Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history

Julie Hoover-Fong, Moira S. Cheung, Virginia Fano, Lars Hagenas, Jacqueline T. Hecht, Penny Ireland, Melita Irving, Klaus Mohnike, Amaka C. Offiah, Ericka Okenfuss, Keiichi Ozono, Cathleen Raggio, Louise Tofts, Dominique Kelly, Renée Shediac, Wayne Pan, Ravi Savarirayan

Research output: Contribution to journalReview articlepeer-review

Abstract

Achondroplasia, the most common form of disproportionate short stature, is caused by a variant in the fibroblast growth factor receptor 3 (FGFR3) gene. Advances in drug treatment for achondroplasia have underscored the need to better understand the natural history of this condition. This article provides a critical review and discussion of the natural history of achondroplasia based on current literature evidence and the perspectives of clinicians with extensive knowledge and practical experience in managing individuals with this diagnosis. This review draws evidence from recent and ongoing longitudinal natural history studies, supplemented with relevant cross-sectional studies where longitudinal research is lacking, to summarize the current knowledge on the nature, incidence, chronology, and interrelationships of achondroplasia-related comorbidities across the lifespan. When possible, data related to adults are presented separately from data specific to children and adolescents. Gaps in knowledge regarding clinical care are identified and areas for future research are recommended and discussed.

Original languageEnglish (US)
Article number115872
JournalBone
Volume146
DOIs
StatePublished - May 2021

Keywords

  • Achondroplasia
  • Cervicomedullary decompression
  • Fibroblast growth factor receptor 3 (FGFR3)
  • Foramen magnum stenosis
  • Genu varum
  • Natural history
  • Skeletal dysplasia

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Histology
  • Physiology

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