GTR Home > Conditions/Phenotypes > Multiple epiphyseal dysplasia 5

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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  • Coxa vara
  • Broad femoral neck
  • Gait disturbance
  • Irregular epiphyses
  • Small epiphyses
  • Delayed tarsal ossification
  • Premature osteoarthritis
  • Short femoral neck
  • Metaphyseal irregularity
  • Arthralgia
  • Delayed ossification of carpal bones
  • Limitation of joint mobility
  • Multiple epiphyseal dysplasia
  • Epiphyseal dysplasia
  • Genu valgum
  • Genu varum
  • Micromelia
  • Hypoplasia of the capital femoral epiphysis
  • Arthralgia of the hip
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