Achondroplasia

external

• Causes

  • FGFR3 gene mutation

• Effects

  • Dwarfism
  • Large head
  • Prominent forehead
  • Flat nasal bridge
  • Genu varum
  • Hydrocephalus
  • Sleep apnoea
  • Posterior scalloping
  • Frontal bossing

• Parents

  • Autosomal dominant disorder
  • Congenital skeletal dysplasia

• Description

  • "Mutation of fibroblast growth factor receptor 3 (FGFR3) Chromosome 4p Dwarfism charcterised by: -average sized trunk but - shortening of the proximal limbs "