The 22q11.2 Society

Promoting research, diagnosis, prognosis, and management of 22q11.2DS & related disorders

Updated Healthcare Recommendations published

The 22q11.2 Society is delighted to share with you that we have successfully published three very important papers:

The Updated Pediatric Healthcare Recommendations
Published February 2nd, 2023

The Updated Adult Healthcare Recommendations
Published February 2nd, 2023

Newly developed Prenatal Screening and Diagnostic Considerations for 22q11.2 Deletion Syndrome
Published January 6th, 2023

We are enormously grateful for all those contributing to this work, in particular lead authors Sólveig Óskarsdóttir, Erik Boot, Donna McDonald-McGinn, Anne Bassett, and Natalie Blagowidow, as well as Lauren Lairson who provided immeasurable administrative support. We are sure these papers will be highly cited and most importantly will make a huge impact on clinical care for patients and families worldwide. Please feel free to share broadly.

Next on our 'To Do' list will be to support the development of subspecialty guidelines, also discussed during the meeting in Split, capitalizing on the REDCap database built by Blaine Crowley and updated by Joanne Loo inclusive of literature reviewed from January 1, 1992 to April 14, 2021, the details of which can be found in the Supplemental Materials for the Adult and Pediatric Guidelines. Many of you signed up to participate in this work in Split but if you did not commit at the time/were not in attendance and would like to participate or would just like to confirm your interest now, please contact Erik Boot or Donna McDonald-McGinn, or send an email to website_editor(at) We are certain these too will be invaluable for patients and providers, and we very much hope to complete many of these papers prior to our next conference in 2024.

We sincerely hope you are as excited about these Society milestones as we are, and we look forward to sharing our collective continued progress moving forward.


The 22q11.2 Society Registered Charity No. 1165896