Axenfeld Rieger Syndrome is caused by disruption of one copy of the PITX2 or FOXC1 gene. This can be caused by deletion of one copy of the gene or a misspelling (variant or mutation) in one copy of the gene. The genetic change can be inherited from an unaffected parent or may be a new change in an affected child.
Axenfeld Rieger syndrome is inherited in an autosomal dominant manner, meaning only one copy of the gene is affected. Children of an affected person have a 50% chance of inheriting the condition.
This disorder is seen in approximately 1 in 200,000 live births. There is no sex predilection.
* The information on this page has been checked and edited for accuracy by Linda Reis (MS, CGC) at the Medical College of Wisconsin.
