Joubert syndrome (JS): clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Joubert syndrome (JS): clinical features. Joubert’s syndrome is a ciliopathy. Fully referenced neurology checklist.
Genetics and pathology
- Joubert’s syndrome is a ciliopathy
- There is absence of decussation of the superior cerebellar commissural fibers
- The transmission is autosomal recessive
Clinical classification
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Neurological features
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Cranial and ocular features
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Cardiorespiratory features
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Abdominal features
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Associated features
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References
- Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet J Rare Dis 2010; 5:20.
- Ben-Salem S, Al-Shamsi AM, Gleeson JG, Ali BR, Al-Gazali L. Mutation spectrum of Joubert syndrome and related disorders among Arabs. Hum Genome Var 2014; 1:14020.
- López Ruiz P, García García ME, Dicapua Sacoto D, Marcos-Dolado A. Uncrossed epileptic seizures in Joubert syndrome. BMJ Case Rep 2015; pii: bcr2014207719.
- Mugundhan K, Mayan MCV, Nidhin PD, Loganathan G, Balamurugan N. Joubert syndrome associated with seizures. J Assoc Physicians India 2017; 65:96.
- Poretti A, Christen HJ, Elton LE, et al. Horizontal head titubation in infants with Joubert syndrome: a new finding. Dev Med Child Neurol 2014; 56:1016-1020.
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