Spondyloepiphyseal Dysplasia Follow-up

Updated: Nov 02, 2015
  • Author: Shital Parikh, MD; Chief Editor: Dennis P Grogan, MD  more...
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Common conditions associated with SED include the following:

  • Neck instability
  • Spinal deformities such as scoliosis, kyphosis, or lordosis
  • Ocular abnormalities such as myopia or retinal detachment
  • Hearing deficits
  • Hip deformities including coxa vara, capital femoral epiphyseal involvement
  • Equinovarus foot
  • Degenerative joint disease of the hips, knees, or shoulders


SED is nonlethal, and life expectancy is not reduced. However, morbidity is increased, and regular monitoring and follow-up care should be encouraged.

Patients with SED live as long as people without SED. They can have families and are able to contribute to society. They should be encouraged to live a productive and active life.


Patient Education

A clinical geneticist may be of help to provide counseling to the family. The proper establishment of the mode of inheritance aids in genetic counseling.

Patients with neck instability should be advised regarding activity restrictions (see Activity).

Dwarfism resource sites include LPA Online and Dwarfism.org. These comprehensive sites provide information on various organizations, specialized equipment, and tips on activities of daily living.