Authors
Toby P Candler, Kate Ali, Emma Bewick, Stephanie A Borg, Amish Chinoy, Martyn T Cobourne, Alessandra Cocca, Anita Freeman, Jonathan Gibbins, Emma Gosnell, Mike Harrison, Kathryn Johnson, Mark Latimer, Helen McDevitt, Oliver Murch, Ruchi Nadar, Amaka C Offiah, Chris Parks, Mars Skae, Sarah F Smithson, Ian Tucker, Simona Turcu, Emma A Webb, Michael Wright, Moira S Cheung
Published in
Archives of disease in childhood. Volume 111. Issue 6. Pages 545-557. May 18, 2026. Epub May 18, 2026.
Abstract
Achondroplasia (ACH), the most common skeletal dysplasia, arises from gain-of-function variants in the fibroblast growth factor receptor 3 gene. Children with ACH experience lifelong medical, functional and psychosocial challenges requiring coordinated and anticipatory care. Although international guidance exists, the UK lacks national clinical care recommendations specific to its healthcare systems.
To develop UK-specific, multidisciplinary clinical recommendations for the care of children and young people (CYP) with ACH.
The UK Achondroplasia Network developed guidance in stages: stakeholder mapping of the care pathway, integration of contemporary literature with clinical expertise to draft age-specific guidance and Delphi statements, and a modified Delphi process with 25 multidisciplinary experts. The Delphi process involved two voting rounds and an in-person meeting, with consensus defined as ≥80% agreement.
In the first Delphi round, all 20 statements achieved consensus; nine achieved 100% agreement. To strengthen consensus, after meeting in person, 17 statements were refined (four were divided into two statements), one created and one removed, resulting in 24 statements for Round 2; all achieved consensus, with 21 reaching 100% agreement. The guidance outlines age-specific monitoring and referral from infancy to adolescence. Recommendations address medical management of complications, psychosocial support, educational planning and transfer to adult care.
These are the first UK-specific multidisciplinary recommendations for the care of CYP with ACH. Aligned with international best practices and tailored to UK healthcare systems, they support anticipatory care, promote independence and enhance health and psychosocial outcomes. The guidelines offer a foundation for service planning, standardisation and equitable care.
PMID:
41565440
Bibliographic data and abstract were imported from PubMed on 08 Sep 2026.
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