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Fragile X Syndrome

(Martin-Bell Syndrome; FXS)

Definition

Fragile X syndrome (FXS) is a genetic problem that results in intellectual disability.

Causes

FXS is inherited from parents. It is caused by problems with the FMR1 gene. These problems stop the fragile X mental retardation protein (FMRP) from developing. This protein is needed to make connections in the brain.

Risk Factors

The risk of this problem is higher in people who have a family history of the faulty FMR1 gene.

Symptoms

Problems are different from person to person. They happen less often and are mild in females. Problems may be:

  • Learning problems
  • Slowed development
  • Speech problems
  • Behavioral problems, such as:
    • Mood swings
    • Outbursts
    • Being very sensitive to loud noises or bright lights
    • Aggression
    • Extreme shyness, especially in girls
  • Physical problems, such as:
    • A long face with a jaw that sticks out
    • Large ears
    • Flat feet
    • Joints that bend past normal limits
    • A high-pitched voice and enlarged testes in males after puberty
    • Floppy muscles
    • Problems with motor skills like sitting and walking

Diagnosis

The doctor will ask about your child's symptoms and health history. A physical exam will be done.

The diagnosis can be confirmed with a genetic test.

Treatment

There is no cure for FXS. The goal is to manage symptoms. Choices are:

  • Medicines, such as:
    • Stimulants to treat attention and behavior problems
    • Medicine to control mental health problems
    • Antiseizure medicines
  • Speech, occupational, physical, or behavioral therapy
  • Special education services to help with learning

Prevention

There are no known guidelines to prevent this health problem.

RESOURCES:

FRAXA Research Foundation
http://www.fraxa.org

The National Fragile X Foundation
http://www.fragilex.org

CANADIAN RESOURCES:

Fragile X Research Foundation of Canada
http://www.fragilexcanada.ca

Sick Kids—The Hospital for Sick Children
http://www.sickkids.ca

REFERENCES:

Fragile X syndrome. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/fragile-x-syndrome. Accessed November 4, 2020.

Fragile X syndrome overview. National Institute of Child Health and Human Development website. Available at: http://www.nichd.nih.gov/health/topics/fragilex/Pages/default.aspx. Accessed November 4, 2020.

Lozano R, Azarang A, et al. Fragile X syndrome: A review of clinical management. Intractable Rare Dis Res. 2016 Aug;5(3):145-157.

What is fragile X? FRAXA Research Foundation website. Available at: http://www.fraxa.org/fragilex. Accessed November 4, 2020.

Last reviewed September 2020 by EBSCO Medical Review Board Kari Kassir, MD  Last Updated: 5/11/2021