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silver-Russell syndrome due to an imprinting defect of 11p15 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

silver-Russell syndrome due to an imprinting defect of 11p15

MONDO:0016480

Also known as:Silver-Russell syndrome due to an imprinting defect of type 11p15

Overview

ResearchLimited published research (1 article)

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 very common findings: Triangular face, Short chin, Small for gestational age, and Delayed skeletal maturation and others; and common findings: High palate, Protruding ear, Dental crowding, and Clinodactyly of the 5th finger and others. 28 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	3	Triangular face, High palate, Relative macrocephaly

Prognosis

Phenotype severity distribution: 6 very common features, 11 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 an imprinting defect of 11p15.

1 publication has been identified in PubMed for silver-Russell syndrome due to an imprinting defect of 11p15. Research spans Case Report / Case Series (100%).

Recent Publications

Galeva S (2025). [PMID: 39859127](https://pubmed.ncbi.nlm.nih.gov/39859127/). *Medicina (Kaunas)*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 10:21 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:231140

GARD

Genetic and Rare Diseases Info Center

GARD:20604

Questions for Your Care Team

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silver-Russell syndrome due to an imprinting defect of 11p15

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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