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radio-renal syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

radio-renal syndrome

MONDO:0008359

Also known as:radial-renal syndrome

Overview

Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.

GeneticsAutosomal dominant

ResearchLimited published research (7 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 always present findings: Short stature, Chromosome breakage, Absent thumb, and Absent radius; and common findings: Unilateral renal agenesis and Ectopic kidney. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	2	Unilateral renal agenesis, Ectopic kidney

Prognosis

Phenotype severity distribution: 4 always present features, 2 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.

No clinical trials have been registered for radio-renal syndrome.

7 publications have been identified in PubMed for radio-renal syndrome. Research spans Case Report / Case Series (43%), Review / Meta-Analysis (29%), and Clinical Trial Publication (14%).

Recent Publications

Sinha S (2026). [PMID: 41500704](https://pubmed.ncbi.nlm.nih.gov/41500704/). *BMJ Case Rep*. [Case Report / Case Series]
Van Damme M (2026). [PMID: 42251484](https://pubmed.ncbi.nlm.nih.gov/42251484/). *Acta Clin Belg*. [Review / Meta-Analysis]
Ferroul F (2025). [PMID: 41005613](https://pubmed.ncbi.nlm.nih.gov/41005613/). *Eur J Med Genet*. [Case Report / Case Series]
Sadacharan D (2025). [PMID: 40181859](https://pubmed.ncbi.nlm.nih.gov/40181859/). *Indian J Endocrinol Metab*. [Epidemiology / Natural History]
Marcello N (2025). [PMID: 38205610](https://pubmed.ncbi.nlm.nih.gov/38205610/). *J Vasc Access*. [Clinical Trial Publication]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:179280

Orphanet

European rare disease database

Orphanet:3015

GARD

Genetic and Rare Diseases Info Center

GARD:224

Questions for Your Care Team

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radio-renal syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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