Joubert Syndrome and Related Disorders Foundation

The Joubert Syndrome and Related Disorders Foundation (JSRDF) is an international network of parents who share emotional support, knowledge, and experiences about Joubert syndrome, a rare genetic disorder characterized by partial or complete absence of a certain area of the brain (cerebellar vermis), diminished muscle tone (hypotonia), mental retardation, psychomotor retardation, abnormal eye movements, and respiratory abnormalities including episodes of abnormally rapid breathing. Established in 1992, the organization maintains a networking list, produces a regular newsletter, conducts biannual conferences, promotes public awareness, and seeks to educate physicians and their support teams about this rare disorder.