Spondyloepiphyseal dysplasia is a rare hereditary disorder characterized by growth deficiency, spinal malformations, and, in some cases, ocular abnormalities.
X rays may be used to diagnose spondyloepiphyseal dysplasia when it is suspected.
Prognosis is variable dependent upon severity of the disorder. Generally, congenital spondyloepiphyseal dysplasia is more symptomatic than spondyloepiphyseal dysplasia tarda. Neither form of the disorder generally leads to shortened life span. Cognitive function is generally normal.
Spondyloepiphyseal dysplasia tarda Treatment is mostly symptomatic, and may include: * Physical therapy to relieve joint stiffness and pain. * Orthopedic care may be needed at different times throughout life. Bone changes of the femoral head often lead to secondary osteoarthritis during adulthood and some patients require total replacement of the hip before the age of 40 years. Some individuals with short stature resulting from spondyloepiphyseal dysplasia may consider limb-lengthening surgery. This is a controversial surgery that lengthens leg and arm bones by cutting the bones, constructing metal frames around them, and inserting pins into them to move the cut ends apart. New bone tissue fills in the gap. While the surgery can be effective in lengthening limbs, various complications may occur.