Achondroplasia is the most common type of skeletal dysplasia, affecting approximately one in every 25,000 people. It is a form of disproportionate dwarfism that can be diagnosed during fetal development.
If you have a child with achondroplasia, you want him or her to receive comprehensive care from a team of experts. At University of Missouri Health Care, we are the region's experts in treating skeletal dysplasia diseases. We are actively involved with national research for treatments, and the leader of our team, Daniel Hoernschemeyer, MD, sits on the medical advisory board of the Little People of America so he can be actively involved with the issues affecting the health of skeletal dysplasia patients.
People with achondroplasia have shortened limbs, an enlarged head and bowed legs. The mean adult high is 4-foot-3 for men and 4-1 for women. Children with the achondroplasia have hyperlordosis — an inward curve of the spine in the lower back — and commonly suffer from joint instability and elbows that cannot fully extend.
Achondroplasia DIAGNOSIS AND TREATMENT
A diagnosis can be obtained during fetal development after 22 weeks gestation. Routine ultrasound can detect the presence of short limbs, but a diagnosis is confirmed by testing the fetal DNA using amniocentesis.
For families with a history of achondroplasia, amniocentesis or chorionic villus sampling (CVS) may be used to diagnose achondroplasia. However, not all individuals are diagnosed at birth, in which case clinical and radiologic evaluation by an experienced physician may be used to confirm achondroplasia. If a diagnosis is still in doubt following clinic and radiographic evaluations, genetic testing may be necessary.
There is no cure for achondroplasia. Limb-lengthening surgery should only be discussed when the patient is old enough to weigh the risks and benefits. Adaptability products can help people with the condition do daily tasks such as hygiene, driving and reaching household items. Curvature of the spine can be treated with a brace or, less frequently, with spinal fusion surgery. Shoe lifts or inserts can address leg-length discrepancies. Surgery might be necessary to address leg alignment problems.
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