pediatrics
Fragile X Syndrome
Symptoms and Signs of Fragile X Syndrome
People with Fragile X syndrome may have physical, cognitive, and behavioral abnormalities. Typical features include large, protuberant ears, a prominent chin and forehead, a high arched palate, and, in postpubertal males, macroorchidism. The joints may be hyperextensible, and heart disease ( Mitral Valve Prolapse (MVP) ) may occur. Cognitive abnormalities may include mild to moderate Intellectual Disability . Features of Women with the premutation may have Primary Ovarian Insufficiency ; sometimes menopause occurs in the mid-30s. Males and females with an 