Spondyloepiphyseal dysplasia patients usually have a short stature due to the abnormal growth of the spine and long bones. There is flattening of the vertebral bodies with irregular epiphysis, and the disc spaces are narrow.

They usually present with rhizomelic dwarfism, a short neck, a pendulous abdomen, and a waddling gait.

Early osteoarthritic changes of the hip joints and coxa vara are also seen.

The hands are normal.