Biochemical Birth Defects

Fragile X

Fragile X syndrome primarily affects males (one in 1,500). Although 1 in 1,000 females is a carrier, only one-third of female carriers show outward signs of having the defect. Fragile X syndrome, similar to Down syndrome, is a frequent cause of mental retardation, ranging from mild to severe, and may be diagnosed prenatally.

Symptoms: The physical characteristics of Fragile X syndrome may include:

  • Large ears
  • An elongated face
  • Poor muscle tone
  • Flat feet
  • Large testicles
  • Overcrowded teeth
  • Cleft palate
  • Heart problems
  • Autism-like tendencies
  • Seizures

However, many children with Fragile X syndrome appear physically normal at birth, so a diagnosis may not be made until between the ages of 18 months and 2 years. At that time, a lack of language development coupled with other developmental delays usually prompts testing.

Treatment: As with Down syndrome, Fragile X is not curable. However, early intervention is essential. As with most of these birth defects, early-intervention programs begun in infancy can help maximize the child's development. Children with Fragile X syndrome can be expected to do most things that any young child can do, although they also generally learn these things later than unaffected children.

Fortunately, new treatments are being studied every day. Ask questions, learn all you can, and focus on your child's particular impairments so you can do everything possible to help him develop to his full potential.

All content here, including advice from doctors and other health professionals, should be considered as opinion only. Always seek the direct advice of your own doctor in connection with any questions or issues you may have regarding your own health or the health of others.

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