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Axenfeld-Rieger syndrome

Disease definition

Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.

ORPHA:782

  • Synonym(s):
    • Axenfeld syndrome
    • Rieger syndrome
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q13.8
  • OMIM: 180500  601499  602482
  • UMLS: C0265341  C3495488
  • MeSH: C535679
  • GARD: 5701
  • MedDRA: 10059255

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