Quick Facts:
SMS AFFECTS PEOPLE OF ALL AGES:
1 in 25,000
Live Births Are Affected by SMS
Understanding
Smith-Magenis Syndrome
SMS is a non-familial chromosomal disorder that is the result of a missing piece of genetic material within the 17th chromosome, known as a microdeletion, and referred to as deletion 17p11.2. This deleted portion within chromosome 17p11.2 includes the RAI1 gene, which is believed to play a major role in the development of the disorder.
Smith-Magenis Syndrome was identified only in 1982 and the SMS Research Foundation is working tirelessly to fund research to improve the treatment options and the lives of SMS children. A diagnosis of Smith-Magenis syndrome is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation, and a variety of specialized genetic tests. The diagnosis of SMS is confirmed when deletion 17p11.2 (cytogenetic analysis or microarray) or RAI1 gene mutation is identified.
Typical Features of SMS:
- Varying degrees of cognitive impairment
- Development delay (low muscle tone, late walkers and talkers)
- Oral-motor dysfunction (feeding issues as infants, poor articulation, hyper- or hypo-sensitivity to food textures)
- Eye problems including strabismus and myopia
- Frequent nighttime and/or early morning awakenings /daytime sleepiness
- Chronic ear infections
- Broad gait/short fingers and toes
- Decreased sensitivity to pain
- Hyperactivity/ADD
- Impulsivity
- Aggression
- Attention-seeking behavior
- Easily excitable and distracted
- Self-injury (including head-banging and hand-biting)
- Sudden mood changes and explosive outbursts
- Frequent and sometimes prolonged tantrums
Your support is critical for furthering research of Smith-Magenis Syndrome and better understanding this rare, genetic disease. Please consider getting involved or making a donation by clicking the link below:
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