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

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

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

Single Gene or MonogenicSingle 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.

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

Autosomal Dominant/RecessiveAutosomal Dominant/Recessive

X-Linked Dominant/RecessiveX-Linked Dominant/Recessive

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)

Teratogens  Fetal susceptibility  Dose relationship  Hereditary predisposition

Chromosomal Syndromes

Down Syndrome (Trisomy 21)Down Syndrome (Trisomy 21)

Fragile X SyndromeFragile X Syndrome

Turner SyndromeTurner Syndrome

Single Gene SyndromesSingle Gene Syndromes Autosomal Dominant Diseases

Apert SyndromeApert Syndrome

Crouzon SyndromeCrouzon Syndrome

Ectrodactyly-Ectodermal Dysplasia- Clefting Syndrome (EEC Syndrome)

Neurofibromatosis

Neurofibromatosis

Neurofibromatosis

Noonan SyndromeNoonan Syndrome

Stickler SyndromeStickler Syndrome

Treacher Collins SyndromeTreacher Collins Syndrome

Van Der Woude SyndromeVan Der Woude Syndrome

Autosomal RecessiveAutosomal Recessive

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

X-linked DiseasesX-linked Diseases

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

Polygenetic- Multifactorial Syndromes

Cleft lip + PalateCleft lip + Palate

Pierre –Robin Sequence/syndromePierre –Robin Sequence/syndrome

Sporadic syndromesSporadic syndromes

Goldenhar SyndromeGoldenhar Syndrome