The type II collagenopathies: a spectrum of chondrodysplasias

Eur J Pediatr. 1994 Feb;153(2):56-65. doi: 10.1007/BF01959208.


With the application of molecular techniques the aetiopathogenesis of skeletal dysplasias is gradually elucidated. Recent advances show that some bone dysplasias result from defects in the biosynthesis of type II (cartilage) collagen. Clinical entities caused by mutations in the COL2A1 gene coding for type II collagen comprise achondrogenesis II, hypochondrogenesis, spondyloepiphyseal dysplasia congenita, Kniest dysplasia, Stickler arthroophthalmopathy and mild dominant spondyloarthropathy. The mutations are expressed in the heterozygous state, and inheritance of type II collagenopathies is autosomal dominant. The wide range of clinical manifestations is not well understood but characterization of the basic defect may provide clues to establish specific genotype-phenotype correlations.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Collagen Diseases* / diagnosis
  • Collagen Diseases* / diagnostic imaging
  • Collagen Diseases* / genetics
  • Humans
  • Osteochondrodysplasias* / diagnosis
  • Osteochondrodysplasias* / diagnostic imaging
  • Osteochondrodysplasias* / genetics
  • Osteochondrodysplasias* / metabolism
  • Radiography