Back to Journals » The Application of Clinical Genetics » Volume 7

Optimal management of complications associated with achondroplasia

Authors Ireland P, Pacey V, Zankl A, Edwards P, Johnston L, Savarirayan R

Received 9 April 2014

Accepted for publication 30 April 2014

Published 24 June 2014 Volume 2014:7 Pages 117—125

DOI https://doi.org/10.2147/TACG.S51485

Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 3


Penny J Ireland,1 Verity Pacey,2,3 Andreas Zankl,4 Priya Edwards,1 Leanne M Johnston,5 Ravi Savarirayan6

1Queensland Paediatric Rehabilitation Service, Royal Children’s Hospital, Herston, Brisbane, Queensland, 2Physiotherapy Department, The Children’s Hospital at Westmead, Sydney, New South Wales, 3Department of Health Professions, Macquarie University, Sydney, New South Wales, 4Genetic Medicine, Children’s Hospital, Westmead, Sydney, New South Wales, 5School of Health and Rehabilitation Sciences, University of Queensland, Brisbane, Queensland, 6Victorian Clinical Genetics Service, Royal Children’s Hospital, Melbourne, Victoria, Australia

Abstract: Achondroplasia is the most common form of skeletal dysplasia, resulting in disproportionate short stature, and affects over 250,000 people worldwide. Individuals with achondroplasia demonstrate a number of well-recognized anatomical features that impact on growth and development, with a complex array of medical issues that are best managed through a multidisciplinary team approach. The complexity of this presentation, whereby individual impairments may impact upon multiple activity and participation areas, requires consideration and discussion under a broad framework to gain a more thorough understanding of the experience of this condition for individuals with achondroplasia. This paper examines the general literature and research evidence on the medical and health aspects of individuals with achondroplasia and presents a pictorial model of achondroplasia based on The International Classification of Functioning, Disability, and Health (ICF). An expanded model of the ICF will be used to review and present the current literature pertaining to the musculoskeletal, neurological, cardiorespiratory, and ear, nose, and throat impairments and complications across the lifespan, with discussion on the impact of these impairments upon activity and participation performance. Further research is required to fully identify factors influencing participation and to help develop strategies to address these factors.

Keywords: achondroplasia, complications, management, ICF model

Creative Commons License This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License. By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

Download Article [PDF]  View Full Text [HTML][Machine readable]