Achondroplasia

Exam Cram

• Most common primary skeletal dysplasia

• Accounts for 90% of short stature, previously known as dwarfism

• Autosomal dominant with 100% penetrance

Med Reg Notes

Background

Mutation on gene FGFR3- fibroblast

Lifespan: 60yrs

Presentation

• Macrocephaly with frontal bossing

• Short arms, legs & fingers (brachydactyly)

• 'Normal' torso length

• Normal intelligence

References

1. McDonald EJ, De Jesus O. Achondroplasia. 2023 Aug 23. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 32644689.