{"orpha":2305,"name":"Isotretinoin syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Isotretinoin embryopathy","Retinoic acid embryopathy","Retinoids embryopathy"],"definition":"A rare tetrogenic embryofetopathy due to exposure to isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2305/","orphanet_url":"https://www.orpha.net/en/disease/detail/2305","names":{"fr":{"name":"Syndrome isotrétinoïne","synonyms":["Embryofoetopathie aux rétinoïdes","Embryofoetopathie à l'isotrétinoïne","Embryopathie à l'acide rétinoïque"],"definition":"Embryofoetopathie tétrogène rare due à l'exposition à l'isotrétinoïne, un dérivé synthétique de la vitamine A administré par voie orale, utilisé pour traiter l'acné kystique sévère et récalcitrante. L'exposition à l'isotrétinoïne pendant le premier trimestre de la grossesse a été associée à un risque accru de fausse couche et de malformations congénitales graves, notamment craniofaciales (microcéphalie, asymétrie du visage aux pleurs, microphtalmie, anomalies du développement de l'oreille externe, hypertélorisme oculaire), cardio-vasculaires (malformations cardiaques conotronculaires, anomalies de l'arc aortique) et du système nerveux central (hydrocéphalie, microcéphalie, lissencéphalie, malformation de Dandy-Walker, troubles cognitifs), ainsi que l'aplasie du thymus."},"de":{"name":"Isotretinoin-Syndrom","synonyms":["Isotretinoin-Embryofetopathie"],"definition":"Eine seltene tetrogene Embryofetopathie aufgrund der Exposition gegenüber Isotretinoin, einem oralen synthetischen Vitamin-A-Derivat, das zur Behandlung schwerer, therapieresistenter zystischer Akne eingesetzt wird. Die Exposition gegenüber Isotretinoin während des ersten Trimesters der Schwangerschaft wurde mit einem erhöhten Risiko für spontane Fehlgeburten und schwere Geburtsfehler in Verbindung gebracht, darunter schwerwiegende kraniofaziale (Mikrozephalie, asymmetrisches Schreigesicht, Mikrophthalmie, Entwicklungsstörungen des Außenohrs, Okularer Hypertelorismus), Herz-Kreislauf-Anomalien (konotrunkale Herzfehler, Aortenbogenanomalien) und Anomalien des Zentralnervensystems (Hydrozephalus, Mikrozephalie, Lissenzephalie, Dandy-Walker-Fehlbildung, kognitive Defizite) sowie Thymusaplasie."},"es":{"name":"Síndrome por isotretinoina","synonyms":["Embriopatía por isotretinoina","Embriopatía por retinoides","Embriopatía por ácido retinoico"],"definition":"Es una asociación de malformaciones causadas por el efecto teratogénico de la isotretinoína, un derivado sintético de la vitamina A de administración oral, que se utiliza para el tratamiento del acné quístico recalcitrante grave. La exposición a la isotretinoína durante el primer trimestre del embarazo se ha asociado a un mayor riesgo de abortos espontáneos y defectos congénitos graves, entre los que se incluyen anomalías craneofaciales (microcefalia, asimetría facial con el llanto, microftalmia, anomalías del desarrollo del oído externo, hipertelorismo ocular), cardio-vasculares (defectos conotruncales cardiacos, anomalías del arco aórtico) y del sistema nervioso central (hidrocefalia, microcefalia, lisencefalia, malformación de Dandy-Walker, déficit cognitivo) y aplasia tímica."