Williams Syndrome Research Paper

Williams syndrome is a genetic condition that affects a child's growth, physical appearances, and cognitive development. In 1961, Doctor J.C. Williams treated 4 patients with symptoms of williams syndrome. In 1962 Doctor A.J. Beuron reports similar findings in 3 more patients and in 1993 Doctor C.A. Morris discovers the genetic cause for the disease. Williams syndrome is rare. It occurs in 1 in every 20,000 US americans. (1)

Williams syndrome has many symptoms that can be treated. There are facial feature deforms such as a small upturned nose, long philtrum (upper lip length), wide mouth, full lips, small chin, and puffiness around the eyes. Only trained geneticists can really recognize these characteristics. These facial feature become …show more content…
When this is present in a patient, it can cause extreme tempers or “colic-like” symptoms. Usually this problem will be worked out on its own during childhood but blood levels should be periodically monitored in case of slowness in calcium or vitamin d. Many infants and children with williams syndrome have feeding problems. They have been linked to poor muscle tone, severe gag reflex, bad sucking/swallowing etc. These issues resolve as the child gets older. Tempers during infancy is common. This can be related to the elevated blood calcium levels but a lot of the time, the source is not found. Dental abnormalities is common. They might be slightly small or widely spaced. Most of these dental changes are fixable with an orthodontist visit. Kidney abnormalities can happen in patients with williams syndrome. Hernias are also known to be more common to be in williams syndrome patients than the general population. Children with williams syndrome often have highly sensitive hearing. Loud noises can be painful or startling but this also gets better with age. Young children with williams syndrome may have low muscle tone. Joint stiffness and spinal curvature may develop as the child ages. Physical therapy is recommended to help this. …show more content…
They are typically unafraid of strangers and show a greater interest in contacting with adults than their peers. Lastly, most people with williams syndrome have some degree of intellectual handicap(2). They experience developmental delays in walking talking and toilet training. People with williams syndrome are usually undiagnosed or diagnosed at a late age. It is diagnosed by a blood test called the FISH test. Fish stands for fluorescent in situ hybridization. 98-99% of individuals with williams syndrome have a deletion in chromosome number 7 and the FISH test will come back either positive or negative. If positive then you are very likely to have williams syndrome. Another way they test for Williams syndrome is through a chromosomal microarray. This is a tool that will examine the chromosomes and tell you if there is any missing genes. It is slower but is more accurate and will show

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