Julie A Dunlap MS CCCSLP SPHSC 543 Winter 2010 Genetic Diseases 34 of all children are born with a major genetic or congenital disease Not only extremely rare diseases Importance of correct diagnosis ID: 602371
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Slide1
Craniofacial Disorders
Julie A. Dunlap, MS, CCC-SLP
SPHSC
543
Winter 2010Slide2
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 Slide3
Chromosomal
Microscopically detectable cytogenetic aberrations
Arises early in gestation
Most frequently
de novo
events and are not inheritedSlide4
Single Gene or MonogenicSlide5
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. Slide6
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/palateSlide7
Autosomal Dominant/RecessiveSlide8
X-Linked Dominant/RecessiveSlide9
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)Slide10
Teratogens
Fetal susceptibility
Dose relationship
Hereditary predispositionSlide11
Chromosomal SyndromesSlide12
Down Syndrome (Trisomy
21)Slide13
Fragile X SyndromeSlide14
Turner SyndromeSlide15
Single Gene Syndromes
Autosomal
Dominant DiseasesSlide16
Apert SyndromeSlide17
Apert SyndromeSlide18
Apert SyndromeSlide19
Crouzon SyndromeSlide20
Ectrodactyly-Ectodermal Dysplasia-
Clefting
Syndrome (EEC Syndrome)Slide21
NeurofibromatosisSlide22
NeurofibromatosisSlide23
NeurofibromatosisSlide24
Noonan SyndromeSlide25
Stickler SyndromeSlide26
Treacher Collins SyndromeSlide27
Van Der
Woude
SyndromeSlide28
Autosomal RecessiveSlide29
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
SpeechSlide30
X-linked DiseasesSlide31
Oto-Palatal-Digital Syndrome
Variable manifestations
Cleft palate
Hearing
Speech
BoneSlide32
Polygenetic-Multifactorial
SyndromesSlide33
Cleft lip +
PalateSlide34
Pierre –Robin Sequence/syndromeSlide35
Sporadic syndromesSlide36
Goldenhar SyndromeSlide37
Goldenhar Syndrome