Physical features present at birth include short-limbed dwarfism, hitchhiker thumb, and clubfeet. Later, the ears have a cauliflower appearance. Fingers are short and broad with ulnar deviation. The thumb has a hitch-hiker type appearance. There is increased mortality in infancy due to respiratory complications but thereafter, people with diastrophic dysplasia have a normal life span.
Orthopedic problems are common.
Flexion contractures of knees and shoulders are common. Scoliosis is not present at birth but often is progressive, especially in the early teens. Treatment of the scoliosis includes bracing and occasionally, spinal fusion. Progressive cervical kyphosis can also occur with subluxation of the cervical spine which can result in spinal cord compression. The average length at birth is 42cms.