Achondroplasia

Part of speech: noun

Pronunciation: /eɪˌkɒndɹə(ʊ)ˈpleɪziə/

Definitions

1. A genetic condition resulting in short stature and disproportionate body proportions due to a specific mutation affecting bone development
2. This disorder leads to skeletal abnormalities and a characteristic short form of dwarfism caused by a mutation in the FGFR3 gene
3. A hereditary condition characterized by an abnormality in bone growth that results in disproportionate short stature and distinctive physical features

Etymology: Achondroplasia is a modern medical coinage, built from Greek pieces that never went together in antiquity. Its first part, "a-", is the Greek negative prefix meaning "not", and its middle, "chondro-", comes from "khóndros", the Greek word for cartilage or a grain-like lump. The last part, "-plasia", comes from "plássein", meaning "to form or mould", through the Greek noun "plásis", giving the sense of growth or formation. Put together, the name describes a condition in which cartilage does not form normally, which is why the bones of the limbs develop short. The "-plasia" ending was borrowed into English through New Latin, the scholarly Latin used by European naturalists and physicians, and it appears in many other medical terms built on the same pattern. Ancient Greeks had the building blocks but no concept or word for this specific disorder, so the name is a product of the modern era, not classical scholarship.