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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December 2020
Menkes disease
Pr Zeynep TÜMER and Pr Bert CALLEWAERT
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December 2020
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
Dr Gianluca CONTRO and Dr Livia GARAVELLI
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December 2020
Occipital horn syndrome
Pr Zeynep TÜMER and Pr Bert CALLEWAERT
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December 2020
Witteveen-Kolk syndrome
Dr Meena BALASUBRAMANIAN, Pr Tjitske KLEEFSTRA and Dr Jet VAN DER SPEK
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December 2020
CTCF-related neurodevelopmental disorder
Dr Sarah SCHUHMANN and Pr Christiane ZWEIER
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December 2020
Fraser syndrome
Dr Maria Francesca BEDESCHI, Dr Max LIEBAU and Dr Albertien VAN EERDE
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December 2020
Marshall-Smith syndrome
Pr Valérie CORMIER-DAIRE and Dr Valérie MALAN
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December 2020
Blepharophimosis-intellectual disability syndrome, SBBYS type
Dr Livia GARAVELLI and Dr Gabriele TRIMARCHI
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December 2020
X-linked intellectual disability, Cabezas type
Dr Marcia RODRIGUES and Dr Marta SOARES
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December 2020
Hartsfield syndrome
Dr Catheline VILAIN
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)