/aniridia-renal agenesis-psychomotor retardation syndrome

aniridia-renal agenesis-psychomotor retardation syndrome

Rare Disease

MONDO:0008796

Also Known As

Sommer-Rathbun-Battles syndromeSommer Rathbun Battles syndromeaniridia partial with unilateral renal agenesis and psychomotor retardationaniridia renal agenesis psychomotor retardationaniridia, partial, with unilateral renal agenesis and psychomotor retardation

Definition

Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.