Absence deformity of leg-cataract syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

Newly diagnosed with
Absence deformity of leg-cataract syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.