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Fragile X Syndrome

By

Nina N. Powell-Hamilton

, MD, Sidney Kimmel Medical College at Thomas Jefferson University

Last full review/revision Jul 2020
CLICK HERE FOR THE PROFESSONAL VERSION

Fragile X syndrome is a genetic abnormality on the X chromosome that leads to intellectual disability and behavior problems.

The symptoms of Fragile X syndrome are caused by an abnormality of a specific gene on the X chromosome (see Gene abnormalities Gene abnormalities Chromosomes are structures within cells that contain a person's genes. A gene is a segment of deoxyribonucleic acid (DNA) and contains the code for a specific protein that functions in one or... read more ). People have an excessive number of copies (more than 200) of a small segment of deoxyribonucleic acid (DNA). People with 55 to 200 extra copies are considered to have a premutation because, although they do not have the disorder, their offspring are at greater risk of having it.

Symptoms of Fragile X Syndrome

Children and adults with the syndrome may have physical, intellectual, and behavior problems. 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 Mitral Valve Prolapse (MVP) Mitral valve prolapse is a disorder in which the valve flaps (cusps) bulge into the left atrium when the left ventricle contracts, sometimes allowing leakage (regurgitation) of blood into the... read more Mitral Valve Prolapse (MVP) ) may occur.

Children may have mild to moderate intellectual disability. Features of autism Autism Spectrum Disorders Autism spectrum disorders are conditions in which people have difficulty developing normal social relationships, use language abnormally or not at all, and show restricted or repetitive behaviors... read more may develop, including repetitious speech and behavior, poor eye contact, and social anxiety.

Diagnosis of Fragile X Syndrome

  • DNA tests

Fragile X syndrome can be detected by DNA tests done after birth. The diagnosis of Fragile X syndrome is typically made when the child is school age or an adolescent. Boys with autism and intellectual disability should be tested for Fragile X syndrome, especially if their mother has relatives who have similar problems.

Treatment of Fragile X Syndrome

  • Speech, language, and occupational therapies

  • Sometimes drugs

Early intervention, including speech and language therapy and occupational therapy, can help children with Fragile X syndrome maximize their abilities.

Stimulants, antidepressants, and antianxiety drugs may be beneficial for some children.

More Information about Fragile X Syndrome

The following is an English-language resource that may be useful. Please note that THE MANUAL is not responsible for the content of this resource.

NOTE: This is the Consumer Version. DOCTORS: CLICK HERE FOR THE PROFESSONAL VERSION
CLICK HERE FOR THE PROFESSONAL VERSION
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An important part of normal development is an infant’s growing attachment to its parents. As this bond strengthens, the infant may express fear or anxiety when the parents leave. This “separation anxiety” typically begins at around 8 months of age and resolves at around 24 months of age. Which of the following is the normal and expected infant behavior in reaction to a parent leaving the room during the time period of separation anxiety?
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