Diseases title

Absence deformity of leg - cataract )

Sequencing
Orpha Number: 2310
Synonym(s):

Absence deformity of leg – cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.
source: Orphanet