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Fragile X Syndrome

Also called: FRAXA, FXS
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Summary

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

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  • From the National Institutes of Health (National Institute of Child Health and Human Development)
  • (National Fragile X Foundation) - PDF
  • From the National Institutes of Health (National Human Genome Research Institute)
  • (Centers for Disease Control and Prevention)

Symptoms

  • (National Fragile X Foundation)
  • From the National Institutes of Health (National Institute of Child Health and Human Development) Also in

Diagnosis and Tests

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Treatments and Therapies

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Related Issues

  • (National Fragile X Foundation)
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  • From the National Institutes of Health (National Institute of Child Health and Human Development) Also in
  • (National Fragile X Foundation)

Genetics

  • From the National Institutes of Health (National Library of Medicine)
  • (National Fragile X Foundation)

Clinical Trials

  • From the National Institutes of Health (National Institutes of Health)

Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)

Find an Expert

  • From the National Institutes of Health (National Institute of Child Health and Human Development) Also in

Women

  • (National Fragile X Foundation)

Patient Handouts

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