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.
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.
The characteristics of Joubert syndrome in infants include abnormally rapid breathing (hyperpnoea), 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 in those with the condition. These deformities include extra fingers and toes (polydactyly), cleft lip or palate, and tongue abnormalities. Kidney and liver abnormalities can develop, and seizures may also occur.
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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