/anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis

anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis

Rare Disease

MONDO:0011078

Also Known As

anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosisJung Wolff back Stahl syndrome

Definition

A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.