We are celebrating our 21st year of providing information about the disorder to families all over the world!

Joubert Syndrome and its related disorders are rare genetic disorders characterized by decreased muscle tone, difficulties with coordination, abnormal eye movements, abnormal breathing pattern and cognitive impairment. Joubert Syndrome is one of a growing group of disorders called "ciliopathies," caused by dysfunction of a part of the cell called the cilium. Disruption of cilium function likely explains the incidence of eye, kidney and liver problems in individuals with Joubert Syndrome.

The Joubert Syndrome & Related Disorders Foundation (JSRDF)

• Is a nonprofit organization that has been providing information about the disorder to families all over the world since 1992!
• Is an international network of parents who share knowledge, experience, and emotional support.
• Offers a networking list, newsletter, and a biennial conference.
• Plays an important role in educating physicians and their support teams as well as increasing public awareness.

This website is funded entirely by private contributions made by members and friends of the JSRDFoundation.