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Achondroplasia

Disease Information

Overview

Achondroplasia is a genetic bone disorder and the most common type of dwarfism.

  • Affects one in 20,000 babies
  • Arms and legs are short in proportion to body length and head is often large
  • The genetic mutation causes abnormal cartilage formation
  • Prenatal testing available

Achondroplasia at Boston's Children's Hospital

Children with achondroplasia are seen in the genetics program and/or the advanced fetal care program at Boston Children's Hospital.

In-Depth  >>

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