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Achondroplasia

Whilst achondroplasia is rare, it is the most common type of skeletal dysplasia1

Statistics about Achondroplasia

Results in disproportionate short stature due to inhibited conversion of cartilage into bone6

Achondroplasia is a genetic disease, with 80% of cases resulting from new, spontaneous mutations7-9

Achondroplasia is a genetic disease

The primary cause is a gain-of-function mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, which inhibits endochondral bone growth7,8

80% of all cases are the result of new, spontaneous mutations9

Majority are born to average-statured parents who may not inherently realise the potential lifetime implications of their child’s condition7

Can also be inherited in an autosomal dominant inheritance pattern9

80% of all cases are the result of new, spontaneous mutations

Diagnosis

  • Clinical and radiological characteristics of achondroplasia have been well defined and allow for a high degree of certainty in making the diagnosis7
  • A diagnosis can be made at any age10
  • Observation during the neonatal period is the most common pathway
    •  with 80% receiving a diagnosis at birth10
  • Best practice achieves conclusive diagnosis through several key routes11:
    • Clinical observations
    • Radiography
    • Molecular testing

Complications of Achondroplasia

Keep these complications top-of-mind to help give families a holistic picture of what to look out for

Sleep disordered breathing*

Affects >50% of people with achondroplasia

Otitis media

Affects up to 70% of children

Chronic pain

Can result in loss of mobility

Genu varum (tibial bowing)

Can affect walking and running

Dental issues

Misaligned teeth, a narrow palate, open bite, or underbite

Lumbar hyperlordosis

Limits their range of motion

Sympromatic spinal stenosis

Can lead to leg weakness, incontinence, and chronic pain

Elbow stiffness

Limits their range of motion

Obesity

Can lead to high blood pressure or heart disease

*Potential causes include midfacial hypoplasia & foramen magnum stenosis (a skeletal issue that can result in cervicomedullary compression)

References:

  1. Hogler W, Ward LM. Wien Med Wochenschr. 2020;170(5-6):104-111.
  2. Waller DK, et al. Am J Med Genet A. 2008;146A(18):2385-2389.
  3. Foreman PK, et al. Am J Med Genet A. 2020;182(10):2297-2316.
  4. Ireland PJ, et al. Appl Clin Genet. 2014;7:117-125.
  5. Tofts L, et al. Am J Med Genet A. 2021;185(5):1481-1485.
  6. Ornitz DM, Legeai-Mallet L. Dev Dyn. 2017;246(4):291-309.
  7. Pauli RM. Orphanet J Rare Dis. 2019;14(1):1.
  8. Laederich MB, Horton WA. Curr Opin Pediatr. 2010;22(4):516-523.
  9. Hecht JT, et al. Handb Clin Neurol. 2014;119:551-63.
  10. Horton WA, et al. Lancet .2007;370 (9582):162-172
  11. Trotter TL, et al. Pediatrics. 2005;116 3):771-783.