Scleroprotein and ECM diseases

Pseudoachondroplasia is an inherited disorder of bone growth. It is a genetic autosomal dominant disorder which is linked to mutations in the COMP gen located on chromosome 19. It is generally not discovered until 2–3 years of age, since growth is normal at first. Pseudoachondroplasia is usually first detected by a drop of linear growth in contrast to peers, a waddling gait or arising lower limb deformities.