Axenfeld-Rieger syndrome

An autosomal dominant condition (OMIM:180500) characterised by hypodontia, defect of the anterior chamber of the eye, myotonic dystrophy and anal stenosis.
Molecular pathology
Type-1 Axenfield-Rieger syndrome is caused by a mutation in a homeobox transcription factor gene PITX2; a second type of A-R syndrome has a defect that maps to chomosome 14q13, RIEG2.

Axenfeld-Rieger syndrome

(ăk′sĕn-fĕld-rē′gĕr) [Karl Theodor Paul Polykarpus Axenfeld, German ophthalmologist, 1867–1930; Herwigh Rieger, Austrian ophthalmologist, 1898–1986] ,

A-R syndrome

A congenital disorder of the anterior chamber of the eye with anomalous development of the iris. The ocular manifestations are always present in both eyes. Glaucoma develops in nearly half of all patients. Patients with A-R syndrome may also have developmental anomalies in other organs, including the skin, heart, facial bones, teeth, and pituitary gland.

单词	axenfeld-rieger syndrome
释义	Axenfeld-Rieger syndrome Axenfeld-Rieger syndrome An autosomal dominant condition (OMIM:180500) characterised by hypodontia, defect of the anterior chamber of the eye, myotonic dystrophy and anal stenosis. Molecular pathology Type-1 Axenfield-Rieger syndrome is caused by a mutation in a homeobox transcription factor gene PITX2; a second type of A-R syndrome has a defect that maps to chomosome 14q13, RIEG2. Axenfeld-Rieger syndrome (ăk′sĕn-fĕld-rē′gĕr) [Karl Theodor Paul Polykarpus Axenfeld, German ophthalmologist, 1867–1930; Herwigh Rieger, Austrian ophthalmologist, 1898–1986] , A-R syndrome A congenital disorder of the anterior chamber of the eye with anomalous development of the iris. The ocular manifestations are always present in both eyes. Glaucoma develops in nearly half of all patients. Patients with A-R syndrome may also have developmental anomalies in other organs, including the skin, heart, facial bones, teeth, and pituitary gland.
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