Achondroplasia is a genetic condition affecting a protein in the body called the fibroblast growth factor receptor. In achondroplasia, this protein begins to function abnormally, slowing down the growth of bone in the cartilage of the growth plate. Achondroplasia is caused by a change (mutation) in the fibroblast growth factor receptor 3 (FGFR3) gene. This prevents bone growth and mainly affects the long bones in the arms and legs.This leads to shorter bones, abnormally-shaped bones and shorter stature; adult height in people with achondroplasia is between 42 and 56 inches.
Achondroplasia can be diagnosed before birth by fetal ultrasound or after birth by complete medical history and physical examination. DNA testing is now available before birth to confirm fetal ultrasound findings for parents who are at increased risk of having a child with achondroplasia.
A next generation sequencing (NGS) test appropriate for individuals with clinical signs and symptoms, suspicion of, or family history of Achondroplasia. Sequence variants and/or copy number variants (deletions/duplications) within the FGFR3 gene will be detected with >99% sensitivity.
