Optimal management of complications associated with achondroplasia

Penny J. Ireland, Verity Pacey, Andreas Zankl, Priya Edwards, Leanne M. Johnston, Ravi Savarirayan

Research output: Contribution to journalReview articleResearchpeer-review

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.

LanguageEnglish
Pages117-125
Number of pages9
JournalApplication of Clinical Genetics
Volume7
DOIs
Publication statusPublished - 24 Jun 2014

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Achondroplasia
International Classification of Functioning, Disability and Health
Pharynx
Growth and Development
Nose
Research
Ear
Health

Bibliographical note

Copyright the Author(s) 2014. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.

Keywords

  • achondroplasia
  • complications
  • management
  • ICF model

Cite this

Ireland, P. J., Pacey, V., Zankl, A., Edwards, P., Johnston, L. M., & Savarirayan, R. (2014). Optimal management of complications associated with achondroplasia. Application of Clinical Genetics, 7, 117-125. https://doi.org/10.2147/TACG.S51485
Ireland, Penny J. ; Pacey, Verity ; Zankl, Andreas ; Edwards, Priya ; Johnston, Leanne M. ; Savarirayan, Ravi. / Optimal management of complications associated with achondroplasia. In: Application of Clinical Genetics. 2014 ; Vol. 7. pp. 117-125.
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Ireland, PJ, Pacey, V, Zankl, A, Edwards, P, Johnston, LM & Savarirayan, R 2014, 'Optimal management of complications associated with achondroplasia', Application of Clinical Genetics, vol. 7, pp. 117-125. https://doi.org/10.2147/TACG.S51485

Optimal management of complications associated with achondroplasia. / Ireland, Penny J.; Pacey, Verity; Zankl, Andreas; Edwards, Priya; Johnston, Leanne M.; Savarirayan, Ravi.

In: Application of Clinical Genetics, Vol. 7, 24.06.2014, p. 117-125.

Research output: Contribution to journalReview articleResearchpeer-review

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