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
Alazami syndrome
Dr Stefano Giuseppe CARAFFI and Dr Livia GARAVELLI
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December 2020
Syndrome de Basel-Vanagaite-Smirin-Yosef
Dr Benedetta CAVIRANI and Dr Livia GARAVELLI
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December 2020
Noonan syndrome with multiple lentigines
Dr Maria Cristina DIGILIO
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November 2020
Carpenter syndrome
Pr Corinne COLLET
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November 2020
Sotos syndrome
Dr Alessandro MUSSA
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November 2020
Freeman-Sheldon syndrome
Dr Valeria CAPRA, Dr Gianluca PICCOLO and Dr Marcello SCALA
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November 2020
Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
Dr Jamal GHOUMID and Dr Thomas SMOL
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November 2020
Simpson-Golabi-Behmel syndrome
Pr Pablo LAPUNZINA and Dr Jair Antonio TENORIO CASTAÑO
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November 2020
L1 syndrome
Pr Connie STUMPEL and Dr Yvonne VOS
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November 2020
Opitz G/BBB syndrome
Pr Alain VERLOES
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)