Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: Molecular Genetics, Disease Mechanisms and Therapeutic Targets

Abstract

Genetic skeletal diseases (GSDs) are a diverse and complex group of over 450 rare diseases that affect the development and homoeostasis of the skeleton. Although individually rare, as a group of related genetic skeletal diseases, they have an overall prevalence of at least 1 per 4000 children, which extrapolates to a minimum of 225,000 people in the European Union, and this extensive burden in pain and disability leads to poor quality of life and high healthcare costs.