Absence deformity of leg-cataract syndrome

MONDO:0009516

Absence deformity of leg B 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.

Also known as: leg, absence deformity of, with congenital cataract

1 clinical trial for this condition and its sub-types, 0 tagged with Absence deformity of leg-cataract syndrome itself.

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Where it sits in the disease tree

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Part of

↑ Hereditary disease (18235) ↑ Dysostosis (85) ↑ Congenital limb malformation (61)

Including sub-types (1) Tagged with Absence deformity of leg-cataract syndrome (0)

Completed 1

Kids test new bionic foot design

Knowledge-focused Completed

This study tested a new prosthetic foot for children with leg amputations or birth defects. Thirteen kids walked with the device and gave feedback on stiffness and performance. The goal was to gather ideas to improve future foot designs.

Sponsor: Össur Iceland ehf • Aim: Knowledge-focused

Last updated Jun 27, 2026 14:00 UTC

Absence deformity of leg-cataract syndrome

Where it sits in the disease tree

Kids test new bionic foot design