Autism-World

Williams syndrome is a genetic condition that is a cause of mental retardation. It is a relative newcomer on the causes-of-retardation scene, as it was not identified as a distinct condition until 1961. The cause of the disorder is a mutation of chromosome 7; a fragment of chromosome 7 is missing in the individual’s genetic make-up. The mutation seems to be random rather than inherited.

Williams syndrome is not nearly as common as Down syndrome is; an estimated one in twenty-thousand babies are born with the disorder. The condition has no affiliation with a specific socioeconomic group. It is equally present in males and females and occurs in all races. Though rare, cases of Williams syndrome have been recorded across the globe.

Facial features common among those who have Williams syndrome are subtle but distinct. They include a tiny upturned nose, a wide, full mouth, a small chin, and distended skin around the eyes. Individuals who have light-colored eyes tend to have a white pattern throughout the iris, described as a starburst design. Physical traits include a longer than normal neck, sloping shoulders, and a generally short stature. The spine tends to curve and there is limited mobility in the joints.

The physical and facial features are so subtle that it usually takes a trained eye to spot them. A geneticist or a birth defect specialist is typically the first to recognize the traits. The physical and facial traits are easily recognized as the child grows, however, because of the irregular body proportions that occur.

Certain medical problems tend to accompany Williams syndrome children, and may shorten their lifespan. Cardiovascular disease resulting from narrowed arteries is the most daunting medical condition. Stomach problems, including colic in infancy and abdominal pain throughout adolescent and adult years, are also common. Diabetes is common complication that usually develops by the time a Williams child reaches his thirtieth birthday. Hearing loss, caused by auditory nerve dysfunction, also occurs with frequency in Williams syndrome.

This entry was posted on Thursday, August 16th, 2007 at 10:14 pm and is filed under Williams Syndrome.