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About SMS

Smith-Magenis syndrome (SMS) was first reported in medical literature in 1982 by Ann Smith, a genetic counselor, and colleagues. In 1986, Smith and Dr. R. Ellen Magenis identified 9 patients with the disorder delineating the syndrome.

SMS is a rare neuro-developmental disorder that is most often caused by a small deletion of human chromosome 17p. In some rarer cases SMS is caused by a point mutation in the RAI1 gene which resides in the deleted region.

SMS is estimated to affect 1/15,000–25,000 births in the U.S. SMS is usually not inherited but rather is due to a de-novo deletion.

Patients with SMS present with a number of physical, mental and behavioral problems. It affects both males and females equally and has been reported across all ethnic groups.

One of the most common symptoms of SMS is a severe sleep disorder associated with significant disruptions in the lives of patients and their families 4-5

In addition to sleep disturbances, other major features of SMS include:

  • intellectual disability,
  • delayed speech and language skills,
  • distinctive facial features such as a broad, square-shaped face, flattened nose, deep-set eyes, full cheeks, a prominent lower jaw
  • behavioral problems such as frequent temper tantrums and outbursts, aggression, anxiety, impulsiveness, and difficulty paying attention
To find out more about potential treatment options for nighttime sleep disturbances in SMS or arrange for a genetic test
please sign up for a health educator to reach out to you or call 833.433.4331