Medpedia

Joubert Syndrome is a rare genetic disorder that affects the area of the brain that controls balance and coordination. The disorder is characterized by agenesis or hypoplasia of the cerebellar vermis. The most common features include ataxia and hypotonia, as well as hyperpnea, apnea and abnormal eye and tongue movements. Some individuals with Joubert Syndrome experience seizures. Those affected by Joubert Syndrome may also have an elevated risk of developing kidney and liver disease.