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ORPHAcode and link
Disease NameOMIM linkRelationshipPrevalence classePublication year
Action requested
Current expert (LastName)
HCP candidate 1HCP candidate 2Comments
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888Van der Woude syndrome268300Exact
1-9 / 100 000 in Europe
2014Update abstractABBO; GALINIER;
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280Wolf-Hirschhorn syndrome100800Exact
1-9 / 100 000 in Europe
2012Update abstractBATTAGLIA;
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83Antley-Bixler syndrome207731Exact
<1 / 1 000 000 worldwide
2007Update abstract
No response from current expert, Priority to ITHACA
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51Aicardi-Goutières syndrome114100
Broad to narrow
1-5 / 10 000 in Europe2008Update abstractCREVEAUX; BLANC;
Gemma invite to see if willing as only a few publications
Current expert invited to update
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1146Digitotalar dysmorphism105650Exact
1-5 / 10 000 worldwide
1900New abstractHCP 1HCP 2Option for ITHACA to produce new text
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2745Opitz G/BBB syndrome145410
Broad to narrow
1-9 / 100 000 in Europe
2012Update abstract
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3449Weill-Marchesani syndrome314580Exact
1-9 / 100 000 worldwide
2006Update abstract
OLIVIER-FAIVRE - previous expert but refused
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813Silver-Russell syndrome180860Exact
1-9 / 1 000 000 in Europe
2007Update abstractTOUTAIN;Current expert invited to update
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72Angelman syndrome301500Exact
1-9 / 100 000 in Europe
2011Update abstractVAN BUGGENHOUT;AOUS (Siena, Italy)0
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1444Ring chromosome 20 syndrome613884Exact
<1 / 1 000 000 worldwide
2006Update abstractVERLOES;ITHACA to update
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2671Neu-Laxova syndrome256520Exact
<1 / 1 000 000 worldwide
2006Update abstractVERLOES;
On hold, pending decision from Orphanet disease team
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2228Hypodontia-dysplasia of nails syndrome189500ExactUnknown worldwide2007Update abstractVERLOES;ITHACA to update
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1458CODAS syndrome106995Exact
<1 / 1 000 000 worldwide
2008Update abstractVERLOES;ITHACA to update
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2849Perlman syndrome267000Exact
<1 / 1 000 000 worldwide
2008Update abstractVERLOES;ITHACA to update
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3380Trisomy 18N/A
1-9 / 1 000 000 in Europe
2008Update abstractVERLOES;ITHACA to update
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1229Congenital intrauterine infection-like syndrome209970Exact
<1 / 1 000 000 worldwide
2008Update abstractVERLOES;ITHACA to update
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3378Trisomy 13610003Exact
1-9 / 1 000 000 in Europe
2008Update abstractVERLOES;ITHACA to update
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2704Ochoa syndrome257970ExactUnknown worldwide2008Update abstractVERLOES;ITHACA to update
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96061Mosaic trisomy 8613458ExactUnknown worldwide2009Update abstractVERLOES;ITHACA to update
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1297Branchio-oculo-facial syndrome212540Exact
<1 / 1 000 000 worldwide
2009Update abstractVERLOES;ITHACA to update
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1742Trisomy 5p226850Exact
<1 / 1 000 000 worldwide
2009Update abstractVERLOES;ITHACA to update
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2995Baraitser-Winter cerebrofrontofacial syndrome612726Exact
<1 / 1 000 000 worldwide
2012Update abstractVERLOES;ITHACA to update
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2496Mesomelia-synostoses syndrome156610Exact
<1 / 1 000 000 worldwide
2012Update abstractVERLOES;ITHACA to update
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2512Autosomal recessive primary microcephaly181000ExactUnknown worldwide2013Update abstractVERLOES;ITHACA to update
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821Sotos syndrome185300Exact
1-9 / 1 000 000 in Europe
2008New abstractOption for ITHACA to produce new text
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2707Oculocerebrofacial syndrome, Kaufman type211370Exact
<1 / 1 000 000 worldwide
2016New abstractOption for ITHACA to produce new text
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171680Lissencephaly due to TUBA1A mutation609698Exact
<1 / 1 000 000 worldwide
2016New abstractOption for ITHACA to produce new text
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2108
maladies génétiques/chromosomiques avec déficience intellectuelle et/ou malformations multiples
New abstract
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627Nance-Horan syndrome2007Update abstractToutain
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709Peters plus syndromeNew abstract
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100973FRAXE intellectual disability
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85202Keutel syndrome
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2136Hennekam syndrome
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884Tetrasomy 12p
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1762Trisomy xq28
300260, 300815
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199Cornelia de Lange syndrome122470Exact
1-9 / 100 000 in Europe
2009Update abstractLACOMBE;
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110Bardet-Biedl syndrome120435Exact
1-9 / 1 000 000 in Europe
2008Update abstract
ROORYCK-THAMBO; LACOMBE;
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275543L1 syndrome278000ExactUnknown worldwide2012Update abstractSTUMPEL;
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220386Semilobar holoprosencephaly157170
Narrow to broad
1-9 / 100 000 in Europe
2011Update abstractODENT; MERCIER;
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93925Alobar holoprosencephaly609637
Narrow to broad
1-9 / 100 000 in Europe
2011Update abstractODENT; MERCIER;
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93924Lobar holoprosencephaly157170
Narrow to broad
1-9 / 100 000 in Europe
2011Update abstractODENT; MERCIER;
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93926
Midline interhemispheric variant of holoprosencephaly
258040Exact
1-9 / 100 000 in Europe
2011Update abstractODENT; MERCIER;
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