Achondroplasia (achon·dro·pla·sia) or dwarfism is a rare genetic disorder causing cartilage to not form normally.
Overview
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.
Signs and Symptoms
What are the signs and symptoms of pediatric achondroplasia (dwarfism)?
Bowed lower legs
Flat feet
Large head/forehead
Poor muscle tone and loose joints
Short arms, legs and fingers with normal-sized torso
Diagnosis
How is pediatric achondroplasia (dwarfism) diagnosed?
DNA testing
Fetal ultrasound
