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:
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March 2022
22q11.2 deletion syndrome
Dr Tiffany BUSA and Pr Nicole PHILIP
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December 2021
Kleefstra syndrome
Pr Tjitske KLEEFSTRA
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October 2021
X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
Dr Outi KUISMIN and Dr Leila SOIKKONEN
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October 2021
Polyvalvular heart disease syndrome
Aafke ENGWERDA and Dr Wilhelmina KERSTJENS-FREDERIKSE
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September 2021
Cornelia de Lange Syndrome
Dr Alice GOLDENBERG and Dr Gabriella VERA
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September 2021
Bohring-Opitz syndrome
Dr Perrine Brunelle
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September 2021
Ulnar-mammary syndrome
Dr Stefania Bigoni and Pr Alessandra Ferlini
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August 2021
Oculodentodigital dysplasia
Dr Ausra MATULEVICIENE
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August 2021
Wiedemann-Steiner syndrome
Pr Hans BJORNSSON, Dr Floor DUIJKERS and Dr Wendy JONES
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July 2021
Mosaic trisomy 8
Pr Conny VAN RAVENSWAAIJ-ARTS
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)