{"orpha":1906,"name":"Fetal valproate spectrum disorder","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Fetal valproate syndrome","Fetal valproic acid syndrome","Valproic acid embryopathy"],"definition":"A rare teratogenic disease due to embryo/fetal exposure to valproic acid (VPA) and subsequently characterized by a distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1906/","orphanet_url":"https://www.orpha.net/en/disease/detail/1906","names":{"fr":{"name":"Embryofoetopathie au valproate","synonyms":["Embryofoetopathie à l'acide valproïque","Embryopathie au valproate","Embryopathie à l'acide valproïque","Exposition anténatale au valproate","Exposition anténatale à l'acide valproïque"],"definition":"Maladie tératogène rare due à l'exposition embryonnaire/foetale à l'acide valproïque (VPA) et caractérisée ensuite par une dysmorphie faciale distincte, des anomalies congénitales et un retard de développement (affectant essentiellement le langage et la communication)."},"de":{"name":"Fetale Valproat-Spektrumstörung","synonyms":["Fetales Valproinsäure-Syndrom","Valproat-Embryopathie"],"definition":"Eine seltene teratogene Erkrankung, die auf die Exposition des Embryos/Fötus gegenüber Valproinsäure (VPS) zurückzuführen ist und in der Folge durch einen ausgeprägten Gesichtsdysmorphismus, kongenitale Anomalien und Entwicklungsverzögerungen (insbesondere in Sprache und Kommunikation) gekennzeichnet ist."},"es":{"name":"Trastorno del espectro del síndrome fetal por valproato","synonyms":["Embriopatía por ácido valproico","Síndrome del ácido valproico fetal","Síndrome fetal por valproato"],"definition":"Es una enfermedad teratogénica rara debida a la exposición embrionaria/fetal al ácido valproico (AVP) y posteriormente caracterizada por rasgos faciales dismórficos característicos, anomalías congénitas y retraso del desarrollo (especialmente del lenguaje y la comunicación)."},"it":{"name":"Embriopatia da acido valproico","synonyms":["Esposizione prenatale all'acido valproico"],"definition":"L'embriopatia da acido valproico (FVS) è una malattia teratogenica rara causata dall'esposizione dell'embrione/feto all'acido valproico (VPA). È caratterizzata da dismorfismi facciali caratteristici, anomalie congenite e ritardo dello sviluppo (in particolare del linguaggio e della comunicazione)."},"nl":{"name":"Foetaal valproaat-spectrumstoornis","synonyms":["Foetaal valproaat-syndroom","Foetaal valproïnezuur-syndroom","Valproïnezuur-embryopathie"],"definition":"Een zeldzame teratogene aandoening als gevolg van embryonale/foetale blootstelling aan valproïnezuur (VPZ), gekarakteriseerd door typische faciale dysmorfie, congenitale anomalieën en ontwikkelingsachterstand (vooral voor taal en communicatie)."},"pt":{"name":"Espectro clínico do valproato fetal","synonyms":["Embriofetopatia por valproato"]},"pl":{"name":"Płodowy zespół walproinianowy","synonyms":["Płodowy zespół kwasu walproinowego"]},"cs":{"name":"Fetální valproátový syndrom","synonyms":["Fetální syndrom indukovaný kyselinou valproovou"]},"uk":{"name":"Спектр вальпроатової хвороби плоду","synonyms":["Фетальний вальпроатний синдром","Синдром вальпроєвої кислоти плода","Ембріопатія вальпроєвої кислоти"],"definition":"A rare teratogenic disease due to embryo/fetal exposure to valproic acid (VPA) and subsequently characterized by a distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication)."},"zh":{"name":"胎儿丙戊酸盐综合征","synonyms":["胎儿丙戊酸综合征"]},"tr":{"name":"Fetal valproat sendromu","synonyms":["Valproik asit embriyopatisi","fetal valproik asit sendromu"]}},"xrefs":[{"source":"OMIM","code":"609442","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q86.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.03","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1055155432"},{"source":"MONDO","code":"0012275","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536525","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0236026","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5447","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10016524","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":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]},{"orpha":138059,"name":"Teratogenic Pierre Robin syndrome","classifications":[147,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_Dr Asher Ornoy[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.3,"area":"Switzerland","status":"Validated","source":"29753923[PMID]_EUROCAT European surveillance of congenital anomalies 2005-2014[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.2,"area":"Germany","status":"Validated","source":"29753923[PMID]_EUROCAT European surveillance of congenital anomalies 2005-2014[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.3,"area":"Ireland","status":"Validated","source":"29753923[PMID]_EUROCAT European surveillance of congenital anomalies 2005-2014[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.02,"area":"Europe","status":"Validated","source":"29753923[PMID]_EUROCAT European surveillance of congenital anomalies 2005-2014[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.7,"area":"Reunion","status":"Validated","source":"29753923[PMID]_EUROCAT European surveillance of congenital anomalies 2005-2014[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Belgium","status":"Validated","source":"29753923[PMID]_EUROCAT European surveillance of congenital anomalies 2005-2014[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"Netherlands","status":"Validated","source":"29753923[PMID]_EUROCAT European surveillance of congenital anomalies 2005-2014[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null}]}}