Gene-environment interactions in rare diseases that include common birth defects

Birth Defects Res A Clin Mol Teratol. 2005 Nov;73(11):865-7. doi: 10.1002/bdra.20193.


Rare syndromes often feature specific types of birth defects that frequently are major diagnostic clues to the presence of a given disorder. Despite this specificity, not everyone with the same syndrome is equally or comparably affected, and not everyone with a specific birth defect manifests the same syndrome or is affected with all the features of a particular syndrome. A symposium sponsored by the National Institutes of Health Office of Rare Diseases, and the National Toxicology Program Center for the Evaluation of Risks to Human Reproduction attempted to explore how much of this variability is due to genetic factors and how much is due to environmental factors. The specific types of birth defects examined included cardiovascular defects, holoprosencephaly, clefts of the lip and/or palate, neural tube defects, and diaphragmatic hernias.

Publication types

  • Congress

MeSH terms

  • Abnormalities, Drug-Induced / genetics
  • Animals
  • Congenital Abnormalities / diagnosis
  • Congenital Abnormalities / etiology
  • Congenital Abnormalities / genetics*
  • Environmental Exposure / adverse effects*
  • Gene Expression Regulation, Developmental / drug effects
  • Genetic Predisposition to Disease
  • Humans
  • National Institutes of Health (U.S.)
  • Rare Diseases / chemically induced
  • Rare Diseases / diagnosis
  • Rare Diseases / genetics*
  • Syndrome
  • Teratogens / toxicity*
  • United States


  • Teratogens