{"orpha":1914,"name":"Vitamin K antagonist embryofetopathy","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Vitamin K antagonist embryopathy","Warfarin embryofetopathy","Warfarin embryopathy","di Sala syndrome"],"definition":"Vitamin K antagonist embryofetopathy is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken oral vitamin K antagonists, such as warfarin during pregnancy. Vitamin K antagonists are anticoagulant drugs that provide efficient thromboprophylaxis and that can cross the placenta. 5-12 % of infants exposed to warfarin between 6-9 weeks gestation present nasal hypoplasia and skeletal abnormalities, including short limbs and digits (brachydactyly), and stippled epiphyses. Warfarin fetopathy with central nervous system abnormalities (hydrocephalus, intellectual disability, spasticity, and hypotonia) or ocular abnormalities (microphthalmia, cataract, optic atrophy), fetal loss, and stillbirth, occurs in infants exposed at later gestations. Additional features that have been reported after in utero warfarin exposure include facial dysmorphism (cleft lip and/or palate, malformed ears), choanal atresia or stenosis, aorta coarctation, situs inversus totalis, bilobed lungs, and ventral midline dysplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1914/","orphanet_url":"https://www.orpha.net/en/disease/detail/1914","names":{"fr":{"name":"Embryofoetopathie aux anti-vitamine K","synonyms":["Embryofoetopathie à la warfarine","Syndrome foetal de la warfarine"],"definition":"Un groupe de symptômes pouvant s'observer chez un foetus ou un nouveau-né, lorsque la mère a utilisé des antagonistes de la vitamine K comme la warfarine par voie orale, pendant sa grossesse. Les antagonistes de la vitamine K sont des agents anticoagulants permettant une thromboprophylaxie efficace et peuvent traverser la barrière du placenta. 5-12% des nouveau-nés exposés à la warfarine entre 6-9 semaines de grossesse présentent une hypoplasie nasale et des anomalies squelettiques, incluant des membres et des doigts courts (brachydactylie), ainsi que des épiphyses ponctuées. Une exposition tardive au cours de la grossesse induit une foetopathie à la warfarine, avec des anomalies du système nerveux central (hydrocéphalie, déficit intellectuel, spasticité, hypotonie) ou oculaires (microphtalmie, cataracte, atrophie optique), une perte foetale et un foetus mort-né. Les signes additionnels rapportés après une exposition à la warfarine <i>in utero</i> incluent une dysmorphie faciale (fente labiale et/ou palatine, oreilles malformées), une atrésie ou une sténose choanale, une coarctation de l'aorte, un situs inversus totalis, des poumons bilobés et une dysplasie de la ligne médiane ventrale."},"de":{"name":"Vitamin K-Antagonisten-Embryopathie","synonyms":["Embryofetopathie durch Vitamin K-Antagonisten","Fetales Warfarinsyndrom","Warfarin-Embryofetopathie","Warfarin-Embryopathie","Di Sala-Syndrom"],"definition":"Die Vitamin-K-Antagonisten-Embryofetopathie ist durch eine Gruppe von Symptomen gekennzeichnet, die bei einem Fötus oder Neugeborenen beobachtet werden können, wenn die Mutter während der Schwangerschaft orale Vitamin-K-Antagonisten, wie z. B. Warfarin, eingenommen hat. Vitamin-K-Antagonisten sind gerinnungshemmende Medikamente, die eine effiziente Thromboseprophylaxe bieten und die Plazenta passieren können. 