GTR Home > Conditions/Phenotypes > Multiple epiphyseal dysplasia 3

Disease characteristics

Excerpted from the GeneReview: Multiple Epiphyseal Dysplasia, Dominant
Autosomal dominant multiple epiphyseal dysplasia (MED) presents early in childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of 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

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Associated genes

Clinical features

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  • Irregular epiphyses
  • Small epiphyses
  • Delayed epiphyseal ossification
  • Mild short stature
  • Abnormality of the hip joint
  • Epiphyseal dysplasia
  • Osteoarthritis
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness
  • Short metacarpal
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