Description:
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.
My Approach:
While pseudoachondroplasia is an uncommon condition, I have treated many children and adults with this form of skeletal dysplasia. My approach includes treatment options listed below, that are essential to maintain the best joint and limb health in pseudoachondroplasia:
- Physical therapy to strengthen muscles
- Using the child's growth to straighten the bone with minimal surgery, if possible.
- Maintaining normal limb alignment, through modification of growth and/or cutting the bone.
- Deepening the socket of the hip joint, when possible
- Limb lengthening with external devices or internal rods are reserved for those individuals who wish to have this procedure
- Surgical correction of the scoliosis/kyphosis and/or cervical instability.
I will aggressively maintain the alignment of the limbs. This is done with judicial use of growth modulation and osteotomies (cutting of the bone) to maintain normal alignment.
Spinal deformity is often necessary and is treated as any scoliosis/kyphosis but has many special considerations. This can range from physical therapy to neck and back spinal deformity correction.
Treating cervical spine (neck) instability with C1-C2 fusion when needed, with, most often, the avoidance of an external Halo.
While I do not encourage lengthening of the limbs in pseudoachondroplasia, I do perform this surgery when patients want this at the same time deformity correction is performed.
Patient Stories
More Information:
Pseudoachondroplasia is misnamed. While it is a form of 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.
Cause:
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.
Diagnosis Methods:
Clinical examination paired with genetic confirmation.
Treatments:
There are many treatments, including those below, that are essential to maintain the best joint and limb health in pseudoachondroplasia, and each is used when needed
- Physical therapy to strengthen muscles
- Using the child's growth to straighten the bone with minimal surgery
- Cutting the bone to straighten the limb
- Deepening the socket of the hip joint
- 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.
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.
