Joubert Syndrome
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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?
What is the prognosis?
What research is being done?
Select this link to view a list of studies currently seeking patients.
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 |
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Last updated September 09, 2008