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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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
Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
Dr Jos DRAAISMA
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March 2021
Microcephalic primordial dwarfism due to RTTN deficiency
Prof. Nadia BAHI-BUISSON
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March 2021
Roifman syndrome
Prof. Patrick EDERY
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March 2021
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Dr Marcia RODRIGUES and Dr Marta SOARES
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March 2021
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Dr Irene VALENZUELA
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)