Dwarfism Awareness Month | Post 2

What is exactly happening inside of Otto's body that makes his bones grow they way they do? At conception, the FGFR3 gene, responsible for converting cartilage to bone, mutated and changed the way the bone is formed in in the long bones of Otto's arms and legs and the base of his skull. This gene is constantly telling Otto's body, "make cartilage, make cartilage, make cartilage" and so it does. However, the cartilage is not properly converted to bone. Many people compare this to a plant being constantly watered, growing less rather than more.

With the disproportionate size of his arms and legs and the narrowing of the base of the skull, there can be some medical issues and developmental delays (more on this later), but cognition is not affected at all. In fact, because the base of the skull is more narrow, the top portion of the skull compensates to make more room for the brain, resulting in an enlarged head (a characteristic feature of achondroplasia).

Please note that I am in NO WAY a medical professional, and this is just my simplified understanding of what many different doctors have explained to us. If you are curious to learn more about the science behind dwarfism, specifically achondroplasia, I encourage you to ask me question or check out the resources below.

http://ghr.nlm.nih.gov/condition/achondroplasia
http://www.ncbi.nlm.nih.gov/books/NBK1152/
https://lpamrs.memberclicks.net/assets/documents/The%20achondroplasia%20gene.J.Hall.pdf

day two.