Learning Objectives

• Describe the stages of endochondral ossification
• Identify the bones formed by endochondral and intramembranous ossification
• Define the general characteristics of achondroplasia
• Discuss the relationship between bone ossification and the characteristic features of achondroplasia

MSS

• what does achondroplasia affect and NOT affect?
• what bones form via intramembranous ossification?
• what bones form via endochondral ossification?
• what part of endochondral ossification does achondroplasia affect (think of stages)?
• what are the anatomical consequences of achondroplasia?

G&H

• what mutation results in achondroplasia?
• what is the functional effect of this mutation?
• what are the consequences of this mutation?
• what are the steps of the FGFR3 signalling pathway?
• what are the clinical features of achondroplasia?
• how is it treated with current therapies?
• what do future therapies aim to do?
• what is the orphan drug program?