Genetic Disorder Assignment

By: Josh Casto 4th

Williams Syndrome
- William Syndrome is a rare and debilitating disorder inherited from birth that
affects the childs growth, physical appearance, and mental development.
- People who have williams syndrome have lost the elastin protein in a gene that
codes for the cells stretchiness and strength needed to withstand lifetime use.
- Cells are not strong enough for a full functioning circulatory system.
- Child faces circulation and heart problems with williams syndrome.
- Most children with syndrome have disability in the brain and has limited function
of learning capabilities.
- Effects social abilities in the child and causes most children to become infertile
but life expectancy is around normal age.
Genetic Tie Of Disorder
- Williams Syndrome is connected to chromosome 7 in the human body.
- The chromosome is missing the genetic material that codes for elastin that gives
cells its strength and stretch to withstand a lifetime of work.
- Formation of syndrome develops during the creation of gametes for sperm or egg.
- In sperm or egg, the break in chromosome 7 causes it to lose the elastic coding for
the gene and when fertilized develops into Williams Syndrome.
- Break is random and is very unlikely to happen.
- People with the disease can pass it on, but not likely as most are infertile.
- Very rare to get the Syndrome.
Signs and Symptoms
- Intellectual Disability
- Heart Defects.
- Unusual facial features (Small Nose, wide mouth, full lips, wide chin, widely
spaced teeth.
- Low Birth Weight and failure of proper weight gain.
- Kidney abnormalities.
- Low Muscle Tone.
- Signs also include hypersensitivity to loud noise and outgoing personality.
- Doctors can come to a full conclusion by doing a technique called FISH that uses
a fluorescent probe that lights up the gene in ultraviolet light. They use it to see if
Chromosome 7 is missing the elase band.
Treatment and Cure
- There is no known cure that we know of right now to cure Williams Syndrome.
- Treatment, however, may include physical therapy and speech therapy to help the
people suffering from syndrome to speak and socialize while being able to
perform physical activity.
- If the patient with syndrome has blood vessel clotting which is common in
William Syndrome due to the cardiovascular problems, surgery can be used to
unclog the vessel.
- Frequent checkups to ensure the person stays healthy.
- Each case of Williams Syndrome is treated different depending on the person.
Advancement In Research Of Williams Syndrome
- The only research being done for Williams Syndrome is in the medical aspect of
preventing blood clotting so the patient wont have any physical threat of death.
- Doctor Beth A. Kozel is working on tying of genetic factors from other vascular
diseases to find the common genetic factor causing it and based off the data that
she can focus on preventing or even treating the gene from mutating.
- She also brings in environmental factors as well as genetic to find any factors that
will lead to a high chance of blood clotting.
- There are no research available on curing the mental problems of Williams
Syndrome.
Sources
Informational sources:
- http://www.stlouischildrens.org/our-services/williams-syndrome-center/research
- http://learn.genetics.utah.edu/content/disorders/chromosomal/
- https://www.ncbi.nlm.nih.gov/books/NBK22196/
- http://www.healthline.com/health/williams-syndrome#treatment4

Photograph sources:
- http://files.ctctcdn.com/160ac66b001/0a65b63b-6dee-4e5e-988f-83121e445709.jpg
- http://98a4980578083abe0fc6-26cdb33025b4deaf9c0a6e9a3953d227.r43.cf2.rackcdn.com/A7C029EF-2C50-4F71-B866-32199
ADDAB49.jpg
- https://s-media-cache-ak0.pinimg.com/736x/d3/f8/61/d3f861c7ca7b77bd80d46a6617c4c2a6.jpg
- http://byebyedoctor.com/wp-content/uploads/2011/06/williams-syndrome-2.jpg
- http://learn.genetics.utah.edu/content/disorders/chromosomal/williams/images/chr7-elastin.jpg