Diastrophic dysplasia is a rare genetic disorder that affects bone, cartilage, and connective tissues, causing dwarfism and joint damage. It is caused by a recessive gene and can be diagnosed prenatally. People with the disorder may have mobility issues and breathing difficulties, and are at risk during anesthesia. Support and advice are available for affected individuals and their families.
Diastrophic dysplasia, also known as diastrophic dwarfism, is a rare disease that affects the bones, cartilage and connective tissues of the body. In people with diastrophic dysplasia, normal bone formation is disrupted, resulting in dwarfism and joint damage. There are some special health risks for people with this condition that can be especially dangerous in childhood.
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 to develop dwarfism. This means that children of a distrophic dwarf will not develop distrophic dwarfism unless the other parent also carries the gene. Genetic testing and counseling can be helpful for people with distrophic dwarfism and their parents, although this is certainly not necessary.
Features 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 due to damage to the cartilage in the joints. As they age, some people with dystrophic dysplasia have mobility issues and need to use canes, walkers, scooters, or wheelchairs for mobility. People can also develop skull abnormalities, and the ears of people who have the disorder tend to thicken and change shape over time.
A major concern for people who have the disorder is breathing difficulties caused by changes in the spine. It is especially concerning for children with the disorder. People of all ages with diastrophic dysplasia may also be at risk during anesthesia. It is recommended that X-rays be taken to visualize the spine before surgical procedures so that the anesthesiologist can safely and correctly complete the intubation. Monitoring for signs of respiratory complications during surgical procedures is also important.
This condition can be diagnosed shortly after birth and is sometimes diagnosed prenatally; parents with a child who has dystrophic dysplasia may opt for prenatal testing with subsequent pregnancies to be prepared in advance. A dwarfism specialist can provide support and advice to help parents prepare for and care for children with diastrophic dwarfism, and there are also a number of support groups that include people with diastrophic dysplasia and their families. Women with the disorder can and do have children of their own, although pregnancy should be monitored especially carefully, and cesarean delivery is usually recommended for the safety of mother and baby.
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