Silver–Russell Syndrome (SRS): Comprehensive Disease Characteristics Report

Executive summary

Silver–Russell syndrome (SRS; also called Russell–Silver syndrome) is a rare congenital growth disorder and imprinting disorder characterized by prenatal and postnatal growth restriction, relative macrocephaly, prominent forehead, body asymmetry, and feeding difficulties. It is primarily a clinical diagnosis, supported by molecular confirmation in ~60% of cases; the two most common molecular causes are 11p15.5 loss of methylation (LOM) at IC1 / H19–IGF2 and maternal uniparental disomy of chromosome 7 (upd(7)mat). International consensus guidance emphasizes early nutritional optimization and proactive prevention of hypoglycaemia, with recombinant human growth hormone (rhGH) providing benefits beyond linear growth (body composition, appetite, motor development), and monitoring/treating early/rapid puberty when appropriate. (wakeling2017diagnosisandmanagement pages 4-7, wakeling2017diagnosisandmanagement pages 17-20)

Quick reference table (identifiers, molecular causes, NH‑CSS, management)

Table: This table condenses key disease identifiers, molecular causes, NH-CSS diagnostic criteria, and main management pillars for Silver-Russell syndrome. It is useful as a quick reference for building a structured disease knowledge-base entry with source-linked evidence.

1. Disease information

1.1 Definition and overview

SRS is a rare congenital disorder (imprinting disorder) with prenatal and postnatal growth retardation and multisystem involvement. The 2017 international consensus statement summarizes it as “an imprinting disorder that causes prenatal and postnatal growth retardation,” noting substantial overlap with care of children born small for gestational age (SGA), but with SRS-specific management issues (feeding, hypoglycaemia, asymmetry, neurodevelopment, psychosocial) (wakeling2017diagnosisandmanagement pages 4-7).

Authoritative expert opinion (international consensus): - “SRS is primarily a clinical diagnosis; however, molecular testing enables confirmation of the clinical diagnosis and defines the subtype. A ‘normal’ result from a molecular test does not exclude the diagnosis of SRS.” (Wakeling et al., 2017) (wakeling2017diagnosisandmanagement pages 7-10).

1.2 Key identifiers

• OMIM phenotype: 180860 (reported in a retrieved review excerpt). (jang2025silver–russellsyndromefrom pages 1-2)
• MONDO / Orphanet / ICD-10/ICD-11 / MeSH: Not retrievable from the currently gathered full-text evidence in this run; therefore not asserted here.

1.3 Synonyms

• Silver–Russell syndrome (SRS)
• Russell–Silver syndrome
• Historical: Russell–Silver syndrome (RSS) (jang2025silver–russellsyndromefrom pages 1-2, wakeling2017diagnosisandmanagement pages 4-7)

1.4 Evidence sources (individual vs aggregated)

This report integrates: - Aggregated expert consensus (international consensus statement) (wakeling2017diagnosisandmanagement pages 4-7). - Human cohort studies with molecular/clinical data (e.g., Netchine et al. 2007; Temple/14q32 overlap cohort) (geoffron2018chromosome14q32.2imprinted pages 2-3). - Recent human observational research (executive function study in adolescents/adults) (jang2025silver–russellsyndromefrom pages 2-4). - ClinicalTrials.gov registry records for real-world/implementation-oriented studies (NCT06878716 chunk 1, NCT05214742 chunk 1, NCT01842659 chunk 1).

2. Etiology

2.1 Primary causal factors (genetic/epigenetic)

SRS is best understood as a disorder of genomic imprinting affecting growth-regulatory networks. The international consensus estimates identifiable molecular causes in ~60% of clinically diagnosed patients, most commonly: - 11p15 LOM (IC1 / H19–IGF2 IG-DMR hypomethylation): ~30–60% (wakeling2017diagnosisandmanagement pages 4-7). - upd(7)mat: ~5–10% (wakeling2017diagnosisandmanagement pages 4-7).

A large early cohort study explicitly quantified major etiologies in a clinically-defined RSS subgroup within SGA patients: - “Of the 127 SGA patients, 58 were diagnosed with RSS; 37 of these (63.8%) displayed partial LOM of the 11p15 ICR1 domain, and three (5.2%) had mUPD7.” (Netchine et al., 2007) (wesseler2019molecularandclinical pages 11-13).

Other (rare) etiologies include CNVs affecting imprinting regions, and rare SNVs in growth/imprinting genes (e.g., IGF2, CDKN1C, HMGA2, PLAG1), with phenotypic heterogeneity that can reduce sensitivity of purely clinical criteria for these subgroups (kurup2025silverrussellsyndromesecondary pages 1-2).

2.2 Risk factors

Genetic risk factors: SRS is typically sporadic, but recurrence risk may increase in specific scenarios (e.g., heritable CNVs affecting imprinting control regions, or maternal-effect variants affecting imprint maintenance). Evidence for maternal-effect mechanisms and multilocus imprinting disturbance is discussed in WGS-based diagnostic studies and imprinting-disorder mechanistic workups (NCT05945576 chunk 2).

