{"orpha":1908,"name":"Aminopterin/methotrexate embryofetopathy","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Aminopterin embryopathy syndrome","Fetal aminopterin syndrome"],"definition":"A syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1908/","orphanet_url":"https://www.orpha.net/en/disease/detail/1908","names":{"fr":{"name":"Embryofoetopathie à l'aminoptérine/méthotrexate","synonyms":["Exposition anténatale au méthotrexate","Exposition anténatale à l'aminoptérine"],"definition":"L'embryofoetopathie à l'aminoptérine/méthotrexate (EAM) est un syndrome d'anomalies du développement caractérisé par un retard de croissance, une dysmorphie faciale et crânienne, des malformations des membres et neurologiques causés par l'exposition de la mère à l'aminoptérine ou au méthotrexate pendant la grossesse."},"de":{"name":"Aminopterin/Methotrexat-Embryopathie","synonyms":["Aminopterin-Embryopathie","Aminopterin-Exposition, vorgeburtliche","Aminopterin-Syndrom, fetales"],"definition":"Die Aminopterin/Methotrexat-Embryofetopathie ist ein Fehlbildungssyndrom mit mangelhaftem Wachstum, fazialen Dysmorphien und Defekten des Schädels, der Gliedmassen und des Nervensystems als Folge mütterlicher Exposition mit Aminopterin oder Methotrexat (MTX) während der Schwangerschaft."},"es":{"name":"Embriofetopatía por aminopterina/metotrexato","synonyms":["Síndrome de aminopterina fetal","Síndrome de embriopatía por aminopterina"],"definition":"Es un síndrome de anomalías del desarrollo caracterizado por crecimiento deficitario, dismorfia facial, y defectos neurales, del cráneo y de las extremidades como efecto secundario a la exposición materna a la aminopterina o el metrotexato (MTX) durante el embarazo."},"it":{"name":"Embriofetopatia da aminopterina/methotrexate","synonyms":["Embriopatia sindromica da aminopterina","Sindrome fetale da aminopterina"],"definition":"L'embriofetopatia da aminopterina/methotrexate è una sindrome da difetti dello sviluppo, caratterizzata da deficit della crescita, dismorfismi facciali, difetti del tubo neurale, del cranio e degli arti, secondari all'esposizione materna all'aminopterina o al methotrexate (MTX) durante la gravidanza."},"nl":{"name":"Aminopterine/methotrexaat-embryofoetopathie","synonyms":["Aminopterine-embryopathiesyndroom","Foetaal aminopterinesyndroom"],"definition":"Een syndroom van ontwikkelingsanomalieën, gekarakteriseerd door groeideficiëntie, faciale dysmorfie, schedel- en ledemaatdefecten en neurale stoornissen, secundair aan maternale blootstelling aan aminopterine of methotrexaat (MTX) tijdens de zwangerschap."},"pt":{"name":"Embriofetopatia por aminopterina/metotrexato","synonyms":["Síndrome aminopterina fetal"],"definition":"A embriofetopatia por aminopterina é uma síndrome de anomalias do desenvolvimento caracterizada por deficiência de crescimento, dismorfismo facial e do crânio, defeitos neurais e nos membros, secundários à exposição materna a aminopterina ou metotrexato (MTX) durante a gravidez."},"pl":{"name":"Embriofetopatia aminopterynowa/metotreksatowa","synonyms":["Płodowy zespół aminopterynowy","Zespół embriopatii aminopterynowej"]},"cs":{"name":"Aminopterinová/metotrexátová embryofetopatie","synonyms":["Syndrom aminopterinové embryopatie","Fetální aminopterinový syndrom"]},"uk":{"name":"Аміноптерин/метотрексатна ембріофетопатія","synonyms":["Синдром аміноптеринової ембріопатії","Фетальний аміноптериновий синдром"],"definition":"A syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy."},"zh":{"name":"氨基蝶呤/甲氨蝶呤胚胎胎儿病","synonyms":["氨基蝶呤胚胎病综合征"]},"tr":{"name":"Aminopterin / metotreksat embriyofetopati","synonyms":["fetal aminopterin sendromu","Aminopterin embriyopati sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q86.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"492190859"},{"source":"MONDO","code":"0016004","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432367","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2294","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10071183","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":138059,"name":"Teratogenic Pierre Robin syndrome","classifications":[147,200,209]},{"orpha":251529,"name":"Toxic or drug-related embryofetopathy","classifications":[147,204,216]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002323","label":"Anencephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003027","label":"Mesomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009891","label":"Underdeveloped supraorbital ridges","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002435","label":"Meningocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004935","label":"Pulmonary artery atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001696","label":"Situs inversus totalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001792","label":"Small nail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010301","label":"Spinal dysraphism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}