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

Achilles Tendon Rupture

An Achilles tendon rupture is a complete or partial tear of the Achilles tendon, which connects the calf muscles (gastrocnemius and soleus) to the heel bone (calcaneus). It is one of the most common tendon ruptures in the lower limb. Rupture typically presents suddenly during physical activity, causing pain, functional impairment, and often the feeling of being “kicked” in the back of the leg. Because … Continue reading Achilles Tendon Rupture