Joubert Syndrome is a rare genetic disorder affecting a part of the brain called the cerebellar vermis and the brain stem.
Joubert Syndrome may also be accompanied by liver, renal and/or retinal symptoms.
Polydactyly – extra fingers or toes, encephalocele and hormone abnormalities may also occur.
Joubert Syndrome is diagnosed via a brain scan – an MRI which will show a specific finding called the ‘molar tooth sign’ which shows the cerebellar vermis is absent or underdeveloped and the brain stem is abnormal.
The most common features are lack of muscle control (ataxia), abnormal breathing patterns (hyperapnea), sleep apnea, abnormal eye and tongue movements and low muscle tone.
The cerebellar vermis controls balance and co-ordination and the brain stem is the connection between the brain and spinal cord, it regulates heart rate, breathing, sleeping, temperature and eating.
Kidney Diseases associated with Joubert Syndrome are nephronophthisis and polycystic kidneys.
Eye Abnormalities include retinitis pigmentosa, coloboma, nystagmus, strabismus and ptosis.