},"it":{"name":"Sindrome da isotretinoina","synonyms":["Embriopatia da acido retinoico","Embriopatia da isotretinoina","Embriopatia da retinoidi"],"definition":"L'embriopatia da isotretinoina è caratterizzata dai difetti causati dalla teratogenicità dell'isotretinoina, un derivato sintetico orale della vitamina A, utilizzato per il trattamento dell'acne cistica grave refrattaria. L'esposizione all'isotretinoina durante il primo trimestre di gravidanza si associa a un aumento del rischio di aborto spontaneo e a importanti difetti alla nascita, che comprendono gravi anomalie craniofacciali (microcefalia, asimmetria del volto al momento del pianto, microftalmia, anomalie dello sviluppo dell'orecchio interno, ipertelorismo oculare), cardiovascolari (cardiopatie troncoconali, anomalie dell'arco aortico) e del sistema nervoso centrale (idrocefalo, microcefalia, lissencefalia, malformazione di Dandy-Walker, deficit cognitivo) e aplasia del timo. Il trattamento con isotretinoina è controindicato in gravidanza."},"nl":{"name":"Isotretinoïnesyndroom","synonyms":["Isotretinoïne-embryopathie","Retinoïde-embryopathie","Retinoïnezuur-embryopathie"],"definition":"Een zeldzame teratogene embryofoetopathie door blootstelling aan isotretinoïne, een oraal synthetisch derivaat van vitamine A dat gebruikt wordt om ernstige therapieresistente cystische acne te behandelen. Blootstelling aan isotretinoïne tijdens het eerste trimester van de zwangerschap is geassocieerd met een verhoogd risico op spontane abortus en ernstige geboortedefecten, waaronder ernstige craniofaciale anomalieën (microcefalie, asymmetrisch gelaat bij huilen, microftalmie, ontwikkelingsanomalieën van uitwendig oor, oculair hypertelorisme), cardiovasculaire anomalieën (conotruncale hartdefecten, afwijkingen van aortaboog), anomalieën van centraal zenuwstelsel (hydrocefalie, microcefalie, lissencefalie, Dandy-Walker malformatie, cognitieve functiestoornis), en aplasie van thymus."},"pt":{"name":"Síndrome isotretinoína","synonyms":["Embriopatia por isotretinoína","Embriopatia por retinóides"]},"pl":{"name":"Zespół izotretynoinowy","synonyms":["Embriopatia izotretynoinowa","Embriopatia kwasu retinoidowego","Embriopatia retinoidowa"],"definition":"Rzadka tetrogenna embriofetopatia spowodowana ekspozycją na izotretynoinę, doustną syntetyczną pochodną witaminy A, która jest stosowana w leczeniu ciężkiego, opornego trądziku torbielowatego. Narażenie na izotretynoinę w pierwszym trymestrze ciąży wiązało się ze zwiększonym ryzykiem samoistnych poronień i ciężkich wad wrodzonych, w tym poważnych wad twarzoczaszki (małogłowie, asymetryczna twarz z płaczliwym wyrazem, małoocze, nieprawidłowości rozwojowe ucha zewnętrznego, hiperteloryzm oczny), wad układu sercowo-naczyniowego (wady stożka i pnia tętniczego, nieprawidłowości łuku aorty) oraz ośrodkowego układu nerwowego (wodogłowie, małogłowie, bezmózgowie, malformacja Dandy'ego-Walkera, deficyty poznawcze) i aplazji grasicy."},"cs":{"name":"Izotretinoinový syndrom","synonyms":["Izotretinoinová embryopatie","Embryopatie z kyseliny retinové","Retinoidní embryopatie"]},"uk":{"name":"Ізотретиноїновий синдром","synonyms":["Ізотретиноїдна ембріопатія","Ембріопатія ретиноєвої кислоти","Ретиноїдна ембріопатія"],"definition":"A rare tetrogenic embryofetopathy due to exposure to isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia."},"zh":{"name":"异维甲酸综合征","synonyms":["维甲酸胚胎病"]},"tr":{"name":"İzotretinoin sendromu","synonyms":["Retinoid embriyopatisi","İzotretinoin embriyopatisi","Retinoik asit embriyopatisi"]}},"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":"409507920"},{"source":"MONDO","code":"0016467","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535670","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2930972","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","Infancy","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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Occasional (29-5%)","criteria":null}]}}