Our Syndrome. Your Information.

Our best hope for finding new treatments and raising awareness is your participation in JS-LIFE, the JSRDF patient-centered registry.

Whether you are affected, a caregiver, or related to someone who is or was affected, your information* could be the key. Please take a few moments to answer a few questions today.
*only one survey is necessary per affected individual


Joubert Syndrome UK








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.

Please explore the site by clicking on the buttons to the side.


What is Joubert Syndrome? - Further information on Joubert Syndrome, Related Disorders and Ciliopthies.

Newly Diagnosed - Offers a starting point for Parents and Carers.


About JSUK - Find out more about JSUK and what we do.


Gallery - Read personal stories and view our children's photos.


Noticeboard - Latest News for JSUK


Information contained on this website is not intended to replace information you have received from Doctors or other Health Professionals.
You should always consult with a Medical Professional for medical advice.
JSUK does not endorse any products nor can we be held responsible for any external links and their content.
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