Pseudoachondroplasia

Pseudoachondroplasia

Pseudoachondroplasia is a rare genetic disorder affecting bone growth. Unlike achondroplasia, individuals with pseudoachondroplasia typically exhibit normal facial features. Symptoms include short stature, joint laxity, and limb deformities. Pseudoachondroplasia is caused by mutations in the COMP gene and is inherited in an autosomal dominant pattern. Diagnosis usually involves genetic testing and orthopaedic assessments.