Stewart-Morel Syndrome (SMS) is an inherited genetic disorder characterized by global developmental delays, facial dysmorphism, and characteristic physical features. It is a rare disorder, first described in the medical literature by Stewart and Morel in 1972 (Stewart & Morel, 1972).
SMS is caused by a mutation in the gene called NAA15, located on the long arm of chromosome 14 (14q11.2-q13.1). This gene encodes for a protein that plays a role in the regulation of gene expression (Wang et al., 2014). Individuals with SMS typically present with developmental delays, including delays in gross motor skills, fine motor skills, language, and social skills. They may also have facial dysmorphism, such as a broad forehead, widely spaced eyes, a short nose, a wide mouth, and a long philtrum (Miyamoto et al., 2018). In addition, they may have a variety of physical features, such as joint laxity, low muscle tone, and scoliosis (Stewart & Morel, 1972).
The diagnosis of SMS is based on clinical features and the presence of a pathogenic mutation in the NAA15 gene. Molecular genetic testing is available to detect the presence of a pathogenic mutation in the NAA15 gene. However, due to the rarity of the disorder, there is currently no specific treatment for SMS (Miyamoto et al., 2018).
In conclusion, Stewart-Morel Syndrome is a rare inherited genetic disorder characterized by global developmental delays, facial dysmorphism, and physical features. It is caused by a mutation in the NAA15 gene located on chromosome 14. Due to the rarity of the disorder, there is currently no specific treatment for SMS.
References
Miyamoto, T., Taniguchi, K., Takahashi, T., Takemoto, T., Inoue, M., & Takata, A. (2018). Stewart–Morel syndrome: A case report with review of the literature. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 176(1), 312–316. https://doi.org/10.1002/ajmg.c.31546
Stewart, C. L., & Morel, A. (1972). Syndrome of developmental delay, facial dysmorphism, and normal chromosome analysis. Pediatrics, 49(4), 659–664.
Wang, Y., Ouyang, Y., Zhang, Z., Li, Y., Zhang, X., & Zhang, Y. (2014). Identification of a novel NAA15 gene mutation in a Chinese family with Stewart–Morel syndrome. Clinical Dysmorphology, 23(2), 73–75. https://doi.org/10.1097/MCD.0000000000000022