What is Joubert Syndrome?
Joubert Syndrome is a very rare genetic disorder in which there are congenital problems which fit into a recognizable pattern of features.

What are the characteristics of Joubert Syndrome?
The most typical features of Joubert Syndrome include:

Absence or underdevelopment of part of the brain called the cerebellum vermis which controls balance and coordination.
A malformed brain stem, which may cause an abnormal breathing pattern called episodic hypernea, in which babies pant, and may be followed by apnea (cessation of breathing).
Abnormal eye and tongue movements.
Decreased muscle tone. It can be marked in the neonatal period and in infancy.
Seizures (less typical).
How is Joubert Syndrome diagnosed with an MRI?
Please see the "Molar Tooth" MRI scan on the Diagnostic section.

How is Joubert Syndrome inherited?
Joubert Syndrome is inherited in an autosomal recessive manner. Both parents are carriers of the gene. Genetic testing is not currently available to detect this condition. Parents who have a child with Joubert Syndrome have a 1 in 4 chance of having another affected child in another pregnancy. Prenatal testing with a level 3 ultrasound may be possible.

What is the prognosis for Joubert Syndrome?
While global developmental delay is frequent, health and growth are usually not severely affected. Commonly there is a degree of mild or moderate retardation. Severe mental retardation is uncommon. There are a few cases of affected individuals with normal intelligence or learning abilities.

What is the treatment for Joubert Syndrome?
Infant stimulation, physical therapy, occupational therapy, and speech therapy are valuable. Somewhat less traditional therapies such as auditory training, sensory integration, horseback therapy and water therapy have also been found to be very beneficial. Infants with abnormal breathing should have apnea monitoring.

Click here to access the Joubert Syndrome Fact Sheet