Williams-Beuren Syndrome Essay

Williams-Beuren Syndrome Essay

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William’s Syndrome (WS) or Williams-Beuren Syndrome (WBS) is a condition that is genetic in origin, is present at birth, and affects males and females equally. Individuals with this syndrome have ongoing medical problems, which may include cardiovascular disease, developmental delays and learning disabilities. Individuals with WS are highly sociable, friendly, and endearing but cannot always understand social cues.

William’s Syndrome is caused by a spontaneous deletion of 26-28 genes on chromosome 7, the "Williams syndrome critical area.” The deletion occurs at the time of conception and not caused by any aspect of the parent’s lifestyle prior to or during the pregnancy period.

Diagnosis
The main diagnostic tool for Williams Syndrome is the Fluorescent in situ hybridization (FISH) test. This test analyzes chromosomes to determine the number of elastin genes an individual has on their chromosome #7. If there is a copy on each chromosome #7, the patient most likely does not have WS. If there is only one copy total, diagnosis of WS is confirmed.

Presentation
Most young children with WS have facial features that include a small upturned nose, long philtrum (upper lip length), wide mouth, full lips, small chin, and puffiness around the eyes. Blue and green-eyed children with WS can have a prominent "starburst" or white lacy pattern on their iris. These characteristic facial features become more apparent with age.

Symptoms
• Heart and blood vessel problems
o Narrowing in the aorta (supravalvular aortic stenosis) or pulmonary arteries.
 Ranging from trivial to severe (requiring surgical correction).
o Risk of high blood pressure over time.
o Periodic monitoring of cardiac status is necessary.
• Musculoskeletal problems
o Low...


... middle of paper ...


... problems.
3. All of the following are personality traits of someone with William’s Syndrome EXCEPT:
a. High interest in music
b. Very social
c. Fears strangers
d. Intellectual Disability

References
1. Williams Syndrome Association. (2014). Heart to heart: What is william’s syndrome? Retrieved March 3, 2014, from http://www.williams-syndrome.org/what-is-williams-syndrome
2. Williams Syndrome Association. Diagnosing Williams Syndrome. Available at: http://www.williams-syndrome.org/diagnosing-williams-syndrome/diagnosing-williams-syndrome; March, 6, 2014, 2011
3. Medicine Plus. Trusted Health Information for You. Williams Syndrome. http://www.nlm.nih.gov/medlineplus/ency/article/001116.htm Published 26 February 2014. Accessed 6 March 2014.

Developed Spring 2014 by:
Stephanie Kitasoe
David Watkins
Amy Dauman
Sondra Kelly
Ryan Peebles
Demarkis Smith
Lindsey Weck



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