Genetics, AND Syndromes of adults and paedia.pptx

Genetics, AND Syndromes of adults and paediatrics

1. Genetics and Syndromes

2. Genetic syndromes

3. Down syndrome Characteristic facies

4. Flat occiput with protruding tongue

5. Brushfield spots Eye features Upward slant Epicanthal folds Single palmar crease Sandle gap Hypotonia Large fissured tongue

6. Genetics summery

7. Clinical features summery

8. Complications

9. Management

10. Edward syndrome

11. Trisomy 18 on karyotyping

12. Patau syndrome Polydactyly

13. Trisomy 13

14. Turner’s syndrome

15. Single X chromosome only in the sex chromosome pair 45, XO

16. Low posterior hairline Webbing of neck Shield chest – widely space nipples

17. Cubitus varus deformity Edema of dorsum of feet and hands Low hairline with excessive fold of skin in neck

18. Coarctation of aorta Rudimentary ovaries

19. Turner – Summery

20. Autosomal dominant disorders

21. Autosomal dominant disorders Achondroplasia

22. Ehlers- Danlos syndrome Hypermobile joints Stretchable skin

23. Tuberous sclerosis Ash leaf macules Shagreen patch Adenoma sebaceum

24. Arm span > height Arachnodactyly with several signs elicited

25. Noonan syndrome

26. Autosomal recessive disorders

27. Autosomal recessive disorders Congenital adrenal hyperplasia Ambiguous female genitalia

28. Cystic fibrosis Defective mucociliary clearance

29. Albinism

30. Phenylketonuria

31. Characteristic facies with rash and blond hair

32. Sickle cell disease Sickle cells in blood picture

33. Characteristic facial appearance in poorly managed cases Frontal bossing / malar prominence / crowded teeth

34. X-Linked Recessive Inheritance

35. X linked recessive Colour blindness Ishihara charts

36. Duchenne muscular syndrome Calf pseudohypertrophy

37. Gower’s sign