Etymed
achondroplasia
Definition
A genetic disorder characterized by abnormal cartilage development leading to disproportionate short stature
Clinical context
A 2-year-old child presents with characteristic features including short limbs, large head with prominent forehead, and normal trunk length. The child's parents are of average height, and radiographic examination reveals typical findings of shortened tubular bones with normal epiphyseal development. This condition is caused by a mutation in the FGFR3 gene affecting bone growth.
Mnemonic
ACHONDROPLASIA - 'Achondro' (no cartilage) + 'plasia' (growth) = disproportionate short stature with normal trunk