{"orpha":1913,"name":"Fetal trimethadione syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1913/","orphanet_url":"https://www.orpha.net/en/disease/detail/1913","names":{"fr":{"name":"Embryopathie à la triméthadione","synonyms":["Exposition anténatale à la triméthadione"],"definition":"L'embryopathie à la triméthadione est une embryofoetopathie médicamenteuse pouvant survenir lorsqu'un embryon/foetus est exposé à la triméthadione. Elle se caractérise par un retard de croissance pré- et postnatale, une déficience intellectuelle, un retard de langage et du développement, des anomalies craniofaciales (avec quelques similarités avec celles observées dans l'embryofoetopathie au valproate), et plus rarement, une fente palatine, des malformations cardiaques, du système urogénital et des membres. La triméthadione est un médicament antiépileptique qui a été retiré du marché en Europe et n'est plus beaucoup utilisé dans les autres pays à cause de sa tératogénicité et des effets secondaires potentiels."},"de":{"name":"Trimethadion-Embryopathie","synonyms":["Trimethadion-Exposition, vorgeburtliche","Trimethadion-Syndrom, fetales"]},"es":{"name":"Síndrome fetal por trimetadiona","synonyms":["Embriopatía por trimetadiona","Exposición fetal a la trimetadiona"],"definition":"Es una embriofetopatía asociada a medicamentos que puede presentarse cuando un embrión / feto es expuesto a trimetadiona. Se caracteriza por retraso en el crecimiento pre- y postnatal, discapacidad intelectual, retraso en el desarrollo y el habla, anomalías craneofaciales (con algunas similitudes a las observadas en el síndrome fetal por valproato) y, con menor frecuencia, paladar hendido, malformaciones cardíacas, del sistema urogenital y de las extremidades. La trimetadiona es un fármaco antiepiléptico que se ha retirado del mercado en Europa y que prácticamente no se prescribe en otros países debido a su teratogenicidad y a los posibles efectos secundarios."},"it":{"name":"Embriopatia da trimetadione","synonyms":["Esposizione prenatale al trimetadione"],"definition":"L'embriopatia da trimetadione è un'embrio/fetopatia correlato ad un farmaco; più specificamente è causata dall'esposizione dell'embrione/feto al trimetadione. E' caratterizzata da ritardo della crescita prenatale e postnatale, deficit cognitivo, ritardo dello sviluppo e del linguaggio, dismorfismi craniofacciali (in parte simili a quelli osservati nell'embriopatia da acido valproico) e, raramente, palatoschisi, cardiopatie congenite, anomalie dell'apparato urogenitale e degli arti. Il trimetadione è un farmaco entiepilettico ritirato dal mercato europeo e oggi scarsamente utilizzato anche negli altri Paesi a causa della sua teratogenicità e dei potenziali effetti collaterali."},"nl":{"name":"Foetaal trimethadionsyndroom","synonyms":["Antenatale trimethadioninfectie"],"definition":"Een medicijn-gerelateerde embryofoetopathie die kan voorkomen wanneer een embryo/foetus wordt blootgesteld aan trimethadion, en die gekarakteriseerd wordt door pre- en postnatale groeiretardatie, intellectuele achterstand, ontwikkelings- en spraakachterstand, craniofaciale anomalieën (met enkele gelijkenissen met diegenen die waargenomen worden bij foetaal valproaatsyndroom), en minder vaak voorkomend gespleten verhemelte, en malformaties van hart, urogenitaal systeem en ledematen. Trimethadion is een anti-epilepticum dat in Europa van de markt werd gehaald en in andere landen niet veel meer wordt gebruikt vanwege de teratogeniciteit en potentiële bijwerkingen."},"pt":{"name":"Síndrome trimetadiona fetal","synonyms":["Embriofetopatia por trimetadiona"]},"pl":{"name":"Płodowy zespół trimetadionowy"},"cs":{"name":"Fetální trimetadionový syndrom"},"uk":{"name":"Фетальний триметадіоновий синдром","definition":"A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects."},"zh":{"name":"胎儿三甲双酮综合征"},"tr":{"name":"Fetal trimetadiyon 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":"1743242235"},{"source":"MONDO","code":"0016009","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537798","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265373","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":370068,"name":"Fetal anticonvulsant syndrome","classifications":[147,204,216]},{"orpha":138059,"name":"Teratogenic Pierre Robin syndrome","classifications":[147,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011039","label":"Abnormal helix morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000396","label":"Overfolded helix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001669","label":"Transposition of the great arteries","frequency":"Occasional (29-5%)","criteria":null}]}}