Rieger syndrome: a clinical, molecular, and biochemical analysis

Rieger syndrome (RIEG I; MIM 180500) is an autosomal dominant disorder of m orphogenesis. It is a phenotypically heterogeneous disorder characterized b y malformations of the eyes, teeth, and umbilicus. RIEG belongs to the Axen feld-Rieger group of anomalies, which includes Axenfeld anomaly and Rieger anomaly (or Rieger eye malformation), which display ocular features only. R ecently, mutations in the homeodomain transcription factor, PITX2, have bee n shown to be associated with Rieger syndrome. This review discusses the cl inical manifestations of Rieger syndrome and how they correlate with the cu rrent molecular and biochemical studies on this human disorder.