Living with Fragile X syndrome
A genetic condition that causes a range of developmental problems, including learning disabilities, usually more severe in males.
Understanding Fragile X syndrome
Males are usually more severely affected. Speech and language are often delayed by age 2. Most males have mild to moderate intellectual disability, while about one-third of females do. Children may have anxiety, hyperactivity, attention problems, or features of autism. Seizures occur in about 15 percent of males and 5 percent of females. Physical features include a long narrow face, large ears and flexible fingers.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Learning disabilities
- Attention and hyperactivity problems
- Anxiety
- Long face, large ears, flexible joints
- Seizures in some people
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in FMR1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Fragile X Foundation, FRAXA Research Foundation and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: National Fragile X Foundation, FRAXA Research Foundation, Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Fragile X Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the FMR1 gene cause it. It is X-linked, which means the gene is on the X chromosome.
Also known as: fra(x) syndrome; fragile x intellectual disability syndrome; fragile x syndrome, type a; fragile x syndrome, x-linked dominant; frax syndrome; fraxa (fragile x) syndrome
Patient organizations
- National Fragile X FoundationFragile X syndrome · United States
- FRAXA Research FoundationFragile X syndrome · United States
- Organization for Autism ResearchFragile X syndrome · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Fragile X syndrome.
Explore research for Fragile X syndrome
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