{"orpha":370076,"name":"Fetal carbamazepine syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Fetal carbamazepine syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome, such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. <i>In utero</i> exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370076/","orphanet_url":"https://www.orpha.net/en/disease/detail/370076","names":{"fr":{"name":"Embryofoetopathie à la carbamazépine","definition":"L'embryofoetopathie à la carbamazépine est une embryofoetopathie médicamenteuse pouvant survenir lorsqu'un embryon/foetus est exposé à la carbamazépine. Elle se caractérise par une dysmorphie faciale rappelant celle de l'embryofoetopathie au valproate , comprenant un épicanthus, des fentes palpébrales obliques en haut et en dehors, un nez court, une micrognathie et une hypoplasie malaire, ainsi qu'une dysplasie unguéale et des anomalies majeures dont une fente labiale/palatine, des anomalies du tube neural et des anomalies cardiaques. L'exposition <i>in utero</i> à la carbamazépine combinée au valproate est associée à un retard significatif du développement (affectant surtout l'intelligence verbale) et à un taux élevé d'anomalies congénitales."},"de":{"name":"Fetales Carbamazepin-Syndrom"},"es":{"name":"Síndrome fetal por carbamazepina","definition":"Es una embriofetopatía asociada a fármacos que puede presentarse cuando el embrión / feto es expuesto a carbamazepina. Se caracteriza por dismorfia facial, con rasgos similares a los observados en el síndrome fetal por valproato, tales como pliegues epicánticos, fisuras palpebrales inclinadas hacia arriba, nariz corta, micrognatia e hipoplasia malar, así como displasia ungueal e importantes anomalías que incluyen labio leporino y/o paladar hendido, defectos del tubo neural y anomalías cardíacas. La exposición <i>in utero</i> a carbamazepina en combinación con valproato, se ha asociado a un retraso significativo en el desarrollo (que afecta especialmente a la inteligencia verbal) y una elevada tasa de anomalías congénitas."},"it":{"name":"Sindrome fetale da carbamazepina","definition":"La sindrome fetale da carbamazepina è un'embrio/fetopatia correlata ad un farmaco; più specificamente è causata dall'esposizione dell'embrione/feto alla carbamazepina. E' caratterizzata da dismorfismi facciali (in parte simili a quelli osservati nell'embriopatia da acido valproico, come l'epicanto, le rime palpebrali oblique verso l'alto, il naso corto, la micrognatia e l'ipoplasia malare), displasia delle unghie e difetti caratteristici come la labioschisi/palatoschisi, i difetti del tubo neurale e le cardiopatie congenite. L'esposizione in utero alla cambamazepina, associata al valproato, può causare un grave ritardo dello sviluppo (in particolare dell'intelligenza verbale) e a un rischio elevato di difetti congeniti."},"nl":{"name":"Foetaal carbamazepinesyndroom","synonyms":["Syndroom bij foetus door carbamazepine"],"definition":"Foetaal carbamazepinesyndroom is een medicijn-gerelateerde embryofoetopathie die kan voorkomen wanneer een embryo/foetus wordt blootgesteld aan carbamazepine, en die gekarakteriseerd wordt door faciale dysmorfie, met enkele gelijkenissen met kenmerken die waargenomen worden bij foetaal valproaatsyndroom (zie deze term), zoals epicanthusplooien, opwaarts hellende ooglidspleten, korte neus, micrognathie en hypoplasie van de jukbeenderen, alsook nageldysplasie en grote anomalieën waaronder gespleten lip/verhemelte, neuralebuisdefecten en hartanomalieën. Blootstelling aan carbamazepine <i>in utero</i>, in combinatie met valproaat, wordt geassocieerd met significante ontwikkelingsachterstand (waarbij vooral de verbale intelligentie wordt getroffen) en een hoog aantal congenitale anomalieën."},"pt":{"name":"Síndrome da carbamazepina fetal"},"pl":{"name":"Zespół karbamazepinowy płodu"},"cs":{"name":"Fetální karbamazepinový syndrom"},"uk":{"name":"Фетальний карбамазепіновий синдром","definition":"Fetal carbamazepine syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. <i>In utero</i> exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies."},"zh":{"name":"胎儿卡马西平综合征","definition":"胎儿卡马西平综合征是一种药物相关性胚胎畸形症，可在胚胎/胎儿接触卡马西平时发生，其特征性面部畸形与胎儿丙戊酸盐综合征(见本术语)有一些相似之处，如内皮褶、睑裂上斜、短鼻、小下颌和颧骨发育不良。本病的特征还包括指甲发育不良和唇腭裂、神经管缺陷和心脏畸形在内的重大畸形，包括。宫内同时接触卡马西平与丙戊酸盐与显著的发育迟缓(特别是影响言语智力)和高先天畸形率有关。"},"tr":{"name":"Fetal karbamazepin 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":"attributed","validated":true},{"source":"MONDO","code":"0018263","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432370","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}