Spondyloepiphyseal dysplasia tarda (SEDT) is a rare disease that begins when a person is a teenager or an adult. Someone with SEDT will be shorter than most other people. SEDT also causes a person’s arms and torso to be short. The torso is the half of the body above the waist. Someone with SEDT will have a barrel-chest. Someone with a barrel-chest will have a larger chest than most other people.
Someone born with SEDT may not experience symptoms until puberty. When puberty starts, a person with SEDT will typically have a short neck, spine growth problems, and early-onset progressive osteoarthritis of the knees and hips. Progressive osteoarthritis causes the cartilage (a protective cushion between bones) to wear away. Progressive osteoarthritis usually begins in late adulthood, but in SEDT it occurs when a person is a teenager.
Some symptoms of SEDT may appear before puberty. These include flat vertebrae and growth problems in the femur (thigh bone). The spine is a series of bones that run along a person’s back. The individual bones of the spine are called vertebrae.
SEDT is passed down from parents to their children through genes. Genes are sections of DNA that act as the body’s instruction manual. A person receives genes from both parents. SEDT is inherited in an autosomal dominant pattern. This means that even if only one parent has a changed (mutated) gene causing SEDT, and the parent passes that gene down to the child, the child will have the disease. If you or a family member has been diagnosed with spondyloepiphyseal dysplasia tarda, talk to your doctor about the most current treatment options. Support groups are also good sources of support and information.