ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome
Findings
No curated finding names ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0008645), read 2026-09-29. CC BY 4.0.
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal mandible morphologyHPOHP:0000277
- Very frequent (80% to 99% of cases)
- Abnormality of the sense of smellHPOHP:0004408
- Very frequent (80% to 99% of cases)
- ArrhythmiaHPOHP:0011675
- Very frequent (80% to 99% of cases)
- Short distal phalanx of fingerHPOHP:0009882
- Very frequent (80% to 99% of cases)
- Short footHPOHP:0001773
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
Show the remaining 7
- Low anterior hairlineHPOHP:0000294
- Frequent (30% to 79% of cases)
- Submucous cleft hard palateHPOHP:0000176
- Frequent (30% to 79% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Occasional (5% to 29% of cases)
- GlossoptosisHPOHP:0000162
- Occasional (5% to 29% of cases)
- Intellectual disabilityHPOHP:0001249
- Occasional (5% to 29% of cases)
- MicrocephalyHPOHP:0000252
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome
- Also called
- Stoll-Kieny-Dott syndrome