Spondyloepiphyseal Dysplasia Health Article

Definition

Spondyloepiphyseal dysplasia is a rare hereditary disorder characterized by growth deficiency, spinal malformations, and, in some cases, ocular abnormalities.

Description

Spondyloepiphyseal dysplasia is one of the most common causes of short stature. There are two forms of spondyloepiphyseal dysplasia. Both forms are inherited and both forms are rare.

Congenital spondyloepiphyseal dysplasia

Treatment is mostly symptomatic, and may include:

• Orthopedic care throughout life. Early surgical interventional may be needed to correct clubfoot and/or cleft palate. Hip, spinal, and knee complications may occur, and hip replacement is sometimes warranted in adults. Additionally, arthritis may develop due to poorly developed type II collagen. Spinal fusion may be indicated if evaluation of the cervical vertebrae C1 and C2 detects odontoid hypoplasia. If the odontoid is hypoplastic or small, it may predispose to instability and spinal cord compression in congenital spondyloepiphyseal dysplasia).
• Ophthalmologic examinations are important for the prevention of retinal detachment and treatment of myopia and early retinal tears if they occur.
• Hearing should be checked and ear infections should be closely monitored. Tubes may need to be placed in the ear.
• Due to neck instability, persons with SEDC should exercise caution to avoid activities/sports that could result in trauma to the neck or head.

Individuals with congenital spondyloepiphyseal dysplasia should be closely monitored during anesthesia and for complications during a respiratory infection. In particular, during anesthesia, special attention is required to avoid spinal injury resulting from lax ligaments causing instability in the neck. This condition may also result in spinal injury in contact sports and car accidents. Chest constriction may also cause decreased lung capacity.

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.

Genetic profile

Both forms of the disorder are inherited, however they are inherited differently.