Impact of achondroplasia
Clinical manifestations
The traditional characterization of achondroplasia is short stature. However, inhibited bone growth also leads to other classical physical features that present throughout the body.1
Clinical manifestations of achondroplasia include:
Macrocephaly (a large head size)1
Foramen magnum stenosis (narrowing of foramen magnum)2
Disproportionately short limbs with a near-normal length torso3
Short stature2
Genu varum (bowed legs)2
Frontal bossing (an unusually prominent forehead)2
Midface retrusion (the underdevelopment of the middle of the face)1
Exercise intolerance4
Reduced muscle strength4
Hypotonia (decreased muscle tone with weakness)1
Clinical manifestations of achondroplasia are associated with significant, potentially life-threatening complications over the lifetime of an individual.5
A lifetime of complications
Achondroplasia presents a burden of complications that manifest early and continue across the individual’s entire lifespan. These complications can be severe and debilitating.5,6
Infancy
(0-1 year)4,7Childhood
(1-13 years)4,7Adolescence
(13-18 years)4,7Adult
(>18 years)4,7Infancy
(0-1 year)4,7Childhood
(1-13 years)4,7Adolescence
(13-18 years)4,7Adult
(>18 years)4,7Given this significant burden, timely and impactful treatment is imperative to mitigate the progression of achondroplasia and improve quality of life.8
Patient Burden
Beyond physical manifestations, the medical complications associated with achondroplasia can severely compromise an individual’s quality of life, physical functioning, and psychosocial outcomes.8,9
Explore the complex treatment needs and considerations in achondroplasia.
Explore management
References:
1. Pauli RM. Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis. 2019;14(1):1-49.
2. McDonald EJ, De Jesus O. Achondroplasia. In: StatPearls. Treasure Island (FL): StatPearls Publishing; August 23, 2023. Accessed July 2025. https://www.ncbi.nlm.nih.gov/books/NBK559263
3. Stender M, Pimenta JM, Cheung M, et al. Comprehensive literature review on the prevalence of comorbid conditions in patients with achondroplasia. Bone. 2022;162:116472.
4. Ireland PJ, Pacey V, Zankl A, et al. Optimal management of complications associated with achondroplasia. Appl Clin Genet. 2014;7:117-125.
5. McGraw SA, Henne JC, Nutter J, et al. Treatment goals for achondroplasia: a qualitative study with parents and adults. Adv Ther. 2022;39(7):3378-3391.
6. Murton MC, Drane ELA, Goff-Leggett DM, et al. Burden and treatment of achondroplasia: a systematic literature review. Adv Ther. 2023;40(9):3639-3680.
7. Hoover-Fong J, Cheung MS, Fano V, et al. Lifetime impact of achondroplasia: current evidence and perspectives on the natural history. Bone. 2021;146:115872.
8. Savarirayan R, Ireland P, Irving M, et al. International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. Nat Rev Endocrinol. 2022;18:173-189.
9. Constantinides C, Landis SH, Jarrett J, et al. Quality of life, physical functioning, and psychosocial function among patients with achondroplasia: a targeted literature review. Disabil Rehabil. 2022;44(21):6166-6178.
10. Pfeiffer KM, Brod M, Smith A, et al. Assessing physical symptoms, daily functioning, and well-being in children with achondroplasia. Am J Med Genet A. 2021;185A(1):33-45.
11. Alves I, Koromani F, Lemos C, et al. Facilitators and constraints of physical activity in adults with achondroplasia: a scoping review. J Rare Dis. 2024;3:22.