Absence deformity of leg-cataract syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Absence deformity of leg-cataract syndrome?
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