Achondroplasia

Achondroplasia and Hypochondroplasia which are the most common reasons of hereditary dwarfism , caused by mutations in FGFR3 gene. The disease is characterized by short stature caused by bone growth retardation accompanied by disproportionately oriented upper and lower extremities.

Unlike Hypochondroplasia, Achondroplasia has some clinical facial findings which are, for example, frontal bossing and mid-face hypoplasia line formation.

"The discovery of the structure of DNA transformed not only biology but also our understanding of what it means to be human."

Francis Crick