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Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
Disease 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 (see this term).
ORPHA:3201
Classification level: DisorderSummary
Epidemiology
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.
Clinical description
An additional feature may be an antimongoloid slant of the palpebral fissures.
Etiology
Etiology remains unknown.
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