What is spondyloepiphyseal dysplasia tarda?

Spondyloepiphyseal dysplasia tarda is an X-linked genetic disorder, meaning males are more commonly and severely affected. It appears in childhood (around age 4) or even adulthood, and may be first diagnosed as Perthes disease, which occurs when the blood supply to the rounded head of the thighbone is interrupted.

This condition is different than spondyloepiphyseal dysplasia congenita because of its milder features. Only the large joints and spine are affected in spondyloepiphyseal dysplasia tarda.

What are the symptoms of spondyloepiphyseal dysplasia tarda?

Children with spondyloepiphyseal dysplasia tarda are shorter than average, but their arm span is longer than their height. As adults, they may grow to be 60 inches or taller.

Back, hip and knee pain are common.

Orthopaedic Conditions in Patients with Spondyloepiphyseal Dysplasia Tarda

Orthopaedic conditions that may occur as a result of spondyloepiphyseal dysplasia tarda vary, even within a family with the condition. Some cases are so mild that a diagnosis is never made.

Some common orthopaedic conditions associated with spondyloepiphyseal dysplasia tarda include:

• Scoliosis. Sideways curvature of the spine
• Cervical (neck) instability
• Hip problems. Misalignment and incomplete coverage of the femoral heads, and early arthritis

Diagnosis of Spondyloepiphyseal Dysplasia Tarda

A doctor makes a diagnosis of spondyloepiphyseal dysplasia tarda with a complete medical history, physical examination and diagnostic tests.

Diagnostic procedures may include:

• X-rays of the spine, pelvis and lower extremities
• Arthrograms. Injection of dye in the hips to assess the cartilage for a preoperative evaluation

Treatment of Spondyloepiphyseal Dysplasia Tarda

Treatment for spondyloepiphyseal dysplasia tarda varies depending on the associated orthopaedic conditions and may include:

• Spinal fusion for scoliosis
• Cervical fusion for instability
• Osteotomy (cutting through bone) for hip problems
• Total hip replacement at an earlier age