/aniridia-absent patella syndrome

aniridia-absent patella syndrome

Rare Disease

MONDO:0007120

Also Known As

aniridia absent patellaaniridia and absent patellafamilial syndrome of aniridia and absence of the patella

Definition

Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.