What are the complications of Fragile X Syndrome?

Although people with fragile X syndrome typically have a normal life span, they are prone to developing a number of medical conditions such as seizures, ear infections, heart valve abnormalities and lazy eye. Regular medical checkups are necessary for prevention and early diagnosis of such conditions for intervention and treatment. Seizures Seizures are caused by a sudden surge of an abnormally excessive amount of neuronal activity in the brain. It often affects how a person acts for a short period of time, and the symptoms can vary in severity depending on the type of seizure involved. Ear infections (otitis media) Ear infections can be serious and may cause hearing loss if left untreated. Treatment options involve antibiotics or draining fluids by inserting tubes into the ear. Mitral valve prolapse (MVP) Heart valve abnormalities such as mitral valve prolapse can develop due to weak connective tissues. It is a common cause of a heart murmurs due to a valve that could not close properly. Lazy eye Strabismus, a misalignment of the eyes, can cause amblyopia (lazy eye) in children. When the eyes are in different orientations, the brain gathers two different visual images, and it can choose to ignore the image from the problematic eye to avoid double vision. This results in poor vision development of the problematic eye, leading to amblyopia. Other complications related to joints and connective tissues are possible. For example, dysplasia, joint problems and flat feet can occur due to weak connective tissue development. Hernias and scoliosis could also occur. People with fragile X syndrome may also develop depression due to their inability to express themselves properly through speech and language. References: Fragile X-associated Disorders. National Fragile X Foundation Saul RA, Tarleton JC (1998, Updated 2012 Apr 26). FMR1-Related Disorders. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews®