You have found the  Mobile website for the Smith-Magenis Syndrome Foundation in the UK.

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

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.

What Is SMS ?

Contact Us

 

Smith-Magenis Syndrome Foundation

 

57 Allen Road

RushdenNorthants

NN10 ODY

 

Tel     01933 389951

E-Mail:  smith-magenis@hotmail.co.uk

 

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