What is Diastrophic Dysplasia?

Diastrophic dysplasia, also known as diastrophic dwarfism, is a rare disorder involving the bones, cartilage, and connective tissues of the body. In people with diastrophic dysplasia, the normal formation of bone is disrupted, resulting in dwarfism, as well as damage to the joints. There are some special health risks for people with this condition that can be especially dangerous in infancy.

The genetic origins of this condition lie in the SLC26A2 gene, located on the fifth chromosome. Diastrophic dysplasia is a recessive genetic disorder and someone must inherit the gene from both parents in order to develop dwarfism. This means that children of a diastrophic dwarf will not develop diastrophic dwarfism unless the other parent also carries the gene. Genetic testing and counseling may be helpful for people with diastrophic dwarfism and their parents, although this is certainly not required.

Characteristics of diastrophic dysplasia include short stature and shortened limbs, along with hand and foot deformities. Scoliosis of the spine is common and many patients develop arthritis and other joint problems as a result of damage to the cartilage in the joints. With age, some people with diastrophic dysplasia experience mobility problems and need to use canes, walkers, scooters, or wheelchairs for mobility. People may also develop skull anomalies and the ears of people who have the disorder tend to thicken and change shape over time.

One major concern for people who have the disorder is breathing difficulties caused by variations in the spine. The is especially of concern for infants with the disorder. People of all ages with diastrophic dysplasia can also be at risk during anesthesia. It is recommended that X-rays to visualize the spine be taken before surgical procedures so that the anesthesiologist can complete the intubation safely and correctly. Monitoring for signs of breathing complications during surgical procedures is also important.

This condition can be diagnosed shortly after birth and is sometimes a prenatal diagnosis; parents with one child who has diastrophic dysplasia may opt for prenatal testing with subsequent pregnancies to prepare ahead of time. A dwarfism specialist can provide support and advice to help parents prepare and care for children with diastrophic dwarfism and there are also numerous support groups that include people with diastrophic dysplasia and their families. Women with the disorder can and do have children of their own, although the pregnancy must be monitored with special care and delivery by cesarean section is usually recommended for the safety of mother and child.