Fragile X syndrome is an inherited form of intellectual disability that is primarily seen in males. It is the most common form of inherited intellectual disability. Fragile X syndrome is caused by the FMR1 gene on the X chromosome. Females tend to be less affected because they have 2 X chromosomes, and one can compensate for a mutation on the other X chromosome. Males have only 1 X chromosome, so mutational changes are more likely to be expressed.

About 1 in 5,000 males born in the United States has fragile X syndrome. Females are less severely and less commonly affected (about 1 in 7,000).

Children with fragile X syndrome may have gastroesophageal reflux disease (see Gastroesophageal Reflux Disease [GERD] Quick Reference Sheet) and may need medication or special feeding techniques.

No emergencies are directly related to fragile X syndrome, but seizures may occur.

Source: Managing Chronic Health Needs in Child...

You do not currently have access to this content.