Achondroplasia is a genetic (inherited) condition that results in severe short stature and is the most common cause of dwarfism. Hypochondroplasia is a closely related, but less severe condition. Both achondroplasia and hypochondroplasia are caused by abnormalities (mutations) in a gene called FGFR3. Recent research suggests that the growth problem in these conditions may be due in part to the FGFR3 abnormality interfering with a hormone called C-type natriuretic peptide. The purpose of this study is to see if blood levels of C-type natriuretic peptide in patients with achondroplasia or hypochondroplasia are different from people without these conditions.

Name of the Study

“C-Type Natriuretic Peptide and Achondroplasia”

Leading the Study

Dr. Michael Bober, Nemours/Alfred I. duPont Hospital for Children

About the Study

The study is open to all children and adults with achondroplasia or hypochondroplasia. For the study, we will review medical records and measure heights and weights. Adults will have a single blood test done. Children will have an initial blood test done and we will ask permission to do blood tests at each later clinic visit. Blood levels of C-type natriuretic peptide and closely related proteins will be measured and compared to those from a typical statured population.

Contact Us

If you would like more information about this study or eligibility to participate:

For questions about your child’s rights as a research subject, what to do if your child is injured, if you would like to offer input or obtain information, or if you cannot reach the investigator, or want to talk to someone else who is not involved with this research: