How does fragile x syndrome affect a person

Females with Fragile X syndrome. Fragile X Association of Australia is a registered charity, funded by donations and fundraising. Your donation will help us support families affected by Fragile X, and to increase awareness of Fragile X associated conditions.

PHYSICAL There are some physical features associated with Fragile X syndrome, but they may be subtle or not present: Low muscle tone and loose joints Vision and hearing issues Long narrow face, prominent ears older males Flat feet Large testicles post-pubescent males Mitral valve prolapse. What are CGG Repeats? Who should be tested for Fragile X? Total inc GST. It is the most common form of inherited intellectual disability in boys and is also associated with a range of health complications.

Fragile X is caused by a change in a gene called FMR1. A small part of the gene code is repeated on a fragile area of the X chromosome.

The more repeats, the more likely there is to be a problem. Boys and girls can both be affected, but because boys have only one X chromosome, boys are usually affected more severely. Children can still have fragile X even if their parents do not have it. Diagnosis is made by a blood test. This genetic testing is usually suggested when symptoms or seen. For example, when a child has a large head or has delays in cognitive development. It is recommended that all children with unexplained intellectual disability have testing for fragile X.

There have been a number of studies aimed at determining the prevalence of FXS in males and females. The agreed upon prevalence of FXS:. Intellectual disabilities in FXS include a range from moderate learning disabilities to more severe intellectual disabilities.

The majority of males with Fragile X syndrome demonstrate significant intellectual disability. No one individual will have all the features of FXS, and some features, such as a long face and macroorchidism, are more common after puberty. A small percentage of females who have the full mutation of the FMR1 gene that causes FXS will have no apparent signs of the condition—intellectual, behavioral, or physical. These females are often identified only after another family member has been diagnosed.

Symptoms include intellectual disability, behavioral and learning challenges, and various physical characteristics. Males are more frequently affected, and generally with greater severity. Traditionally, a carrier of a genetic mutation is defined as a person who inherits an altered form of a gene but shows no effects of that mutation.