PITX2 and Axenfeld-Rieger syndrome: PITX2 is a member of the bicoid-like homeodomain transcription factor family which, when mutated, is responsible for Axenfeld-Rieger syndrome (MIM ID #180500), an autosomal-dominant developmental disorder characterized by ocular anterior chamber anomalies, increased risk for glaucoma, dental hypoplasia, craniofacial dysmorphism and umbilical region abnormalities [1].