{"orpha":1919,"name":"Phenobarbital embryopathy","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A teratologic disorder associated with intrauterine exposure of phenobarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1919/","orphanet_url":"https://www.orpha.net/en/disease/detail/1919","names":{"fr":{"name":"Embryopathie au phénobarbital","synonyms":["Exposition anténatale au phénobarbital"],"definition":"L'embryopathie au phénobarbital est un syndrome malformatif tératogène dû à une exposition intra-utérine au phénobarbital au cours du premier trimestre de grossesse. Les nourrissons sont généralement asymptomatiques, mais dans de rares cas, il a été rapporté un risque accru de déficience intellectuelle, une tétralogie de Fallot, une fente labiale unilatérale , une hypoplasie de la valve mitrale et d'autres anomalies légères (telles qu'un hypertélorisme, un épicanthus, un nez hypoplasique et bas implanté, des oreilles basses implantées, un prognathisme, une hypoplasie des doigts, une brachydactylie et un hypospadias)."},"de":{"name":"Phenobarbital-Embryopathie","synonyms":["Antiepileptika-Embryofetopathie","Phenobarbital-Exposition, vorgeburtliche"]},"es":{"name":"Embriopatía por fenobarbital","synonyms":["Exposición fetal a fenobarbital"],"definition":"Es un trastorno teratológico asociado a una exposición intrauterina al fenobarbital durante el primer trimestre del embarazo. Los lactantes suelen permanecer asintomáticos, pero se ha descrito ocasionalmente un mayor riesgo de discapacidad intelectual así como la presencia de tetralogía de Fallot, labio leporino unilateral, hipoplasia de la válvula mitral, y de otras anomalías leves tales como hipertelorismo, epicanto, nariz hipoplásica y de implantación baja, orejas de implantación baja, prognatismo, hipoplasia de los dedos de las manos, braquidactilia e hipospadias."},"it":{"name":"Embriopatia da fenobarbital","synonyms":["Esposizione prenatale al fenobarbital"]},"nl":{"name":"Fenobarbital-embryopathie","synonyms":["Prenatale blootstelling aan fenobarbital"],"definition":"Een teratologische stoornis geassocieerd met intra-uteriene blootstelling aan fenobarbital tijdens het eerste trimester van de zwangerschap. Zuigelingen zijn doorgaans asymptomatisch maar een verhoogd risico op intellectuele achterstand, tetralogie van Fallot, unilateraal gespleten lip, hypoplasie van mitralisklep en enkele andere milde afwijkingen zoals hypertelorisme, epicanthus, hypoplasie en lage inplanting van de neus, lage inplanting van de oren, prognathie, hypoplasie van vinger, brachydactylie en hypospadieën werden in zeldzame gevallen gerapporteerd."},"pt":{"name":"Embriofetopatia por fenobarbital","synonyms":["Síndrome fenobarbital fetal"]},"pl":{"name":"Embriopatia fenobarbitolowa","synonyms":["Prenatalne zatrucie fenobarbitalem"]},"cs":{"name":"Fenobarbitalová embryopatie"},"uk":{"name":"Фенобарбіталова ембріопатія","definition":"A teratologic disorder associated with intrauterine exposure of phenobarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases."},"zh":{"name":"苯巴比妥胚胎病"},"tr":{"name":"Fenobarbital embriyopati"}},"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":"1602901948"},{"source":"MONDO","code":"0016015","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4275281","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4315","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":"2019-06-17","source":"11297704[PMID]_7474220[PMID]_4886955[PMID]_2107397[PMID]","terms":[{"hpo":"HP:0012808","label":"Abnormal nasal base","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008386","label":"Aplasia/Hypoplasia of the nails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100333","label":"Unilateral cleft lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001633","label":"Abnormal mitral valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006265","label":"Aplasia/Hypoplasia of fingers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null}]}}