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Article History

Received: 24 December 2025

Accepted: 3 February 2026

First Online: 28 February 2026

Declarations

:

: Melita Irving has received honoraria and travel-associated expenses from BridgeBio Pharma Inc., BioMarin Pharmaceutical Inc., Ascendis Pharma, and Tyra. Elena Greco and Alessandra Cocca have participated in an advisory board with BridgeBio. Andrew Dauber has served as a consultant for BioMarin, BridgeBio, Novo Nordisk, Ascendis and Pfizer, and has grant funding from Pfizer and BioMarin. Alexander Augusto de Lima Jorge has received honorarium from BridgeBio, consulting fees from Novo Nordisk, and an independent research grant from BioMarin. Svein Fredwall has participated in advisory boards and given presentations for BioMarin, Sanofi, Ascendis Pharma, BridgeBio and Novo Nordic, honoraria have been paid to his institution, and he is a principal investigator in ongoing clinical trials for Bridgebio and Ascendis Pharma. Amy Patterson has participated in advisory boards with BridgeBio. Keiichi Ozono has received speaker fees from Alexion and Kyowa Kirin. Dominique Kelly, Elena Muslimova, Tejaswini Reddi, and Renée Shediac are employees and shareholders of BridgeBio. Ravi Savarirayan has received consulting fees and grants from BioMarin, has participated on advisory boards with Ascendis and BioMarin, and has received consulting fees from BridgeBio. V. Reid Sutton is a paid consultant to BridgeBio and receives salary support from Baylor Genetics diagnostic laboratory. Julie Hoover-Fong has received grants or contracts from clinical trials from BioMarin, BridgeBio Pharma and Pfizer, has received consulting fees from BioMarin, BridgeBio, Ascendis, Tyra, and Novo Nordisk, has received honoraria from Medscape and BioMarin, and has participated on advisory boards with MCDS-Therapy Clinical Trial (unpaid), BioMarin and BridgeBio. Moira Cheung is an investigator for clinical trials for BioMarin in hypochondroplasia and achondroplasia; has received consulting fees and payment or honoraria for lectures, presentations, and manuscript writing from Bridge Bio, Tyra Scientifica and BioMarin, travel support for attending the Achon Network Meeting, participated on a Drug Medical Committee for Ascendis (unpaid), and holds a leadership or fiduciary role in the Skeletal Dysplasia Group, Skeletal Dysplasia Management Consortium and the Achondroplasia Network Meeting (all unpaid). Juan Llerena Jr and Rui Santos declare no conflicts of interest.

: This article is based on previously conducted studies and expert consensus discussions and does not contain any new studies with human participants or animals performed by any of the authors, therefore formal ethics committee approval was not required. Written consent was obtained to publish the images and clinical information described in illustrative cases.