Evidence map›Paper›PMID 42778655›Full record

ReviewNature reviews. Endocrinology2026

Diagnosis and management of Silver-Russell syndrome: second international consensus statement.

Emma Wakeling, Justin H Davies, Eloïse Giabicani, Susan M O'Connell, Madeleine D Harbison, Amélie Perriere, Jennifer B Salem, Matthias Begemann, Gerhard Binder, Frédéric Brioude and 29 more

Erratum issuedAbstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

39 authors.

Emma WakelingNorth East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Justin H Davies *Faculty of Medicine, University of Southampton, Southampton, UK.
Eloïse Giabicani *Sorbonne Université, INSERM, Centre de Recherche Saint Antoine, APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France.ORCID http://orcid.org/0000-0001-5360-8616
Susan M O'Connell *Department of Diabetes and Endocrinology, Children's Health Ireland, Dublin, Ireland.
Madeleine D Harbison *Icahn School of Medicine at Mount Sinaï, New York, NY, USA.
Amélie Perriere *Sorbonne Université, INSERM, Centre de Recherche Saint Antoine, APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France.
Jennifer B Salem *The MAGIC Foundation, Warneville, IL, USA.ORCID http://orcid.org/0000-0002-4266-170X
Matthias BegemannCenter for Human Genetics and Genome Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.ORCID http://orcid.org/0000-0002-4659-8437
Gerhard BinderDepartment of Pediatric Endocrinology, University Children's Hospital, Tübingen, Germany.ORCID http://orcid.org/0000-0001-7988-3587
Frédéric BrioudeSorbonne Université, INSERM, Centre de Recherche Saint Antoine, APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France.ORCID http://orcid.org/0000-0001-8122-760X
Dayna Morris-CarneyThe MAGIC Foundation, Warneville, IL, USA.ORCID http://orcid.org/0009-0005-9542-685X
Jovanna DahlgrenQueen Silvia Children's Hospital, Västra Götalandregionen, Gothenburg, Sweden.
Bea DickinsonChild Growth Foundation, Newcastle-upon-Tyne, UK.
Bruno DonadilleSorbonne University, Centre des maladies rares endocriniennes de la croissance et du développement, Endo-ERN, Saint Antoine Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
Beatrice DubernSorbonne University, Pediatric Nutrition and Gastroenterology, APHP, Hôpital Armand Trousseau, Paris, France.ORCID http://orcid.org/0000-0002-0065-5344
Katja EggermannCenter for Human Genetics and Genome Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Gabriella GazdaghFaculty of Medicine, University of Southampton, Southampton, UK.
Karen GrønskovDepartment of Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.ORCID http://orcid.org/0000-0002-2341-1326
Anita C Hokken KoelegaDepartment of Pediatrics, Erasmus University Medical Center, Rotterdam, Netherlands.
Youn Hee JeeDivision of Endocrinology, Children's National Hospital, Washington, DC, USA.
Alicia JuriansFaculty of Medicine, University of Southampton, Southampton, UK.
Masayo KagamiDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Satomi KoyamaDepartment of Paediatrics, Dokkyo Medical University, Saitama, Japan.
Emilie KulakAssociation Silver Russell PAG, Domazan, France.
Asmahane LadjouzeDepartment of Paediatrics A, Centre Hospitalo-Universitaire Béni-Messous, Algiers, Algeria.
Paola LombardiDepartment of Human Genetics, Amsterdam Medical Centers, Amsterdam, Netherlands.
Mohamad MaghnieDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
Louise McClellandEuropean Molecular Genetics Quality Network (EMQN), Salford, UK.ORCID http://orcid.org/0009-0000-5917-8020
Veronica MericqInstitute of Maternal and Child Research, Faculty of Medicine, University of Chile, Santiago, Chile.
Giuseppa PattiDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
Klaudia RaabeBundesverband Kleinwüchsige Menschen und ihre Familien (BKMF), Bremen, Germany.
Andrea RiccioDepartment of Environmental, Biological and Pharmaceutical Sciences and Technologies, University of Campania "Luigi Vanvitelli", Caserta, Italy.ORCID http://orcid.org/0000-0001-7990-3576
Silvia RussoInstituto Auxologico Italiano, IRCCS, Cytogenetic and Molecular Genetic Laboratory, Milan, Italy.ORCID http://orcid.org/0000-0002-5893-0193
Helen L StorrCentre for Endocrinology, William Harvey Research Institute, Queen Mary University London, London, UK.ORCID http://orcid.org/0000-0002-9963-1931
I Karen TempleFaculty of Medicine, University of Southampton, Southampton, UK.
Zeynep TümerDepartment of Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.ORCID http://orcid.org/0000-0002-4777-5802
Thomas EggermannCenter for Human Genetics and Genome Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany. teggermann@ukaachen.de.ORCID http://orcid.org/0000-0002-8419-0264
Deborah J G MackayFaculty of Medicine, University of Southampton, Southampton, UK.ORCID http://orcid.org/0000-0003-3088-4401
Irene NetchineSorbonne Université, INSERM, Centre de Recherche Saint Antoine, APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France. irene.netchine@aphp.fr.ORCID http://orcid.org/0000-0003-1324-3389

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This international Consensus Statement updates 2016 guidelines for diagnosis and management of individuals with Silver-Russell syndrome (SRS), using a Delphi-like process to reach agreement through iterative expert discussions, based on published data and/or expert opinion. Individuals referred with suspected SRS show substantial clinical and genetic heterogeneity. Advances in genomic and epigenomic technology highlight the need for strict, primarily molecular, criteria for diagnosis, which should be made in those with maternal uniparental disomy for chromosome 7 (upd(7)mat) or 11p15 loss of methylation at H19/IGF2:intergenic differentially methylated region (IG-DMR) (due to an imprinting change, copy number variant or upd(11)mat). Molecular stratification enables tailoring of care pathways towards specific genetic and/or epigenetic subgroups. More widely, recommendations are relevant to other growth-related imprinting disorders (including Temple syndrome) and conditions affecting the insulin-like growth factor 2 pathway. An expert, multidisciplinary approach is required, focusing on growth failure, early severe feeding difficulties, later possible rapid weight gain, abnormal body composition, gastrointestinal problems, hypoglycaemia, insulin resistance, accelerated puberty, body asymmetry, neurocognitive issues and psychosocial challenges. Evidence published since the first Consensus Statement highlights the increased risk of metabolic disease from adolescence into adulthood. These updated recommendations have important implications for accurate diagnosis and optimal life-long management of individuals with SRS.

Identifiers

PMID42778655

What OpenQuestion holds

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