What is Fragile X Syndrome?

Fragile X Syndrome is the most common genetic cause of intellectual disability, affecting approximately one in 3,600 males and one in 4,000 to 6,000 females. It is estimated that one in 250 females and one in 800 males are carriers of a mutation in the Fragile X gene. While carriers may or may not have symptoms, their children and grandchildren are at risk of having Fragile X Syndrome. All ethnic, racial and socio-economic backgrounds are affected.

Symptoms of Fragile X are variable. Learning problems can range from mild learning disabilities to severe mental retardation. Behavior problems can range from mild attention difficulties to severe autistic symptoms. Some individuals with Fragile X Syndrome may have only the typical facial features associated with the condition, while others may have heart, bone and muscle problems.

Diagnosis, targeted treatments and supportive care are essential to maximize function of the child and family.