Day: May 2, 2024

Achondroplasia This is the most common cause of dwarfism, which occurs due to a gene mutation in the receptor that converts cartilage to bone during development. It is due to an activating mutation (usually sporadic) in FGF3 (autosomal dominant). This gene is found in chondrocytes and inhibits growth favouring differentiation. Whilst endochondral ossification is affected, there is normal intramembranous bone formation meaning that patients have a normal skull and torso but short limbs. It leads to dwarfism with short limbs but a normal head and chest size.   Symptoms Short limbs with normal head and chest   Management Growth hormone