{"orpha":40366,"name":"Acitretin/etretinate embryopathy","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Fetal acitretin/etretinate syndrome","Retinoid embryopathy"],"definition":"A rare teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-40366/","orphanet_url":"https://www.orpha.net/en/disease/detail/40366","names":{"fr":{"name":"Embryopathie à l'acitrétine/étrétinate","synonyms":["Embryopathie aux rétinoïdes","Exposition anténatale à l'acitrétine ou l'étrétinate"],"definition":"L'embryopathie à l'acitrétine/étrétinate est une maladie tératogénique causée par une exposition à l'acitrétine ou à l'étrétinate au cours du premier trimestre de grossesse, comportant un risque de malformation foetale d'environ 20%, et incluant des anomalies du système nerveux central, des anomalies craniofaciales, auriculaires, thymiques, cardiaques et des membres."},"de":{"name":"Acitretin/Etretinat-Embryofetopathie","synonyms":["Fetales Acitretin/Etretinat-Syndrom"]},"es":{"name":"Embriofetopatía por acitretina/etretinato","synonyms":["Embriopatía retinoide","Síndrome de acitretina/etretinato fetal"],"definition":"Es un trastorno teratogénico poco frecuente, debido a la exposición a acitretina o etretinato durante el primer trimestre del embarazo, que conlleva un 20% de riesgo de malformaciones fetales, aproximadamente, incluyendo anomalías del sistema nervioso central, craneofaciales, del oído, tímicas, cardíacas y de las extremidades."},"it":{"name":"Embriopatia da acitretina/etretinato","synonyms":["Embriopatia da retinoidi","Sindrome fetale da acitretina/etretinato"]},"nl":{"name":"Acitretine/etretinaat-embryopathie","synonyms":["Foetaal acitretine/etretinaatsyndroom","Retinoïde-embryopathie"],"definition":"Een zeldzame, teratogene aandoening als gevolg van blootstelling aan acitretine of etretinaat tijdens het eerste trimester van de zwangerschap, die een risico met zich meebrengt van ongeveer 20% op foetale malformaties, onder meer van centraal zenuwstelsel, aangezicht en schedel, oor, thymus, hart en ledematen."},"pt":{"name":"Embriofetopatia por acitretina/etretinato","synonyms":["Embriopatia retinóide","Síndrome de acitretina/etretinato fetal"]},"pl":{"name":"Embriopatia acytretynowa/etretynatowa","synonyms":["Embriopatia retinoidowa","Płodowy zespół acytretynowy/etretynatowy"]},"cs":{"name":"Acitretinová/etretinátová embryopatie","synonyms":["Fetální acitretinový/etretinátový syndrom","Retinoidní embryopatie","Embryopatie způsobená kyselinou retinovou"]},"uk":{"name":"Ацитретинова/етретинова ембріопатія","synonyms":["Фетальний ацитретин/етретинатний синдром","Ретиноїдна ембріопатія"],"definition":"A rare teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies."},"zh":{"name":"阿维A酸/阿维A酯胚胎病","synonyms":["胎儿阿维A酸（酯）综合征"]},"tr":{"name":"Asitretin/etretinat embriyopati","synonyms":["Retinoid embriyopati","fetal asitretin/etretinat 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":"0018442","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510941","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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":26.0,"area":"Worldwide","status":"Validated","source":"18410980[PMID]"},{"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":"2017-08-23","source":"26402853[PMID]_15470719[PMID]_8838291[PMID]_8075435[PMID]","terms":[{"hpo":"HP:0011438","label":"Maternal teratogenic exposure","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000479","label":"Abnormal retinal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008364","label":"Abnormality of the calcaneus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009117","label":"Aplasia/Hypoplasia of the maxilla","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008058","label":"Aplasia/Hypoplasia of the optic nerve","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006695","label":"Atrioventricular canal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008619","label":"Bilateral sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001662","label":"Bradycardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001710","label":"Conotruncal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000378","label":"Cupped ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000778","label":"Hypoplasia of the thymus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005104","label":"Hypoplastic nasal septum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009099","label":"Median cleft palate","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:0008551","label":"Microtia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012759","label":"Neurodevelopmental abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009760","label":"Antecubital pterygium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006493","label":"Aplasia/hypoplasia involving bones of the lower limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006496","label":"Aplasia/hypoplasia involving bones of the upper limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001709","label":"Third degree atrioventricular block","frequency":"Occasional (29-5%)","criteria":null}]}}