2. WHAT IS WILLIAMS SYNDROME?
WS is a rare genetic disorder
First discovered by a british cardiologist called Dr. J.C.P. Williams in 1961
He discovered WS when he was 39
November 16, 1922 (age 93)
Alternative name: Williams-Beuren syndrome
3. DISCOVERY…
In 1961 Dr. J.C.P. Williams treats patients
With symptoms and features
In 1962 Dr. A.J. Beuren reports similar findings with patients
In 1993 Dr. C.A. Morris discovers the genetic cause
4. CAUSES…
Missing a part of chromosome #7
Deletion of 26 genes copy of
individual chromosome #7 which
includes the elastin protein
Elastin protein gives strength for the rest of your life
Deletion is due to unequal crossing over chromosome #7 homologous
5. SYMPTOMS…
Common facial features:
Wide mouth
Small upturned nose
Widely spaced teeth
Full lips
Common personality traits:
An interest in music
Being overly friendly
Hyperacusis
Common symptoms:
Learning disorders
Inward bend of pinky finger
Specific phobias
Low birth weight
6. WARNING SIGNS…
WS can't be controlled or avoided
Cannot be prevented either
It comes naturally when you are born
Williams Syndrome
Ahead
7. DIAGNOSIS…
Diagnosis is visual after a simple blood test
Fluorescent In Situ Hybridization (FISH) is a
DNA test that tells the elastin deletion on the
chromosome #7
Classical Mental Arithmetic (CMA) is training
8. TREATMENTS…
There is no main special
treatment
Ease the symptoms
Blood vessels can be treated
if they cause the symptoms
Physical and speech therapy
Regular checkups are
highly necessary
Avoid taking extra calcium
and Vitamin D because of
high blood levels
12. BIBLIOGRAPHY
"Current Studies." Current Studies. Williams Syndrome Association, n.d. Web. 16 Dec. 2015. <https://williams-syndrome.org/researcher/current-
studies>.
"Frequently Asked Questions about Williams Syndrome and the WSA." Frequently Asked Questions about Williams Syndrome and the WSA.
Williams Syndrome Association, n.d. Web. 16 Dec. 2015. <https://williams-syndrome.org/faq>.
"Medical Resources." Medical Resources. Williams Syndrome Association, n.d. Web. 16 Dec. 2015. <https://williams-
syndrome.org/doctor/medical-resources>.
"NINDS Williams Syndrome Information Page." Williams Syndrome Information Page: National Institute of Neurological Disorders and Stroke
(NINDS). National Institute of Health, 30 June 2015. Web. 16 Dec. 2015. <http://www.ninds.nih.gov/disorders/williams/williams.htm>.
"What Is Williams Syndrome?" What Is Williams Syndrome? Williams Syndrome Association, n.d. Web. 16 Dec. 2015. <https://williams-
syndrome.org/what-is-williams-syndrome>.
"Who Is the WSA?" Who Is the WSA? Williams Syndrome Association, n.d. Web. 16 Dec. 2015. <https://williams-syndrome.org/who-is-wsa>.
"Williams Syndrome." Diseases & Conditions. Cleveland Clinic, n.d. Web. <https://my.clevelandclinic.org/health/diseases_conditions/hic-
williams-syndrome>.
"Williams Syndrome." Healthline. Williams Syndrome Association, n.d. Web. 16 Dec. 2015. <http://www.healthline.com/health/williams-
syndrome#Overview1>.