Joubert Syndrome & Related Disorders Foundation

Tuesday, June 19th

This week Michelle and Noldon Starks discussed Joubert syndrome. It is a rare genetic disorder characterized by decreased muscle tone, difficulties with coordination, abnormal eye movements, abnormal breathing patterns and intellectual disability. These issues are due to abnormal brain development, resulting in decreased size of the cerebellar vermis and other brain abnormalities that appear as the “molar tooth sign” on a brain MRI.