Joubert

Joubert syndrome is a rare genetic disorder that affects the area of the brain that controls balance and coordination. The syndrome is characterized by the absence or underdevelopment of the cerebellar vermis - an area of the brain that controls balance and coordination - and a malformed brain stem (molar tooth sign).

Symptoms

The most common symptoms of Joubert syndrome include hypotonia (low muscle tone), difficulties with coordination, abnormal eye movements, abnormal breathing pattern and intellectual disability. Some individuals may also have polydactyly (extra fingers or toes), cleft palate or liver disease.

Causes

Joubert syndrome is caused by mutations in any one of at least 35 different genes. It is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.

Diagnosis

Diagnosis of Joubert syndrome is based on clinical features and confirmed by genetic testing. Imaging studies such as MRI can also be helpful in making the diagnosis.

Treatment

There is no cure for Joubert syndrome. Treatment is supportive and depends on the symptoms in each person. This may include physical therapy, speech therapy, occupational therapy, and/or educational support.

Prognosis

The prognosis for individuals with Joubert syndrome varies and depends on whether or not the individual has other underlying health conditions. Some individuals with Joubert syndrome may have a normal lifespan, while others may have life-threatening complications.

See also

• Cerebellar vermis
• Molar tooth sign
• Genetic testing
• Autosomal recessive

Joubert Resources
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