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)
This website is funded entirely by private contributions made by members and friends of the JSRDFoundation.
JSRDF Membership is an important part of the Foundation's business. It helps us continue to work hard on your behalf
and we have exciting things planned for 2013. We are excited that a redesigned website will provide families with additional
resources not offered before such as: Online Chats, Webinars and other special MEMBER ONLY offerings.
2:00 PM @ Westin O'Hare