Fragile X Syndrome

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Basics

• Summary
• Start Here
• Symptoms
• Diagnosis and Tests
• Treatments and Therapies

Learn More

• Related Issues
• Genetics

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Research

• Clinical Trials
• Journal Articles

Resources

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• Patient Handouts

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

Start Here

• Fragile X Syndrome Overview (National Institute of Child Health and Human Development)
• Fragile X-Associated Disorders (FXD): A Handbook for Families, Health Care Providers, Counselors, and Educators (National Fragile X Foundation) - PDF
• Learning about Fragile X Syndrome (National Human Genome Research Institute)
• What Should You Know about Fragile X Syndrome (FXS)? (Centers for Disease Control and Prevention)

Symptoms

• Features of Fragile X Syndrome (National Fragile X Foundation)
• What Are the Symptoms of Fragile X Syndrome? (National Institute of Child Health and Human Development) Also in Spanish

Diagnosis and Tests

• How Do Health Care Providers Diagnose Fragile X Syndrome? (National Institute of Child Health and Human Development) Also in Spanish

Treatments and Therapies

• What Are the Treatments for Fragile X Syndrome? (National Institute of Child Health and Human Development) Also in Spanish

Related Issues

• Fragile X Syndrome and Autism (National Fragile X Foundation)
• Fragile X Syndrome: Other FAQs (National Institute of Child Health and Human Development) Also in Spanish
• Fragile X-Associated Primary Ovarian Insufficiency (FXPOI): Condition Information (National Institute of Child Health and Human Development) Also in Spanish
• Fragile X-Associated Tremor and Ataxia Syndrome (FXTAS) (National Institute of Child Health and Human Development) Also in Spanish
• Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) (National Fragile X Foundation)

Genetics

• Genetics Home Reference: fragile X syndrome (National Library of Medicine)
• What It Means to be a Carrier (National Fragile X Foundation)

Clinical Trials

• ClinicalTrials.gov: Fragile X Syndrome (National Institutes of Health)

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

• Article: Open-label pilot clinical trial of citicoline for fragile X-associated tremor/ataxia syndrome...
• Article: De novo variants in the Helicase-C domain of CHD8 are associated...
• Article: Altered mitochondrial function in cells carrying a premutation or unmethylated full...
• Fragile X Syndrome -- see more articles

Find an Expert

• Eunice Kennedy Shriver National Institute of Child Health and Human Development (National Institute of Child Health and Human Development) Also in Spanish

Women

• Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) (National Fragile X Foundation)

Patient Handouts

• Fragile X syndrome (Medical Encyclopedia) Also in Spanish