Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome

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).



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 19

HPO ID Term Frequency
HP:0000277 Abnormality of the mandible Very frequent (99-80%)
HP:0001182 Tapered finger Very frequent (99-80%)
HP:0001773 Short foot Very frequent (99-80%)
HP:0001831 Short toe Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0004408 Abnormality of the sense of smell Very frequent (99-80%)
HP:0009882 Short distal phalanx of finger Very frequent (99-80%)
HP:0011675 Arrhythmia Very frequent (99-80%)
HP:0000176 Submucous cleft hard palate Frequent (79-30%)
HP:0000294 Low anterior hairline Frequent (79-30%)
HP:0000668 Hypodontia Frequent (79-30%)
HP:0001373 Joint dislocation Frequent (79-30%)
HP:0002705 High, narrow palate Frequent (79-30%)
HP:0010185 Aplasia/Hypoplasia of the distal phalanges of the toes Frequent (79-30%)
HP:0000162 Glossoptosis Occasional (29-5%)
HP:0000252 Microcephaly Occasional (29-5%)
HP:0001249 Intellectual disability Occasional (29-5%)
HP:0010044 Short 4th metacarpal Occasional (29-5%)
HP:0100490 Camptodactyly of finger Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID