Living with FRAXE
A genetic condition (fragile XE syndrome) that mainly affects thinking and learning, often mildly.
Understanding FRAXE
Most people have mild intellectual disability, and some have borderline cognitive function. Females are rarely diagnosed, likely because signs are mild or absent. Learning disabilities are the most common sign, and can be linked to delayed speech, poor writing, hyperactivity, and a short attention span. Some people show autistic behaviors. Cognitive ability stays steady and does not decline with age.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Learning disabilities
- Intellectual disability, usually mild
- Delayed speech and language
- Hyperactivity and short attention span
- Autistic behaviors (hand flapping, repetitive behavior)
- Short stature
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 and genetic specialists.
- 3Consider genetic testing
Changes in AFF2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Simons Searchlight
- 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 AFF2 gene cause it. It is X-linked, which means the gene is on the X chromosome.
Also known as: fragile xe syndrome; fraxe intellectual disability; fraxe intellectual disability syndrome; fraxe syndrome; intellectual developmental disorder, x-linked 109; intellectual developmental disorder, x-linked 109, x-linked recessive
Patient organizations
- Simons SearchlightFRAXE · United States
You are more than your diagnosis
Perspectives from people navigating life with FRAXE.
Explore research for FRAXE
Explore actively recruiting FRAXE studies with HealthSpark.
Find actively recruiting studies for FRAXE with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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