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Affected children present with nonspecific features such as hypotonia, ataxia, and developmental delay.
Careful examination of the face shows a characteristic appearance: large head, prominent forehead, high rounded eyebrows,
epicanthal folds, ptosis, upturned nose with evident nostrils, open mouth, tongue protrusion and rhythmic tongue motions,
and, occasionally, low-set and tilted ears.
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Joubert Syndrome is a rare, genetic disorder that
affects the area of the brain that controls balance and coordination.The most common features of the disorder include ataxia,
an abnormal breathing pattern called hypernea, sleep apnea, abnormal eye and tongue movements, and hypotonia. Other malformations
such as extra fingers and toes, cleft lip or palate, tongue abnormalities, and seizures may also occur.
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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.
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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
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