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GTR Home > Conditions/Phenotypes > Multiple Epiphyseal Dysplasia, Dominant

Summary

Excerpted from the GeneReview: Multiple Epiphyseal Dysplasia, Autosomal Dominant
Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children report fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.

Available tests

8 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: DIPOA, EDM5, HOA, OADIP, OS2, SEMDBCD, MATN3
    Summary: matrilin 3

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