Stead Family Department of Pediatrics

  • Medical Genetics and Congentical Malformations


    A physician should be able to distinguish between genetic and non-genetic congenital disorders, and also recognize genetic diseases presenting later in childhood. A genetic disorder, a condition caused by abnormal genes or chromosomes, should be contrasted with a congenital malformation, one which is apparent at birth and not known to be related to any specific genetic abnormality. Genetic abnormalities may produce congenital malformations, metabolic disturbances, specific organ dysfunction and abnormalities of sexual differentiation. Growth and development may be adversely affected by both genetic disorders and congenital malformations.


    • Discuss the common findings on physical examination and the implications associated with the diagnosis of the following:
      • Autosomal Chromosome abnormalities (e.g. Trisomy 21)
      • Sex Chromosome abnormalities ( e.g. Turner's syndrome, Klinefelter syndrome, Fragile X syndrome)
      • Other genetically transmitted disorders (e.g. Cystic Fibrosis, Sickle Cell Disease)
      • Congenital malformations (e.g. spina bifida)
    • Identify commonly used prenatal diagnostic techniques and their uses ( e.g. ( fetoprotein, amniocentesis).
    • Discuss the effects of teratogenic agents including alcohol, hydantoin, maternal tobacco smoking, illicit drugs and infections (e.g. Rubella, cytomegalovirus).
    • Collect relevant information, including history, family pedigree and physical exam, to evaluate a genetic disorder or congenital defect.