1. Craniofacial Disorders Julie A. Dunlap, MS, CCC-SLP SPHSC 543 Winter 2010

2. Genetic DiseasesGenetic Diseases  ~3-4% of all children are born with a major genetic or congenital disease  Not only extremely rare diseases  Importance of correct diagnosis  Variability of expression

3. Chromosomal  Microscopically detectable cytogenetic aberrations  Arises early in gestation  Most frequently de novo events and are not inherited

4. Single Gene or MonogenicSingle Gene or Monogenic

5.  Transmitted according to Mendelian laws of inheritance  Includes a large number of rare diseases, syndromes or morphological traits  Dominant, recessive or X-linked conditions may be associated with a high risk of recurrence.

6. Polygenic-Multifactorial  Includes relatively common developmental defects  Have familial occurrence that cannot be attributed to change alone or solely to the action of environmental influences  Have patterns of transmission that do not follow Mendelian laws of inheritance  May include birth defects such as congenital heart disease, anencephaly, spina bifida, and cleft lip/palate

7. Autosomal Dominant/RecessiveAutosomal Dominant/Recessive

8. X-Linked Dominant/RecessiveX-Linked Dominant/Recessive

9. Environmental-Genetic Interactions -- Teratogens  Examples include:  Physical agents (radiation)  Infectious agents (rubella)  Maternal conditions (diabetes)  Maternal diet/drugs (alcohol/mood enhancers)  Uterine factors (amniotic bands)

10. Teratogens  Fetal susceptibility  Dose relationship  Hereditary predisposition

11. Chromosomal Syndromes

12. Down Syndrome (Trisomy 21)Down Syndrome (Trisomy 21)

13. Fragile X SyndromeFragile X Syndrome

14. Turner SyndromeTurner Syndrome

15. Single Gene SyndromesSingle Gene Syndromes Autosomal Dominant Diseases

16. Apert SyndromeApert Syndrome

19. Crouzon SyndromeCrouzon Syndrome

20. Ectrodactyly-Ectodermal Dysplasia- Clefting Syndrome (EEC Syndrome)

21. Neurofibromatosis

22. Neurofibromatosis

23. Neurofibromatosis

24. Noonan SyndromeNoonan Syndrome

25. Stickler SyndromeStickler Syndrome

26. Treacher Collins SyndromeTreacher Collins Syndrome

27. Van Der Woude SyndromeVan Der Woude Syndrome

28. Autosomal RecessiveAutosomal Recessive

29. Oro-Facial-Digital Syndrome Type IIOro-Facial-Digital Syndrome Type II  Dx made on the basis of oral, facial and digital anomalies  OFD type I fibrous band clefting or the alveolar ridges, missing lateral incisors, sparsehair and dry scalp. Not observed in males implying X-linked dominant or sex limited dominant inheritance  Type II – autosomal recessive, occurs in both sexes  Hearing  Speech

30. X-linked DiseasesX-linked Diseases

31. Oto-Palatal-Digital SyndromeOto-Palatal-Digital Syndrome  Variable manifestations  Cleft palate  Hearing  Speech  Bone

32. Polygenetic- Multifactorial Syndromes

33. Cleft lip + PalateCleft lip + Palate

34. Pierre –Robin Sequence/syndromePierre –Robin Sequence/syndrome

35. Sporadic syndromesSporadic syndromes

36. Goldenhar SyndromeGoldenhar Syndrome