What is SMS?

Smith-Magenis Syndrome is a complex developmental disorder that affects multiple organ systems of the body. The disorder is characterized by a pattern of abnormalities that are present at birth (congenital) as well as behavioral and cognitive problems.

Quick Facts:

SMS AFFECTS PEOPLE OF ALL AGES:

SMS affects people of all ages

1 in 15,00 live births are affected by SMS

1 in 15,000
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

Typical Features of SMS

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: