Fragile X Syndrome: Signs and Symptoms

What are the signs and symptoms of fragile X syndrome?

Early delays in speech and motor development are usually the earliest symptoms in children with fragile X. Some common physical and medical features include a long face, prominent chin,high-arched palate, large and prominent ears, low muscle tone and large testicles in males during puberty.

Connective tissue problems may include double-jointed fingers, hyperextensible joints, flat feet, mitral valve prolapse, constipation and recurrent ear infections. Seizures occur in approximately 15 to 20% of children with fragile X syndrome. Sleep problems are also very common.

How do symptoms differ in girls?

Symptoms of fragile X in females are usually milder compared to males, although some females with fragile X syndrome can have severe symptoms. In about two-thirds of cases, females have mild or moderate learning disabilities, while one-third of females have intellectual disability. Behavioral difficulties in females can also include inattention, anxiety and sensory sensitivities. F can also share the physical features seen in males with fragile X, although the features are typically less prominent in females.

Read about our fragile X research at Children’s Hospital Colorado.