What is Williams Syndrome?
Williams Syndrome (WS), also called Williams-Beuren Syndrome, is a rare genetic condition caused by a deletion of 26-28 genes of a specific region on chromosome 7 (7q11.23). The deletion is random and not heritable.
Prevalence
About 1 in 7,500 to 20,000 people have Williams Syndrome, affecting both males and females equally and in every culture. There are an estimated 200-600 people with WS in British Columbia.
What are the characteristics?
Physical
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Those with WS generally have short stature, small teeth and distinctive facial features that become more pronounced with age. They are often described as having an "elfin-like" appearance with broad forehead, short up-turned nose, long philtrum, wide mouth with full lips, small chin, and puffiness around the eyes. Blue and green-eyed children with WS may have a star-shaped pattern on their irises.
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Medical
Most people with WS suffer from medical
problems such as hypercalcemia in infancy, low birth weight,
congenital heart defects and cardiovascular problems most commonly
supravalvular aortic stenosis (SVAS), a narrowing in blood vessels that may cause shortness of breath, chest pain, and heart failure.
Other abnormalities include kidney problems, connective tissue and
joint problems with limited range, low muscle tone, hypertension and
chronic middle ear infections.
Cognitive
The average brain of WS children are 15 percent smaller than those in the normal population. Most affected individuals will have a mild to severe learning disability. The average IQ of people with WS is 60. WS does not have its own designation. They often have difficultly with visual-spatial tasks, abstract concepts and mathematics. Virtually all have strong verbal reasoning skills, good long-term memory and highly developed auditory processing (hyperacusis).
Behaviour
One of the hallmark traits of WS is their highly social nature and endearing personalities. Their strong need to connect with others however can be frustrated by their tendency to miss social cues. They are highly verbal and have a strong affinity for music. Similarities to ADHD are not uncommon with short attention span and distractability but not necessarily hyperactivity. Many people with WS experience higher than normal anxiety and even develop phobias associated with hyperacusis.
References:
- What is Williams Syndrome? (2014) Retrieved July 7, 2015, from https://williams-syndrome.org/what-is-williams-syndrome
- What is Williams Syndrome? (2014) Retrieved July 7, 2015, from http://ghr.nlm.nih.gov/condition/williams-syndrome
- Williams Syndrome: General Discussion (2006) Retrieved July 7, 2015 from http://rarediseases.org/rare-diseases/williams-syndrome/
- Living With Williams Syndrome (2011) Retrieved July 14, 2015 from https://www.youtube.com/watch?v=AHT$-dB4MiI
- Characteristic Facial Features (2014) Retrieved July 19, 2015 from http://www.smartspeechtherapy.com/spotlight-on-syndromes-an-slps-and-ots-perspective-on-williams-syndrome/
- Williams Syndrome (2008). Retrieved July 19, 2015, from torresbioclan.pbworks.com