Although most recognized for its correlation with the onset of glaucoma, the malformation is not limited to the eye, as<unk>  when associated with the PITX2 genetic mutation usually presents congenital malformations of the face, teeth, and skeletal system. The most characteristic feature affecting the eye is a distinct corneal posterior arcuate ring, known as an "embryotoxon". In severe cases, iris may be adherent to the cornea anterior to the Schwalbe's line. One of the three known genetic mutations which cause<unk>  syndrome can be identified through genetic samples analysis. About 40% of<unk><unk>  sufferers have displayed mutations in genes PITX2, FOXC1, and PAX6. The difference between Type 1, 2, and 3<unk>  is the genetic cause, all three types display the same symptoms and abnormalities. Classification The OMIM classification is as follows: Type OMIM Gene Type 1 PITX2 Type 2 possibly FOXO1A Type 3 FOXC1 DeHauwere syndrome Unknown Detection of any of these mutations can give patients a clear diagnosis and prenatal procedures such as preimplantation genetic diagnosis, chorionic villus sampling and amniocentesis can be offered to patients and prospective parents.
Axenfeld–Rieger syndrome
Zunich–Kaye syndrome
Pelizaeus–Merzbacher disease
Kufor–Rakeb syndrome
Hurler–Scheie syndrome
TORCH syndrome
Joubert syndrome
Cornelia de Lange syndrome