What does Fragile X look like?

These features include a long and narrow face , large ears, a prominent jaw and forehead, unusually flexible fingers, flat feet , and in males, enlarged testicles (macroorchidism) after puberty.

Is Fragile Xa rare disease?

Fragile XE syndrome (FRAXE) is rare and caused by an abnormal FMR2 gene located on the X chromosome very close to the site of the FMR1 gene. The normal FMR2 gene contains 6-35 copies of CCG and people with the disorder have over 200 copies of CCG in the FMR2 gene.

Can Fragile X Be Cured?

Although there is no cure for Fragile X Syndrome, medications can improve the behavior problems.

What is the most common cause of fragile X syndrome?

What are the causes of fragile X syndrome? Fragile X is caused by a mutation in the FMR1 gene that prevents the body from making an important protein, called FMRP. This protein helps create and maintain connections between brain cells and the nervous system.

What causes Fragile X?

Fragile X is caused by a mutation in a single gene. In people with Fragile X, a defect (a full mutation) turns the gene off. Like a defective factory, it cannot manufacture the protein that it normally makes.

What is the prognosis for Fragile X?

According to research, around 44% of women and 10% of men having fragile X syndrome are able to attain a high level of independence as adults. The life expectancy of a patient with fragile X syndrome is thought to be the same as any other normal person. The prognosis also depends on the degree of the symptoms of this condition.

What are the symptoms of Fragile X?

Fragile X Syndrome Symptoms. Though the severity of symptoms differs between men and women, some common fragile X syndrome symptoms are hyperactivity, impulsivity, anxiety, mood swings, tremors, and poor coordination.

Is fragile X male or female?

Females have two “X” chromosomes, and males have one “X” and one “Y” chromosome. Fragile X is caused by a change in the FMR1 gene on the X chromosome that causes it not to work properly. Everyone has 6-10 genes that don’t work the way they should, but this generally does not cause a problem.