Fragile X Syndrome
A Chromosomal Birth Defect
Prevalence: Fragile X syndrome primarily affects males (1 in 1,500). Although 1 in 1,000 females is a carrier, only one in three shows outward signs of having the defect, including intellectual impairment. The range of retardation varies from mild to severe.
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, and autistic-like tendencies. Affected children may also suffer seizures.
However, many children with Fragile X syndrome appear to be physically normal at birth, so a diagnosis may not be made until 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, 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. And, as with most of these birth defects, early-intervention programs begun in infancy can help maximize the child's development.
Fortunately for babies born with birth defects and the parents who care for them, 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.
Richard B. Johnston Jr., MD, FAAP, is a professor of pediatrics and Associate Dean for Research Development at the University of Colorado School of Medicine. He also serves as the Executive Vice President for Academic Affairs at the National Jewish Medical and Research Center, and he is an active consultant to the March of Dimes.
Originally published in American Baby magazine, August 1999. Updated July 2005.
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.