Joubert syndrome is a rare genetic disorder that affects the development of the brainstem and cerebellum, the parts of the brain that control coordination and balance. It is a type of ciliopathy, which means it is caused by defects in cilia, small hair-like structures on the surface of cells that play a role in cell signaling and movement.
Joubert syndrome is characterized by a distinctive malformation of the brainstem, known as the "molar tooth sign" due to its shape on imaging studies. This sign is not always present in individuals with Joubert syndrome, however, and not all individuals with this sign have Joubert syndrome.
Symptoms of Joubert syndrome may vary depending on the severity of the condition, but may include:
Abnormal breathing patterns, including episodes of apnea (brief pauses in breathing)
Delayed motor development, including difficulty with coordination, balance, and muscle control
Intellectual disability or developmental delays
Vision problems, including difficulty with eye movements and/or vision loss
Kidney abnormalities
Abnormalities of the fingers or toes, such as extra digits or fused digits
Treatment may include:
Physical therapy and occupational therapy to improve mobility and daily living skills
Speech therapy to improve communication and swallowing abilities
Vision therapy to improve eye movements and visual function
Management of breathing abnormalities, such as the use of a continuous positive airway pressure (CPAP) machine during sleep
Management of kidney abnormalities, such as medication or surgical interventions as needed
Management of other medical conditions associated with Joubert syndrome, such as seizures or scoliosis.