# An overview of the International Consensus Statement on achondroplasia

**Authors:** Inês Alves, Svein Otto Fredwall, Michael Hughes, Penelope J. Ireland, Morrys C. Kaisermann, Ravi Savarirayan

PMC · DOI: 10.1186/s13023-025-04189-y · Orphanet Journal of Rare Diseases · 2026-01-20

## TL;DR

This paper summarizes the 2022 International Consensus Statement on managing achondroplasia, a genetic condition causing short stature, to guide patients and healthcare providers.

## Contribution

It provides a patient- and physician-focused commentary on the consensus recommendations for achondroplasia care.

## Key findings

- Achondroplasia is associated with medical, functional, and psychosocial challenges requiring individualized care.
- The consensus statement offers evidence-based recommendations to optimize health and inclusion for individuals with achondroplasia.
- Commentary addresses medical, healthcare system, and psychosocial considerations from patient and physician perspectives.

## Abstract

Achondroplasia is the most common form of short-limbed short stature of genetic origin. Most people with achondroplasia live fully independent, productive, and socially engaged lives. However, the condition is associated with several potential medical complications. Individuals with achondroplasia may experience medical, functional, and psychosocial challenges at different times in their life. The goal for lifelong care of individuals with achondroplasia is to optimize their physical and mental health through provision of individualized care and to promote participation and inclusion in society. In this article, as a tool for individuals with achondroplasia, their families, and their healthcare team, we provide a guided overview of the 2022 International Consensus Statement for management and care of individuals with achondroplasia. The International Consensus Statement recommendations are based on current, best available knowledge. We provide commentary on the recommendations from the perspective of both patients and physicians through addressing medical/developmental considerations, the healthcare system, and psychosocial considerations.

The online version contains supplementary material available at 10.1186/s13023-025-04189-y.

## Linked entities

- **Diseases:** achondroplasia (MONDO:0007037)

## Full-text entities

- **Genes:** FGFR3 (fibroblast growth factor receptor 3) [NCBI Gene 2261] {aka ACH, CD333, CEK2, HSFGFR3EX, JTK4}
- **Diseases:** bone (MESH:D001847), Achondroplasia (MESH:D000130), spinal cord (MESH:D013118), numbness (MESH:D006987), bowed legs (MESH:D056305), Speech delay (MESH:D007805), involuntary muscle spasmsCervicomedullary (MESH:D019042), weight loss (MESH:D015431), Conductive hearing loss (MESH:D006314), misalignment of the teeth (MESH:D018677), sleep disorders (MESH:D012893), cervicomedullary compression (MESH:D009408), curvature (MESH:D013121), Dental malocclusion (MESH:D008310), snoring (MESH:D012913), Pain (MESH:D010146), joint laxity (MESH:D007593), ear infections (MESH:D010031), Urinary incontinence  Bowel incontinenceSymptomatic (MESH:D005242), Frontal bossing (MESH:D020233), weight gain (MESH:D015430), tingling (MESH:D010292), depressed nasal bridge (MESH:D054084), spinal stenosis (MESH:D013130), back pain (MESH:D001416), short-limbed short stature (MESH:C537327), midface hypoplasia (MESH:C564570), obesity (MESH:D009765), flexible/mobile joints (MESH:D014086), Difficulty swallowing and reduced appetite (MESH:D001068), stoppage of breathing (MESH:D004417), kyphosis (MESH:D007738), apnea (MESH:D001049), lumbar spinal stenosis (MESH:C563613), Foramen magnum stenosis (MESH:D003251), obstructive sleep apnea (MESH:D020181), deformities (MESH:D009140), bladder and bowel problems (MESH:D001745), Tibial bowing (MESH:D020429), spine deformity (MESH:D016135), Involuntary muscle spasms (MESH:D013035), Fatigue (MESH:D005221), Sleep apnea (MESH:D012891), chronic pain (MESH:D059350), spinal compression (MESH:D013117), hearing issues (MESH:D034381), hydrocephalus (MESH:D006849), lumbar lordosis (MESH:D008141), skeletal dysplasia (MESH:C535858), genetic disease (MESH:D030342), middle ear effusions (MESH:D010034), middle ear infections (MESH:D010033)
- **Chemicals:** BioMarin (-)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## References

21 references — full list in the complete paper: https://tomesphere.com/paper/PMC12857165/full.md

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Source: https://tomesphere.com/paper/PMC12857165