{"orpha":178478,"name":"Infant botulism","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Infant intestinal botulism","Infant intestinal toxemia botulism","Infant intestinal toxin-mediated botulism","Infantile botulism"],"definition":"A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs). It is due to intestinal colonization by <i>Clostridium botulinum</i> leading to toxin-mediated infection with toxemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-178478/","orphanet_url":"https://www.orpha.net/en/disease/detail/178478","names":{"fr":{"name":"Botulisme infantile","synonyms":["Botulisme du nourrisson","Botulisme intestinal de l'enfant","Botulisme néonatal","Botulisme par colonisation intestinale de l'enfant","Botulisme par toxi-infection intestinale de l'enfant"],"definition":"Le botulisme infantile est une forme rare de botulisme , une maladie acquise rare de la jonction neuromusculaire avec paralysie flasque descendante due à la neurotoxine botulique (BoNT), qui constitue une toxi-infection par colonisation intestinale de <i>Clostridium botulinum</i>."},"de":{"name":"Säuglingsbotulismus","definition":"Der Säuglingsbotulsmus ist eine seltene Form des Botulismus, einer seltenen erworbenen Störung der Muskelendplatte mit absteigender schlaffer Parese, verursacht durch Botulinum-Neurotoxine (BoNTs). Ursache ist die Besiedelung des Darms mit Clostridium botulinum deren Toxine in das Blut übergehen (Toxinämie)."},"es":{"name":"Botulismo infantil","synonyms":["Botulismo con toxemia intestinal infantil","Botulismo intestinal infantil","Botulismo intestinal por toxinas infantil"],"definition":"Es una forma rara de botulismo, una enfermedad rara adquirida de la unión neuromuscular con parálisis flácida descendente causada por la neurotoxina botulínica (BoNT). Se debe a una colonización intestinal de <i>Clostridium botulinum</i> que provoca una toxiinfección con toxemia."},"it":{"name":"Botulismo infantile","synonyms":["Botulismo infantile da tossiemia intestinale","Botulismo intestinale neonatale","Botulismo intestinale tossino-mediato infantile","Botulismo neonatale"],"definition":"Il botulismo infantile è una forma rara di botulismo (si veda questo termine), una malattia acquisita delle giunzioni neuromuscolari associata a paralisi flaccida discendente da neurotossine del botulino (BoNT). È dovuta alla colonizzazione intestinale da parte del Clostridium botulinum che causa un'infezione tossino-mediata con tossiemia."},"nl":{"name":"Botulisme bij zuigeling","synonyms":["Infantiel botulisme","Intestinaal botulisme bij zuigeling","Intestinaal toxemisch botulisme bij zuigeling","Intestinaal toxine-gemedieerd botulisme bij zuigeling"],"definition":"Een zeldzame vorm van botulisme, een zeldzame verworven aandoening van neuromusculaire overgang met afdalende slappe verlamming veroorzaakt door het botuline-neurotoxinen (BoNT's). Het is te wijten aan intestinale kolonisatie door <i>Clostridium botulinum</i> die leidt tot toxine-gemedieerde infectie met toxemie."},"pt":{"name":"Botulismo infantil","definition":"O botulismo infantil é uma forma rara de botulismo (ver este termo), uma doença adquirida rara da junção neuromuscular com paralisia flácida descendente causada por neurotoxinas botulínicas (BoNTs). É causada pela colonização intestinal por <i> Clostridium botulinum </ i> levando infecção mediada por toxina com toxemia."},"pl":{"name":"Botulizm niemowlęcy","synonyms":["Dziecięcy botulizm jelitowy"]},"cs":{"name":"Kojenecký botulismus","synonyms":["Kojenecký střevní botulismus","Kojenecký střevní toxemický botulismus","Kojenecký střevní botulismus způsobený toxinem"]},"uk":{"name":"Дитячий ботулізм","synonyms":["Дитячий кишковий ботулізм","Дитяча кишкова токсикоінфекція ботулізм","Ботулізм немовлят, спричинений кишковим токсином","Дитячий ботулізм"],"definition":"A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs). It is due to intestinal colonization by <i>Clostridium botulinum</i> leading to toxin-mediated infection with toxemia."},"zh":{"name":"婴儿型肉毒中毒","synonyms":["婴儿型肠毒素介导肉毒中毒"],"definition":"婴儿肉毒中毒是一种罕见的肉毒杆菌中毒，一种罕见的获得性神经肌肉连接疾病，由于肉毒杆菌的肠道定植导致毒素介导的毒血症所致，其主要临床表现为肉毒杆菌神经毒素（BoNTs）引起的下行性弛缓性麻痹。"},"tr":{"name":"Bebek botulizmi","synonyms":["İnfantil botulizm","Bebek bağırsak botulizmi","Bebek bağırsak toksemisi botulizmi","Bebek bağırsak toksin-aracılı botulizm"]}},"xrefs":[{"source":"ICD-10","code":"A05.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"1A11.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2113104711"},{"source":"MONDO","code":"0015804","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0238027","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68416,"name":"Rare infectious disease"},"parents":[{"orpha":178481,"name":"Intestinal botulism","classifications":[181,189,203]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Europe","status":"Validated","source":"[EXPERT]_Center for Diseases Control and Prevention[OTHER]_ ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.1,"area":"United States","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.2,"area":"Argentina","status":"Validated","source":"[EXPERT]"},{"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001620","label":"Abnormally high-pitched voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100021","label":"Cerebral palsy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001097","label":"Keratoconjunctivitis sicca","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011499","label":"Mydriasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000217","label":"Xerostomia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000600","label":"Abnormality of the pharynx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001695","label":"Cardiac arrest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Occasional (29-5%)","criteria":null}]}}