Coffin-Lowry syndrome is a rare genetic disorder that primarily affects males. It is characterized by intellectual disability, distinctive facial features, and skeletal abnormalities. Individuals with Coffin-Lowry syndrome often have delayed development and learning difficulties, including speech and language delays. The severity of symptoms can vary, but affected individuals typically have moderate to severe intellectual disability.
One of the key features of Coffin-Lowry syndrome is the distinct facial appearance. This may include a prominent forehead, widely spaced and downward-slanting eyes, a wide nose, and a prominent jaw. Additionally, individuals with this syndrome may have skeletal abnormalities such as short stature, abnormal curvature of the spine, and abnormalities in the bones of the hands and fingers.
Coffin-Lowry syndrome is caused by mutations in the RPS6KA3 gene. This gene provides instructions for making a protein that is involved in cell signaling and regulation of gene expression. The mutations in this gene disrupt the normal functioning of the protein, leading to the characteristic features and symptoms of the syndrome.
Management of Coffin-Lowry syndrome involves a multidisciplinary approach, including early intervention and educational support to address developmental delays and intellectual disability. Genetic counseling may be beneficial for affected individuals and their families to understand the inheritance pattern and potential risks for future pregnancies.