Williams Syndrome Essay

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Williams syndrome is a rare genetic disorder with a rate of incidence of approximately 1 in 20,000 births. This usually results in mild to moderate mental retardation, although this is frequently accompanied by behavior patterns and abilities reminiscent of those of autistic savants. The literature on Williams syndrome is filled with cases such as Gloria Lenhoff, a forty-six-year-old lyric soprano who has performed with both the San Diego Master Chorale and members of the rock group Aerosmith. She is said to know almost 2,500 songs in more than twenty-five languages, which she sings with perfect pitch and in the correct accents. She also has an IQ of about 55, the borderline between mild and moderate mental retardation.

Typically, the individual with Williams syndrome has difficulty with all but the simplest mental and physical tasks; but certain abilities, including both verbal and musical skills, appear to be unaffected. Indeed, virtually everyone with this syndrome who has been studied thus far appears to have an exceptional affinity for music. The incidence of perfect pitch is reported to be unusually high, and a very fine-tuned sense of rhythm is also quite common. Exceptional social skills are also widely reported by those who work with children with Williams syndrome.

The cause of Williams syndrome appears to be an abnormality in the seventh pair of chromosomes. Specifically, one chromosome in the pair is missing some genetic material, including the gene that codes for the production of elastin. Elastin is a vital protein in the human body, responsible for lending flexibility both to internal organs and to blood vessels. Unsurprisingly, heart and circulatory problems are common in people with Williams syndrome, as is a higher than normal incidence of other problems involving internal organs. What remains unclear is what, if any, relationship exists between the absence of elastin and the other problems (and advantages) associated with Williams syndrome. The elastin gene is not the only deletion on the seventh chromosome, but very little is known about what else has been affected. Research on Williams syndrome is in its infancy, but it will surely become much better understood over time.


  1. The Williams Syndrome Foundation Official Web Site, www.wsf.org, Williams Syndrome Foundation, 2003.

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