Pseudoachondroplasia

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Pseudoachondroplasia
Pseudoachondroplasia. Shoulders and Humeri. Note the dysplastic proximal humeral epiphyses, metaphyseal broadening, irregularity and metaphyseal line of ossification. These changes are collectively known as "rachitic-like changes". Lesions are bilateral and symmetrical.
Specialty	Medical genetics

Pseudoachondroplasia is an inherited disorder of bone growth.^[1] It is a genetic autosomal dominant disorder. 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.^[2]

Pseudoachondroplasia (also known as PSACH, pseudoachondroplastic dysplasia, and pseudoachondroplastic spondyloepiphyseal dysplasia syndrome) is an osteochondrodysplasia that results in mild to severely short stature due to the inhibition of skeletal growth primarily in the limbs.^[2] Though similarities in nomenclature may cause confusion, pseudoachondroplasia should not be confused with achondroplasia, which is a clinically and genetically distinct skeletal dysplasia. Pseudoachondroplasia is caused by a heterozygous mutation in the gene encoding cartilage oligomeric matrix protein (COMP). Mutation in the COMP gene can also cause multiple epiphyseal dysplasia. Despite the radioclinical similarities between pseudoachondroplasia and multiple epiphyseal dysplasia, the latter is less severe.^[3]