Does My Child Have Joubert Syndrome?

Does your child experience abnormally rapid breathing (hyperpnea)?

Does your child experience decreased muscle tone (hypotonia)?

Does your child make abnormal eye movements?

Does your child have an impaired intellectual development?

Does your child show an inability to coordinate voluntary muscle movements (ataxia)?

Does your child have physical deformities (such as extra fingers and toes, cleft lip or palate, and tongue abnormalities)?

Does your child have kidney and/or liver abnormalities?

Does your child have seizures?

Based on your answers, it is unlikely that your child has Joubert syndrome. Joubert syndrome is a disorder of brain development. Signs and symptoms may vary, but most of the time they include weak muscle tone (hypotonia), abnormal breathing patterns and eye movements, ataxia and intellectual disability. There may be various other abnormalities present, such as distinctive facial features (e.g., widely spaced eyes, broad forehead, arched eyebrows). Treatment for this condition is supportive and depends on the symptoms.

Based on your answers, your child may be displaying one or more symptoms related to Joubert syndrome. Joubert syndrome is an autosomal recessive genetic disorder. The disorder may affect many parts of the body. The cerebellar vermis (a part of the brain that controls balance and coordination) is underdeveloped and the brain stem (connection between brain and spinal cord) is malformed. Signs and symptoms may vary, but most of the time they include weak muscle tone (hypotonia), abnormal breathing patterns and eye movements, ataxia and intellectual disability. It may be important to take your child to the doctor if he or she is displaying signs of Joubert syndrome.

Unfortunately, your child is displaying several symptoms typically seen among individuals who have Joubert syndrome. It may be important to take him or her to a mental health professional for the right advises. Joubert syndrome is an autosomal recessive genetic disorder. The diagnosis of Joubert syndrome is based on the presence of characteristic clinical features and on the results of an MRI (evidence for abnormal brain development). Developmental problems are usually managed with physical therapy, speech therapy and occupational therapy. It is also recommended to get your child screened for liver, kidney, and retinal abnormalities. Besides, genetic counselling is important for the patients and their families.