Non-genetic/environmental risk factors: Direct environmental causes are not established for SRS as a Mendelian/imprinting disorder in the retrieved evidence. However, imprinting disorders (including SRS) are under investigation for potential association with assisted reproductive technologies (ART), with ongoing observational studies designed to quantify ART conception prevalence in SRS (NCT06878716 chunk 1).

2.3 Protective factors

No genetic or environmental protective factors were identified in the retrieved evidence.

2.4 Gene–environment interactions

In the retrieved evidence, gene–environment interaction is best framed as epigenetic vulnerability during imprint establishment/maintenance; this is being assessed via real-world observational studies of ART/infertility factors in SRS families (NCT06878716 chunk 1).

3. Phenotypes

3.1 Core phenotype spectrum (with onset and frequency where available)

SRS typically presents prenatally and in early childhood with growth restriction and failure to thrive. Key differentiating clinical features from other SGA/IUGR include relative macrocephaly, prominent forehead, body asymmetry, and feeding difficulties (wakeling2017diagnosisandmanagement pages 4-7).

Feeding/GI: The international consensus notes substantial GI burden, stating “>70% have digestive problems” and “55% severe GERD” in the cited summary evidence (wakeling2017diagnosisandmanagement pages 14-17).

Hypoglycaemia: The consensus statement indicates increased risk in early childhood with an estimated incidence “≈27%” and highlights that episodes are often asymptomatic and nocturnal, motivating home monitoring and structured fasting guidance (wakeling2017diagnosisandmanagement pages 17-20).

Neurocognitive/behavioral: Neurocognitive problems are noted to be more frequent in upd(7)mat than in 11p15 LOM in the consensus overview (wakeling2017diagnosisandmanagement pages 14-17). A 2023 study of adolescents/adults reported largely normal group-level executive function but clinically relevant impairment in some individuals, concluding that SRS individuals “could be at high risk of developing executive dysfunction or attention-deficit/hyperactivity disorder” (Burgevin et al., 2023) (jang2025silver–russellsyndromefrom pages 2-4).

3.2 NH‑CSS phenotyping and diagnostic criteria mapping (HPO suggestions)

The NH‑CSS uses six criteria; a tightly-cropped table listing criteria was retrieved (wakeling2017diagnosisandmanagement media 5493aae2). Criteria and suggested HPO mappings: 1) SGA (birth weight/length ≤ −2 SDS) → Small for gestational age (HP:0001518) (wakeling2017diagnosisandmanagement media 5493aae2) 2) Postnatal growth failure → Postnatal growth retardation (HP:0008897) / Short stature (HP:0004322) (wakeling2017diagnosisandmanagement media 5493aae2) 3) Relative macrocephaly at birth → Relative macrocephaly (HP:0004488) (wakeling2017diagnosisandmanagement media 5493aae2) 4) Prominent forehead → Prominent forehead (HP:0011220) (wakeling2017diagnosisandmanagement media 5493aae2) 5) Body asymmetry → Body asymmetry (HP:0000930) / Hemihypotrophy (HP:0001528) (wakeling2017diagnosisandmanagement media 5493aae2) 6) Feeding difficulties / low BMI → Feeding difficulties (HP:0011968) / Failure to thrive (HP:0001508) / Low body mass index (HP:0001511) (wakeling2017diagnosisandmanagement media 5493aae2)

NH‑CSS performance/thresholds: In prospective evaluation, NH‑CSS sensitivity was ~98% and NPV ~89%, but specificity was low (~36%); the consensus recommends molecular testing if ≥3 criteria and clinical SRS diagnosis at ≥4 criteria including relative macrocephaly and protruding/prominent forehead (wakeling2017diagnosisandmanagement pages 7-10).

3.3 Quality-of-life impacts

The consensus statement explicitly highlights “psychosocial challenges” and the need for multidisciplinary care, including psychology/speech/occupational and family support, implying significant functional and QoL impact (wakeling2017diagnosisandmanagement pages 4-7).

4. Genetic / molecular information

4.1 Causal loci and genes (current understanding)

11p15.5 imprinting region (IC1/H19–IGF2 and related DMRs): Loss of methylation at IC1 is a major cause of “typical Russell-Silver syndrome” (wesseler2019molecularandclinical pages 11-13). Mechanistically, hypomethylation at the paternally methylated H19/IGF2 imprinting control region reduces paternal IGF2 expression, a key driver of fetal growth restriction (wakeling2017diagnosisandmanagement pages 7-10).

Chromosome 7 (upd(7)mat): Common secondary cause (~5–10%) (wakeling2017diagnosisandmanagement pages 4-7).

Other imprinted regions (notably 14q32.2): Disruption of 14q32.2 can present with SRS-like phenotypes; in a 14q32.2 disruption cohort, 72.7% met NH‑CSS ≥4/6, illustrating clinically important overlap and the need for differential molecular diagnosis beyond 11p15/upd7 (geoffron2018chromosome14q32.2imprinted pages 1-2).

