Axenfeld-Rieger syndrome [Supplementary Concept]
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)
Date introduced: August 25, 2010
MeSH Unique ID: C535679
Heading Mapped to:
Entry Terms:
- Rieger syndrome
- Iridogoniodysgenesis with somatic anomalies
- Axenfeld-Rieger Anomaly
- Axenfeld Anomaly
- Axenfeld-Rieger Syndrome, Type 3
- Axenfeld-Rieger Anomaly with or without Cardiac Defects and-or Sensorineural Hearing Loss
- Anterior Chamber Cleavage Syndrome
- Rieger Syndrome, Type 3
- Axenfeld Syndrome
- Axenfeld-Rieger Syndrome, Type 1
- Rieger Syndrome, Type 1