Smith-Kingsmore Syndrome Awareness Day Date in the current year: August 15, 2025

Smith-Kingsmore syndrome (SKS) is caused by a mutation in the MTOR gene, which encodes a protein that influences cell growth and is critical for brain development. SKS-causing mutations are gain-of-function mutations, meaning they lead to hyperactivation of the gene. This results in the abnormal growth of neurons in the brain and leads to developmental delays, intellectual disability, seizures, and other symptoms. SKS is an autosomal dominant condition; only one mutated copy of the gene is necessary for the disorder to manifest. The mutation is usually spontaneous (de novo) rather than inherited.

SKS has many features that can vary in severity and change over time, so no two individuals with the condition are exactly alike. However, health professionals experienced in treating SKS patients have identified common features that can be grouped into four categories: neurological, physical, behavioral, and gastrointestinal.

Physical features are the most obvious, so let’s start with them. These include macrocephaly (large head size), a triangular face with a pointed chin, frontal bossing (a prominent forehead), a long medial cleft (the space between the nose and upper lip), a short nose with a flat bridge, and others. Other physical features include large birth weight, accelerated growth after birth, skin pigmentation, delayed or slightly advanced bone age, a high pain threshold, and issues with body temperature regulation.

Neurological features include intellectual disability ranging from mild to severe, developmental delays, sleep issues, seizures, low muscle tone, and hearing or visual impairment due to nerve or brain damage. Behavioral features of SKS include autism or autism-like traits, attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, self-harming behaviors, and speech problems. Some patients with SKS also experience gastrointestinal issues, including constipation, gastroesophageal reflux, abdominal pain, and hyperphagia (an abnormally strong appetite).

Currently, there is no cure or specific treatment for Smith-Kingsmore syndrome. Each patient’s treatment plan is specific to their symptoms and severity. Such a plan is usually developed by a multidisciplinary team of healthcare professionals. Depending on the symptoms, it may include pediatricians, geneticists, neurologists, sleep specialists, gastroenterologists, nutritionists, ophthalmologists, audiologists, orthopedists, psychologists, and other specialists.

Since most individuals with SKS have some degree of intellectual disability, they may benefit from special education, speech therapy, or occupational therapy. They may also require professional help to address behavioral issues.

Smith-Kingsmore Syndrome Awareness Day has been observed every August 15 since 2020. The day aims to raise awareness of this rare disorder, support families affected by SKS, and promote further research into the condition.