Pseudoachondroplasia

What does the name mean?

“Pseudo” means “false.” Thereby, this disorder is one that resembles, but is clinically distinct from, achondroplasia.

How common is pseudoachondroplasia?

The incidence of pseudoachondroplasia is estimated at 1 in 30,000, however the birth prevalence is not yet known (2).

Is pseudoachondroplasia inherited?

Pseudoachondroplasia can either be inherited in an autosomal dominant inheritance pattern (1). Parental germinal mosaicism is often found, which explains why many affected children have unaffected parents. Mosaicism causes the condition to behave in an autosomal recessive fashion.

What causes pseudoachondroplasia?

Pseudoachondroplasia results from a mutation in the gene coding for cartilage oligomeric matrix protein (COMP) (1). COMP is a normal constituent of the extra-cellular matrix in cartilage, ligaments, and tendons. Defective COMP results in the accumulation of proteoglycans within cartilage cells.

• What are the physical characteristics of Pseudoachondroplasia?
• How is the diagnosis made?
• Problems in the musculoskeletal system
• Problems elsewhere in the body
• What are things to watch out for?
• References