Description
Welcome to Joubert Syndrome UK a support group for parents, carers and individuals with Joubert Syndrome and Related Disorder.
Joubert Syndrome and Related Disorders are rare genetic disorders that are also part of a group of disorders called ciliopathies.
Ciliopathy disorders are caused by dysfunction of a part of the cell called the cilium.
Joubert Syndrome affects the cerebellar vermis and the brainstem and is underdeveloped or absent in individuals with Joubert syndrome.
Kidney, Eye and Liver disease,Polydactyly (extra fingers and toes), Hyperpnea (abnormal breathing patterns) can also present with Joubert Syndrome.