The Smith-Magenis Syndrome Foundation

The Smith-Magnenis Syndrome Foundation


	What is Smith-Magenis Syndrome? A SYNDROME is a specific pattern of physical, behavioural, and developmental features which occur together in a person due to a single underlying cause. Smith-Magenis Syndrome (SMS) is associated with a missing section (called a deletion) of chromosome 17. The first group of children with this deletion was described in the 1980’s by Ann Smith, a genetic counsellor, and Dr. Ellen Magenis, a physician and chromosome expert. A variety of unusual physical and behavioural characteristics have been found in people with SMS. What are the Features of SMS? An individual with SMS may have just a few or many of the features outlined below. Some individuals with SMS may never show significant behaviour problems, although some degree of self injury and sleep disturbance probably occurs in most. Despite their sometimes difficult behaviours, most children and adults with SMS are very appealing and affectionate, and have much untapped potential. Clinical Features: developmental delay learning disability mental retardation low muscle tone in infancy feeding problems in infancy short stature flat facial features prominent jaw in older children and adults abnormalities of the palate, with or without cleft lip down-turned mouth unusually formed ears chronic ear infections hearing impairments eye problems including: strabismus (squint), nearsightedness short fingers and toes heart defects and murmurs urinary system problems scoliosis (curvature of the spine) unusual gait (walking pattern) sleep problems (frequent awakenings) Behaviours: hyperactivity head banging hand biting picking at skin, sores, nails pulling off fingernails and toenails explosive outbursts tantrums destructive and aggressive behaviour excitability arm hugging / hand squeezing when excited Dr Orlee Udwin has written an excellent report for the group which: “will briefly discuss the genetic underpinnings, physical features and natural history of Smith-Magenis syndrome, and the cognitive and behavioural characteristics associated with the condition in childhood, and then go on to explore their long-term course, their effects on adjustment in adulthood and implications for support and intervention for affected individuals across the life span”. This is reprinted with the kind permission of Cambridge University Press from the chapter by UDWIN, O. (2003) Williams Syndrome and Smith-Magenis Syndrome: Outcomes in adulthood and implications for intervention. In Howlin, P. and Udwin, O. (Eds.) Outcomes in Children with Specific Neurodevelopmental Disorders: A Guide for Practice and Research. To download this PDF format report, please click here. Research and a more detail can be found on a US site for Parents and Researchers Interested in Smith-Magenis Syndrome: www.prisms.org