Contributor: Gordon K. Klintworth
The Rieger syndrome (iridogoniodysgenesis with somatic anomalies) is a genetically heterogeneous autosomal dominant syndrome consisting of the malformations of structures derived from the embryonic neural crest involving the anterior segment of the eye (Rieger anomaly) combined with anomalies of the skeleton (maxillary hypoplasia [hypoplasia - maxilla]), teeth (macrodontia, hypodontia, hyperdontia) and other parts of the body (hypospadias, redundant periumbilical skin due to a failure of involution). Less common associated developmental anomalies involve the brain (hydrocephalus), ear (hearing defect), heart [congenital heart disease], kidney (fetal lobulation), joints (congenital hip deformities), gastointestinal tract (anal stenosis) and testis (cryptorchidism). The ocular abnormalites include microcornea, iris hypoplasia [hypoplasia - iris] and anterior synechiae. Glaucoma is common and often (~50% of cases) leads to blindness. The condition was first described by Herwigh Rieger (1898-1986) a German Ophthalmologist in 1935. At least two types of Rieiger syndrome have been identified [Rieger syndrome type I, Rieger syndrome type II].