Fragile X Syndrome

Afrida Rahman

What is Fragile X Syndrome?

Fragile X Syndrome is a genetic disorder that causes learning disabilities. Usually males are more affected than woman. Fragile X syndrome is mostly found in younger children rather than the elderly. Fragile X Syndrome is a mutation that makes it difficult to process proteins. Fragile X Syndrome can later lead to Autism.

How was it discovered?

Other names fro Fragile X are FXS and Martin-Bell Syndrome Fragile X Syndrome was discovered in 1991 by Dr. Ben Oostra, Dr. David Nelson, and Dr. Stephen Warren.

How is it diagnosed?

Fragile X Syndrome is caused by a full mutation in FMR1gene when the X chromosome is stretched . Normally, the X chromosome is a small length, but in Fragile X Syndrome, it causes the gene to "turn off". Carrier mothers who have the Fragile X chromosome have a 50% chance of passing the mutation to her offspring. When a father carries the mutation he can only pass it to his daughters.

What are some signs/symptoms?

Some signs and symptoms are
  • delays in talking

  • anxiety

  • hyperactive behavior

  • seizures

  • large ears

  • long face

  • prominent jaw/forehead

  • flat feet

Is here any kind of treatment?

Although Fragile X Syndrome is a chronic disorder, some medications like Risperdal, Abilify,

Nexiclon, Namenda, Intunixas well as some behavioral therapy can help.

Where can I learn more?

You can visit fraxa.org and medicinenet.org to learn more about Fragile X Syndrome.
Animation of Fragile X Syndrome