What is Spondyloepiphyseal Dysplasia Tarda

Spondyloepiphyseal Dysplasia Tarda (SEDT) is a rare genetic disorder that affects bone and cartilage development. It primarily affects the spine and the ends of long bones, leading to various skeletal abnormalities. Individuals with SEDT typically have a shorter stature and may experience joint pain, stiffness, and limited mobility.

SEDT is characterized by:

• Delayed bone age: The bones of affected individuals mature at a slower rate than usual.


• Short stature: Individuals with SEDT tend to be shorter than average due to the abnormal growth of bones.


• Spinal abnormalities: The vertebrae may be misshapen, leading to spinal curvature (scoliosis) or limited movement.


• Joint problems: Joints can be affected, causing pain, stiffness, and reduced range of motion.

SEDT is caused by mutations in the COL2A1 gene, which provides instructions for producing type II collagen, an essential protein for normal bone and cartilage development. The condition is inherited in an autosomal dominant manner, meaning an affected individual has a 50% chance of passing the condition to their children.

Diagnosis of SEDT involves clinical evaluation, X-rays, and genetic testing. While there is no cure for SEDT, management focuses on alleviating symptoms and improving quality of life. This may involve physical therapy, pain management, assistive devices, and surgical interventions when necessary.