Pseudoachondroplasia is usually first detected by a drop of linear growth in contrast to peers, a waddling gait or arising lower limb deformities.

Pseudoachondroplasia is caused by a heterozygous mutation in the gene encoding cartilage oligomeric matrix protein (COMP).

Patients with pseudoachondroplasia present with gait abnormalities, lower limb deformity, or a retarded growth rate that characteristically appear at age 2–3 years.

Prenatal testing by molecular genetic examination is available if the disease-causing mutation has been identified in an affected family member (Hecht et al. 1995).

Though some chondrocytes do manage to survive, growth is significantly reduced, resulting in the characteristically short limbs and seemingly unaffected face and torso of those inflicted with the disorder (OMIM 2008).

Exact diagnosis remains widely built on precise history taking, with the characteristic clinical and radiographic skeletal features.

However, management of the various health problems that result from the disorder includes medications such as analgesics (painkillers) for joint discomfort, osteotomy for lower limb deformities, and the surgical treatment of scoliosis.

Additionally, healthcare providers recommend treatment for psychosocial issues related to short stature and other physical deformities for both affected individuals and their families (OMIM 2008).

In 1995 the gene responsible for Pseudoachondroplasia was identified by a research team led by Dr. Jacqueline Hecht of The University of Texas-Houston, Health Science Center.

This discovery additionally shed light on the COMP protein, which the team recognized as somehow involved in skeletal growth and height determination (Hetch et al.

This discovery indicated the pathogenesis of Pseudoachondroplasia results from the interactions of the products of the mutant COMP allele with certain “cartilage components,” particularly with type IX collagen (Hetch et al. 1995).