Rare monogenic causes (examples): A 2025 synthesis of rare (epi)genotypes reports that variants in IGF2, CDKN1C, HMGA2, PLAG1 can cause SRS-like phenotypes, but NH‑CSS misses a substantial fraction (9–55%) depending on gene, supporting broader genetic testing approaches when suspicion persists despite borderline clinical scoring (kurup2025silverrussellsyndromesecondary pages 1-2).

4.2 Variant types and diagnostic implications

Across SRS and SRS-like presentations, pathogenic mechanisms include: - Epimutations (DNA methylation abnormalities; often mosaic) - UPD - CNVs (duplications/deletions involving imprinting regions) - SNVs in growth/imprinting genes (wakeling2017diagnosisandmanagement pages 7-10, kurup2025silverrussellsyndromesecondary pages 1-2)

Recent (2024) pedigree evidence for CNV/epigenotype complexity: A 2024 familial case described 11p15 duplications with variable methylation patterns and phenotypic outcomes; “duplications of maternal IC2 (copy number of 3) with enhanced methylation (methylation index 0.62) resulted in typical SRS,” demonstrating clinically relevant inheritance and prenatal testing complexity (hong2024prenataldiagnosisof pages 1-2).

4.3 Epigenetic information

SRS is classically an imprinting disorder with methylation alterations at imprinted DMRs (11p15, sometimes multi-locus). Mosaicism and tissue-specific methylation can cause false negatives in blood, motivating multi-tissue strategies and quantitative assays (wakeling2017diagnosisandmanagement pages 7-10).

5. Environmental information

No established infectious, toxin, or lifestyle causal factors were identified in the retrieved evidence. Environmental context is primarily studied via ART and infertility as potential correlates of imprinting disorders, including SRS, with an observational pilot study designed to estimate ART conception prevalence in SRS and collect parental exposure/occupation and fertility data (NCT06878716 chunk 1).

6. Mechanism / pathophysiology

6.1 Causal chain (high-level)

1) Upstream trigger: imprinting disturbance (e.g., 11p15 IC1 hypomethylation) or upd(7)mat (wakeling2017diagnosisandmanagement pages 4-7). 2) Molecular consequence: altered parent-of-origin gene expression, especially growth regulators (e.g., reduced paternal IGF2 expression) (wakeling2017diagnosisandmanagement pages 7-10). 3) Cellular/tissue effects: impaired fetal growth and postnatal growth, low muscle mass, feeding difficulties, increased fasting vulnerability (hypoglycaemia) (wakeling2017diagnosisandmanagement pages 17-20). 4) Clinical manifestations: SGA, postnatal growth failure, relative macrocephaly, prominent forehead, asymmetry, GI problems/GERD, hypoglycaemia, variable neurocognitive outcomes, and early/rapid puberty risk (wakeling2017diagnosisandmanagement pages 4-7, wakeling2017diagnosisandmanagement pages 17-20).

6.2 Pathways and ontology suggestions

Key pathway concept: IGF2 growth axis and imprinting network dysregulation (wakeling2017diagnosisandmanagement pages 7-10).

Suggested GO Biological Process terms (examples): - GO:0001558 regulation of cell growth - GO:0040007 growth - GO:0008283 cell population proliferation - GO:0010817 regulation of hormone levels

Suggested Cell Ontology (CL) terms (broad, given limited direct evidence in retrieved sources): - CL:0000187 cell of the endocrine pancreas (re hypoglycaemia context) - CL:0000540 skeletal muscle cell (low muscle mass, growth)

Suggested Reactome/KEGG framing: IGF signaling; growth hormone/IGF axis (supported conceptually in consensus management and IGF2 mechanism discussion) (wakeling2017diagnosisandmanagement pages 7-10, wakeling2017diagnosisandmanagement pages 17-20).

6.3 Molecular profiling / omics

No transcriptomics/proteomics/metabolomics signatures specific to SRS were present in the retrieved full-text evidence for 2023–2024; model-building iPSC studies are registered to examine “consequences of epimutations at 11p15 or 14q32 on the imprinted gene network” (NCT05214742 chunk 1).

7. Anatomical structures affected

7.1 Organ/system level

SRS is a multisystem condition with prominent effects on: - Whole-body growth and musculoskeletal development (short stature, asymmetry; scoliosis risk) (wakeling2017diagnosisandmanagement pages 4-7) - Gastrointestinal system (feeding difficulties, reflux, dysmotility) (wakeling2017diagnosisandmanagement pages 14-17) - Endocrine/metabolic regulation (hypoglycaemia risk, puberty timing, insulin resistance risk) (wakeling2017diagnosisandmanagement pages 17-20) - Neurodevelopment/psychosocial domains (speech/motor delay, psychosocial challenges; variable executive function risk) (wakeling2017diagnosisandmanagement pages 4-7, jang2025silver–russellsyndromefrom pages 2-4)

