aniridia-absent patella syndrome
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.
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
aniridia absent patella
related
familial syndrome of aniridia and absence of the patella
related