{"orpha":71272,"name":"Sandifer syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-71272/","orphanet_url":"https://www.orpha.net/en/disease/detail/71272","names":{"fr":{"name":"Syndrome de Sandifer","definition":"Le syndrome de Sandifer est un trouble du mouvement de type dystonie paroxystique survenant en association avec un reflux gastro-oesophagien, et dans certains cas, une hernie hiatale."},"de":{"name":"Sandifer-Syndrom","definition":"Das Sandifer-Syndrom ist eine paroxysmale dystone Bewegungsstörung, bei der gleichzeitig ein gastro-ösophagealer Reflux und manchmal auch eine Hiatushernie besteht."},"es":{"name":"Síndrome de Sandifer","definition":"El síndrome de Sandifer es un trastorno que provoca movimientos distónicos paroxísticos en asociación con el reflujo gastroesofágico y, en algunos casos, con la hernia de hiato."},"it":{"name":"Sindrome di Sandifer"},"nl":{"name":"Syndroom van Sandifer","definition":"Syndroom van Sandifer is een paroxysmale dystonische bewegingsstoornis die optreedt in associatie met gastro-oesofageale reflux en, in sommige gevallen, hiatusbreuk (maagbreuk)."},"pt":{"name":"Síndrome de Sandifer"},"pl":{"name":"Zespół Sandifera"},"cs":{"name":"Sandiferův syndrom"},"uk":{"name":"Синдром Сандіфера","definition":"Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia."},"zh":{"name":"Sandifer综合征"},"tr":{"name":"Sandifer sendromu"}},"xrefs":[{"source":"ICD-10","code":"G24.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A02.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019104","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537234","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0338465","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9684","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10066142","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":101936,"name":"Rare gastroesophageal disease","classifications":[152]},{"orpha":306768,"name":"Rare paroxysmal movement disorder","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-11-21","source":"855842[PMID]_16614981[PMID]_26697813[PMID]","terms":[{"hpo":"HP:0002457","label":"Abnormal head movements","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002533","label":"Abnormal posturing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012547","label":"Abnormal involuntary eye movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004637","label":"Decreased cervical spine mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410019","label":"Epigastric pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100633","label":"Esophagitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002248","label":"Hematemesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002036","label":"Hiatus hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002572","label":"Episodic vomiting","frequency":"Occasional (29-5%)","criteria":null}]}}