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Fragile X is caused by a mutation in the FMR1 gene that prevents the body from making an important protein, called FMRP. This protein helps create and maintain connections between brain cells and the nervous system. When FMRP is missing, signals from the brain may be misdirected. This causes the developmental and learning problems found in fragile X.
The FMR1 gene is found on the X chromosome, which means that females (who have two X chromosomes) have two copies of the FMR1 gene, and males (who have one X chromosome) have only one. If this one X chromosome is not working, there’s no backup. This is why boys often have more severe symptoms than girls.
Both boys and girls with fragile X can have certain behavioral and intellectual traits, though girls often have milder symptoms.
Kids with fragile X may have:
Some children with fragile X also have physical traits, which may become more noticeable after puberty:
Because the symptoms of fragile X are similar to, or may mimick, those of other conditions, such as autism and Prader-Willi syndrome, it’s important to see a doctor for an exact diagnosis.
Unlike many other genetic conditions, fragile X syndrome does not cause many medical complications. Health problems in children with fragile X may include:
As adults, people with fragile X may also develop:
We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”