Gms Syndrome

Kupchik et al. (1990, 1992) described a mother and infant daughter with goniodysgenesis (Rieger malformation), mental retardation and short stature. They also showed small ears, microcephaly, short nose with depressed nasal bridge, and small hands. This was considered to be different from the SHORT syndrome (269880), the Rieger syndrome (180500), and other previously described disorders. The Rieger changes in the anterior chamber of the eye consisted of iris hypoplasia, a prominent Schwalbe line, and iris adhesions that attached to the Schwalbe line.