William+Syndrome

toc = Williams Syndrome or = = Williams-Beuren Syndrome = By Sharif C. And Duncan W.


 * Williams Syndrome is an autosomal dominant trait
 * Williams Syndrome can happen to anyone as long as there is micro deletion in chromosome 7.
 * Williams Syndrome is very serious disease and can be fatal.
 * 1 Out of every 10, 000 babies have Williams Syndrome

Wiliams Syndrome: symptoms and prognosis

 * Someone with Williams Syndrome will have mental retardations, unusual facial features, and problems with their circulatory systems.

Facial Features
(1,2,3,4) A person with Williams Syndrome may exhibit the following facial features
 * Full Lips[[image:WS_control_portrait_morph-1.gif align="right" caption="showing the difference between a normal person, and someone with williams syndrome" link="http://blogs.bmj.com/adc-precis/2007/11/29/3d-imaging/"]]
 * Long neck
 * Round face
 * Prominent ears
 * Flared eyebrows
 * Short eyelid folds
 * Broad nasal bridge
 * Puffiness around the eyes
 * Short nose
 * Broad nasal tip
 * Wide mouth
 * Full cheeks
 * Small chin
 * Wide teeth spacing
 * Sometimes they will have a star like pattern around the iris

Mental Symptoms
(1,2,3,5)
 * Infants with Williams syndrome may be irritable and colicky
 * Williams syndrome patients may have strength in short term verbal memory and strength in language
 * Williams syndrome patients may have a weakness in copying patterns or writing
 * Attention deficit disorders accrue in more than half of the children with Williams syndrome
 * Half of the children with Williams syndrome half fears of specific things or phobias, like spiders which is arachnophobia
 * Most of the individuals with Williams syndrome may worry a lot
 * Individuals with Williams syndrome may also have a very outgoing personality

Other Problems
(1,2,3,5) The following are health problems and other symptomsmedia type="youtube" key="Dgfm8iWrY_4" height="344" width="425"
 * An infant with Williams syndrome may have increased levels of calcium in their blood
 * Individuals with Williams may have the following three cardiac/circulatory problems
 * Obstruction of the flow of blood to the lungs from the lower right chamber of the heart
 * narrowing passage above the valve located between the left ventricle and the main artery
 * Diseases caused by narrow arteries
 * An individual may have the following two skeletal problems
 * A depression in the breastbone
 * An unusual curvature of the backbone that is either side to side, or front to back
 * An individual with Williams syndrome may walk awkwardly
 * Babies with Williams syndrome may have a low birth rate
 * They also may have kidney abnormalities and weak muscles
 * Individuals with Williams syndrome may have limited joint movements
 * Infants with Williams syndrome may have feeding problems and have trouble gaining weight
 * In adults with Williams syndrome there may be a chronic abdominal pain
 * By age thirty individuals with Williams syndrome are most likely to have diabetes, or are developing diabetes, and have hearing problems

Prognosis
(2,4,6)
 * In most cases Williams Syndrome shows mild to moderate mental retardation in its carries.
 * Sometimes individuals with retardations are able to live a normal life however some individuals may require the following help media type="youtube" key="7pyNe2TBQi8" height="344" width="425"
 * They may need to live in special conditions, such as with a care giver
 * Additional educational help may be required early on to help maximize their likelihood of living a semi independent life.
 * There is no cure for Williams Syndrome
 * It is not likely that you will live very long but there is a small possibility

Diagnosis[[image:williams_FISH.jpg align="right" caption="williams syndorme fish picture" link="http://learn.genetics.utah.edu/content/disorders/whataregd/williams/"]]
(1)
 * At first doctors identify Williams Syndrome by the distinctive facial features
 * Once doctors think that a patient has Williams Syndrome should use a technique called FISH
 * FISH stands for fluorescent in situ hybridization
 * Fish is similar to a karyotype except it uses a labeling chemical that attaches to the elastine gene; which is part of the base pairs that are deleted in Williams Syndrome
 * If the probe shows up on both chromosomes it means that there is no deletion

Genetics
(5,1)
 * If a person with Williams Syndrome has off spring there is a 50% chance of their children having Williams Syndrome. The reason for this is because the trait is autosomaldminant and most likely the person is heterozygous dominant instead of being homezygous dominant.
 * Even if a child's parents do not have Williams Syndrome the child still may have Williams Syndrome. This is because, the deletion is usually originally made in the process of meiosis.

Punnet Square
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