One goal of the Roya Kabuki Program is to learn more about the early stages of Kabuki Syndrome. The earlier patients are given a KS diagnosis, the sooner they can start receiving treatment and care they need and deserve. Identifying early indicators of Kabuki Syndrome will give medical professionals and parents a better assessment of the condition, and eventually will allow for development of guidelines to follow after a diagnosis is made.
We have created a short questionnaire that looks at medical information from before, during, and soon after pregnancy. We are looking for information from children with Kabuki Syndrome, as well as their siblings without a KS diagnosis for comparison. If you would like to contribute to this research by filling out a survey, please contact the program coordinator for more details by email or phone (857-218-5254).
We are grateful for all of the families that participate in the Roya Kabuki Program research, and hopeful that together we will make a difference in the Kabuki Syndrome Community!