Axenfeld-Rieger syndrome type 3

Axenfeld-Rieger syndrome type 3 is a rare condition that falls under the group of Axenfeld-Rieger syndromes. This type is specifically caused by a mutation in the FOXC1 gene. The condition can affect the development of certain parts of the eyes and is known by several names, including Axenfeld-Rieger anomaly and anterior chamber cleavage syndrome. The disease is identified as part of a broader spectrum of anterior segment disorders. The provided information emphasizes that the underlying cause is a mutation in the FOXC1 gene, as noted in the definition. Multiple synonyms are used to describe this condition, reflecting its varied presentation and association with other features in some people with this diagnosis.

Information about symptoms is currently limited for this condition.

Axenfeld-Rieger syndrome type 3 is caused by a mutation in the FOXC1 gene. This genetic change leads to the condition, placing it in the spectrum of Axenfeld-Rieger syndromes. The specific mutation disrupts normal development in the areas affected by the condition.

Information about treatment options and management approaches is currently limited for this condition.

Information about the outlook and quality of life for people with this condition is currently limited.

Information about current research and future directions for this condition is currently limited.