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. 2025 Mar 11;20(1):114.
doi: 10.1186/s13023-025-03621-7.

Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?

Encarna Guillen-Navarro  1   2 , Moeenaldeen AlSayed  3   4 , Inês Alves  5 , Tawfeg Ben-Omran  6 , Silvio Boero  7 , Valérie Cormier-Daire  8 , Brigitte Fauroux  9 , Svein Fredwall  10 , Melita Irving  11 , Philip Kunkel  12 , Christian Lampe  13 , Ekkehart Lausch  14 , Mohamad Maghnie  15   16 , Klaus Mohnike  17 , Geert Mortier  18 , Zagorka Pejin  8 , Marco Sessa  19 , Sérgio B Sousa  20   21
Affiliations

Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?

Encarna Guillen-Navarro et al. Orphanet J Rare Dis. .

Abstract

Background: Achondroplasia is one of the most prevalent forms of skeletal dysplasia. Lifelong follow-up by an experienced multidisciplinary team is required, particularly during the first 2 years. In 2021, international consensus recommendations and guiding principles were published by two groups.

Methods: We undertook two exploratory surveys to investigate awareness of the recommendations for management of children with achondroplasia among healthcare professionals (HCPs) and parents. We also assessed how well clinical practice aligns with the recommendations.

Results: Awareness of guidance was high among HCP respondents but low among parent respondents. Clinical practice largely aligned with international guidance; however, there was not complete alignment with all recommendations with several rating "somewhat" or "not at all aligned". For infants, these included referral to skeletal dysplasia centre or an HCP with expertise in achondroplasia after diagnosis, provision to parents of early information on positioning and handling, mandatory evaluation for cervicomedullary compression at each medical evaluation, sleep study within the first year of life, and adherence to national immunisation programmes. For children aged 2-5 years, these included annual audiology assessment, encouraging parents to keep children active and learn early healthier nutritional habits, consultation with a paediatric orthopaedic spine specialist if a kyphosis has not resolved within a year, consultation with a paediatric orthopaedic surgeon in the case of progressive genu varum, discussion of limb lengthening procedures, and regular dental assessments.

Conclusions: Further research is needed to understand the reasons for deviation from recommendations. Efforts to increase alignment with recommendations could include disseminating to the wider group of specialties that care for people with achondroplasia and seeking alternative approaches to current organisation of care, such as hub-and-spoke models. Raising awareness of the guidance among parents could be achieved by adapting materials for a non-HCP audience, translation and sharing through patient advocacy groups.

Keywords: Achondroplasia; European Achondroplasia Forum; Guiding principles; Infants; Management; Recommendations; Young children.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: Not applicable. Consent for publication: Not applicable. Competing interests: IA, TBO, SB, VCD, BF, SF, PK, and GM have no conflict of interest to declare. EGN has received payment or honoraria for lectures/presentations, support for attending meetings and/or travel, and has participated in on a Data Safety Monitoring Board or Advisory Board for BioMarin. MAS has received payment or honoraria for lectures/presentations, support for attending meetings and/or travel from BioMarin and Sanofi, not related to this work. MI has received payment or honoraria for lectures/presentations from BioMarin. CL has received payment or honoraria for lectures/presentations. EL has received grants or contracts from EC and DFG. He has also received consulting fees, payment or honoraria for lectures/presentations, support for attending meetings and/or travel and has participated in a Data Safety Monitoring Board or Advisory Board for BioMarin. MM has received grants or contracts paid to his institution from from Merck Serono, Pfizer, and Novo Nordisk. He has received consulting fees from Novo Nordisk, Pfizer, and BioMarin, as well as payment or honoraria for lectures/presentations from Novo Nordisk, Sandoz, Merck Serono, Pfizer, Ascendis, and BioMarin. KM has received grants or contracts, payment or honoraria for lectures/presentations, support for attending meetings and/or travel and has participated in a Data Safety Monitoring Board or Advisory Board for BioMarin. ZP has received consulting fees and payment or honoraria from Newclip Technics France. MS has received grants or contracts and payment for expert testimony from BioMarin paid to Association AISAC ODV. SS has received grants/contracts from Ascendis and Pfizer. He has also received payment or honoraria for lectures/presentations, support for attending meetings and/or travel, and participated in a Data Safety Monitoring Board or Advisory Board for BioMarin.

Figures

Fig. 1
Fig. 1
Respondents by country
Fig. 2
Fig. 2
Healthcare professional respondents by speciality
Fig. 3
Fig. 3
Age of patients managed by HCP responders, and age of children of parent responders
Fig. 4
Fig. 4
Awareness of International Consensus Recommendations and European Achondroplasia Forum (EAF) Guiding Principles for Achondroplasia among, a healthcare professionals and b parents of children with achondroplasia
See this image and copyright information in PMC

References

    1. Ornitz DM, Legeai-Mallet L. Achondroplasia: development, pathogenesis, and therapy. Dev Dyn. 2017;246:291–309. - PMC - PubMed
    1. Hoover-Fong J, Scott CI, Jones MC, Committee on Genetics. Health supervision for people with achondroplasia. Pediatrics. 2020;145:e20201010. - PubMed
    1. Wright MJ, Irving MD. Clinical management of achondroplasia. Arch Dis Child. 2012;97:129–34. - PubMed
    1. Pauli RM. Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis. 2019;14:1. - PMC - PubMed
    1. Boulet S, Althuser M, Nugues F, Schaal JP, Jouk PS. Prenatal diagnosis of achondroplasia: new specific signs. Prenat Diagn. 2009;29:697–702. - PubMed

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