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.
Normally, the cerebellum (an area at the back of the brain which is important for balance and co-ordination) has two interconnected halves or hemispheres. In Joubert syndrome the connection between the two halves, known as the cerebellar vermis, fails to develop.
Characteristic of Joubert Syndrome can Include:
Decreased muscle tone, especially in infancy.
Seizures.
Learning difficulties.
Abnormal development of the retina in the eye, or the iris.
Deformities such as, extra fingers and toes, cleft lip or palate, abnormalities of the tongue.
Kidney cysts.
Abnormal, jerky eye movements.
Delayed motor and intellectual development.
The prognosis for individuals with Joubert syndrome varies. Some patients have a mild form with minimal motor disability and good mental development, while others may have severe motor disability and moderate mental retardation.
Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some patients. Infants with abnormal breathing patterns should be monitored.
Joubert syndrome is more likely to occur in consanguineous families, where the parents are related, and where the faulty gene runs in the family.
Alphabetical list of Neurological Disorder Definitions.
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