Fragile X Syndrome
Number of Cases Per Year
It is rare. There are fewer than 200,000 cases per year.It affects 1 in 4,000 males and 1 in 8,000 females.
Who It Affects
It affects both genders, but females have milder symptoms. Affects more in ages 0-40. A study in 2013 has showed that 1 in 151 females were affected and 1 in 468 males were affected. Most males are diagnosed at 35-37 months old and females are diagnosed at 42 months.
Symptoms include delays in talking, anxiety, and hyperactive behavior. Some people have seizures.
Physical Features include:
- Large, protruding ears (both)
- Long face (vertical maxillary excess)
- High-arched palate (related to the above)
- Hyperextensible finger joints
- Hyperextensible ('Double-jointed') thumbs
- Flat feet
- Soft skin
Treatments and DIagnose
It can’t be cured but learning disabilities can be treated with therapy. Medication can treat anxiety and mood disorders. Treating Fragile x is best when the patient is a child. A child's brain is still forming, so the sooner the treatment the better. One way to diagnose Fragile X is to do prenatal tests. There is one test called Amniocentesis, where a health care provider takes a sample of amniotic fluids and test it for the mutation.
Fragile X Syndrome is a sex-linked dominant. Some scientists believe that it is recessive, but some studies proves wrong. Fragile X is caused by a mutation in the FRM1 gene. FRM1 creates a protein called FRMP, which is essential for cognitive development. There is a DNA segment CGG triple repeat. Normally, it is repeated 5 to 40 times, but in Fragile X it is repeated 200 times.
Other people Who have it
Mary Jane Clark, a mystery writer, has a son who has fragile X. Jim Cantore, a famous weatherman, has a child with Fragile X.