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), decreased muscle tone (hypotonia), jerky eye movements (oculomotor apraxia), mental retardation, and the inability to coordinate voluntary muscle movements (ataxia). Physical deformities may be present, such as extra fingers and toes (polydactyly), cleft lip or palate, and tongue abnormalities. Kidney and liver abnormalities can develop, and seizures may also occur.. Most cases of Joubert syndrome are sporadic (not inherited). In some families, however, Joubert syndrome appears to be inherited in an autosomal recessive manner (meaning both parents must have a copy of the mutation) via mutation in a number of genes, including NPHP1, AHI1, and CEP290.
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. Screening for progressive eye, liver,
and kidney complications associated with Joubert-related disorders should be performed on a regular basis.
The prognosis for infants with Joubert syndrome depends on whether or not the cerebellar vermis is partially developed or
entirely absent. 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.
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 2002. Research priorities for the disorder
were outlined at this meeting.
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 16, 2008