Spondylo-epiphyseal dysplasia (SED) is a heterogeneous disorder involving vertebrae and epiphysis, with sparing of the other components of skeleton.

It results in stunting of growth and premature degenerative arthropathy due to incongruity of joint surfaces. The underlying defect lies in type II collagen.

It has two varieties;

• SED congenita
  presenting at birth with predominant involvement of knees and hips, short neck and vertebral abnormalities at the base of skull

• SED tarda
  where the main abnormality is in the spine, which becomes shortened and stiff. There is often mild curvature of spine and hands may reach down to knees.

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