Smith-Magenis Syndrome

  • Smith-Magenis syndrome is a rare genetic disease (1/25,000) clinically identifiable and characterised by the following signs: particular profile, small cranio-facial and skeletal defects, language and expression problems, delays in growth and harm to psycho- motor skills and unusual behaviour. This phenotype includes chronic sleep disorders. The lessening of nocturnal sleep is almost universal, which represents a major challenge for the patient and his family. The majority of patients (more than 95%) have an interstitial deletion on the 17th chromosome (band 17p11.2). In a few cases mutations at the level of the RAI1 gene have also been reported.
  • One of the factors likely to contribute to sleep disorders is the deregulation of the secretion of a hormone, melatonin, which reverses the circadian rhythm of sleep. In this disease, the secretion of melatonin is higher in the day and lower at night, which is the opposite of normal. The causes of this secretion of melatonin during the day are unknown. Currently there is no effective treatment for sleep disorders in Smith-Magenis patients. A study is underway to test if a melatonin treatment will correct sleep disorders in the patients.

+ Further information can be found on the Jérôme Lejeune Institute website

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