Pseudoachondroplasia

Pseudoachondroplasia is a rare, inherited disorder that affects bone growth and results in short stature. This condition is a form of short stature that is not evident at birth but becomes apparent in early childhood. The average adult height for individuals with pseudoachondroplasia is about 120 centimeters (4 feet).

Signs and Symptoms[edit | edit source]

People with pseudoachondroplasia have normal facial features, head size, and intelligence. This condition does not affect the development of the skull or the brain. However, individuals with pseudoachondroplasia have short arms and legs and a narrow chest with prominent shoulder blades. Other skeletal signs and symptoms include a limited range of motion in the elbows and hips, and an inward- and downward-turning foot (called clubfoot).

Causes[edit | edit source]

Pseudoachondroplasia is caused by mutations in the COMP gene. This gene provides instructions for making a protein that is found in the spaces between cells where it interacts with other proteins to form the extracellular matrix. This matrix lends strength and flexibility to tissues throughout the body.

Diagnosis[edit | edit source]

The diagnosis of pseudoachondroplasia is typically made based on a thorough clinical evaluation, a detailed patient history, and specialized tests such as advanced imaging techniques.

Treatment[edit | edit source]

There is currently no cure for pseudoachondroplasia. Treatment is symptomatic and supportive. Physical therapy may be beneficial for some affected individuals. Additional treatment is symptomatic and supportive.

References[edit | edit source]

Pseudoachondroplasia Resources
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