hypochondroplasia

Term: hypochodroplasia

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)

Coined/History

  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).

Sources

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.

Definition

Hypochondroplasia (MIM 146000) 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.