Achondroplasia

Achondroplasia is a genetic condition affecting bone growth, leading to short stature and characteristic changes in limb, skull, and spine development. It is the most common form of disproportionate dwarfism. Individuals with achondroplasia have normal intelligence, and life expectancy is near normal, though they face specific health and surgical challenges. Genetics and Pathophysiology Achondroplasia arises from a mutation in the FGFR3 gene. The mutation causes … Continue reading Achondroplasia