achondroplasia

Term: achodroplasia

Literally meaning: “without cartilage formation”

Origin: Anc Greek

α-/a (privative, “non”)

+χόνδρος/chondros (=thick, coarse salt,  soft bone, cartilages in the region between the ribs and navel)

+πλάσσω/plasso(=to create, to form, to mold)

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Coined/History

The term was coined in 1878, by French physician Joseph Marie Jules Parrot (1829-1883), who also described the Egyptian god Ptah as suffering from achondroplastic dwarfism. The word of “chondrodystrophy” which was introduced by German physician Edward Kaufmann (1860 - 1931), was used for a long time instead of term “achondroplasia”  in German-speaking countries” .

Definition

Achondroplasia is the a type of short-limbed dwarfism because of reduction in cartilage production and replacement by mucoid regeneration  Achodroplasia may be inherited as an autosomal dominant trait due to mutations in FGFR3 gene, although most cases occurs as spontaneous mutations in normal parents.