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Epiphyseal dysplasia, multiple, 6

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Description

Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early 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.

GeneReviews

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

18

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Genes

External Links

  • OMIM

    614135

  • Orphanet
  • HPO
  • Medgen

    C2675767

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