Coffin-Lowry Syndrome

Coffin-Lowry Syndrome

Coffin-Lowry syndrome is a genetic disorder characterised by intellectual disability, skeletal abnormalities, and facial features such as a prominent forehead. Caused by mutations in the RPS6KA3 gene, Coffin-Lowry syndrome primarily affects males, while females often present milder symptoms. Supportive therapies help to manage Coffin-Lowry syndrome.