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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July 2025
Miller-Dieker syndrome syndrome
Dr Marjan DE RADEMAEKER - Pr Marije MEUWISSEN - Dr Jessica ROSENBLUM
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July 2025
RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome
Dr Marta CODINA-SOLÀ - Pr Christel DEPIENNE - Dr Caroline NAVA - Dr Ernest TURRO - Dr Irene VALENZUELA PALAFOLL | ITHACA* - Dr Nicola WHIFFIN
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July 2025
Seckel syndrome
Dr Valentina CETICA | ITHACA* - Pr Angela PERON | ITHACA*
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July 2025
Ablepharon macrostomia syndrome
Pr Martin ZENKER | ITHACA*
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May 2025
Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome
Pr David GENEVIEVE | ITHACA* - Dr Quentin SABBAGH | ITHACA*
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March 2025
SATB2-associated syndrome
Dr Viola ALESI - Dr Andrea BARTULI | ITHACA* - Dr Davide VECCHIO | ITHACA*
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March 2025
Pallister-Killian syndrome
Dr Livia GARAVELLI | ITHACA* - Dr Lucrezia GIANNINI
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March 2025
Roberts syndrome
Dr Clémence VANLERBERGHE | ITHACA*
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March 2025
Monosomy 18p
Dr Nuria BRAMSWIG | ITHACA* - Dr Valerie KRAUTH | ITHACA*
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March 2025
Schaaf-Yang syndrome
Pr Frank KAISER | ITHACA*
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)