Understanding Achondroplasia

Achondroplasia is the most common form of short-limbed dwarfism, a genetic condition that leads to disproportionately short stature. It's characterized by short limbs, especially the upper arms and thighs, along with other features like a large head and characteristic facial features. Most cases are not inherited, but rather due to a new genetic mutation.

It’s hard for people of average stature to appreciate how achondroplasia affects the person living with it but it’s definitely not “just being shorter than average”.

Those with achondroplasia may experience thoracolumbar kyphosis (curvature of the upper back) and lumbar hyperlordosis (exaggerated inward curve of the lower back) often leading to pain and mobility issues. They can also have narrowing of the spinal canal, particularly in the lumbar region, which can cause nerve compression, pain, numbness, weakness, and in severe cases, loss of bowel or bladder control. These, and many other potential physical manifestations of the condition can have considerable psychosocial effects and a significantly reduced quality of life.

Awareness of achondroplasia can have significant positive impacts on the lives of those affected by the condition.

References:

1. Ornitz DM, Legeai-Mallet L. Achondroplasia: Development, pathogenesis, and therapy. Dev Dyn. 2017 Apr;246(4):291-309. doi: 10.1002/dvdy.24479.

2. Omara, C., Pieters, L., Castelein, R.M. et al. Early evaluation and treatment of thoracolumbar kyphosis in children with achondroplasia. Eur Spine J 34, 1221–1228 (2025). https://doi.org/10.1007/s00586-025-08692-5

3. McDonald EJ, De Jesus O. Achondroplasia. [Updated 2023 Aug 23]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK559263/