craniofacial disorders julie a. dunlap, ms, ccc-slp sphsc 543 winter 2010
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Craniofacial DisordersJulie 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
Microscopically detectable cytogenetic aberrations
Arises early in gestation
Most frequently de novo events and are not inherited
Single Gene or Monogenic
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.
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/Recessive
X-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)
Fragile X Syndrome
Turner Syndrome
Single Gene SyndromesAutosomal Dominant Diseases
Apert Syndrome
Apert Syndrome
Apert Syndrome
Crouzon Syndrome
Ectrodactyly-Ectodermal Dysplasia-Clefting 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
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 Diseases
Oto-Palatal-Digital Syndrome
Variable manifestations
Cleft palate
Hearing
Speech
Bone
Polygenetic-Multifactorial Syndromes
Cleft lip + Palate
Pierre –Robin Sequence/syndrome
Sporadic syndromes
Goldenhar Syndrome
Goldenhar Syndrome
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