7.2 UBERON suggestions (examples)

• UBERON:0002048 thyroid gland / endocrine system context (puberty/metabolic monitoring)
• UBERON:0000948 heart (cardiac issues as differential/rare monogenic presentations) (kurup2025silverrussellsyndromesecondary pages 1-2)
• UBERON:0002107 liver and UBERON:0001264 pancreas (glucose homeostasis context)
• UBERON:0002387 long bone of lower limb (leg-length discrepancy/asymmetry)

8. Temporal development

• Onset: Typically congenital/prenatal (SGA) with postnatal growth failure evident in infancy/early childhood (wakeling2017diagnosisandmanagement pages 4-7).
• Course: Lifelong short stature risk; early feeding and hypoglycaemia issues are emphasized in the first years, with later risks including early/rapid puberty and metabolic complications depending on growth/nutrition trajectory (wakeling2017diagnosisandmanagement pages 14-17, wakeling2017diagnosisandmanagement pages 17-20).

9. Inheritance and population

9.1 Epidemiology

The international consensus reports incidence estimates ranging from ~1:30,000 to 1:100,000, with one molecularly confirmed estimate in Estonia of ~1:70,000 (wakeling2017diagnosisandmanagement pages 4-7).

9.2 Inheritance patterns

SRS is “generally sporadic,” and a strong family history should trigger evaluation for alternative diagnoses or rare inherited molecular mechanisms (e.g., familial CNVs with parent-of-origin effects) (wakeling2017diagnosisandmanagement pages 14-17).

9.3 Population demographics

No sex ratio or ethnicity/geographic variant distribution data were present in the retrieved evidence.

10. Diagnostics

10.1 Clinical criteria (NH‑CSS)

NH‑CSS is the recommended clinical scoring system with 6 criteria (wakeling2017diagnosisandmanagement media 5493aae2). The consensus specifies: - Molecular testing recommended when ≥3/6 criteria are present. - Clinical SRS diagnosis typically reserved for ≥4/6, including relative macrocephaly and prominent forehead (wakeling2017diagnosisandmanagement pages 7-10).

10.2 Molecular testing workflow (current practice)

The consensus emphasizes first-line molecular evaluation for: - 11p15.5 methylation abnormalities (H19/IGF2 IG-DMR) - upd(7)mat - Consideration of CNVs and broader genomic causes when initial testing is negative and clinical suspicion remains (wakeling2017diagnosisandmanagement pages 7-10, wakeling2017diagnosisandmanagement pages 14-17).

Assay considerations: MS-MLPA is widely used; low-level mosaicism and tissue specificity can yield false-negative blood testing, motivating careful assay choice and potentially multi-tissue sampling (blood vs buccal/skin) in some cases (wakeling2017diagnosisandmanagement pages 7-10).

10.3 Genomic sequencing developments

A real-world WGS study (100,000 Genomes Project category “SRS”) reported that WGS can identify SNVs, CNVs, UPD, and maternal-effect variants and may be a “valuable addition” to diagnosis of SRS and related growth restriction disorders (Alhendi et al., 2022) (NCT05945576 chunk 2).

10.4 Prenatal diagnosis

A 2024 report demonstrates prenatal testing using microarray plus MS-MLPA methylation assessment in a familial 11p15 duplication context, highlighting the feasibility and complexity of prenatal diagnosis for imprinting disturbances (hong2024prenataldiagnosisof pages 1-2). Complementarily, a registered prenatal screening study evaluates agreement of methylation index measurements across fetal/cord blood/placental tissues (NCT01842659 chunk 1).

10.5 Differential diagnosis

Consensus guidance notes that consanguinity/family history should prompt alternatives, and highlights overlap with osteogenesis imperfecta, recommending skeletal survey and possible COL1A1/2 testing in suggestive cases (wakeling2017diagnosisandmanagement pages 14-17).

11. Outcome / prognosis

The retrieved evidence emphasizes improved outcomes with early multidisciplinary management and growth-hormone therapy but does not provide disease-specific mortality rates. Untreated adult height was summarized in a retrieved review excerpt as approximately −3.1 SDS (jang2025silver–russellsyndromefrom pages 1-2).

12. Treatment

12.1 Core management principles (real-world implementation)

The 2017 consensus recommends experienced multidisciplinary care (endocrinology-led coordination plus dietetics, gastroenterology, genetics, orthopaedics, speech/psychology) and prioritizes early nutritional optimization and hypoglycaemia prevention (wakeling2017diagnosisandmanagement pages 14-17).

Direct expert statement (consensus): - “The benefits of treating patients with SRS with growth hormone include improved body composition, motor development and appetite, reduced risk of hypoglycaemia and increased height.” (wakeling2017diagnosisandmanagement pages 4-7)

12.2 Nutrition/feeding interventions

• Evaluate and treat reflux/dysmotility/oromotor issues; reserve gastrostomy/enteral feeding as a last resort and avoid promoting excessive weight gain (wakeling2017diagnosisandmanagement pages 14-17).

