Do You Know the Facts About Fragile X Syndrome?

Tanuja Bisht

, Health A2Z

Fragile X syndrome (FXS) is a hereditary disease transmitted from father to son, leading to intellectual and developmental disabilities. It is also called the Martin-Bell syndrome.


This is the most common inherited cause of mental retardation, especially in children. It affects 1 in 4,000 children. It is less common among girls and affects about 1 in 8,000 people. Children usually have stronger symptoms than girls.


People with FXS typically encounter a variety of developmental and learning problems.


The disease is a chronic disease or for life. Only some people with FXS can live independently.


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What are the Symptoms of Fragile X Syndrome?

There are several symptoms of the syndrome, including:

  • Learning difficulties such as sitting, crawling or running
  • Language and language issues
  • Hands float without eye contact
  • Temper tantrum
  • Poor pulse control
  • Fear
  • Extreme sensitivity to light or sound
  • Hyperactivity and attention problems
  • Aggressive behavior in children

Some children with fragile X have also changed their face and body and may include:

  • A large head
  • A long, narrow face
  • Large ears
  • A large forehead and chin
  • Loose joints
  • Flat feet
  • Enlarged testicles (after puberty)




What are the Causes of Fragile X Syndrome?

FXS is mainly caused due to FMR1 gene defect on the X chromosome. The X chromosome is one of two types of sex chromosomes. The other is the Y chromosome: women have two X chromosomes, one X chromosome, and one Y chromosome.


The defector mutation of the FMR1 gene prevents the gene from correctly producing a protein called fragile protein X of mental retardation. This protein plays a role in the function of the nervous system. The exact function of the protein is not fully understood. The absence or absence of this protein causes the characteristic symptoms of FXS.


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What are the Treatments for Fragile X Syndrome?

Some popular therapies for fragile X syndrome focus on the treatment of symptoms associated with the disease. Drugs, selective serotonin reuptake inhibitors and antipsychotics have been used to control various behavioral symptoms. Non-pharmaceutical interventions include language therapy, personalized education plans, behavioral interventions, and structured patient environment. There is particularly no treatment that addresses the underlying causes of the disease, but several drug or medicines based on the molecular mechanisms are under clinical trials.





Fragile X syndrome affects the child’s learning, behavior, appearance, and health. Children born with this genetic predisposition can receive special training and therapy that will help them learn and grow like other children. Few medications and some other treatments can improve the behavior and physical symptoms of the patient.


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