Fragile X

Fragile X Syndrome  

Fragile-X Syndrome is a genetic condition that causes a wide range of developmental problems including learning disabilities and mental retardation. It’s an inherited X-linked dominant pattern whereby a fragile area of the X chromosome tends to repeat bits of genetic code. Because boys have only one X chromosome, a single fragile X is more likely to affect them more severely. Affected males also tend to have notable physical characteristics that become more apparent with age. Twenty percent of boys with Fragile X will meet the full criteria for autism. Additionally, most boys and some girls will exhibit symptoms of autism.

Fragile X occurs in approximately 1 in 4,000 to 6,000 males and 1 in 8,000 to 9,000 females. 

In addition to learning difficulties, affected children tend to be restless and inattentive. Notable physical characteristics in boys will include a long and narrow face, large ears, prominent jaw, unusually flexible fingers, and enlarged testicles (macro-orchidism).

Fragile X Symptoms

• Attention deficits and hyperactivity

• Autistic behaviors and characteristics

• Large forehead and/or ears with a prominent jaw 

• Flat feet 

• Mental impairment, ranging from learning disabilities to mental retardation 

• Large testicles (macro-orchidism) 

• Tendency to avoid eye contact 

• Hyperextensible joints, especially fingers 

• Seizures (epilepsy affects approximately 25% of people with Fragile X) 

• Large size for age 

• High anxiety with unstable moods


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Did You Know?

  • * In 1970, Autism affected 1 out of 10,000 children
  • * Autism now affects 1 out of 88 children
  • * Autism affects 1 in 54 boys
  • * 1.7 million Americans have some form of autism
  • * 4 out of 5 autistic children are boys

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