Orphanet Updates
Each HCP is invited to collaborate with ORPHANET to create or update entries of this European catalogue. As a follow-up on our collaboration with Orphanet, you will find below new orphanet by ITHACA experts on the syndromes listed below:
-
February 2025
Perlman syndrome
Pr André REIS | ITHACA* - Pr Martin SCHUHMANN | ITHACA* - Dr Georgia VASILEIOU | ITHACA*
-
January 2025
Nance-Horan syndrome
Dr Constantia ARISTIDOU - Pr Georges TANTELES
-
January 2025
McKusick-Kaufman syndrome
Pr André REIS | ITHACA* - Dr Georgia VASILEIOU | ITHACA* - Dr Mona WALTHER | ITHACA*
-
January 2025
Micro syndrome
Pr Marije MEUWISSEN | ITHACA* - Dr Jessica ROSENBLUM | ITHACA*
-
March 2022
22q11.2 deletion syndrome
Dr Tiffany BUSA and Pr Nicole PHILIP
-
December 2021
Kleefstra syndrome
Pr Tjitske KLEEFSTRA
-
October 2021
Polyvalvular heart disease syndrome
Aafke ENGWERDA and Dr Wilhelmina KERSTJENS-FREDERIKSE
-
October 2021
X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
Dr Outi KUISMIN and Dr Leila SOIKKONEN
-
September 2021
Cornelia de Lange Syndrome
Dr Alice GOLDENBERG and Dr Gabriella VERA
-
September 2021
Bohring-Opitz syndrome
Dr Perrine Brunelle
Additional orphanet by ITHACA Experts:
- Rubinstein-Taybi syndrome: Dr L.A. [Leonie] MENKE (ERN ITHACA)
- Inverted duplicated chromosome 15 syndrome: Dr Agatino BATTAGLIA (ERN ITHACA)
- Galloway-Mowat syndrome: Dr Laurence HEIDET (ERKNet) – Dr Max LIEBAU (ERKNet) Pr Alain VERLOES (ERN ITHACA)
- Hennekam syndrome: Pr R.C. [Raoul] HENNEKAM (ERN ITHACA)
- Pitt-Hopkins syndrome: Pr R.C. [Raoul] HENNEKAM (ERN ITHACA)
- Feingold syndrome type 1: Pr Loïc DE PONTUAL (ERN ITHACA)
- Feingold syndrome type 2: Pr Loïc DE PONTUAL (ERN ITHACA)