The Smith-Magenis Syndrome Foundation is a small charity run by parents and professionals, our aim is to provide information and support to individuals interested in SMS. We also sponsor educational conferences for our members where families and professionals can meet and learn more about SMS. We aim to sponsor a conference every 18 to 24 months.
You have found the Mobile website for the Smith-Magenis Syndrome Foundation UK.
The Foundation is a registered UK charity, we have a professional advisory board comprising doctors, professionals and educators that are specifically interested in Smith-Magenis Syndrome (SMS) and have offered their services to the group
A SYNDROME is a specific pattern of physical, behavioral, 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 counselor, and Dr.
Ellen Magenis, a physician and chromosome expert.
A variety of unusual physical and behavioral 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 behavior
Problems, although some degree of self injury and sleep disturbance probably
Occurs in most.
Despite their sometimes difficult behaviors, 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)
Behaviors:
Hyperactivity
Head banging
Hand biting
Picking at skin, sores, nails
Pulling off fingernails and toenails
Explosive outbursts
Tantrums
Destructive and aggressive behavior
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 behavioral
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
Neurodevelopment Disorders: A Guide for Practice and Research.
To see this PDF 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
Contact Us
Smith-Magenis Syndrome Foundation
57 Allen Road
RushdenNorthants
NN10 ODY
Tel 01933 389951
E-Mail: smith-magenis@hotmail.co.uk
What Is SMS ?
