Joubert Syndrome is a condition caused by a malformation of the brain. The condition can be passed from parents to children. In order for the condition to be inherited, parents must possess multiple recessive mutated genes, including CEP290, AHI1 and NPHP1. Not all cases of Joubert Syndrome are attributed to inheritance.
Who is at Risk?
If both parents carry the mutated genes responsible for Joubert Syndrome, children have a higher risk of developing the condition. However, mutated genes can occur in patients born to parents without mutated genes.
Symptoms of Joubert Syndrome range from mild to severe and may include:
- Hyperpnea – rapid breathing
- Hypotonia – decreased muscle tone
- Oculomotor apraxia – rapid, jerky eye movement
- Ataxia – inability to control muscle movements
- Polydactyly – Extra toes or fingers
- Cleft lip
- Cleft palate
- Mental retardation
Doctors base the diagnosis for Joubert Syndrome on a variety of factors, including presence of one or more symptoms and the results of a brain scan. Joubert Syndrome is characterized by a malformation of the brain stem and underdevelopment of the cerebellar vermis. Both conditions are recognizable via scan.
Patients with Joubert Syndrome are treated for symptom relief. There is no cure for the condition. Once the condition is diagnosed, patients will undergo testing to gauge the progressive of the syndrome throughout life. Joubert Syndrome may affect the liver, heart, eyes and kidneys. Some infants and children respond well to physical therapy and speech therapy.
Research and development of new treatments for Joubert Syndrome is currently underway. The National Institutes of Neurological Disorders and Stroke, in conjunction with the National Institutes of Health Office of Rare Disorders work together on research regarding Joubert Syndrome and possible treatments.
Parents of children with the disorder may find help and support through the Joubert Syndrome Foundation & Related Cerebellar Disorders or the National Organization for Rare Disorders.
Prognosis for children with Joubert Syndrome depends on the severity of the condition. In some cases, the cerebellar vermis is almost fully developed, resulting in mild symptoms. The mildest form of the disease often results in mild lapses in motor control and mild mental retardation. These patients can live full, productive lives with medical and familial support.
On the opposite end of the spectrum is a severe form of the disorder, often related to a missing cerebellar vermis. In these cases the symptoms are more severe, including moderate mental retardation and severe motor difficulties. Severe cases, if not treated promptly, may result in early death. Early death may be associated with impaired organ function.