Genetic disorders of the skeleton: a developmental approach

Am J Hum Genet. 2003 Sep;73(3):447-74. doi: 10.1086/377110. Epub 2003 Jul 31.


Although disorders of the skeleton are individually rare, they are of clinical relevance because of their overall frequency. Many attempts have been made in the past to identify disease groups in order to facilitate diagnosis and to draw conclusions about possible underlying pathomechanisms. Traditionally, skeletal disorders have been subdivided into dysostoses, defined as malformations of individual bones or groups of bones, and osteochondrodysplasias, defined as developmental disorders of chondro-osseous tissue. In light of the recent advances in molecular genetics, however, many phenotypically similar skeletal diseases comprising the classical categories turned out not to be based on defects in common genes or physiological pathways. In this article, we present a classification based on a combination of molecular pathology and embryology, taking into account the importance of development for the understanding of bone diseases.

Publication types

  • Review

MeSH terms

  • Animals
  • Body Patterning
  • Bone Diseases, Developmental / classification
  • Bone Diseases, Developmental / embryology
  • Bone Diseases, Developmental / genetics*
  • Humans