Smith Magenis Syndrome (SMS) is a rare genetic disorder characterized by a deletion or mutation in the Rai1 gene. It affects an estimated 1 in 15,000 to 25,000 individuals worldwide, making it relatively uncommon. SMS is associated with a range of physical, cognitive, and behavioral features, including intellectual disability, sleep disturbances, distinctive facial features, and behavioral challenges. While the prevalence of SMS is relatively low, it is important to provide support and resources for individuals and families affected by this syndrome.
Smith Magenis Syndrome (SMS) is a rare genetic disorder characterized by a variety of physical, cognitive, and behavioral features. It is estimated to affect approximately 1 in 15,000 to 25,000 individuals worldwide, making it a relatively uncommon condition.
The syndrome is caused by a deletion or mutation in a specific region of chromosome 17, which leads to the disruption of normal development and functioning of various body systems. Individuals with SMS typically exhibit distinctive facial features, intellectual disability, delayed speech and language development, sleep disturbances, and behavioral issues such as self-injurious behaviors and aggression.
While the prevalence of SMS may vary across different populations, it is generally considered to be a rare disorder. Due to its rarity, diagnosis and awareness of SMS can be challenging, leading to potential underdiagnosis or misdiagnosis. Early identification and intervention are crucial in managing the symptoms and providing appropriate support for individuals with SMS and their families.