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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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
Nijmegen breakage syndrome
Pr Krystyna CHRZANOWSKA
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July 2021
Mosaic trisomy 8
Pr Conny VAN RAVENSWAAIJ-ARTS
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June 2021
Proximal Xq28 duplication syndrome
Dr Mathilde PUJALTE, Pr Damien SANLAVILLE and Dr Caroline SCHLUTH BOLARD.
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June 2021
Okihiro syndrome
Dr Clémence VANLERBERGHE
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June 2021
CNTNAP2-related developmental and epileptic encephalopathy
Dr Katalin HETZELT, Pr André REIS and Pr Christiane ZWEIER
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June 2021
Hajdu-Cheney syndrome
Dr Soren FAERGEMAN, Dr Pernille GREGERSEN and Dr Gen NISHIMURA
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June 2021
NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance
Dr Katalin HETZELT and Pr Christiane ZWEIER
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)