What 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.
Organizations
Joubert Syndrome Foundation & Related Cerebellar Disorders
www.jsfrcd.org
info@jsfrcd.org
The Arc of the United States
1010 Wayne Avenue, Suite 650
Silver Spring, MD 20910
Info@thearc.org
www.thearc.org
Tel: 301.565.3842
Fax: 301.565-3843 or 5342
National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
orphan@rarediseases.org
www.rarediseases.org
Tel: 203.744.0100 Voice Mail 800.999.NORD (6673)
Fax: 203.798.2291
Source: National Institutes of Health; National Institute of Neurological Disorders and Stroke
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This information is provided by the Cleveland Clinic and is not intended to replace the medical advice of your doctor or health care provider. Please consult your health care provider for advice about a specific medical condition. For additional written health information, please contact the Health Information Center at the Cleveland Clinic 216.444.3771 or toll-free 800.223.2273 extension 43771 or visit our Health Information webpages. This document was last reviewed on: 2/13/2007...#6040