Suggested MAXO terms: - MAXO:0000064 nutritional support - MAXO:0000147 gastrostomy

12.3 Hypoglycaemia prevention

Consensus recommendations include: - Home urinary ketone monitoring to define safe fasting times. - Night-time supplementation with high–molecular-weight glucose polymer (infants <10 months) or uncooked cornstarch (older infants/children) to prevent nocturnal hypoglycaemia. - Avoid glucagon; provide rapid-access plans for IV dextrose during illness/perioperative fasting (wakeling2017diagnosisandmanagement pages 17-20).

Suggested MAXO terms: - MAXO:0000100 blood glucose monitoring - MAXO:0000789 dietary carbohydrate supplementation

12.4 Growth hormone (GH) therapy

SRS is an indication under the SGA rhGH license, and the consensus summarizes adult-height benefits: - Predicted adult height increases of ~7–11 cm and mean gains of ~+1.2 to +1.4 SDS in summarized studies (doses 35–70 μg/kg/day). Response correlates with earlier start and baseline height SDS (wakeling2017diagnosisandmanagement pages 17-20).

Suggested MAXO term: - MAXO:0000747 growth hormone therapy

12.5 Puberty management

Clinicians should monitor for premature adrenarche and early/rapid central puberty; GnRH analogues may be used to preserve adult height in selected cases (wakeling2017diagnosisandmanagement pages 4-7).

Suggested MAXO term: - MAXO:0000912 gonadotropin-releasing hormone analogue therapy

12.6 Experimental/clinical trials landscape (selected)

• NCT06878716 (2025; NOT_YET_RECRUITING): estimates prevalence of ART conception among SRS children; collects parental fertility and exposure data (telephone questionnaire) (NCT06878716 chunk 1).
• NCT01842659 (2013; diagnostic interventional): evaluates agreement of 11p15 methylation index between amniocytes and cord blood leukocytes for prenatal screening (NCT01842659 chunk 1).
• NCT05214742 (2022; ENROLLING_BY_INVITATION): derives iPSCs from blood to model imprinting disorders (including SRS) to study consequences of 11p15/14q32 epimutations on imprinted gene networks (NCT05214742 chunk 1).
• NCT02859688 (COMPLETED): proof-of-concept germline vs somatic methylation in an SRS proband; reports efficient reversion of constitutive epimutation in spermatozoa, informing reproductive counseling (NCT02859688 chunk 1).

13. Prevention

13.1 Primary prevention

No established primary prevention exists for imprinting disorders like SRS.

13.2 Secondary/tertiary prevention

Consensus recommendations function as secondary/tertiary prevention by preventing complications: - Early nutritional management to avoid malnutrition and reduce hypoglycaemia risk. - Monitoring and proactive management of hypoglycaemia, puberty timing, and metabolic risk (wakeling2017diagnosisandmanagement pages 14-17, wakeling2017diagnosisandmanagement pages 17-20).

13.3 Genetic counseling / reproductive risk

A dedicated observational study (REPAR) provides counseling-relevant evidence that somatic epimutations may revert in germline, affecting recurrence risk assessment (NCT02859688 chunk 1). Familial CNV/epigenotype cases (11p15 duplication with parent-of-origin methylation effects) underscore the importance of parental testing and imprinting-aware interpretation (hong2024prenataldiagnosisof pages 1-2).

14. Other species / natural disease

No naturally occurring veterinary analogs were identified in the retrieved evidence.

15. Model organisms

A mouse model relevant to rare SRS-associated microduplication mechanisms has been reported (CDKN1C dosage model), supporting mechanistic investigation of feeding/behavioral phenotypes; the abstract notes that “rare SRS patients carry maternally inherited microduplications spanning… CDKN1C…” and describes behavioral alterations attributable to elevated Cdkn1c (jang2025silver–russellsyndromefrom pages 6-7). Additionally, a registered clinical study aims to create iPSC-derived models to study imprinting networks in SRS and related imprinting disorders (NCT05214742 chunk 1).

Recent developments (prioritizing 2023–2024)

1) Neuropsychology in adolescents/adults (2023): Executive function testing suggests no uniform executive dysfunction phenotype at group level, but clinically significant impairments in subsets and potential increased ADHD/executive dysfunction risk (jang2025silver–russellsyndromefrom pages 2-4). 2) Prenatal and familial molecular diagnosis (2024): Multi-generation 11p15 duplication with methylation-dependent expressivity illustrates complexity in inheritance and supports combined microarray + methylation testing in prenatal/familial workups (hong2024prenataldiagnosisof pages 1-2). 3) Genetic landscape in persistent short stature after SGA (2023): In a cohort of children born SGA with persistent short stature, SRS constituted a substantial fraction of genetically explained cases, using Netchine–Harbison criteria to define SRS clinically (toni2024thegeneticlandscape pages 9-10).

Limitations of this report relative to template requirements

• PMIDs: The retrieved full-text evidence in this run did not expose PubMed identifiers directly; therefore, PMIDs are not asserted.
• MONDO/Orphanet/ICD/MeSH IDs: Not present in the retrieved sources; therefore not asserted.
• Many requested detailed frequencies (phenotype-by-phenotype) and multi-omics signatures: Not available in the retrieved excerpts; only the consensus-provided and cohort-provided statistics reported above are included.

