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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 1
  • Rieger Syndrome, Type 1
  • Axenfeld-Rieger Syndrome, Type 3
  • Rieger Syndrome, Type 3
  • Axenfeld-Rieger Anomaly with or without Cardiac Defects and-or Sensorineural Hearing Loss
  • Anterior Chamber Cleavage Syndrome
  • Axenfeld Syndrome

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