Fragile X

Genetics of the Disorder:
Fragile X is inherited by a change in a part of a X chromosome. Most of the time mutations in a gene called FMR1 cause the Fragile X syndrome. Gene FMR1 is a gene used for holding the instructions for a protein called Fragile X mental retardation 1 protein.

Symptoms:
   Behavior includes:

• Delay in Crawling, Walking, or Twisting
• Hand clapping or hand bitting
• Hyperactive behaivor
• Mental Retardation
• Speech and Language delay
• And tries to avoid eye contact

   Physical Signs are:

• Flat Feel
• Flexible Joints 
• Large body size
• Large forehead or ears with prominent jaw
• Long Face
• Soft Skin

Signs:

• Large Head circumference in babies
• Mental retardation
• Large testicles after the start of puberty
• Small differences in facial features

Diagnosis:

To diagnose Fragile X you can get a molecular genetic testing of the FMR1 gene.

Treatment:

There is no specific treatment for Fragile X, but instead you can put them through training and education to help children with a certain needs, with lots of help.

Prevalence in the Population:

Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females, and occurs in all racial and ethnic groups.

Life Expectancy:

People with Fragile X have a normal life expectancy but about 15% of the boys and 5% of the girls develop seizures.