Three-dimensional craniofacial imaging in children with achondroplasia treated with vosoritide.

Hoskens H, Aponte JD, Da Silva C, Coward T, Hallgrímsson B, Irving M

Genetics in medicine open13 Oct 2025

PMID41340868PMCIDPMC12670446DOI10.1016/j.gimo.2025.103463PepBankPUB-41340868

Summary

PurposeAchondroplasia is the most common form of disproportionate short-stature skeletal dysplasia. Constitutively activated FGFR3 signaling disrupts endochondral ossification, affecting long bone growth, as well as the craniofacial skeleton and skull base. This results in the distinctive craniofacial features of achondroplasia, such as midface hypoplasia and nasal bridge depression. Vosoritide is a precision medicine that acts through the C-type natriuretic peptide pathway to counteract overactive FGFR3 signaling, including its inhibitory effects on chondrocyte differentiation and proliferation. The aim of this study was to investigate the potential effects of vosoritide treatment on the craniofacial skeleton in achondroplasia.MethodsWe used longitudinal 3D facial surface imaging in children aged 5 to 10 years receiving vosoritide to test for differences in face shape over the course of treatment. We used nonlinear registration to standardize a dense measurement of all facial meshes. Finally, we defined the achondroplasia phenotype by scoring participant faces based on their shape similarity to the distinctive facial presentation of achondroplasia.ResultsWe measured the change in achondroplasia score for all participants recruited in this study. Using a linear mixed model approach to account for individual differences, we detected a small but significant reduction in the achondroplasia phenotype score over the course of vosoritide treatment.ConclusionOur findings indicate that vosoritide treatment leads to a measurable improvement in facial phenotype in achondroplasia, highlighting its potential utility beyond enhancing linear growth. We discuss the role of pathway-disrupting medications, such as vosoritide, in addressing the broader spectrum of medical issues experienced by children with achondroplasia.

CC BYText from Europe PMC. Highlighted sentences are the source of results.

Results from this study1

1 result from studies that gave the peptide. 1 result from people.

01HumanObservational studyEfficacy outcome
In children with achondroplasia receiving vosoritide, facial phenotype scores decreased slightly but significantly over treatment.
In plain wordsIn children receiving vosoritide, facial features became slightly less similar to the achondroplasia phenotype over treatment.
Peptide
Vosoritide
Outcome
DecreaseAchondroplasia facial phenotype score
Study
n: not reported in source
Comparator
Earlier measurements during treatment
Outcome group
Bone and joint · Musculoskeletal
Studied dose
Dose not stated
Source sentences
Summary
Using a linear mixed model approach to account for individual differences, we detected a small but significant reduction in the achondroplasia phenotype score over the course of vosoritide treatment.
1 context sentence(design, population, supporting numbers)
Summary · context
We used longitudinal 3D facial surface imaging in children aged 5 to 10 years receiving vosoritide to test for differences in face shape over the course of treatment.
Show in the study text Report a problemFND-4134086801

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Version history

PepBank keeps every version of the data on this study. Status changes from Retraction Watch, Europe PMC and Crossref are listed with their source.

Version 2Current
28 Oct 2026, 02:03 UTC
Study results updated
Version 1
27 Oct 2026, 16:37 UTC
First added · source update from Europe PMC

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Terms as the source lists them.

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