Vol. 23 No. 1 (2026)
Research Article

Medical and Surgical Concerns in Paediatric Patients with Achondroplasia: A Retrospective Chart Review

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  • Emily R. Martin,
  • Yi Wen Wang,
  • Lucie Dupuis,
  • Maryse Bouchard,
  • Andrew Howard,
  • Roberto Mendoza-Londono
Emily R. Martin
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
Yi Wen Wang
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
Lucie Dupuis
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
Maryse Bouchard
Division of Orthopaedic Surgery, The Hospital for Sick Children, Toronto, Canada
Andrew Howard
Division of Orthopaedic Surgery
Roberto Mendoza-Londono
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
DOI: https://doi.org/10.26443/mjm.v23i1.1097

Published 2026-10-15

Keywords

  • Achondroplasia,
  • Pediatrics,
  • Disease Management

How to Cite

1.
Martin ER, Wang YW, Dupuis L, Bouchard M, Howard A, Mendoza-Londono R. Medical and Surgical Concerns in Paediatric Patients with Achondroplasia: A Retrospective Chart Review. McGill J Med [Internet]. 2026 Oct. 15 [cited 2026 Oct. 16];23(1). Available from: https://mjm.mcgill.ca/article/view/1097

Copyright (c) 2026 Emily R. Martin, Yi Wen Wang, Lucie Dupuis, Maryse Bouchard, Andrew Howard, Roberto Mendoza-Londono

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This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.

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Abstract

Background: Achondroplasia is the most common skeletal dysplasia and is associated with a wide range of medical and surgical comorbidities beyond short stature. Comprehensive descriptions of the clinical manifestations and management of these comorbidities within paediatric populations remain limited. We aimed to describe the spectrum of medical and surgical comorbidities and their management in paediatric patients with achondroplasia seen at a tertiary care centre.

 

Methods: We created a registry of patients seen at the Skeletal Dysplasia Clinic and conducted a retrospective cohort study of 60 patients with achondroplasia seen between January 2018 and October 2021. We collected longitudinal data on referrals, medical concerns, and medical and surgical management.

 

Results: Among the 60 patients included, neurological and orthopedic concerns were commonly observed. Foramen magnum stenosis/cervicomedullary compression required surgery in 37% of patients. Genu varum was treated operatively in 23% of patients. Central sleep apnea affected 25% of patients, and obstructive sleep apnea affected 62%. Fifty-three percent of patients underwent tonsillectomy/adenoidectomy surgery, and 18% received a continuous positive airway pressure (CPAP) machine. Auditory concerns were also prevalent, and myringotomy tubes were inserted in 48% of patients.

 

Conclusion: Paediatric patients with achondroplasia experience a broad range of medical and surgical comorbidities requiring multidisciplinary management. This study describes the spectrum of clinical manifestations and management strategies observed in a tertiary care setting and highlights the complexity of care required for this population.

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