Joubert Syndrome
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What is Joubert Syndrome?Is there any treatment?What is the prognosis?What research is being done?OrganizationsWhat is Joubert Syndrome?
Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis - an area of the brain that controls balance and coordination. The most common features of Joubert syndrome in infants include
abnormally rapid breathing (hyperpnea), jerky eye movements, mental retardation, and the inability to coordinate voluntary muscle movements (ataxia). Physical deformities may be present, such as extra fingers and toes, cleft lip or palate, and tongue abnormalities. Seizures
may also occur. Most cases of Joubert syndrome are sporadic (in other words, no other family member has the disorder), but
in some families, Joubert syndrome appears to be inherited via a recessive gene.
Is there any treatment?
Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy
may benefit some children. Infants with abnormal breathing patterns should be monitored
What is the prognosis?
The prognosis for infants with Joubert syndrome depends on whether or not the cerebellar vermis is entirely absent or partially
developed. Some children have a mild form of the disorder, with minimal motor disability and good mental development, while
others may have severe motor disability and moderate mental retardation.
What research is being done?
The NINDS supports research on the development of the nervous system and the cerebellum. This research is critical for increasing
our understanding of Joubert syndrome, and for developing methods of treatment and prevention. NINDS, in conjunction with
the NIH Office of Rare Disorders, sponsored a symposium on Joubert syndrome in the summer of 2002. Research priorities for
the disorder were outlined at this meeting. For more information please refer to the website listed below.
Select this link
to view a list of studies currently seeking patients.
Organizations
Prepared by:
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National Institute of Neurological Disorders and Stroke
National Institutes of Health
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on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined
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Last updated February 13, 2007
