May also be called: Diastrophic Dwarfism; Short-Limbed Dwarfism; Short-Limbed
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.
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