Joubert syndrome

Joubert syndrome is a rare genetically determined disorder affecting the central nervous system, more specifically the cerebellum. The cerebellum is a part of the brain located in the posterior region (occipital area) and is primarily responsible for the proper targeting and coordination of movements.

The cause of the syndrome consists of various congenital genetic mutations that either arise de novo in the individual or are inherited from one of the parents (a carrier of the disease).

Joubert syndrome has multiple forms; some are relatively mild, while others cause severe disability.

Symptoms

Cerebellar dysfunction may result in impaired coordination of movements and disturbances in psychomotor development during childhood. In some children, intellectual disability is present, while others have an increased risk of developing epileptic seizures. In some cases, brainstem function may also be impaired, which can lead to respiratory disturbances. Children with Joubert syndrome are prone to sleep apnea syndrome, meaning they may stop breathing during sleep. Additional abnormalities have been described, such as cleft palate and limb deformities, and relatively often, polydactyly (extra digits) has been reported on both the upper and lower limbs.

Diagnosis

The diagnosis of Joubert syndrome may be considered when some of the above symptoms are present; however, the disease is so rare that establishing the correct diagnosis is very difficult. The disease may be inherited within families; therefore, when its occurrence is known, transmission of the gene may be expected.

Treatment

The condition is congenital and cannot be cured. Therefore, therapy is only symptomatic and focuses on physical rehabilitation, special education, and the training of movement patterns in an effort to ensure the highest possible quality of life for the affected individual.

• impaired coordination of movements
• disturbance of psychomotor development
• epileptic seizures
• presence of intellectual disability (in some children
• cleft palate
• limb deformities
• polydactyly (extra digits) on the limbs