International nosology and classification of constitutional disorders of bone (2001)

Am J Med Genet. 2002 Nov 15;113(1):65-77. doi: 10.1002/ajmg.10828.


The last International Classification of Constitutional Disorders of Bone was published in 1998. Since then rapid advances have been made in identifying the molecular changes responsible for defined conditions and new disorders are constantly being delineated. For these reasons a further update on the classification is appropriate. It has been expended to not only the osteochondrodysplasias (33 groups) but also genetically determined dysostoses (3 groups).

MeSH terms

  • Bone Diseases, Developmental / classification*
  • Bone Diseases, Developmental / genetics
  • Chromosome Mapping*
  • Humans
  • Osteochondrodysplasias / classification
  • Osteochondrodysplasias / genetics