Pediatric Achondroplasia (Dwarfism)
Achondroplasia (dwarfism) is a rare genetic disorder causing cartilage to not form normally.
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.
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.
- 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
Tests and Diagnosis
- DNA testing
- Fetal ultrasound