Joubert syndrome

Joubert syndrome is a rare condition that affects brain development. It involves a congenital malformation of the brainstem and issues with the cerebellum. People with this condition may show signs of abnormal breathing patterns in infancy and distinctive eye movements. This disorder is also marked by low muscle tone (hypotonia) and trouble with balance and coordination (ataxia). There is often a delay in reaching motor milestones, which may be linked to the brain abnormalities described.

Common symptoms of Joubert syndrome include an abnormal respiratory pattern, involuntary eye movements (nystagmus), low muscle tone (hypotonia), problems with balance and coordination (ataxia), and delays in achieving motor milestones.

Joubert syndrome is caused by congenital malformations, meaning the changes in brain development are present at birth. These include issues with the brainstem and the part of the brain called the cerebellar vermis. Information on genetic causes such as specific genes is currently limited for this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.