Coffin-Lowry syndrome is a rare genetic disorder that causes intellectual and developmental disabilities, as well as physical deformities. The syndrome is caused by a mutation in one of the genes responsible for making a protein that plays an important role in brain development and memory.
Men with Coffin-Lowry syndrome are typically more strongly affected than women with the syndrome. These men typically have severe to profound mental retardation, while women with Coffin-Lowry syndrome can be of normal intellect or be just slightly delayed. Sufferers of both sexes usually have unique physical features, including large foreheads, wide eyes that slant downward, short noses, wide mouths, small heads and soft hands with short fingers. These physical features often become more obvious with age. They are usually short and may have scoliosis. Beginning in childhood and adolescence, loud noises can cause people with Coffin-Lowry syndrome to collapse briefly.
About 70 to 80 percent of people with Coffin-Lowry syndrome have no other family member with the disease. Though the exact number of people affected by Coffin-Lowry syndrome is not known, it is thought to be approximately one in every 40,000 to 50,000 live births.
While there is no cure for Coffin-Lowry syndrome, treatments such as educational, physical and speech therapy can help control the symptoms in many cases. Depending on the symptoms and severity, psychiatric medications may be prescribed. If your child has Coffin-Lowry syndrome, regular checkups with a team of physicians will help you and your family manage the condition and ensure the best possible quality of life. In many cases, people with the syndrome can have a normal lifespan.