Syndactylies and polydactylies: embryological overview and suggested classification

Eur J Hum Genet. 1993;1(1):96-104. doi: 10.1159/000472392.


In 1978, Temtamy and McKusick classified isolated, non-syndromic polydactyly and syndactyly, using a logical anatomical approach, into five distinct types for each group. Since then, there have been considerable advances in the molecular embryology of the developing limb bud. These include the proposal that retinoic acid and/or related retinoids are the morphogens responsible for the morphogenetic gradient giving rise to anterior-posterior pattern formation of the limb bud, the suggestion that the HOX4 complex and other homeotic genes may also be involved in patterning, and a greater understanding of other mechanisms such as programmed cell death in the shaping of the final hand and foot. This paper briefly reviews the molecular embryology of limb development and outlines the 'end-organ responsiveness' of the limbs to a variety of single-gene mutations. An alternative classification of syndactylies and polydactylies is suggested. It is still too early to match specific defects to individual genes with precision, and it is obvious that many important developmental genes remain to be identified; nevertheless, it is envisaged that clues from molecular embryological studies will become increasingly more useful.

Publication types

  • Review

MeSH terms

  • Animals
  • Apoptosis
  • Chick Embryo
  • Extremities / embryology
  • Fingers / embryology
  • Gene Expression Regulation
  • Genes, Homeobox
  • Humans
  • Morphogenesis / genetics
  • Polydactyly / classification*
  • Polydactyly / embryology*
  • Polydactyly / genetics
  • Receptors, Retinoic Acid / genetics
  • Syndactyly / classification*
  • Syndactyly / embryology*
  • Syndactyly / genetics
  • Toes / embryology
  • Tretinoin


  • Receptors, Retinoic Acid
  • Tretinoin