types

Last reviewed 01/2018

The main types of multiple epiphyseal dysplasia are:

  • pseudochondroplasia:
    • caused by a mutation in the COMP gene

  • MED severe:
    • caused by a mutation in the COMP gene

  • MED mild:
    • caused by a mutation in the type IX collagen gene

Reference:

  • Wordsworth, P, Halliday, D. (2001). The real connective tissue diseases. Clinical Medicine, 1, 1, 21-4