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. [1] It has been described in two distantly related kin of Amish descent. [2] [3]