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Craniofacial DisordersJulie A. Dunlap, MS, CCC-SLPSPHSC 543Winter 2010Genetic Diseases~3-4% of all children are born with a major genetic or congenital disease Not only extremely rare diseasesImportance of correct diagnosisVariability of expression

ChromosomalMicroscopically detectable cytogenetic aberrationsArises early in gestation Most frequently de novo events and are not inherited

Single Gene or Monogenic

Single Gene or MonogenicTransmitted according to Mendelian laws of inheritanceIncludes a large number of rare diseases, syndromes or morphological traitsDominant, recessive or X-linked conditions may be associated with a high risk of recurrence.

Polygenic-MultifactorialIncludes relatively common developmental defectsHave familial occurrence that cannot be attributed to change alone or solely to the action of environmental influencesHave patterns of transmission that do not follow Mendelian laws of inheritanceMay include birth defects such as congenital heart disease, anencephaly, spina bifida, and cleft lip/palateAutosomal Dominant/Recessive

X-Linked Dominant/Recessive

Environmental-Genetic Interactions -- TeratogensExamples include:Physical agents (radiation)Infectious agents (rubella)Maternal conditions (diabetes)Maternal diet/drugs (alcohol/mood enhancers)Uterine factors (amniotic bands)

TeratogensFetal susceptibility Dose relationship Hereditary predispositionChromosomal SyndromesDown Syndrome (Trisomy 21)

Fragile X Syndrome

Turner Syndrome

Single Gene SyndromesAutosomal Dominant DiseasesApert 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 RecessiveOro-Facial-Digital Syndrome Type IIDx made on the basis of oral, facial and digital anomaliesOFD 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 inheritanceType II autosomal recessive, occurs in both sexesHearingSpeechX-linked DiseasesOto-Palatal-Digital SyndromeVariable manifestationsCleft palateHearingSpeechBone

Polygenetic-Multifactorial SyndromesCleft lip + PalatePierre Robin Sequence/syndrome

Sporadic syndromesGoldenhar Syndrome

Goldenhar Syndrome