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ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome

MONDO:0008645

Also known as:Stoll-Kieny-Dott syndromeventricular extrasystoles perodactyly Robin sequenceventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence

Overview

This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence.

GeneticsAutosomal dominant

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: Abnormal mandible morphology, Tapered finger, Short foot, and Short toe and others; and common findings: Submucous cleft hard palate, Aplasia/Hypoplasia of the distal phalanges of the toes, Low anterior hairline, and Hypodontia and others. 25 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	6	Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, Short foot

Prognosis

Phenotype severity distribution: 8 very common features, 6 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 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome.

127 publications have been identified in PubMed for ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome. Research spans Review / Meta-Analysis (69%), Basic Science / Preclinical (16%), and Epidemiology / Natural History (7%).

Research Type	Count	% of Total
Research summaries	88	69%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:192445

Orphanet

European rare disease database

Orphanet:3201

GARD

Genetic and Rare Diseases Info Center

GARD:5472

Questions for Your Care Team

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Kisho

ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications