Achondroplasia Flashcards
1
Q
What is achondroplasia?
A
Achondroplasia is failure of longitudinal bone growth (endochondral ossification) resulting in short limbs.
Membranous ossification is not affected; therefore, these patients have a large head relative to their limbs
2
Q
What is the cause of achondroplasia?
A
Achondroplasia is caused by constitutive activation of fibroblast growth factor receptor (FGFR3) which actually inhibits chondrocyte proliferation.
3
Q
How is the mutation inherited?
A
More than 85% of the mutations in the FGFR3 occur sporadically.
Inheritance is autosomal dominant with full penetrance.
Homozygosity is lethal.
4
Q
What is the most common cause of dwarfism?
A
Achondroplasia
