Achondroplasia

Definition

  • Rhizomelic short limbed dwarfism syndrome secondary to defective endochrondral ossification
  • Achondroplasia is the most common skeletal dysplasia
  • Commonest form of disproportionate dwarfism

Associated Conditions

  • Spinal stenosis
  • Hydrocephalus
  • Overweight

History

  • First coined in 1878 by Parrot to distinguish between achondroplastics & rachitic patients with proportionate dwarfism