En Español | Plain Text Version | Skip Navigation

You are here:  Home > Disorders > Joubert Syndrome

NINDS Joubert Syndrome Information Page

Skip secondary menu


Table of Contents (click to jump to sections)
What is Joubert Syndrome?
Is there any treatment?
What is the prognosis?
What research is being done?

Organizations
Related NINDS Publications and Information

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.

Select this link to view a list of studies currently seeking patients.

Organizations

Joubert Syndrome Foundation & Related Cerebellar Disorders
2481 Orangewood Place
Simi Valley, CA   93065
info@jsfrcd.org
http://www.jsfrcd.org
Tel: 805-527-1007

 The Arc of the United States
1010 Wayne Avenue
Suite 650
Silver Spring, MD   20910
Info@thearc.org
http://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
http://www.rarediseases.org
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

  
Related NINDS Publications and Information


Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Return to top

Last updated September 09, 2008