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Smith-Magenis Syndrome, often called SMS, is like having a body clock that runs differently. People with SMS feel sleepy during the day and awake at night. They also may learn things at their own pace and have unique ways of understanding the world.
Can Smith-Magenis Syndrome be diagnosed at birth?
While the distinct facial features associated with Smith-Magenis Syndrome may be present at birth, a definitive diagnosis is usually made through genetic testing.
Are there any associated health conditions with Smith-Magenis Syndrome?
Yes, individuals with Smith-Magenis Syndrome may experience various health conditions such as recurrent ear infections, heart defects, gastrointestinal issues, and scoliosis.
Can Smith-Magenis Syndrome be inherited?
In most cases, Smith-Magenis Syndrome is not inherited but occurs as a result of a spontaneous genetic mutation. However, in rare instances, it can be inherited from a parent who carries a chromosomal rearrangement.
Do individuals with Smith-Magenis Syndrome have a normal lifespan?
While there is no specific data on life expectancy for Smith-Magenis Syndrome, with appropriate medical care and management of associated health conditions, individuals with this syndrome can live a fulfilling and meaningful life.
Smith-Magenis Syndrome (SMS) is a genetic disorder. It is typically caused by a tiny missing piece on one of the body’s chromosomes, specifically chromosome 17. This condition affects many parts of the body. Key features of SMS include a disrupted sleep-wake cycle, intellectual disability, distinctive facial features, and behavioral problems. Individuals with SMS often have a strong desire for social interaction, but their approach can sometimes be overly friendly or attention-seeking. It’s a complex syndrome with wide-ranging impacts, which can differ from person to person.
Smith-Magenis Syndrome shows itself in many ways. The signs can be different from one person to the next. Here’s a quick list of common symptoms:
Each person’s experience with SMS is unique. If you notice these signs, a health professional can guide you on what to do next.
Editor’s note: This information is not meant to diagnose or treat and should not take the place of personal consultation, as needed, with a qualified healthcare provider and/or BCBA.
This post was originally published on July. 11, 2023. It was updated on Jan. 22, 2024.
