Joubert Syndrome

Joubert Syndrome

| Joubert Syndrome
What is Joubert Syndrome ?

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:

  1. Abnormal breathing patterns, including episodes of apnea (brief pauses in breathing)

  2. Delayed motor development, including difficulty with coordination, balance, and muscle control

  3. Intellectual disability or developmental delays

  4. Vision problems, including difficulty with eye movements and/or vision loss

  5. Kidney abnormalities

  6. Abnormalities of the fingers or toes, such as extra digits or fused digits


Treatment may include:

  1. Physical therapy and occupational therapy to improve mobility and daily living skills

  2. Speech therapy to improve communication and swallowing abilities

  3. Vision therapy to improve eye movements and visual function

  4. Management of breathing abnormalities, such as the use of a continuous positive airway pressure (CPAP) machine during sleep

  5. Management of kidney abnormalities, such as medication or surgical interventions as needed

  6. Management of other medical conditions associated with Joubert syndrome, such as seizures or scoliosis.

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