Achondroplasia: a comprehensive clinical review

Richard M. PauliEmail author View ORCID ID profile

Orphanet Journal of Rare Diseases201914:1

https://doi.org/10.1186/s13023-018-0972-6

Received: 16 September 2018
Accepted: 5 December 2018
Published: 3 January 2019

Abstract

Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50 years, there is still a great deal to be learned about the medical issues that arise secondary to this diagnosis, the manner in which these are best diagnosed and addressed, and whether preventive strategies can ameliorate the problems that can compromise the health and well being of affected individuals. This review provides both an updated discussion of the care needs of those with achondroplasia and an exploration of the limits of evidence that is available regarding care recommendations, controversies that are currently present, and the many areas of ignorance that remain.