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WILLIAMS SYNDROME
Zahraa Bahzad
7-4
Science
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
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
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
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
WARNING SIGNS…
 WS can't be controlled or avoided
 Cannot be prevented either
 It comes naturally when you are born
Williams Syndrome
Ahead
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
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
GIFTS…
 Social
 Over Friendly
 Full of joy
 Love music
RECOMMENDATIONS…
 Stay alert
 Weekly checkups
 Get as much help as possible
 Hope for the best
WHO HAS IT…
Affects an estimated amount of 1 out of 7,500 to 20,000 people.
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>.
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Williams Syndrome

  • 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
  • 9. GIFTS…  Social  Over Friendly  Full of joy  Love music
  • 10. RECOMMENDATIONS…  Stay alert  Weekly checkups  Get as much help as possible  Hope for the best
  • 11. WHO HAS IT… Affects an estimated amount of 1 out of 7,500 to 20,000 people.
  • 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>.
  • 13. ANY QUESTIONS? To pass: ASK A QUESTION !!! Ask it right get candy. Thank you for listening