Joubert syndrome
| Joubert syndrome | |
|---|---|
| Other names | CPD IV |
| Photo of the person with Joubert syndrome, with hypertelorism, ptosis, arched eyebrows, and a broad forehead. Also, Duane syndrome can be seen. | |
| Specialty | Medical genetics |
| Differential diagnosis | Dandy–Walker malformation, ataxia with oculomotor apraxia, 3C syndrome, Meckel–Gruber syndrome |
| Frequency | Between 1:80,000 and 1:100,000 |
Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.
Joubert syndrome is one of the many genetic syndromes associated with syndromic retinitis pigmentosa. The syndrome was first identified in 1969 by pediatric neurologist Marie Joubert in Montreal, Quebec, Canada, while working at the Montreal Neurological Institute and McGill University.