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Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence

Orpha number ORPHA3201
Synonym(s) Stoll-Kieny-Dott syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Unknown
Age of onset Neonatal/infancy
ICD-10
  • Q87.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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 (see this term). It has initially been reported in six patients from three generations of one family. Four affected members of another family manifesting a similar constellation of clinical features have recently been reported. An additional feature may be an antimongoloid slant of the palpebral fissures. Etiology remains unknown.


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