Copyright (c) 2007 Grace Riddell
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.
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.
low muscle tone in infancy
feeding problems in infancy
flat facial features
prominent jaw in older children and adults
abnormalities of the palate, with or without cleft lip
unusually formed ears
chronic ear infections
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)
picking at skin, sores, nails
pulling off fingernails and toenails
destructive and aggressive behaviour
arm hugging / hand squeezing when excited
Information copied from the Smith-Magenis Syndrome Foundation