Williams Syndrome Mary Bystrek Williams Syndrome n n

Williams Syndrome Mary Bystrek

Williams Syndrome n n n Autosomal dominant disorder Occurs in approximately one of every 20, 000 births Variability in expressivity www. specialchild. com/ archives/dz-004. html

Overall Cause n n Spontaneous deletion on chromosome band 7 q 11. 23. Deletion removes more than 20 genes that encode for different functions. www. turkotek. com/ salon_00097/salon. html

Problems associated with WS n Heart & Blood Vessel Defects ¨ Supravalvular aortic stenosis ¨ High blood pressure ¨ Hypertension ¨ Hypercalcemia www. aic. cuhk. edu. hk/ web 8/Heart%20 diagrams. htm

Problems associated with WS n Vascular & Connective Tissue Deficiency ¨ Gene n that encodes for elastin is deleted Kidney Defects ¨ Stenosis n of the renal arteries Hernias ¨ Groin & umbilical hernias are more frequent in WS patients.

Psychological Effects n n Mental Retardation Behavior Characteristics ¨ n n “Cocktail Party” personality Memory loss Learning Disabilities Neurological Problems Auditory & Verbal Sensitive hearing ¨ Amazing musical abilities ¨ msnbc. msn. com/id/3069769/

Physical Characteristics n n Facial Characteristics Growth Voice Dental Abnormalities home. sc. rr. com/cmindel/

Diagnosis n FISH (fluorescent in situ hybridization) ¨ Most common method of testing for WS ¨ Analyzes specialized chromosomes by using specially prepared elastin probes ¨ The FISH test will show only one copy of the elastin gene in patients with WS. ¨ Detects deletion of the gene more than 98% of the time

Treatment n n www. williams. ngo. hu/ udvozlet/zsofi. jpg No actual cure Support groups, including the Williams Syndrome Association Therapies (music, horseback riding, etc. ) Special teacher & parent info

References 1. 2. 3. 4. 5. 6. 7. 8. 9. Bower, Bruce. (2004). A Very Spatial Brain Defect. Science News, Vol. 166, Iss. 11. 165 – 167. Cagle et al. (2004). Severe Infantile hyperclacemia Associated With Williams Syndrome Successfully Treated With Intravenously Administered Pamidronate. Pediatrics, Vol. 114 No. 4, 1091 -1095. Dhillon et al. (1998). Acquired coarctation of the aorta in Williams Syndrome. Heart, 80, 205 -207. Doyle et al. (2004). “Everybody in the world is my friend” hypersociability in young children with Williams syndrome. American Journal of Medical Genetics, 124 (3), 263 -273. Eronen et al. (2002). Cardiovascular manifestations in 75 patients with Williams syndrome. Journal of Medical Genetics, 39, 554 -558. Fanconi et al. (1952). Chronische Hypercalcaemie. Helv. Paediat. Acta, 7, 314 -334. Kaplan et al. (1995). Cerebral artery stenoses in Williams syndrome cause strokes in childhood. Journal of Pediatrics. , 126, 943 – 945. Pasternak, J. J. An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases. 2 nd ed. New Jersey: Wisley, 2005. pp 543 – 545. Williams Syndrome Association: http: //www. williams-syndrome. org