Dyggve-Melchior-Clausen syndrome

Last reviewed 01/2018

This dysplastic syndrome is characterised by:

  • short stature
  • short trunk
  • barrel chest
  • accentuated lumbar lordosis
  • restricted joint mobility
  • waddling gait
  • in some families this condition has been associated with mental retardation.

X-ray reveals this to be a spondyloepiphyseal dysplasia. The vertebral bodies are flat and anteriorly beaked, there is a fine degree of ossification above the iliac crest, and irregularities of the small carpal and metacarpal bones.