children s health issues
Fragile X Syndrome
Symptoms of Fragile X Syndrome
Children and adults with the syndrome may have physical, intellectual, and behavior problems. Physical features, which are often subtle, include delayed development; large, protruding ears; a prominent chin and forehead; and, in boys, large testes (most apparent after puberty). The joints may be abnormally flexible, and heart disease ( Mitral Valve Prolapse (MVP) ) may occur. Children may have mild to moderate intellectual disability. Features of Autism Spectrum Disorders may develop, including repetitive speech and behavior, poor eye contact, and social anxiety. Women who have the premutation may go through Menopause at a much younger age, sometimes in the mid-30s. People who have the premutation are at risk of Fragile X–Associated Tremor/Ataxia Syndrome (FXTAS), which causes tremor, loss of coordination, later intellectual disability, and, over time, deterioration of cognitive function. 