Rieger syndrome


NCI: A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth.,JABL: Axenfeld anomaly (defect of the peripheral segment of the eye) and Rieger anomaly (defect of the anterior segment of the eye) associated with variable craniofacial abnormalities, abnormal dentition, dysplastic oculomotor muscles, hydrocephalus, hypertelorism, facial or abducent palsy, and mental retardation.,JABL: Malformations of the anterior chamber of the eye and teeth with abnormalities involving the craniofacial structures, myotonic dystrophy, umbilical anomalies, and other variable defects. Psychomotor retardation occurs in some cases.

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