Achondroplasia

What is achondroplasia?

Achondroplasia is a genetic bone disorder, affecting one in 20,000 babies. It is the most common type of dwarfism in which the child's arms and legs are short in proportion to body length. The head is often large and the trunk is normal size. The average height of adult males with achondroplasia is 52 inches (or 4 feet, 4 inches) and the average height of adult females with achondroplasia is 49 inches (or 4 feet, 1 inch).

How we care for achondroplasia

Children with achondroplasia can be seen in the Genetics Program or the Advanced Fetal Care Program at Boston Children's Hospital.

Areas of innovation for achondroplasia

Researchers are looking into a family of genes called fibroblast growth factors. The gene that causes achondroplasia is included in this category. The goal is to understand how the faulty gene causes the features seen in achondroplasia in order to lead to improved treatment. These genes have been linked to other types of inherited skeletal disorders.