A site for medical students - Practical,Theory,Osce Notes

>

What are the cardinal features of achondroplasia ?

Dwarfism in achondroplasia is due to decrease in the proliferation of cartilage present in growth
plate.This  is an autosomal dominant disease and is usually recognised at birth. The dwarf jokers we see in the circus are usually achondroplasia patients. 
The characteristics features are 
  • Dwarfism.
  • Normal mental and sexual development.
  • Short limbs.
  • Large head with saddle nose.
  • Lumbar lordosis: kyphoscoliosis.