Fragile X Syndrome
Reading this article
Topic pages summarize public health information in plain language. They may describe common causes and treatments in general terms; your own plan of care depends on your clinician’s exam, history, and tests. Use what you read here to prepare questions—not to start, stop, or change medications or to self-diagnose.
Fragile X syndrome is the most common form of inherited developmental disability. A problem with a specific gene causes the disease. Normally, the gene makes a protein you need for brain development. But the problem causes a person to make little or none of the protein. This causes the symptoms of Fragile X.
People with only a small change in the gene might not show any signs of Fragile X. People with bigger changes can have severe symptoms. These might include:
- Intelligence problems, ranging from learning disabilities to severe intellectual disabilities
- Social and emotional problems, such as aggression in boys or shyness in girls
- Speech and language problems, especially in boys
A genetic blood test can diagnose Fragile X. There is no cure. You can treat some symptoms with educational, behavioral, or physical therapy, and with medicines. Getting treatment early can help.
NIH: National Institute of Child Health and Human Development