Joubert Syndrome Biennial Conference: Advancing Translational Ciliopathy Research, Enhancing Clinical Care

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.