Self-harm, including biting, hitting, head banging, and skin picking, is very common. Behavioral complications in Smith-Magenis syndrome are thought to be worsened by issues with sleeping. Repetitive self-hugging is a behavioral trait that may be unique to Smith–Magenis syndrome. People with this condition may also compulsively lick their fingers and flip pages of books and magazines (a behavior known as "lick and flip"), as well as possessing an impressive ability to recall a wide range of small details about people or subject-specific trivia.Other symptoms can include short stature, abnormal curvature of the spine (scoliosis), reduced sensitivity to pain and temperature, and a hoarse voice. Some people with this disorder have ear abnormalities that lead to hearing loss. Affected individuals may have eye abnormalities that cause nearsightedness (myopia), strabismus, and other problems with vision. Heart and kidney defects also have been reported in people with Smith–Magenis syndrome, though they are less common. Genetics
Smith–Magenis syndrome is a chromosomal condition related to low copy repeats of specific segments of chromosome 17. Most people with SMS have a deletion of genetic material from a specific region of chromosome 17 (17p11.2). Although this region contains multiple genes, recently researchers discovered that the loss of one particular gene the retinoic acid induced 1 or RAI1 is responsible for most of the characteristic features of this condition. Also, other genes within the chromosome 17 contribute to the variability and severity of the clinical features.
Children with SMS are often given psychiatric diagnoses such as autism, attention deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), attention deficit disorder (ADD) and/or mood disorders. Treatment
Treatment for Smith–Magenis syndrome relies on managing its symptoms. Children with SMS often require several forms of support, including physical therapy, behaviour therapy, occupational therapy and speech therapy. Support is often required throughout an affected persons lifetime. Medication is often used to address some symptoms. Melatonin supplements and trazodone are commonly used to regulate sleep disturbances. In combination with exogenous melatonin, blockade of endogenous melatonin production during the day by the adrenergic antagonist acebutolol can increase concentration, improve sleep and sleep timing and aid in improvement of behaviour. Other medications (such as risperidone) are sometimes used to regulate violent behavior. Eponym
The eponym Smith–Magenis refers to two scientists who described the condition in 1986, namely, Ann C. M. Smith, a genetic counselor at the National Institutes of Health, and R. Ellen Magenis, a pediatrician, medical geneticist and cytogeneticist at the Oregon Health Sciences University. See also
Serine hydroxymethyltransferase
Charcot-Marie-Tooth disease
Potocki-Lupski syndrome
Prader-Willi syndrome

References

This article incorporates public domain text from The U.S. National Library of Medicine


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