complications | Vision impairment |
| Causes | Genetic mutation |
| Prevention | none |
| Prognosis | Medium, nearing bad |
| Frequency | very rare, only 2 cases have been described |
| Deaths | - |
Absence deformity of leg-cataract syndrome is a very rare genetic limb malformation which is characterized by unilateral absence deformity, scoliosis, low stature, and optic nerve dysplasia-associated congenital cataract. It has been described in two distantly related kin of Amish descent.