{"orpha":1923,"name":"Methimazole embryofetopathy","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MMI/CMZ embryofetopathy","MMI/CMZ embryopathy","Methimazole/carbimazole embryofetopathy","Methimazole/carbimazole embryopathy"],"definition":"A teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1923/","orphanet_url":"https://www.orpha.net/en/disease/detail/1923","names":{"fr":{"name":"Embryofoetopathie au méthimazole","synonyms":["Embryofoetopathie au MMI/CMZ","Embryofoetopathie au méthimazole/carbimazole","Embryopathie au MMI/CMZ","Embryopathie au méthimazole/carbimazole","Exposition anténatale au MMI/CMZ","Exposition anténatale au méthimazole/carbimazole"],"definition":"L'embryofoetopathie au méthimazole est une embryofoetopathie tératogène résultant de l'exposition maternelle au méthimazole (MMI ; ou au carbimazole, composé parent) au cours du premier trimestre de grossesse. Le MMI est un agent thionamide antithyroïdien utilisé dans le traitement de la maladie de Graves. Chez le nourrisson, le MMI peut induire une atrésie des choanes, une atrésie oesophagienne, un omphalocèle, des anomalies du canal omphalo-mésenterique, une cardiopathie congénitale (telle qu'une communication interventriculaire), des malformations rénales et une aplasie cutanée. D'autres signes peuvent être observés, dont une dysmorphie faciale (fentes palpébrales étroites obliques en haut et en dehors, arête nasale large avec un petit nez, front large) et une athélie/hypothélie."},"de":{"name":"Methimazol-Embryofetopathie","synonyms":["Carbimazol-Embryofetopathie","MMI/CMZ-Embryofetopathie","MMI/CMZ-Embryopathie","Methimazol/Carbimazol-Embryofetopathie","Methimazol/Carbimazol-Embryopathie"]},"es":{"name":"Embriofetopatía por metimazol","synonyms":["Embriofetopatía MMI/CMZ","Embriofetopatía por metimazol/carbimazol","Embriopatía MMI/CMZ","Embriopatía por metimazol/carbimazol"],"definition":"Es una embriofetopatía teratogénica, resultado de la exposición materna en el primer trimestre del embarazo al metimazol (MMI), o al compuesto primario carbimazol. MMI es un fármaco antitiroideo de tionamida utilizado para el tratamiento de la enfermedad de Graves (hipertiroidismo). En el feto ,el MMI puede provocar atresia de coanas, atresia esofágica, onfalocele, anomalías en el conducto onfalomesentérico, cardiopatía congénita (tal como comunicación interventricular), malformaciones en el sistema renal y aplasia cutis. Se pueden observar otras características adicionales que incluyen dismorfia facial (fisuras palpebrales cortas inclinadas hacia arriba, puente nasal ancho con una nariz pequeña y frente ancha) y atelia / hipotelia."},"it":{"name":"Embrio/fetopatia da metimazolo","synonyms":["Embriofetopatia da carbimazolo"],"definition":"L'embriopatia da metimazolo è un'embrio/fetopatia teratologica causata dall'esposizione materna al metimazolo (MMI; oppure il composto progenitore carbimazolo) durante il primo trimestre della gravidanza. Il metimazolo è un farmaco antitiroideo appartenente alla classe delle tionamidi, utilizzato nel trattamento della malattia di Graves. Nei neonati l'esposizione al metimazolo può causare atresia delle coane, atresia esofagea, onfalocele, anomalie del dotto onfalomesenterico, cardiopatie congenite (difetti del setto ventricolare), malformazioni renali e aplasia cutis (si vedano questi termini). Altri segni comprendono i dismorfismi facciali (rime palpebrali corte rivolte verso l'alto, sella nasale ampia, naso piccolo e fronte ampia) e l'atelia/ipotelia."},"nl":{"name":"Methimazol-embryofoetopathie","synonyms":["MMI/CMZ-embryofoetopathie","MMI/CMZ-embryopathie","Methimazol/carbimazol-embryofoetopathie","Methimazol/carbimazol-embryopathie"],"definition":"Een teratogene embryofoetopathie als gevolg van blootstelling van de moeder aan methimazol (MMI; of de oorspronkelijke stof carbimazol) tijdens het eerste trimester van de zwangerschap. MMI is een antithyroïde geneesmiddel met thioamide dat gebruikt wordt voor de behandeling van ziekte van Graves. In zuigelingen kan MMI leiden tot choane atresie, oesofageale atresie, omfalocèle, anomalieën van de omfalomesenterische ductus, congenitale hartziekte (zoals ventrikelseptumdefect), malformaties van het renale systeem en aplasia cutis. Bijkomende kenmerken die kunnen waargenomen worden, zijn onder meer faciale dysmorfie (korte en opwaarts hellende ooglidspleten, een brede neusbrug met een kleine neus en een breed voorhoofd) en athelie/hypothelie."},"pt":{"name":"Embriofetopatia por metimazol"},"pl":{"name":"Embriofetopatia metimazolowa","synonyms":["Embriopatia metimazolowa/karbamizolowa","Embriofetopatia metimazolowa/karbamizolowa"]},"cs":{"name":"Methimazolová embryopatie","synonyms":["Karbimazolová embryopatie"]},"uk":{"name":"Метимазолова ембріофетопатія","synonyms":["Метимазолова/карбімазолова ембріофетопатія","Метимазолова/карбімазолова ембріопатія","Ембріофетопатія MMI/CMZ","Ембріопатія MMI/CMZ"],"definition":"A teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia."},"zh":{"name":"甲巯咪唑胚胎胎儿病","synonyms":["甲巯咪唑/卡比马唑胚胎胎儿病"]},"tr":{"name":"Metimazol embriyofetopatisi","synonyms":["MMI / CMZ embriyopati","MMI / CMZ embriyofetopati","Metimazol / karbimazol embriyopatisi","Metimazol / karbimazol embriyofetopati"]}},"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":"1204409156"},{"source":"MONDO","code":"0016017","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510379","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3573","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":40.0,"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:0002032","label":"Esophageal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001679","label":"Abnormal aortic morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000820","label":"Abnormality of the thyroid gland","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001362","label":"Skull defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100589","label":"Urogenital fistula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null}]}}