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silver-Russell syndrome due to 7p11.2p13 microduplication - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

silver-Russell syndrome due to 7p11.2p13 microduplication

MONDO:0016479

Also known as:Silver-Russell syndrome due to 7p11.2-p13 microduplicationSilver-Russell syndrome due to dup(7)(p11.2p13)Silver-Russell syndrome due to trisomy 7p11.2-p13

Overview

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: Thin upper lip vermilion, Pointed chin, Short chin, and Blue sclerae and others; and sometimes findings: Labial hypoplasia, Short philtrum, Facial asymmetry, and Triangular face and others.

Organ System	Phenotype Count	Example Features
Head and neck	4	Thin upper lip vermilion, Relative macrocephaly, Facial asymmetry

Prognosis

Phenotype severity distribution: 12 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.

No clinical trials have been registered for silver-Russell syndrome due to 7p11.2p13 microduplication.

2 publications have been identified in PubMed for silver-Russell syndrome due to 7p11.2p13 microduplication. Research spans Case Report / Case Series (50%) and Epidemiology / Natural History (50%).

Recent Publications

Betoko RM (2026). [PMID: 42237104](https://pubmed.ncbi.nlm.nih.gov/42237104/). *BMC Pediatr*. [Case Report / Case Series]
Bu X (2025). [PMID: 40253570](https://pubmed.ncbi.nlm.nih.gov/40253570/). *Sci Rep*. [Epidemiology / Natural History]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:231137

GARD

Genetic and Rare Diseases Info Center

GARD:20603

Questions for Your Care Team

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silver-Russell syndrome due to 7p11.2p13 microduplication

Overview

Clinical Presentation

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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