An Entity of Type: disease, from Named Graph: http://dbpedia.org, within Data Space: dbpedia.org

Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome is a rare autosomal dominant genetic disorder characterized by cardiofaciodigital anomalies occurring alongside Pierre Robin sequence. Additional features include abnormal sense of smell, camptodactyly, recurrent joint dislocations, and short stature. Around 6 to 12 cases have been described in medical literature. This condition has also been called heart-hand syndrome type 5.

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dbo:abstract
  • Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome is a rare autosomal dominant genetic disorder characterized by cardiofaciodigital anomalies occurring alongside Pierre Robin sequence. Additional features include abnormal sense of smell, camptodactyly, recurrent joint dislocations, and short stature. Around 6 to 12 cases have been described in medical literature. This condition has also been called heart-hand syndrome type 5. (en)
dbo:alias
  • (en)
  • Ventricular extrasystoles with syncope, perodactyly, and Robin sequence, Stoll-Kieny-Dott syndrome, Ventricular extrasystoles perodactyly Robin sequence (en)
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  • 71833802 (xsd:integer)
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  • 8394 (xsd:nonNegativeInteger)
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  • 1112068781 (xsd:integer)
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dbp:causes
dbp:deaths
  • - (en)
dbp:frequency
  • rare (en)
dbp:name
  • Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome (en)
dbp:onset
  • Birth and Childhood (en)
dbp:prevention
  • none (en)
dbp:specialty
dbp:synonyms
  • Ventricular extrasystoles with syncope, perodactyly, and Robin sequence, Stoll-Kieny-Dott syndrome, Ventricular extrasystoles perodactyly Robin sequence (en)
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rdfs:comment
  • Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome is a rare autosomal dominant genetic disorder characterized by cardiofaciodigital anomalies occurring alongside Pierre Robin sequence. Additional features include abnormal sense of smell, camptodactyly, recurrent joint dislocations, and short stature. Around 6 to 12 cases have been described in medical literature. This condition has also been called heart-hand syndrome type 5. (en)
rdfs:label
  • Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome (en)
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