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...
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... 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
The head is unable to grow normally, which can lead to a misshapen skull, widely spaced eyes, and a bulging forehead. At birth, the bones of the skull are not joined together; they close up as the child grows. In Jackson-Weiss syndrome, the skull bones join together too early. This is called "craniosynostosis." Foot abnormalities are the most consistent characteristic, as not all individuals with Jackson-Weiss syndrome have abnormal skull or facial features. The big toes are enlarged and bend away from the other toes. They have very different ways off forming in the feet including the big toes are short and wide, the big toes also bend away from other toes, and the bones of some toes may be fused together which they call “syndactyly” or abnormally
Canavan Disease is a fatal neurological disease where there is significant damage to the nerve cells in the brain. There is a defect in the myelin sheath that causes many problems for the nervous system. The major problem is caused when the enzyme aspartoacyle is not present. This missing enzyme causes a chemical imbalance that causes this defect in the myelin sheath. The myelin in the brain destructs which makes it a spongy tissue. This causes overall muscle weakening and slower movements, leading to severe mental retardation. A recent study has shown that the cells in the brain that are responsible for making myelin sheaths (oligodendrocytes), cannot complete the task. When babies are born they may not show any signs at all until the first few months. This disease is only inherited and categorized under a group of diseases called leukodystrophies. Leukodystrophies gets its name because it means there is a degeneration of myelin, which is a fatty cushioning that shields nerve fibers. This makes the nerve signals very difficult to transmit. People with Canavan Disease life span can range from a couple days, months, or maybe even until their twenties (Genetics Home Reference, n.d.); (Canavan Foundation, n.d.).
Deletion is a mutation in which a part of the chromosome or the DNA is absent or lost. It may be inherent, or it may be due to improper chromosomal crossing-over during meiosis. This deletion is responsible for the abnormalities in the patient. One of the known disorders seen due to deletion is the Wolf-Hirschhorn syndrome.
Because Williams Syndrome is very uncommon within a large crowd among people, the causes that are known to trigger the disorder are very few. The causes or conditions that are known to trigger Williams Syndrome is by the deletion of twenty-six to twenty-eight genes on chromosome #7. Many people may conclude that just because Williams Syndrome is a “genetic” disorder meaning that it has to be inherited from their parents are incorrect. Most people may not inherit Williams syndrome because the chances of his or her child to inherit the syndrome is a low 50/50 chance. That is because when the deletion of the 26 – 28 genes that takes place within the chromosome number seven are of what randomly chosen events that particularly occur in the male or female eggs or sperm .When dealing with Williams syndrome many symptoms may come upon the person with this disorder. Some of the symptoms may be not be that eye catching or life threating but some, however some can be life threating. In resulting the person to ...
Heart Failure Overview WebMD Reviewed by Thomas M. Maddox, MD on May 28, 2012 http://www.webmd.com/heart-disease/heart-failure/heart-failure-overview
lip, skin folds at the corners of the eyes, indistinct groove on the upper lip, and an
Nordqvist, C. (2013, November 20). What is Weight Watchers? What are the benefits of Weight Watchers? ADDENDUM TABLE 2 TO WEIGHT WATCHERS DIET. Retrieved from Medical News Today: http://www.medicalnewstoday.com
"Symptoms and Diagnosis of Heart Attack." American Heart Association Symptoms and Diagnosis of Heart Attack. American Heart Association, 22 Mar. 2013. Web. 29 Mar. 2014.
Quinn, P. (2012). Attention Deficit Hyperactivity Disorder: What Is ADHD?. WebMD. Retrieved on December 3, 2013, from
According to Hassold and Sherman (2002), the probability of giving birth to a child with DS is not linked to any race, ethnicity, socioeconomic status or geographic location. Maternal age seems to be the only etiological factor that may cause DS. Some characteristics of DS include: deep folds at the corners of the eyes, hypotonia, short stature, flexible joints, small oral cavity and heart defects (Taylor, Richards, & Brady, 2005). Most individuals with DS have a moderate intellectual disability, although there is a range of disability, from severe to high functioning (IQ above 70). Since DS is a birth defect and not a disease, there are no treatment options.
"Down syndrome." South African Medical Journal 101.1 (2011): 6. Health Reference Center Academic. Web. 16 Apr. 2014.
Allen.M, (2013). How Many Die From Medical Mistakes in U.S. Hospitals? Retrieved on March 29, 2014 from http://www.npr.org/blogs/health/2013/09/20/224507654/how-many-die-from-medical-mistakes-in-u-s-hospitals
8) Deering, R., Kaplan, P., Nicholson, S. Williams Syndrome and Anesthesia: Evaluation of a Large Unselected Cohort. Presented at the Williams Syndrome Conference in MI (2000). In publication, Journal of Pediatrics.
"Adenosine - What Is Adenosine?" Adenosine - What Is Adenosine? N.p., n.d. Web. 09 Mar. 2014.
University of Maryland Medical Center. (2013, December 18). What is a Pediatrician?. Retrieved September 12, 2014, from http://umm.edu/programs/childrens/health/about/what-is-a-pediatrician