/Axenfeld-Rieger syndrome type 1

Axenfeld-Rieger syndrome type 1

Rare Disease

MONDO:0008386

Also Known As

Axenfeld-Rieger syndrome caused by mutation in PITX2Axenfeld-Rieger syndrome type 1PITX2 Axenfeld-Rieger syndromeRIEG1Rieger syndrome type 1Axenfeld-Rieger syndrome, type 1RgsRiegRieger syndrome, type 1

Definition

A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth.