Power point presentation

1. Kelly Curcione Velo-Cardio Facial Syndrome

2. Velo=Velum or soft palate Cardio=cardiac or heart Facial=common facial characteristics Syndrome=a collection of findings that occur together Velo-Cardio Facial Syndrome -A genetic disorder caused by a deletion of a small segment of chromosome 22. VCFS

3. Occurs in approximately 1 in 2,000 births Statistics show :

4. FROM BIRTH DiagnosingVCFS

5. A Blood Test FISH (Fluorescence In Situ Hybridization)

6. What are the common characteristics of someone with VCFS?

8. Suppressed immune functions

9. Palate abnormalities

10. Cleft Palate

11. Chronic upper respiratory infections

12. Hypotonia

14. Psychological or psychiatric problems

15. Kidney abnormalities

16. Could be missing one

17. Characteristic facial appearance

18. Elongated face

19. Cat like eyes

20. Small ears

24. Cardiologist(Heart)

25. Immunologist

26. Audiologist

27. Speech Pathologist

28. Otolaryngologist(ear, nose & throat)

29. Endocrinologist (glands)

30. Craniofacial/Cleft Surgeon

31. Learning/educational specialist

33. With the appropriate care and intervention, most children with VCFS become productive and successful individuals who are capable, self-sufficient, and have careers and families of their own. Diagnosing VCFS is the first step toward obtaining effective treatment. Characteristics differ from person to person and by age. Being aware is the key!

34. With technology today, there is still hope for a cure! KNOWLEDGE IS POWER!

36. FACES: The National Craniofacial Association

37. 22Q and You Center

38. Chromosome 22 Central

39. Genetic and Rare Diseases Information Center