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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January 2021
Campomelic dysplasia
Dr Maria Francesca BEDESCHI
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December 2020
Blepharo-cheilo-odontic syndrome
Dr Jamal GHOUMID and Pr Florence PETIT
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December 2020
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
Dr Stefano Giuseppe CARAFFI and Dr Livia GARAVELLI
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December 2020
Treacher-Collins syndrome
Pr Corinne COLLET
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December 2020
SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
Dr Livia GARAVELLI and Dr Gabriele TRIMARCHI
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December 2020
Fanconi anemia
Dr Thierry LEBLANC
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December 2020
Malan overgrowth syndrome
Pr Valérie CORMIER-DAIRE and Dr Valérie MALAN
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December 2020
Isolated childhood apraxia of speech
Dr Melissa RIEGER and Pr Christiane ZWEIER
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December 2020
Distal arthrogryposis type 1
Dr Livia GARAVELLI and Dr Marzia POLLAZZON
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December 2020
Postaxial acrofacial dysostosis
Pr Dagmar WIECZOREK
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)