May also be called: Diastrophic Dwarfism; Short-Limbed Dwarfism; Short-Limbed Dysplasia Diastrophic dysplasia (die-UH-strah-fik dis-PLAY-zhee-uh) is a rare genetic disorder that interferes with bone development causing abnormal bone growth and dwarfism (short stature) with very short arms and legs. More to Know During a baby's development in the womb, much of the skeleton is made up of a flexible tissue called cartilage that is converted to bone by a process called ossification. Diastrophic dysplasia affects the body’s ability to form cartilage and bones. This results in shorter bones, short stature, joint and hand deformities, and abnormal curving of the spine (lordosis, scoliosis, or kyphosis). Diastrophic dysplasia is also sometimes associated with cleft palate, clubfeet, and ears with a cauliflower-like appearance. Diastrophic dysplasia is caused by a mutation in a gene responsible for making a protein needed to develop cartilage and convert it to bone. Most of the time, the mutated gene is inherited from one's parents, but in a small number of cases, the mutation happens randomly. There is no specific treatment for diastrophic dysplasia, but complications like scoliosis and clubfeet are often treated with surgery or the use of special braces or shoes to realign the bones. The goal of treatments are to help those who have it maintain mobility and strength. Keep in Mind There is no cure for diastrophic dysplasia, but the symptoms are typically only physical. Most people with diastrophic dysplasia have average intelligence and a normal life expectancy and can expect to lead productive lives. All A to Z dictionary entries are regularly reviewed by KidsHealth medical experts. Back to Articles Related Articles A to Z: Achondroplasia Achondroplasia is a genetic disorder that interferes with bone growth and causes dwarfism (short stature). Read More A to Z: Pituitary Dwarfism Pituitary dwarfism is a condition in which the pituitary gland does not make enough growth hormone, resulting in a child's slow growth pattern and unusually small stature. Read More Dwarfism Dwarfism is characterized by short stature. Many of the possible complications of dwarfism are treatable, and people of short stature lead healthy, active lives. Read More Dwarfism A dwarf is a short-statured person whose adult height is 4 feet 10 inches or under. Find out what happens when a person has dwarfism and why some people are born with it. Read More Genetic Testing Advances in genetic testing help doctors diagnose and treat certain illnesses. The type of test done depends on which condition a doctor checks for. Read More Kyphosis Your spine, or backbone, normally curves forward gently as it runs up your back. Sometimes, though, someone's back can be rounded too far forward, which is a condition known as kyphosis. Read More Kyphosis Everyone's spine is slightly rounded forward at a gentle angle. If this angle is too pronounced, more than 50 degrees or so, it's called kyphosis, also known as roundback or hunchback. Read More Scoliosis Scoliosis makes a person’s spine curve from side to side. Large curves can cause health problems like pain or breathing trouble. Health care providers treat scoliosis with back braces or surgery when needed. Read More Scoliosis Scoliosis makes a person’s spine curve from side to side. Large curves can cause health problems like pain or breathing trouble. Health care providers treat scoliosis with back braces or surgery when needed. Read More When Your Baby Has a Birth Defect If your child has a birth defect, you don't have to go it alone - many people and resources are available to help you. Read More Birth Defects Some birth defects are minor and cause no problems; others cause major disabilities. Learn about the different types of birth defects, and how to help prevent them. Read More Prenatal Genetic Counseling Genetic counselors work with people who are either planning to have a baby or are pregnant to determine whether they carry the genes for certain inherited disorders. Find out more. Read More Note: All information is for educational purposes only. For specific medical advice, diagnoses, and treatment, consult your doctor. © 1995-2021 KidsHealth®. All rights reserved. Images provided by The Nemours Foundation, iStock, Getty Images, Veer, Shutterstock, and Clipart.com.