{"orpha":3201,"name":"Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Stoll-Kieny-Dott syndrome"],"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3201/","orphanet_url":"https://www.orpha.net/en/disease/detail/3201","names":{"fr":{"name":"Syndrome d'extrasystoles ventriculaires avec syncopes-pérodactylie-séquence de Robin","synonyms":["Syndrome de Stoll-Kieny-Dott"],"definition":"Le syndrome est caractérisé par des arythmies cardiaques (extrasystoles ventriculaires se manifestant par une tachycardie à rythme bigéminé ou multifocale avec des épisodes de syncope), une pérodactylie (hypoplasie et/ou agénésie des phalanges distales des orteils), et une séquence de Pierre Robin."},"de":{"name":"Ventrikuläre Extrasystolen mit synkopalen Episoden - Perodaktylie - Pierre-Robin-Sequenz","synonyms":["Extrasystolen, ventrikuläre - Perodaktylie - Pierre-Robin-Sequenz","Stoll-Kieny-Dott-Syndrom"],"definition":"Dieses Syndrom ist gekennzeichnet durch Herzrhythmusstörungen (ventrikuläre Extrasystolen in Form von Bigeminie oder multifokaler Tachykardie mit synkopalen Episoden), Perodaktylie (Hypoplasie und/oder Agenesie der distalen Zehenphalangen) und Pierre-Robin-Sequenz (s. dort)."},"es":{"name":"Síndrome de extrasístoles ventriculares con episodios sincopales-perodactilia-secuencia de Robin","synonyms":["Síndrome de Stoll-Kieny-Dott"],"definition":"Es un síndrome caracterizado por arritmias cardiacas (extrasístole ventricular que se manifiesta como bigeminismo o taquicardia multifocal con episodios sincopales), perodactilia (hipoplasia y/o agenesia de las falanges distales de los dedos gordos del pie) y secuencia de Pierre-Robin."},"it":{"name":"Extrasistoli ventricolari con episodi sincopali - perodattilia - sequenza di Robin","synonyms":["Sindrome di Stoll-Kieny-Dott"]},"nl":{"name":"Ventriculaire extrasystolen met syncopale episodes - perodactylie - Robin sequentie-syndroom","synonyms":["Syndroom van Stoll-Kieny-Dott"],"definition":"Een syndroom, gekenmerkt door hartritmestoornissen (ventriculaire extrasystolen die zich manifesteren als bigeminie of multifocale tachycardie met episodes van syncope), perodactylie (hypoplasie en/of agenesie van distale falangen van tenen) en Pierre Robin sequentie."},"pt":{"name":"Síndrome de extrasístoles ventriculares com episódios de síncope-perodactilia-sequência de Robin","synonyms":["Síndrome Stoll-Kieny-Dott"],"definition":"Este síndrome é caracterizado por arritmias cardíacas (extra-sístoles ventriculares manifestando-se como bigeminismo ou taquicardia multifocal, com episódios de síncope), perodactilia (hipoplasia e/ou agenesia de falanges distais dos dedos do pés) e sequência de Pierre-Robin (ver este termo)."},"pl":{"name":"Ekstrasystolia komorowa z epizodami omdlenia - perodaktylia - sekwencja Robina","synonyms":["Zespół Stolla, Kieny'ego i Dotta"]},"cs":{"name":"Syndrom zahrnující ventrikulární extrasystoly s epizodami synkop, perodaktylii a Robinovu sekvenci","synonyms":["Stollův-Kienyův-Dottové syndrom","Syndrom zahrnující ventrikulární extrasystoly s epizodami synkop, vrozené deformity prstů a Robinovu sekvenci","Stoll-Kieny-Dottové syndrom"]},"uk":{"name":"Синдром шлуночкової екстрасистолії з синкопальними епізодами-перодактилії-послідовності Пєра Робена","synonyms":["Синдром Штолля-Кіні-Дотта"],"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)."},"zh":{"name":"室性早搏伴晕厥-指(趾)不全-罗宾序列综合征","synonyms":["Stoll-Kieny-Dott综合征"]},"tr":{"name":"Senkop atakları olan ventriküler ekstrasistoller-perodaktili-Robin dizi sendromu","synonyms":["Stoll-Kieny-Dott sendromu"]}},"xrefs":[{"source":"OMIM","code":"192445","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008645","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304408","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5472","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-11","source":null,"terms":[{"hpo":"HP:0000277","label":"Abnormality of the mandible","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004408","label":"Abnormality of the sense of smell","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010185","label":"Aplasia/Hypoplasia of the distal phalanges of the toes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000176","label":"Submucous cleft hard palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000162","label":"Glossoptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010044","label":"Short 4th metacarpal","frequency":"Occasional (29-5%)","criteria":null}]}}