Diastrophic Dysplasia Greenberg Center for Skeletal Dysplasias Diastrophic Dysplasia Diastrophic dysplasia was first characterized by Maroteaux and Lamy in 1960. 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.