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Fragile X Syndrome

Fragile X syndrome is the most common inherited form of mental retardation. It is genetic disorder that can run in families, and it is caused by an abnormality in a single gene. Fragile X syndrome is usually seen in males, though females can have it too.  Females usually have a more mild form of the condition.

Symptoms

The symptoms of fragile X syndrome can range from mild to severe.

• Mental retardation or learning disabilities
• Behavioral problems (such as hyperactivity)
• Autistic-like behaviors (such as hand-flapping)
• Speech problems
• Developmental delay
• Anxiety and mood problems
• Characteristic physical features (such as long narrow face, large ears, and prominent jaw)

Risk Factors

• Family history of Fragile-X
• Genetic Mutations
• Premature ovarian failure in women
• Men and women with older onset tremor/Parkinsons, especially when there is a family history of mental retardation or mental retardation

Genetic Test

The following genetic tests may be appropriate based on your personal or family history:

• FMR-1
• FMR-2

See our pre-conception and prenatal services

Schedule an Appointment

To speak with a board-certified genetic counselor about your risks for this disease:

• Schedule genetic counseling appointment online
• Or call 1-800-975-4819
• Send email

Learn more about scheduling.

Resources

National Fragile X Foundation