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.
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.
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.
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.