Axenfeld–Rieger syndrome is characterized by abnormalities of the eyes, teeth, and facial structure. Rieger syndrome, by medical definition, is determined by the presence of malformed teeth, underdeveloped anterior segment of the eyes, and cardiac problems associated with the Axenfeld anomaly. The term "Rieger syndrome" is sometimes used to indicate an association with glaucoma. Glaucoma occurs in up to 50% of patients with Rieger syndrome. Glaucoma develops during adolescence or late childhood, but often occurs in infancy. In addition, a prominent Schwalbes line, an opaque ring around the cornea known as posterior embryotoxon, may arise with hypoplasia of the iris. Below average height and stature, stunted development of the mid-facial features and mental deficiencies may also be observed in patients. References
Further reading
Amendt, Brad A., ed. (2005). The Molecular Mechanisms of Axenfeld-Rieger Syndrome. Medical Intelligence Unit. Springer. doi:10.1007/0-387-28672-1. ISBN 978-0-387-28672-3. Agarwal, Sunita; Agarwal, Athiya; Apple, David J., eds. (2002). "Axenfeld-Rieger Syndrome". Textbook of Ophthalmology. Jaypee Brothers. pp. 1049–51. ISBN 978-81-7179-884-1. Shields, M.Bruce; Buckley, Edward; Klintworth, Gordon K.; Thresher, Randy (1985). "Axenfeld-Rieger syndrome. A spectrum of developmental disorders". Survey of Ophthalmology. 29 (6): 387–409. doi:10.1016/0039-6257(85)90205-X. PMID 3892740. Alward, Wallace L.M. (2000). "Axenfeld-Rieger syndrome in the age of molecular genetics". American Journal of Ophthalmology. 130 (1): 107–15. doi:10.1016/S0002-9394(00)00525-0. PMID 11004268. External links

Axenfeld Rieger syndrome at NIHs Office of Rare Diseases
Axenfeld Rieger anomaly with cardiac defects and sensorineural hearing loss at NIHs Office of Rare Diseases
S2CID 33856792.Review
Wetzel-Strong, Sarah E; Detter, Matthew R; Marchuk, Douglas A (2017-01-01). "The pathobiology of vascular malformations: insights from human and model organism genetics". The Journal of Pathology. 241 (2): 281–293. doi:10.1002/path.4844. ISSN 1096-9896. PMC 5167654. PMID 27859310. Albuisson, Juliette; Moceri, Pamela; Flori, Elisabeth; Belli, Emre; Gronier, Céline; Jeunemaitre, Xavier (2017-03-21). "Clinical utility gene card for: Arterial tortuosity syndrome". European Journal of Human Genetics. 23 (10): 1432. doi:10.1038/ejhg.2014.294. ISSN 1018-4813. PMC 4592088. PMID 25604859. == External links ==