Transcript Craniofacial Disorders

Craniofacial
Disorders
Julie A. Dunlap, MS, CCC-SLP
SPHSC 543
Winter 2010
Genetic Diseases
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~3-4% of all children are born with a major genetic
or congenital disease
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Not only extremely rare diseases
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Importance of correct diagnosis
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Variability of expression
Chromosomal
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Microscopically detectable cytogenetic aberrations
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Arises early in gestation
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Most frequently de novo events and are not
inherited
Single Gene or Monogenic
Single Gene or Monogenic
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Transmitted according to Mendelian laws of
inheritance
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Includes a large number of rare diseases,
syndromes or morphological traits
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Dominant, recessive or X-linked conditions may be
associated with a high risk of recurrence.
Polygenic-Multifactorial
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Includes relatively common developmental defects
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Have familial occurrence that cannot be attributed
to change alone or solely to the action of
environmental influences
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Have patterns of transmission that do not follow
Mendelian laws of inheritance
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May include birth defects such as congenital heart
disease, anencephaly, spina bifida, and cleft
lip/palate
Autosomal Dominant/Recessive
X-Linked Dominant/Recessive
Environmental-Genetic Interactions -Teratogens
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Examples include:
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Physical agents (radiation)
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Infectious agents (rubella)
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Maternal conditions (diabetes)
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Maternal diet/drugs (alcohol/mood enhancers)
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Uterine factors (amniotic bands)
Teratogens
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Fetal susceptibility
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Dose relationship
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Hereditary predisposition
Chromosomal
Syndromes
Down Syndrome (Trisomy 21)
Fragile X Syndrome
Turner Syndrome
Single Gene Syndromes
Autosomal Dominant Diseases
Apert Syndrome
Apert Syndrome
Apert Syndrome
Crouzon Syndrome
Ectrodactyly-Ectodermal DysplasiaClefting Syndrome (EEC Syndrome)
Neurofibromatosis
Neurofibromatosis
Neurofibromatosis
Noonan Syndrome
Stickler Syndrome
Treacher Collins Syndrome
Van Der Woude Syndrome
Autosomal Recessive
Oro-Facial-Digital Syndrome Type II
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Dx made on the basis of oral, facial and digital
anomalies
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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
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Type II – autosomal recessive, occurs in both sexes
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Hearing
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Speech
X-linked Diseases
Oto-Palatal-Digital Syndrome
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Variable manifestations
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Cleft palate
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Hearing
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Speech
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Bone
PolygeneticMultifactorial
Syndromes
Cleft lip + Palate
Pierre –Robin Sequence/syndrome
Sporadic syndromes
Goldenhar Syndrome
Goldenhar Syndrome