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 2021
Lamb-Shaffer syndrome
Dr Cyril MIGNOT
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March 2021
Branchio-oculo-facial syndrome
Dr Patricia DIAS and Dr Mariana NEVES
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March 2021
Williams syndrome
Dr Pernille GREGERSEN, Dr Mette HANDRUP and Dr Anne LEEGAARD
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March 2021
Nicolaides-Baraitser syndrome
Dr Gianluca CONTRO and Dr Livia GARAVELLI
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February 2021
Meckel syndrome
Prof. Tania ATTIE-BITACH
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February 2021
Moebius syndrome
Dr Maria Francesca BEDESCHI and Dr Odoardo PICCIOLINI
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February 2021
MEHMO syndrome
Dr Stéphanie MOORTGAT
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January 2021
Temple-Baraitser syndrome
Dr Catheline VILAIN
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January 2021
Coffin-Lowry syndrome
Dr Stefania BIGONI and Pr Alessandra FERLINI
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January 2021
Myhre syndrome
Dr Livia GARAVELLI and Dr Simonetta ROSATO
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)