Hello, my name is Katy Phelan and I would like to welcome you to the PMSF UK website. Through the website you will be able to connect with other families and obtain a great deal of information about Phelan-McDermid Syndrome. I also invite you to join the PMSF International Registry. The Registry is designed to gather information about individuals with PMS and store the information in one site.
Participation in the registry is essential for us to characterize PMS and learn its natural history – how the features evolve over time – so we can share this information with families, care-givers, and the medical community. The data will also be used in a variety of research studies designed to gain a wealth of information – from the action of contributing genes to identifying potential therapies. Naturally, all of the data in the Registry is completely confidential.
Your child’s name is replaced by a code so there are no concerns about connecting the information in the Registry to a particular child or family. I hope you see the importance of participating in the Registry for the future of your child and the PMS community!
Thank you and welcome!!
Dr Katy Phelan
Founder, Phelan-McDermid Syndrome Foundation
To join the Phelan-Mcdermid Syndrome International Registry, click the image below.
Click for information on Patient Registry