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), 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.
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.
Screening for progressive eye, liver, and kidney complications associated with
Joubert-related disorders should be performed on a regular basis.
What is the prognosis?
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.
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 2002. Research priorities for the disorder were outlined at this meeting.
Organizations
Joubert Syndrome Foundation & Related Cerebellar Disorders
2481 Orangewood Place
Simi Valley, CA 93065
info@jsfrcd.org
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
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. This document was last reviewed on: 9/16/2008…#6040
