Coffin-Lowry syndrome is a rare genetic disorder that primarily affects males. It is estimated to occur in approximately 1 in 40,000 to 50,000 individuals worldwide. Although the prevalence may vary across different populations, it is generally considered to be a rare condition.
Coffin-Lowry syndrome is characterized by intellectual disability, distinctive facial features, and skeletal abnormalities. The severity of symptoms can vary widely among affected individuals, even within the same family. Intellectual disability is a hallmark of this syndrome, with most individuals having mild to moderate cognitive impairment.
The syndrome is caused by mutations in the RPS6KA3 gene, which provides instructions for making a protein involved in cell signaling. These mutations disrupt the normal functioning of the protein, leading to the characteristic features of Coffin-Lowry syndrome.
Due to its rarity, Coffin-Lowry syndrome often goes undiagnosed or misdiagnosed. Genetic testing is typically required to confirm the diagnosis. Early intervention and supportive care can help individuals with Coffin-Lowry syndrome reach their full potential and improve their quality of life.