{"orpha":1915,"name":"Fetal alcohol syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ARND","Alcohol-related birth defects","Alcohol-related neurodevelopmental disorder","FAS","FASD","Fetal alcohol spectrum disorders","ARBD"],"definition":"Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1915/","orphanet_url":"https://www.orpha.net/en/disease/detail/1915","names":{"fr":{"name":"Syndrome d'alcoolisation foetale","synonyms":["ACLA","Anomalies congénitales multiples liées à l'alcool","EAF","ETCAF","Effets de l'alcool sur le foetus","Effets de l'alcoolisation foetale","Embryofoetopathie alcoolique","Embryopathie alcoolique","Ensemble des troubles causés par l'alcoolisation foetale","Exposition anténatale à l'alcool","Foetopathie alcoolique","SAF","Syndrome d'alcoolisme foetal","Syndrome de Lemoine","TNDLA","TSAF","Trouble neurologique du développement lié à l'alcool","Troubles du spectre de l'alcoolisation foetale"],"definition":"Malformation syndromique rare causée par une consommation excessive d'alcool par la mère pendant la grossesse. Elle se caractérise par un retard de croissance prénatal et/ou postnatal (poids et/ou taille <10e percentile), la présence d'un ensemble caractéristique d'anomalies faciales mineures (fentes palpébrales courtes, philtrum plat et lisse, et lèvre supérieure mince), et par des anomalies graves du système nerveux central (SNC), dont la microcéphalie, ainsi que des troubles cognitifs et comportementaux (déficience intellectuelle, déficit cognitif général, troubles de l'apprentissage et du langage, des fonctions exécutives, du traitement visuo-spatial, de la mémoire et de l'attention)."},"de":{"name":"Fetales Alkoholsyndrom","synonyms":["Alkoholembryopathie","FASD"],"definition":"Das fetale Alkoholsyndrom (FAS) ist ein seltenes Fehlbildungssyndrom, das durch übermäßigen mütterlichen Alkoholkonsum während der Schwangerschaft verursacht wird. Es ist gekennzeichnet durch pränatale und/oder postnatale Wachstumsdefizite (Gewicht und/oder Größe <10. Perzentile), ein besonderes Spektrum leichterer Gesichtsanomalien (kurze Lidspalten, flaches und glattes Philtrum und dünne Oberlippe) und schwere Anomalien des zentralen Nervensystems (ZNS) einschließlich Mikrozephalie sowie kognitive und Verhaltensstörungen (Intelligenzminderung, Defizite bei der allgemeinen Kognition, beim Lernen und bei der Sprache, bei der Exekutivfunktion, der visuell-räumlichen Verarbeitung, beim Gedächtnis und bei der Aufmerksamkeit)."},"es":{"name":"Síndrome alcohólico fetal","synonyms":["Exposición prenatal al alcohol","Síndrome de embriopatía alcohólica"],"definition":"El síndrome alcohólico fetal (SAF) es un síndrome malformativo poco frecuente causado por el consumo materno excesivo de alcohol durante el embarazo. Se caracteriza por deficiencia de crecimiento prenatal y/o posnatal (peso y/o talla < percentil 10), un grupo único de anomalías faciales menores (fisuras palpebrales cortas, filtrum plano y liso y labio superior delgado) y anomalias graves del sistema nervioso central ( SNC) que incluyen microcefalia y afectación cognitiva y conductual (discapacidad intelectual, déficit cognitivo general, aprendizaje y lenguaje, función ejecutiva, procesamiento visoespacial, memoria y atención)."},"it":{"name":"Embriopatia alcolica","synonyms":["Sindrome feto-alcolica"]},"nl":{"name":"Foetaal alcoholsyndroom","synonyms":["ARBD","ARND","Alcohol-gerelateerde geboortedefecten","Alcohol-gerelateerde neurologische ontwikkelingsstoornis","FAS","FASD","Foetaal alcohol spectrumstoornissen"],"definition":"Foetaal alcoholsyndroom (FAS) is een zeldzaam malformatiesyndroom dat veroorzaakt wordt door overmatige alcoholconsumptie van de moeder tijdens de zwangerschap. Het wordt gekenmerkt door prenatale en/of postnatale groeistoornissen (gewicht en/of lengte <10e percentiel), een uniek cluster van mineure gelaatsanomalieën (korte oogspleten, plat en glad filtrum en dunne bovenlip) en ernstige afwijkingen van het centrale zenuwstelsel (CNS), inclusief microcefalie en cognitieve beperking en gedragsbeperking (verstandelijke beperking, tekorten in algemene cognitie, leren en taal, uitvoerende functie, visueel-ruimtelijke verwerking, geheugen en aandacht)."},"pt":{"name":"Síndrome alcoólico fetal","synonyms":["Embriofetopatia alcoólica","SAF"]},"pl":{"name":"Alkoholowy zespół płodu","synonyms":["Alkoholowa infekcja płodowa"]},"cs":{"name":"Fetální alkoholový syndrom","synonyms":["ARBD","ARND","Spektrum vrozených alkoholových poruch","Neurovývojová porucha související s alkoholem","FAS","FASD","Spektrum fetálních alkoholových poruch"]},"uk":{"name":"Фетальний алкогольний синдром","synonyms":["Вроджені вади розвитку, повязані з алкоголем","Повязане з алкоголем порушення нейророзвитку","ARBD","АРНД","ФАС","FASD","Фетальний алкогольний синдром"],"definition":"Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention)."},"zh":{"name":"胎儿酒精综合征","synonyms":["酒精相关性神经发育障碍"]},"tr":{"name":"Fetal alkol sendromu","synonyms":["FAS","ARBD","ARND","FASD","Alkol-ilişkili doğum defektleri","fetal alkol spektrum bozuklukları","Alkol-ilişkili nörogelişimsel bozukluk"]}},"xrefs":[{"source":"ICD-10","code":"Q86.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD2F.00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"362980699"},{"source":"MONDO","code":"0016011","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D063647","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0015923","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10016845","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":138059,"name":"Teratogenic Pierre Robin syndrome","classifications":[147,200,209]},{"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":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.6,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.8,"area":"Austria","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2008[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.8,"area":"Belgium","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":14.8,"area":"Germany","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"Hungary","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":8.1,"area":"Ireland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.4,"area":"Italy","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2006[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.6,"area":"Norway","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":13.2,"area":"Switzerland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2007[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.9,"area":"United Kingdom","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":">1 / 1000","value":6800.0,"area":"South Africa","status":"Validated","source":"17127017[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":13.6,"area":"France","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Poland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.2,"area":"Spain","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":80.8,"area":"Ukraine","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"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:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","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:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100761","label":"Visceral angiomatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Occasional (29-5%)","criteria":null}]}}