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