An inherited bone growth disorder characterized by short stature, a large range of joint mobility, joint pain, deformity of the lower legs and often curvature of the spine.
More Information on Pseudoachondroplasia
Pseudoachondroplasia is misnamed. While it is a skeletal dysplasia and people with this condition are often under four feet, it is very distinct from achondroplasia. The problems noted are very different. Limb deformity is more common than achondroplasia as well as joint arthritis and scoliosis. Spinal stenosis is almost unheard of while C1-C2 instability is common. Foramen magnum stenosis is uncommon and facies are normal.
Pseudoachondroplasia is the result of a genetic mutation in the COMP gene which is a gene involved with the formation of cartilage. The children of an individual with pseudoachondroplasia have a fifty percent chance of inheriting the gene.
Clinical examination paired with genetic confirmation.
There are many treatments that are essential to maintain the best joint and limb health in pseudoachondroplasia.
From physical therapy to strengthen muscles to using the child’s growth to straighten the bone with minimal surgery to cutting the bone to straighten the limb to deepening the socket of the hip joint, each is used when needed. Limb lengthening with external devices or internal rods are reserved for those individuals who wish to have this procedure.
Spinal intervention is often necessary. This can range from physical therapy to neck and back spinal deformity correction.