Smith-Magenis Syndrome (SMS)

What is Smith-Magenis Syndrome (SMS)?
Smith-Magenis Syndrome (SMS) is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems. More information about Smith-Magenis Syndrome (SMS) may be found on the NIH’s website: https://rarediseases.info.nih.gov/diseases/8197/smith-magenis-syndrome 

What is the prevalence of Smith-Magenis Syndrome (SMS)?
Smith-Magenis syndrome (SMS) is a rare (1/25,000) clinically recognizable syndrome.

How is Smith-Magenis Syndrome (SMS) diagnosed?
The diagnosis of Smith-Magenis Syndrome (SMS) is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized genetic tests, especially involving chromosome 17. 

Is there any specific gene/pathway in Smith-Magenis Syndrome (SMS) that has been identified?
Most people with SMS have a deletion of genetic material in each cell from a specific region of chromosome 17. In about 10% of cases, SMS is caused by a mutation in the RAI1 gene.

How is Smith-Magenis Syndrome (SMS) treated?
Treatment of Smith-Magenis Syndrome (SMS) is symptomatic and supportive. Services that may be beneficial include special remedial education, speech/language therapy, physical therapy, occupational therapy, and sensory integration therapy, in which certain sensory activities are undertaken in order to help regulate a child’s response to sensory stimuli. More information on treatment may be found here: https://rarediseases.org/rare-diseases/smith-magenis-syndrome/. 

Are there any clinical trials underway for Smith-Magenis Syndrome (SMS)?
The National Institutes of Health (NIH) has completed 7 clinical trials for Smith-Magenis Syndrome (SMS). Currently, there are 6 clinical trials underway for the condition. More information on future studies and patient recruitment can be found here: https://clinicaltrials.gov/ct2/results?cond=Smith-Magenis&term=&cntry=&state=&city=&dist

How can RareShare be helpful to Smith-Magenis Syndrome (SMS) patients and families?
The Smith-Magenis Syndrome (SMS) Rareshare community has 4 members. There are currently 0 active discussions underway. New discussions can help to connect patients, health workers, caregivers and families interested in SMS and provide them continual access to community resources.

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