Key source URLs (with publication dates)

• Wakeling et al. Nat Rev Endocrinol (Feb 2017). https://doi.org/10.1038/nrendo.2016.138 (wakeling2017diagnosisandmanagement pages 4-7)
• Netchine et al. J Clin Endocrinol Metab (Aug 2007). https://doi.org/10.1210/jc.2007-0354 (wesseler2019molecularandclinical pages 11-13)
• Burgevin et al. PLOS ONE (Jan 2023). https://doi.org/10.1371/journal.pone.0279745 (jang2025silver–russellsyndromefrom pages 2-4)
• Hong et al. Front Genet (Dec 2024). https://doi.org/10.3389/fgene.2024.1465521 (hong2024prenataldiagnosisof pages 1-2)
• Geoffron et al. J Clin Endocrinol Metab (Jul 2018). https://doi.org/10.1210/jc.2017-02152 (geoffron2018chromosome14q32.2imprinted pages 2-3)
• ClinicalTrials.gov: NCT06878716 (registered 2025). https://clinicaltrials.gov/study/NCT06878716 (NCT06878716 chunk 1)
• ClinicalTrials.gov: NCT05214742 (registered 2022). https://clinicaltrials.gov/study/NCT05214742 (NCT05214742 chunk 1)
• ClinicalTrials.gov: NCT01842659 (registered 2013). https://clinicaltrials.gov/study/NCT01842659 (NCT01842659 chunk 1)
• ClinicalTrials.gov: NCT02859688 (registered 2016). https://clinicaltrials.gov/study/NCT02859688 (NCT02859688 chunk 1)

References

1. (wakeling2017diagnosisandmanagement pages 4-7): Emma L. Wakeling, Frédéric Brioude, Oluwakemi Lokulo-Sodipe, Susan M. O'Connell, Jennifer Salem, Jet Bliek, Ana P. M. Canton, Krystyna H. Chrzanowska, Justin H. Davies, Renuka P. Dias, Béatrice Dubern, Miriam Elbracht, Eloise Giabicani, Adda Grimberg, Karen Grønskov, Anita C. S. Hokken-Koelega, Alexander A. Jorge, Masayo Kagami, Agnes Linglart, Mohamad Maghnie, Klaus Mohnike, David Monk, Gudrun E. Moore, Philip G. Murray, Tsutomu Ogata, Isabelle Oliver Petit, Silvia Russo, Edith Said, Meropi Toumba, Zeynep Tümer, Gerhard Binder, Thomas Eggermann, Madeleine D. Harbison, I. Karen Temple, Deborah J. G. Mackay, and Irène Netchine. Diagnosis and management of silver–russell syndrome: first international consensus statement. Nature Reviews Endocrinology, 13:105-124, Feb 2017. URL: https://doi.org/10.1038/nrendo.2016.138, doi:10.1038/nrendo.2016.138. This article has 610 citations and is from a domain leading peer-reviewed journal.

2. (wakeling2017diagnosisandmanagement pages 17-20): Emma L. Wakeling, Frédéric Brioude, Oluwakemi Lokulo-Sodipe, Susan M. O'Connell, Jennifer Salem, Jet Bliek, Ana P. M. Canton, Krystyna H. Chrzanowska, Justin H. Davies, Renuka P. Dias, Béatrice Dubern, Miriam Elbracht, Eloise Giabicani, Adda Grimberg, Karen Grønskov, Anita C. S. Hokken-Koelega, Alexander A. Jorge, Masayo Kagami, Agnes Linglart, Mohamad Maghnie, Klaus Mohnike, David Monk, Gudrun E. Moore, Philip G. Murray, Tsutomu Ogata, Isabelle Oliver Petit, Silvia Russo, Edith Said, Meropi Toumba, Zeynep Tümer, Gerhard Binder, Thomas Eggermann, Madeleine D. Harbison, I. Karen Temple, Deborah J. G. Mackay, and Irène Netchine. Diagnosis and management of silver–russell syndrome: first international consensus statement. Nature Reviews Endocrinology, 13:105-124, Feb 2017. URL: https://doi.org/10.1038/nrendo.2016.138, doi:10.1038/nrendo.2016.138. This article has 610 citations and is from a domain leading peer-reviewed journal.

3. (jang2025silver–russellsyndromefrom pages 1-2): K Jang and J Moon. Silver–russell syndrome: from molecular pathogenesis to clinical management. Unknown journal, 2025.

