Pediatric achondroplasia (dwarfism)

What is pediatric achondroplasia (dwarfism)?

Achondroplasia is an autosomal dominate disease which means that only one abnormal gene inherited from a single parent can lead to this condition. Boys reach an average height of about 4 feet, 4 inches. Girls reach an average height of about 4 feet, 1 inch.

Risk factors

Most babies born with achondroplasia have no family history of it. However, having a parent with achondroplasia increases the risk of being born with this condition.

What are the signs and symptoms of pediatric achondroplasia (dwarfism)?

• Bowed lower legs
• Curved lower spine (lordosis or swayback)
• Flat feet
• Large head/forehead
• Poor muscle tone and loose joints
• Short arms, legs and fingers with normal-sized torso

How is pediatric achondroplasia (dwarfism) diagnosed?

• DNA testing
• Fetal ultrasound