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Achondroplasia

Etymology:

Gr. a-: "without" + Gr. khóndros: “grain, cartilage” + L. plasia: "growth"

Definition:

A genetic disorder involving the mutation of fibroblast growth factor receptor 3 (FGFR3) gene, which leads to the most common form of short-limb dwarfism: a condition involving the failure of long bones to grow due to a defect at the epiphysis (the end of the bone where cartilage resides). 


More specifically, the process of endochondral ossification is affected by the constitutive activation of FGFR3, which inhibits the proliferation of chondrocytes. Chondrocytes are the main starting players in endochondral ossification because they first lay down hyaline cartilage, which is then replaced with woven bone and, later, lamellar bone. The etymology then becomes intuitive here: achondroplasia is without the growth of cartilage, which inhibits the beginning stages of long bone growth.



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