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.

Disclaimer: The information on this website is to be used for informational and educational purposes only and is not to be used to replace personal consultation with a qualified health professional that is familiar with your individual medical needs. Always consult with a doctor, health-care provider, or therapist before making any medical decisions.