Literally meaning: “diminished cartilage formation”
Origin: Anc Greek
υπό-/hypo- (prefix meaning "under", "beneath", "less", “diminished”)
+χόνδρος/chondros (=thick, coarse salt, soft bone, carilages in the region between the ribs and navel)
+πλάσσω/plasso(=to create, to form, to mold)
Dwarfism was known since times of ancient Egypt as Egyptians had two dwarf gods: Bes, the protector of sexuality/childbirth and Ptah the protector of regeneration.
Hypochondroplasia was probably first described by Ravenna (1913) but not generally recognized until much later, the term being coined by Maroteaux and Lamy (1960).
Ravenna F (1913) Achondroplasie et chondrohypoplasie: contribution clinique. N Iconogr Salpetriere 26:157–184.
Maroteaux P, Lamy M (1960) Les chondropdystrophies genotypiques. L’Expansion Scientifique Francaise, Paris, pp 26–27.
Hypochondroplasia (MIM ) is is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar to but milder than achondroplasia. Hypochodroplasia may be inherited as an autosomal dominant trait due to mutations in FGFR3 gene, although most cases occurs as spontaneous mutations in germline.