Short answer · Medically reviewed summary · Last updated: 2023-07-13

Smith-Magenis Syndrome (SMS) is a rare genetic disorder characterized by a range of physical, cognitive, and behavioral features. It is caused by the deletion or mutation of a specific gene on chromosome 17.

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What is Smith Magenis Syndrome

What is Smith Magenis Syndrome? Plain-language, medically reviewed definition plus the lived reality told by patients.

What is Smith Magenis Syndrome

Smith-Magenis Syndrome (SMS) is a rare genetic disorder characterized by a range of physical, cognitive, and behavioral features. It is caused by the deletion or mutation of a specific gene on chromosome 17. Individuals with SMS typically exhibit distinctive facial features, such as a broad forehead, deep-set eyes, and a flat midface. They may also experience developmental delays, intellectual disability, and speech and language difficulties.

One of the hallmark features of SMS is the presence of behavioral abnormalities, including self-injurious behaviors, sleep disturbances, and hyperactivity. These behavioral challenges can significantly impact the daily lives of individuals with SMS and their families.

While there is no cure for SMS, early intervention and comprehensive management can help improve the quality of life for individuals with this syndrome. This may involve a multidisciplinary approach, including speech therapy, occupational therapy, and behavioral interventions. It is important for individuals with SMS to receive ongoing support and care from healthcare professionals, as well as understanding and acceptance from their families and communities.
Author: DiseaseMaps Editorial Team
Reviewed against authoritative medical sources (NIH GARD, Orphanet, OMIM)
Last updated: 2023-07-13
Medical disclaimer: This information does not substitute professional medical advice. Always consult your doctor before making health decisions.
Source: DiseaseMaps.org
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