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Types

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

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

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