We are independent & ad-supported. We may earn a commission for purchases made through our links.

Advertiser Disclosure

Our website is an independent, advertising-supported platform. We provide our content free of charge to our readers, and to keep it that way, we rely on revenue generated through advertisements and affiliate partnerships. This means that when you click on certain links on our site and make a purchase, we may earn a commission. Learn more.

How We Make Money

We sustain our operations through affiliate commissions and advertising. If you click on an affiliate link and make a purchase, we may receive a commission from the merchant at no additional cost to you. We also display advertisements on our website, which help generate revenue to support our work and keep our content free for readers. Our editorial team operates independently from our advertising and affiliate partnerships to ensure that our content remains unbiased and focused on providing you with the best information and recommendations based on thorough research and honest evaluations. To remain transparent, we’ve provided a list of our current affiliate partners here.

What is Diastrophic Dysplasia?

Mary McMahon
Updated May 17, 2024
Our promise to you
WiseGeek is dedicated to creating trustworthy, high-quality content that always prioritizes transparency, integrity, and inclusivity above all else. Our ensure that our content creation and review process includes rigorous fact-checking, evidence-based, and continual updates to ensure accuracy and reliability.

Our Promise to you

Founded in 2002, our company has been a trusted resource for readers seeking informative and engaging content. Our dedication to quality remains unwavering—and will never change. We follow a strict editorial policy, ensuring that our content is authored by highly qualified professionals and edited by subject matter experts. This guarantees that everything we publish is objective, accurate, and trustworthy.

Over the years, we've refined our approach to cover a wide range of topics, providing readers with reliable and practical advice to enhance their knowledge and skills. That's why millions of readers turn to us each year. Join us in celebrating the joy of learning, guided by standards you can trust.

Editorial Standards

At WiseGeek, we are committed to creating content that you can trust. Our editorial process is designed to ensure that every piece of content we publish is accurate, reliable, and informative.

Our team of experienced writers and editors follows a strict set of guidelines to ensure the highest quality content. We conduct thorough research, fact-check all information, and rely on credible sources to back up our claims. Our content is reviewed by subject matter experts to ensure accuracy and clarity.

We believe in transparency and maintain editorial independence from our advertisers. Our team does not receive direct compensation from advertisers, allowing us to create unbiased content that prioritizes your interests.

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.

WiseGeek is dedicated to providing accurate and trustworthy information. We carefully select reputable sources and employ a rigorous fact-checking process to maintain the highest standards. To learn more about our commitment to accuracy, read our editorial process.
Mary McMahon
By Mary McMahon

Ever since she began contributing to the site several years ago, Mary has embraced the exciting challenge of being a WiseGeek researcher and writer. Mary has a liberal arts degree from Goddard College and spends her free time reading, cooking, and exploring the great outdoors.

Discussion Comments

By anon314013 — On Jan 15, 2013

I want to know how old does someone have to be to get diastrophic dysplasia.

Mary McMahon

Mary McMahon

Ever since she began contributing to the site several years ago, Mary has embraced the exciting challenge of being a...

Learn more
WiseGeek, in your inbox

Our latest articles, guides, and more, delivered daily.

WiseGeek, in your inbox

Our latest articles, guides, and more, delivered daily.