Tuesday, April 08, 2008

Have you ever heard of achondroplasia?

Check out this cute little gal...

At just 1ft 11 in tall, she is dwarfed by her neighbour's baby, but Jyoti Amge is 15 years old.

Achondroplasia is a result of an autosomal dominant mutation in the fibroblast growth factor receptor gene 3 (FGFR3), which causes an abnormality of cartilage formation. FGFR3 normally has a negative regulatory effect on bone growth. In achondroplasia, the mutated form of the receptor is constitutively active and this leads to severely shortened bones.