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.
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.
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.
