29-30 September 2022
Bergen, Norway

In 2021 an international consortium on Rubinstein-Taybi Syndrome (RTS) started to write a best practice clinical guideline supported by the ERN-ITHACA.

The group had their first online meeting in January 2021 and the guideline is nearing its completion.

Through an event organised by ER-ITHACA and the local support of Haukeland University, the RTS consortium is going to meet face-to-face in order to discuss the guideline recommendations and to strengthen the collaboration around the syndrome.

The meeting will be restricted to members of the RTS consortium, but if you are a patient representative with special interest in RTS, please feel free to contact us to express your interest on the meeting.


Didier Lacombe, France
13:10Short historical introduction
Raoul Hennekam, Netherlands
13:30Outline of the meeting
Didier Lacombe, France
13:40Ch 1 Introduction
Didier Lacombe, France
13:45Ch2 Clinical diagnostic criteria
Sofia Douzgou, Norway
14:45Ch3 Molecular diagnostic criteria
Julien van Gils, France
16:15Ch4 Neonatal care
Lloyd Tooke, South Africa (online)
16:45Ch5 Endocrinology  
Leonie Menke, Netherlands
17:15Ch6 Gastroenterology
Sixto Garcia-Minaur, Spain
17:45Ch7 Heart and lungs
Donatella Milani, Italy (online)
09:00Ch8 Eyes
Maria Van Genderen, Netherlands (online)
09:30Ch9 ENT
Edward Cooper, USA
10:00Ch10 Dermatology
Cecilie Bredrup, Norway
10:45Ch11 Urogenital system
Leonie Menke, Netherlands
11:15Ch12 Musculoskeletal system
Cathy Stevens, USA
11:45Ch13 Intra-oral
Agnes Bloch-Zupan, France (online)
13:30Ch14 Immunology
Francesco Saettini, Italy (online)
14:00Ch15 Neurology
Hulya Kayserili, Turkey
14:30Ch16 Development
Lidia Larizza, Italy (online)
15:45Ch17 Behaviour
Jane Waite, UK (online)
16:45Ch18 Adult care
Sofia Douzgou, Norway
17:00Ch19 Clinical trials
Didier Lacombe, France
17:15Voting for all recommendations
Including as many online participants as possible
17:45Final remarks and implementation of the guideline
Didier Lacombe and Raoul Hennekam