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Craniofacial Disorders

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

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Craniofacial Disorders

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

  2. Genetic 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 Monogenic

  5. Single Gene or Monogenic • 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/Recessive

  8. X-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)

  13. Fragile X Syndrome

  14. Turner Syndrome

  15. Single Gene Syndromes Autosomal Dominant Diseases

  16. Apert Syndrome

  17. Apert Syndrome

  18. Apert Syndrome

  19. Crouzon Syndrome

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

  21. Neurofibromatosis

  22. Neurofibromatosis

  23. Neurofibromatosis

  24. Noonan Syndrome

  25. Stickler Syndrome

  26. Treacher Collins Syndrome

  27. Van DerWoude Syndrome

  28. Autosomal Recessive

  29. Oro-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 Diseases

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

  32. Polygenetic-Multifactorial Syndromes

  33. Cleft lip + Palate

  34. Pierre –Robin Sequence/syndrome

  35. Sporadic syndromes

  36. Goldenhar Syndrome

  37. Goldenhar Syndrome

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