This study wants to collect health and growth information about children with hypochondroplasia. This information will help us understand their basic health and see if they can join future studies about hypochondroplasia.
In this study, we want to learn more about the overall health and growth of children with hypochondroplasia. Hypochondroplasia is a genetic problem that affects bone growth, making children shorter and sometimes causing other bone and joint issues. If your child joins this study, they will have up to 6 visits over 2 years. The first visit is to see if your child can join the study. At this visit, we will check their health history, do a body and eye exam, and measure their body and limbs. We will take a small amount of blood from your child's arm using a needle. We will also ask your child to give a urine sample. We will ask you and your child to fill out a few surveys about their behavior and life. Lastly, we will use an ultrasound machine to take pictures of your child's heart. If your child joins the study, you will come back for visits 3 and 6 months after the first visit, and then every 6 months for three more visits. At each visit, your child will do the same things they did at the first visit, except we will not use the ultrasound machine to take any more pictures of their heart.
Your child is able to join this study if they are between 2.5 and 17 years old and have been diagnosed with hypochondroplasia by a doctor and a special blood test. Your child should also be able to walk and stand without help.
Principal Investigator