In this study we want to learn more about achondroplasia and the genetic factors and health outcomes linked to it. To do this, we are collecting DNA (from saliva samples) from people who have achondroplasia and their family members.
Achondroplasia is a condition that affects how bones grow. It causes people to be shorter and can change the shape of their spine and legs. If you/your child join this study, you will come to one visit at Children's Hospital Colorado. We will do a physical exam, and we will ask you to fill out a survey about your health. We will ask you to give a sample of your spit. We may ask you to come back for a second visit to answer more questions or give more samples, but you do not have to do this.
You/your child can join this study if you have been diagnosed with achondroplasia. You may also join if you have a family member that has achondroplasia. People of any age and gender can join our study.
Protocol Number: 24-0387
Principal Investigator