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silver-Russell syndrome due to 11p15 microduplication - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

silver-Russell syndrome due to 11p15 microduplication

MONDO:0016481

Find Clinical TrialsTrials

Overview

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Triangular face, Failure to thrive, Intrauterine growth retardation, and Small for gestational age and others; and sometimes findings: Facial asymmetry, Motor delay, Specific learning disability, and Umbilical hernia and others.

Organ System	Phenotype Count	Example Features
Growth and development	5	Failure to thrive, Intrauterine growth retardation, Short stature

Diagnosis

Biomarker and diagnostic research for silver-Russell syndrome due to 11p15 microduplication has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

2 publications have been identified in PubMed for silver-Russell syndrome due to 11p15 microduplication. Research spans Diagnostic / Biomarker (50%) and Case Report / Case Series (50%).

Recent Publications

Kessler L (2025). [PMID: 39663844](https://pubmed.ncbi.nlm.nih.gov/39663844/). *Clin Genet*. [Diagnostic / Biomarker]
Vimercati A (2025). [PMID: 41429883](https://pubmed.ncbi.nlm.nih.gov/41429883/). *Sci Rep*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:21 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:231144

GARD

Genetic and Rare Diseases Info Center

GARD:20605

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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silver-Russell syndrome due to 11p15 microduplication

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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