Smith-Magenis Syndrome (SMS)

Smith-Magenis Syndrome (SMS) is a rare genetic condition characterized by intellectual disability, disrupted sleep patterns, facial abnormalities, and behavioral problems such as temper tantrums, aggression, impulsiveness, anxiety, and self-harm. Due to these symptoms, children with SMS may be diagnosed with ADHD, obsessive compulsive disorder, and/or mood disorders. Regarding their facial features, they have deep-set eyes, full cheeks, prominent jawlines, flat nose bridge, heavy eyebrows, full lips, and fleshy philtrum. Notably, they have excellent memory regarding specific details and trivia. Other cases present with scoliosis, hoarse voice, ear and eye abnormalities, heart conditions, and kidney defects. SMS is caused by the deletion of some genes in the short arm of the 17th chromosome. This was first described by Ann C. M. Smith, a genetic counselor, and R. Ellen Magenis, a pediatrician, cytogeneticist, and medical geneticist, in 1986.