4. (geoffron2018chromosome14q32.2imprinted pages 2-3): Sophie Geoffron, Walid Abi Habib, Sandra Chantot-Bastaraud, Béatrice Dubern, Virginie Steunou, Salah Azzi, Alexandra Afenjar, Tiffanny Busa, Ana Pinheiro Canton, Christel Chalouhi, Marie-Noëlle Dufourg, Blandine Esteva, Mélanie Fradin, David Geneviève, Solveig Heide, Bertrand Isidor, Agnès Linglart, Fanny Morice Picard, Catherine Naud-Saudreau, Isabelle Oliver Petit, Nicole Philip, Catherine Pienkowski, Marlène Rio, Sylvie Rossignol, Maithé Tauber, Julien Thevenon, Thuy-Ai Vu-Hong, Madeleine D Harbison, Jennifer Salem, Frédéric Brioude, Irène Netchine, and Eloïse Giabicani. Chromosome 14q32.2 imprinted region disruption as an alternative molecular diagnosis of silver-russell syndrome. The Journal of Clinical Endocrinology & Metabolism, 103:2436–2446, Jul 2018. URL: https://doi.org/10.1210/jc.2017-02152, doi:10.1210/jc.2017-02152. This article has 76 citations.

5. (wakeling2017diagnosisandmanagement pages 7-10): Emma L. Wakeling, Frédéric Brioude, Oluwakemi Lokulo-Sodipe, Susan M. O'Connell, Jennifer Salem, Jet Bliek, Ana P. M. Canton, Krystyna H. Chrzanowska, Justin H. Davies, Renuka P. Dias, Béatrice Dubern, Miriam Elbracht, Eloise Giabicani, Adda Grimberg, Karen Grønskov, Anita C. S. Hokken-Koelega, Alexander A. Jorge, Masayo Kagami, Agnes Linglart, Mohamad Maghnie, Klaus Mohnike, David Monk, Gudrun E. Moore, Philip G. Murray, Tsutomu Ogata, Isabelle Oliver Petit, Silvia Russo, Edith Said, Meropi Toumba, Zeynep Tümer, Gerhard Binder, Thomas Eggermann, Madeleine D. Harbison, I. Karen Temple, Deborah J. G. Mackay, and Irène Netchine. Diagnosis and management of silver–russell syndrome: first international consensus statement. Nature Reviews Endocrinology, 13:105-124, Feb 2017. URL: https://doi.org/10.1038/nrendo.2016.138, doi:10.1038/nrendo.2016.138. This article has 610 citations and is from a domain leading peer-reviewed journal.

6. (geoffron2018chromosome14q32.2imprinted pages 1-2): Sophie Geoffron, Walid Abi Habib, Sandra Chantot-Bastaraud, Béatrice Dubern, Virginie Steunou, Salah Azzi, Alexandra Afenjar, Tiffanny Busa, Ana Pinheiro Canton, Christel Chalouhi, Marie-Noëlle Dufourg, Blandine Esteva, Mélanie Fradin, David Geneviève, Solveig Heide, Bertrand Isidor, Agnès Linglart, Fanny Morice Picard, Catherine Naud-Saudreau, Isabelle Oliver Petit, Nicole Philip, Catherine Pienkowski, Marlène Rio, Sylvie Rossignol, Maithé Tauber, Julien Thevenon, Thuy-Ai Vu-Hong, Madeleine D Harbison, Jennifer Salem, Frédéric Brioude, Irène Netchine, and Eloïse Giabicani. Chromosome 14q32.2 imprinted region disruption as an alternative molecular diagnosis of silver-russell syndrome. The Journal of Clinical Endocrinology & Metabolism, 103:2436–2446, Jul 2018. URL: https://doi.org/10.1210/jc.2017-02152, doi:10.1210/jc.2017-02152. This article has 76 citations.

7. (kurup2025silverrussellsyndromesecondary pages 1-2): Uttara Kurup, David B. N. Lim, Avinaash V. Maharaj, Miho Ishida, Justin H. Davies, and Helen L. Storr. Silver-russell syndrome secondary to rare (epi)genotypes exhibits phenotypic heterogeneity challenging clinical diagnosis. Clinical Epigenetics, Dec 2025. URL: https://doi.org/10.1186/s13148-025-02023-7, doi:10.1186/s13148-025-02023-7. This article has 1 citations and is from a peer-reviewed journal.

8. (hong2024prenataldiagnosisof pages 7-7): Shurong Hong, Hua Wei, Xueyi Zhuang, Weirong Huang, and Yu Zhang. Prenatal diagnosis of a silver-russell syndrome caused by 11p15 duplication and pedigree analysis. Frontiers in Genetics, Dec 2024. URL: https://doi.org/10.3389/fgene.2024.1465521, doi:10.3389/fgene.2024.1465521. This article has 0 citations and is from a peer-reviewed journal.

9. (wakeling2017diagnosisandmanagement media 5493aae2): Emma L. Wakeling, Frédéric Brioude, Oluwakemi Lokulo-Sodipe, Susan M. O'Connell, Jennifer Salem, Jet Bliek, Ana P. M. Canton, Krystyna H. Chrzanowska, Justin H. Davies, Renuka P. Dias, Béatrice Dubern, Miriam Elbracht, Eloise Giabicani, Adda Grimberg, Karen Grønskov, Anita C. S. Hokken-Koelega, Alexander A. Jorge, Masayo Kagami, Agnes Linglart, Mohamad Maghnie, Klaus Mohnike, David Monk, Gudrun E. Moore, Philip G. Murray, Tsutomu Ogata, Isabelle Oliver Petit, Silvia Russo, Edith Said, Meropi Toumba, Zeynep Tümer, Gerhard Binder, Thomas Eggermann, Madeleine D. Harbison, I. Karen Temple, Deborah J. G. Mackay, and Irène Netchine. Diagnosis and management of silver–russell syndrome: first international consensus statement. Nature Reviews Endocrinology, 13:105-124, Feb 2017. URL: https://doi.org/10.1038/nrendo.2016.138, doi:10.1038/nrendo.2016.138. This article has 610 citations and is from a domain leading peer-reviewed journal.

