Axenfeld-Rieger syndrome
A spectrum of developmental abnormalities affecting the anterior segment of the eye. Blindness due to GLAUCOMA occurs in 50% of cases. Other anomalies include DENTAL ENAMEL HYPOPLASIA, failure of involution of periumbilical skin, and hypoplasia of the MAXILLARY BONE. Germline mutations have been identified in the PITX2 gene for Type I (OMIM: 180500) and the FOXC gene for Type 3 (OMIM: 602482).Type 2 has been mapped to chromosome 13 (OMIM: 601499)
Also Known As:
Anterior Chamber Cleavage Syndrome; Axenfeld Anomaly; Axenfeld Syndrome; Axenfeld-Rieger Anomaly; Axenfeld-Rieger Anomaly with or without Cardiac Defects and-or Sensorineural Hearing Loss; Axenfeld-Rieger Syndrome, Type 1; Axenfeld-Rieger Syndrome, Type 3; Iridogoniodysgenesis with somatic anomalies; Rieger Syndrome, Type 1; Rieger Syndrome, Type 3; Rieger syndrome
Networked: 0
relevant articles (0 outcomes,
0 trials/studies)
Context: Research Results