Teratogen-induced limb defects

Am J Med Genet. 2002 Oct 15;112(3):297-303. doi: 10.1002/ajmg.10781.


Limb abnormalities are one of the most common and visible phenotypic effects of several human teratogens. The specific effects are different for most teratogens and include effects on limb morphogenesis (thalidomide, warfarin, phenytoin, valproic acid) and the effect of vascular disruption on a limb that had formed normally (misoprostol, chorionic villus sampling, and phenytoin). Either duplication (preaxial polydactyly of hands and feet) or deficiency (absence of thumb) is a common effect of thalidomide; no other human teratogen identified to date has this effect on the developing limb. Procedures during pregnancy, including chorionic villus sampling and dilation and curettage, produce defects of vascular disruption. For common exposures, such as alcohol and cocaine, it has been difficult to confirm objectively the exposure during embryogenesis and to ascribe specific limb defects that are produced. The molecular basis for the limb defects produced by the recognized human teratogens remains unknown.

Publication types

  • Review

MeSH terms

  • Chorionic Villi Sampling / adverse effects
  • Female
  • Humans
  • Limb Deformities, Congenital / chemically induced*
  • Limb Deformities, Congenital / etiology
  • Limb Deformities, Congenital / genetics
  • Male
  • Misoprostol / adverse effects
  • Phenytoin / adverse effects
  • Pregnancy
  • Pregnancy in Diabetics
  • Substance-Related Disorders / complications
  • Teratogens / toxicity*
  • Thalidomide / adverse effects
  • Valproic Acid / adverse effects
  • Warfarin / adverse effects


  • Teratogens
  • Misoprostol
  • Thalidomide
  • Warfarin
  • Valproic Acid
  • Phenytoin