10. (wakeling2017diagnosisandmanagement pages 14-17): Emma L. Wakeling, Frédéric Brioude, Oluwakemi Lokulo-Sodipe, Susan M. O'Connell, Jennifer Salem, Jet Bliek, Ana P. M. Canton, Krystyna H. Chrzanowska, Justin H. Davies, Renuka P. Dias, Béatrice Dubern, Miriam Elbracht, Eloise Giabicani, Adda Grimberg, Karen Grønskov, Anita C. S. Hokken-Koelega, Alexander A. Jorge, Masayo Kagami, Agnes Linglart, Mohamad Maghnie, Klaus Mohnike, David Monk, Gudrun E. Moore, Philip G. Murray, Tsutomu Ogata, Isabelle Oliver Petit, Silvia Russo, Edith Said, Meropi Toumba, Zeynep Tümer, Gerhard Binder, Thomas Eggermann, Madeleine D. Harbison, I. Karen Temple, Deborah J. G. Mackay, and Irène Netchine. Diagnosis and management of silver–russell syndrome: first international consensus statement. Nature Reviews Endocrinology, 13:105-124, Feb 2017. URL: https://doi.org/10.1038/nrendo.2016.138, doi:10.1038/nrendo.2016.138. This article has 610 citations and is from a domain leading peer-reviewed journal.

11. (jang2025silver–russellsyndromefrom pages 5-6): K Jang and J Moon. Silver–russell syndrome: from molecular pathogenesis to clinical management. Unknown journal, 2025.

12. (jang2025silver–russellsyndromefrom pages 2-4): K Jang and J Moon. Silver–russell syndrome: from molecular pathogenesis to clinical management. Unknown journal, 2025.

13. (NCT06878716 chunk 1): Silver Russell Syndrome, Parental Fertility and Assisted Reproductive Technology. Assistance Publique - Hôpitaux de Paris. 2025. ClinicalTrials.gov Identifier: NCT06878716

14. (NCT05214742 chunk 1): Developing Derived Induced Pluripotent Stem Cells as a Model to Understand Imprinted Disorders. Institute of Cardiometabolism and Nutrition, France. 2022. ClinicalTrials.gov Identifier: NCT05214742

15. (NCT01842659 chunk 1): Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes. Assistance Publique - Hôpitaux de Paris. 2013. ClinicalTrials.gov Identifier: NCT01842659

16. (wesseler2019molecularandclinical pages 11-13): Katharina Wesseler, Florian Kraft, and Thomas Eggermann. Molecular and clinical opposite findings in 11p15.5 associated imprinting disorders: characterization of basic mechanisms to improve clinical management. International Journal of Molecular Sciences, 20:4219, Aug 2019. URL: https://doi.org/10.3390/ijms20174219, doi:10.3390/ijms20174219. This article has 15 citations.

17. (NCT05945576 chunk 2): IDMet (RaDiCo Cohort) (RaDiCo-IDMet). Institut National de la Santé Et de la Recherche Médicale, France. 2017. ClinicalTrials.gov Identifier: NCT05945576

18. (hong2024prenataldiagnosisof pages 1-2): Shurong Hong, Hua Wei, Xueyi Zhuang, Weirong Huang, and Yu Zhang. Prenatal diagnosis of a silver-russell syndrome caused by 11p15 duplication and pedigree analysis. Frontiers in Genetics, Dec 2024. URL: https://doi.org/10.3389/fgene.2024.1465521, doi:10.3389/fgene.2024.1465521. This article has 0 citations and is from a peer-reviewed journal.

19. (NCT02859688 chunk 1): Can Epimutations be Inherited? How to Manage Patients With Imprinting-related Diseases Who Wish to Become Parents. Centre Hospitalier Universitaire Dijon. 2015. ClinicalTrials.gov Identifier: NCT02859688

20. (jang2025silver–russellsyndromefrom pages 6-7): K Jang and J Moon. Silver–russell syndrome: from molecular pathogenesis to clinical management. Unknown journal, 2025.

21. (toni2024thegeneticlandscape pages 9-10): L. Toni, L. Plachy, P. Dusatkova, S. Amaratunga, Lenka Elblová, Z. Šumník, S. Koloušková, M. Šnajderová, B. Obermannová, Š. Průhová, and J. Lebl. The genetic landscape of children born small for gestational age with persistent short stature. Hormone Research in Paediatrics, 97:40-52, Apr 2023. URL: https://doi.org/10.1159/000530521, doi:10.1159/000530521. This article has 24 citations and is from a peer-reviewed journal.