Fragile X syndrome



What is Fragile X syndrome?

Fragile X syndrome is a genetic disease, which is inherited and causes developmental and intellectual disabilities in the patient. Fragile X syndrome is the commonest hereditary cause of mental disability in boys. Patients having fragile X syndrome commonly have a range of learning and developmental problems. This syndrome is a life-long medical condition. Very few people suffering from fragile X syndrome are able to lead an independent life.

How common is Fragile X syndrome?

Fragile X syndrome is uncommon. According to studies, fragile X syndrome is seen in about 1 in every 8,000 females and 1 in every 4,000 males. Males tend to have more severe symptoms when compared to females. Please discuss with your doctor for further information.


What are the symptoms of Fragile X syndrome?

Fragile X syndrome causes developmental delays, learning disabilities, and social or behavioral problems in patient. The disabilities differ in severity from patient to patient. Male patients commonly have some degree of intellectual disability. Female patients can also have some learning disability or intellectual disability or both. However, many women having fragile X syndrome often have normal intelligence.

Patients having fragile X syndrome display the following signs and symptoms during childhood and adulthood:

  • Developmental delays, e.g. taking a longer than the usual time to learn to sit, talk, walk, when compared to other children of same age.
  • Stuttering
  • Learning and intellectual disabilities, e.g. problem in learning new information or skills.
  • Anxiety
  • Autism in children

The child with this condition can also be impulsive or hyperactive and have:

  • Attention problems.
  • Social problems like lack of eye contact, does not like being touched, and has trouble in comprehending body language.

Patients with fragile X syndrome may:

  • Have seizures.
  • Have trouble sleeping.
  • Falls into depression.

There are some patients with fragile X syndrome with physical abnormalities or some facial abnormalities such as:

  • Large ears or forehead with a protruding jaw.
  • Protruding ears, chin and forehead
  • Long elongated face.
  • Flexible or loose joints.
  • Flat feet.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.


What causes Fragile X syndrome?

The cause of Fragile X syndrome is a defect in the gene known as FMR1 gene, which is present in the X chromosome. There are two types of sex chromosomes; one is Y chromosome and the other is the X chromosome. Men have one Y chromosome and one X chromosome; whereas women have two X chromosomes.

The defect in the FMR1 gene hinders the gene from properly making a protein known as fragile X mental retardation 1 protein. This protein plays an important role in the nervous system function. However, the proper function of this important protein is not completely understood. A shortage or lack of this protein produces the symptoms of fragile X syndrome.

Risk factors

What increases my risk for Fragile X syndrome?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Fragile X syndrome diagnosed?

The testing for fragile x syndrome can be done in children who display developmental delays or have other signs of this syndrome including an increased circumference of the head or some other mild differences in features of the face. FMR1 DNA test is a blood test done to diagnose Fragile X syndrome. This test looks for any changes in the FMR1 gene related to fragile X syndrome.

How is Fragile X syndrome treated?

Fragile X syndrome has no cure. The aim of treatment is helping the patient with fragile X syndrome lead a better life by learning primary skills, such as proper social interaction and language use. This comprises of getting extra help from therapists, teachers, family members, coaches and doctors. There can be many other services and resources present in an individual’s community which will teach the children with fragile X syndrome important skills so that there is proper development.

Medications for child with fragile X syndrome are usually prescribed for behavior problems, such as anxiety, depression, attention deficit disorder and other symptoms of fragile X syndrome.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Fragile X syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Review Date: January 29, 2018 | Last Modified: January 29, 2018