Achondroplasia as a Genetic Basis for Dwarves in Folklore

Dwarves are a prominent part of folklore in many world cultures. They are characterized by short stature, large heads, coarse facial features, and curved spines. This project explores a possible genetic cause for the dwarf throughout our folklore tradition. We propose that a genetic disorder called achondroplasia provides a basis for accounts of dwarves in folk tales. Achondroplasia causes short stature, shortened arms and legs, bowed legs, enlarged head (macrocephaly) and frontal bossing, and spine curvature. It affects <1 in 15,000 newborns annually worldwide, making it a very rare but observable and noteworthy occurrence. Achondroplasia is caused by mutation of the FGFR3 gene, which over-activates a protein that helps regulate cell growth and division, most notably bone growth. This genetic disorder is now known to be the most common cause of dwarfism and is a likely natural cause for the presence of dwarves in our ancient, enduring legends.