Joubert syndrome is a condition in which many parts of the body can get affected. The symptoms of this syndrome can vary among individuals. However, the most prominent feature of this syndrome is a brain abnormality which is known as molar tooth sign that can be visible during the various tests conducted on the brain like, magnetic resonance imaging (MRI). This sign shows up as a result of abnormal development near the backside of the brain known as cerebellar vermis and the brainstem. The name molar tooth was given because the abnormalities in the brain are identical with the cross-section of a molar tooth.
The syndrome has affected approximately between 1 in 80,000 and 1 in 1,00,000 infants. These figures may be higher because there are many possible features of the syndrome which are most likely to remain undiagnosed.
The syndrome usually has an autosomal recessive pattern of inheritance. This implies that both the copies of a gene in each cell have mutations. When the parents of an infant have an autosomal recessive condition, each one carry a copy of the mutated gene. However, none of them shows the signs and symptoms of the syndrome.
The treatment of Joubert syndrome is usually symptomatic and supportive. Infant stimulation and physical, speech and hearing therapy may help some of the patients. Infants who suffer from abnormal breathing problems must be kept under observation.
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Read more on Joubert Syndrome Treatment.
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