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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November 2020
Holoprosencephaly
Dr Christèle DUBOURG, Dr Alinoë LAVILLAUREIX and Pr Sylvie ODENT
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October 2020
Short stature-brachydactyly-obesity-global developmental delay syndrome
Dr Irene VALENZUELA
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October 2020
Cerebellar-facial-dental syndrome
Dr Irene VALENZUELA
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October 2020
Tall stature-intellectual disability-renal anomalies syndrome
Pr. Laurence FAIVRE
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October 2020
Mowat-Wilson syndrome
Dr Livia GRAVELLI
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October 2020
Hypertelorism, Teebi Type
Pr. Alain VERLOES
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September 2020
Nasopalpebral lipoma-coloboma syndrome
Pr Laurence FAIVRE
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September 2020
KBG syndrome
Pr Nicole PHILIP and Dr. Florence RICCARDI
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September 2020
Kabuki syndrome
Dr. David Geneviève
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September 2020
22q11.2 duplication syndrome
Dr. Tiffany BUSA and Prof. Nicole PHILIP
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)