Smith-Magenis Syndrome: A Complex Developmental Disorder

Affecting multiple organ systems of the body, Smith-Magenis Syndrome (SMS) is a congenital developmental disorder. At Grinning with Gavin, we spread awareness of this condition and raise funding for research and development that aim to provide affected individuals with a better quality of life.

How SMS Develops

SMS is a nonfamilial disorder resulting from a 17p11.2 deletion. This means that a genetic material within the 17th chromosome, the RAI1 gene, is missing. The loss or microdeletion is believed to contribute to the development of the disorder.

Diagnosing SMS

An SMS diagnosis is based on the identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation, and a variety of specialized genetic tests. The findings are confirmed if a 17p11.2 deletion is detected through cytogenetic analysis or microarray analysis, or if a RAI1 gene mutation is identified.

Symptoms and Characteristics

The disorder manifests through a pattern of abnormalities, along with behavioral and cognitive problems since birth. SMS further causes cognitive impairments, physical limitations, emotional outbursts, tantrums, self-injury behavior, and chronic sleep disruptions.

The Impact of SMS

SMS was identified in 1982. While it affects 1 in 15,000 live births, many go undiagnosed. The SMS Research Foundation has been working to find ways to improve the solutions and options available to individuals living with SMS.

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