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

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 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

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
PolygeneticMultifactorial
Syndromes
Cleft lip + Palate
Pierre –Robin Sequence/syndrome
Sporadic syndromes
Goldenhar Syndrome
Goldenhar Syndrome