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