Joubert syndrome
| Joubert syndrome | |
|---|---|
| Other names | CPD IV[1] |
| 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[2] |
| Frequency | Between 1:80,000 and 1:100,000[3] |
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.[4] 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.[5]
- ^ "Orphanet: Joubert syndrome". www.orpha.net. Retrieved 24 October 2019.
- ^ "Orphanet: Joubert syndrome". www.orpha.net. Retrieved 2024-06-11.
- ^ "Joubert syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 2024-06-11.
- ^ Saraiva JM, Baraitser M (July 1992). "Joubert syndrome: a review". American Journal of Medical Genetics. 43 (4): 726–31. doi:10.1002/ajmg.1320430415. PMID 1341417.
- ^ Joubert M, Eisenring JJ, Robb JP, Andermann F (September 1969). "Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation". Neurology. 19 (9): 813–25. doi:10.1212/wnl.19.9.813. PMID 5816874.