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silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

silver-Russell syndrome due to maternal uniparental disomy of chromosome 11

MONDO:0016482

Also known as:Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 11UPD(11)mat

Find Clinical TrialsTrials

Overview

Clinical Trials1 registered · 1 recruiting

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 common findings: Triangular face, Small for gestational age, Frontal bossing, and Clinodactyly of the 5th finger; and sometimes findings: Cleft palate, Facial asymmetry, Bone and joint problems (abnormality of the skeletal system), and Excessive sweating (hyperhidrosis) and others.

Organ System	Phenotype Count	Example Features
Head and neck	4	Triangular face, Cleft palate, Facial asymmetry

Prognosis

Phenotype severity distribution: 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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.

1 publication has been identified in PubMed for silver-Russell syndrome due to maternal uniparental disomy of chromosome 11. Research spans Epidemiology / Natural History (100%).

Recent Publications

Kim J (2026). [PMID: 40675935](https://pubmed.ncbi.nlm.nih.gov/40675935/). *Ann Lab Med*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 21, 2026, 4:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:231147

GARD

Genetic and Rare Diseases Info Center

GARD:20606

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 maternal uniparental disomy of chromosome 11

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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