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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June 2021
Acrocallosal syndrome
Prof. Tania ATTIE-BITACH
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June 2021
Wiedemann-Rautenstrauch syndrome
Prof. Raoul HENNEKAM
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April 2021
Zimmermann-Laband syndrome
Dr Catheline VILAIN
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April 2021
8p inverted duplication/deletion syndrome
Dr Andrea BARTULI, Dr Marina MACCHIAIOLO and Dr Davide VECCHIO
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April 2021
3MC syndrome
Pr Caroline ROORYCK-THAMBO
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April 2021
Antley-Bixler syndrome
Dr Genevieve BAUJAT
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April 2021
DYRK1A-related intellectual disability syndrome
Dr Bregje VAN BON
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April 2021
DONSON-related microcephaly-short stature-limb abnormalities spectrum
Dr Sandrine PASSEMARD
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March 2021
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Dr Patricia DIAS and Dr Mariana NEVES
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March 2021
Microcephalic primordial dwarfism due to RTTN deficiency
Prof. Nadia BAHI-BUISSON
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)