Common Name(s):
Dwarfism
Alternative Names & Classifications:
Achondroplasia (CLINICAL)
Description
Achondroplasia is caused by a mutation in the FGFR3 gene, which normally limits bone growth in a highly regulated manner. The mutation causes the receptor to be overly active, severely stunting the conversion of cartilage into bone during development. It is the most common type of dwarfism, and while it is autosomal dominant, most cases result from spontaneous new mutations.