Joubert Syndrome - Causes, Symptoms & Treatment

Joubert Syndrome is a rare, genetic disorder that affects the area of the brain that controls balance and coordination. Joubert syndrome is a rare neurological condition characterised by developmental delay, floppiness , lack of muscle control (ataxia) and difficulty controlling horizontal eye movements (oculomotor apraxia). 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 ). This is a very serious disorder that affects children.  Joubert syndrome affects about one in 100,000 children — approximately 40 babies per year in the United States.  It includes an absence of the cerebellar vermis, or the midline of the cerebellum, and an unusual brainstem feature called the “molar tooth sign” (because it looks like a tooth) that can be seen in brain scans. This can lead to impaired attention, visual, spatial, motor, language and social functional skills.