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Joubert Syndrome |
What is Joubert Syndrome?
Joubert Syndrome is a rare, genetic disorder that affects the area of the brain that controls balance and co-ordination.
The disorder is characterized by agenesis (absence) or hypoplasia (underdeveloped) of the part of the brain called the cerebellar vermis and a malformed brain stem.
The most common features of the disorder include ataxia (lack of muscle control), an abnormal breathing pattern called hypernea, sleep apnea, abnormal eye and tongue movements, and hypotonia.
Other malformations such as extra fingers and toes, cleft lip or palate, tongue abnormalities, and seizures may also occur.
The information has been reproduced with permission from the Joubert Syndrome Foundation & Related Cerebellar Disorders website.
Please be advised that the Joubert Syndrome Foundation provides a medical article ''Evaluation and Monitoring of Patients with JS & RCD'' which can be found on their website under 'new families' to share with your consultant.
They also provide a Family Information Packet which includes a membership application form and can be found on their website
under 'contact'
Please use the links above to access the Foundations website for extensive medical knowledge, research and resources.
The Joubert Syndrome Foundation Forum a Yahoo group to exchange information with families worlwide.
