Genes:
(1) PITX2: at 4q25
(2) FOXC1: at 6p25
Inheritance: autosomal dominant
Ocular findings associated with anterior segment dysgenesis:
(1) heterochromia
(2) aniridia
(3) coloboma of the iris
(4) corectopia
(5) pseudopolycoria
(6) corneal vascularization
(7) corneal hydrops
(8) persistent papillary membrane
(9) corneal opacities
(10) secondary glaucoma
Systemic findings (more common with FOXC1):
(1) dental defects (mandibular prognathism, hypodontia, microdontia, oligodontia)
(2) mild craniofacial malformations (midface hypoplasia, hypertelorism, telecanthus, prominent forehead, broad nasal bridge)
(3) umbilical anomalies (redundant periumbilical skin)
(4) variable malformations of the cardiac valves
(5) variable endocrine anomalies (pituitary)
(6) variable sensorineural hearing loss
(7) variable hypospadia in males
(8) variable anal stenosis
(9) variable growth retardation
