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.