How pain affect real life of children and adults with achondroplasia: A systematic review

Roberta Onesimo, Elisabetta Sforza, Maria Francesca Bedeschi, Chiara Leoni, Valentina Giorgio, Donato Rigante, Cristina De Rose, Eliza Maria Kuczynska, Domenico Marco Romeo, Osvaldo Palmacci, Luca Massimi, Matteo Porro, Michaela Veronika Gonfiantini, Angelo Selicorni, Anna Allegri, Mohamad Maghnie, Giuseppe Zampino

Research output: Contribution to journalArticle


The clinical features of achondroplasia can cause acute self-limited pain that can evolve into chronic pain. Pain causes a low quality of life, in terms of physical, emotional, social, and school functioning in both adult and children with achondroplasia. We conducted a systematic review according to the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) statement to describe prevalence, assessment tools, causes and management strategies of pain in this rare disease. We found that shoulder and knee pain is typically referred during infancy, while knee pain is generally referred around 5–6 years of age. The prevalence of general pain in adolescence can be as high as 90%. Chronic pain in the achondroplasia population increases with age, with up to 70% of adults reporting general pain and back pain. Recognizing the multiple determinants of acute and chronic pain in patients with achondroplasia may enable physicians to better understand and manage this burden, particularly with the advent of new drugs that may modify some of the striking features of achondroplasia.
Original languageEnglish
Pages (from-to)1-9
Number of pages9
JournalEuropean Journal of Medical Genetics
Publication statusPublished - 2023


  • Achondroplasia
  • Acute pain
  • Skeletal dysplasia
  • European reference network
  • Chronic pain


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