5-12 % der Säuglinge, die zwischen 6-9 Schwangerschaftswochen Warfarin ausgesetzt waren, weisen eine Nasenhypoplasie und Skelettanomalien auf, einschließlich kurzer Gliedmaßen und Finger/Zehen (Brachydaktylie) sowie gestielte Epiphysen. Warfarin-Fetopathie mit Anomalien des Zentralnervensystems (Hydrozephalus, Intelligenzminderung, Spastik und Hypotonie) oder Augenanomalien (Mikrophthalmie, Katarakt, Optikusatrophie), fetalem Verlust und Totgeburt tritt bei Säuglingen auf, die in späteren Schwangerschaftsstadien exponiert wurden. Zu den zusätzlichen Merkmalen, die nach einer <i>in utero</i> Warfarin-Exposition berichtet wurden, gehören Gesichtsdysmorphien (Lippen- und/oder Gaumenspalte, fehlgebildete Ohren), Choanalatresie oder -stenose, Aorten-Koarktation, Situs inversus totalis, bilobäre Lungen und ventrale Mittellinien-Dysplasie."},"es":{"name":"Embriofetopatía por antagonistas de la vitamina K","synonyms":["Embriofetopatía por warfarina","Embriopatía por antagonistas de la vitamina K","Embriopatía por warfarina","Síndrome de di Sala"],"definition":"La embriofetopatía por antagonistas de la vitamina K se caracteriza por un grupo de síntomas que se pueden observar en un feto o un recién nacido cuando la madre ha tomado, durante el embarazo, antagonistas orales de la vitamina K, tales como warfarina. Los antagonistas de la vitamina K son medicamentos anticoagulantes que proporcionan una tromboprofilaxis eficaz y que pueden atravesar la placenta. El 5-12% de los fetos expuestos a warfarina entre las semanas 6 y 9 de gestación presentan posteriormente hipoplasia nasal y anomalías esqueléticas, que incluyen extremidades y dedos cortos (braquidactilia) y calcificaciones punteadas de las epífisis. La fetopatía por warfarina con anomalías del sistema nervioso central (hidrocefalia, discapacidad intelectual, espasticidad e hipotonía) o anomalías oculares (microftalmia, cataratas, atrofia óptica), pérdida fetal y muerte fetal, se produce en bebés expuestos en periodos de la gestacion posteriores a la 9 semana. Además, se han notificado características adicionales resultantes de la exposición inytrautero a warfarina, que incluyen dismorfia facial (labio leporino y/o paladar hendido, orejas malformadas), atresia o estenosis coanal, coartación de la aorta, situs inversus totalis, pulmones bilobulados y displasia ventral de la línea media."},"it":{"name":"Embrio/fetopatia da antagonisti della vitamina K","synonyms":["Embriofetopatia da antagonisti della vitamina K","Embriopatia da cumarina","Sindrome fetale da warfarin"],"definition":"L'embrio/fetopatia da antagonisti della vitamina K comprende un gruppo di segni clinici presenti in un feto o in un neonato la cui madre ha assunto antagonisti della vitamina K per via orale (come il warfarin) durante la gravidanza. Gli antagonisti della vitamina K sono farmaci anticoagulanti che garantiscono un'efficace tromboprofilassi e possono attraversare la placenta. Il 5-12% dei neonati esposti a warfarin tra la sesta e nona settimana di gestazione presentano ipoplasia del naso e anomalie scheletriche, come l'accorciamento degli arti e delle dita (brachidattilia) ed epifisi punteggiate. La fetopatia da warfarin, associata ad anomalie del sistema nervoso centrale (idrocefalo, disabilità intellettiva, spasticità e ipotonia) o ad anomalie oculari (microftalmia, cataratta, atrofia ottica), morte del feto o natimortalità, si manifesta nei neonati esposti al warfarin nelle fasi più tardive della gravidanza. Altri segni clinici secondari all'esposizione prenatale al farmaco sono i dismorfismi facciali (labioschisi e/o palatoschisi, malformazioni delle orecchie), l'atresia o la stenosi delle coane, la coartazione dell'aorta, il situs inversus totalis, i polmoni bilobati e la displasia della linea mediana ventrale."},"nl":{"name":"Vitamine K-antagonisten-embryofoetopathie","synonyms":["Warfarine-embryopathie","Syndroom van di Sala","Vitamine K-antagonisten-embryofoetopathie","Vitamine K-antagonisten-embryopathie","Warfarine-embryofoetopathie"],"definition":"Vitamine K-antagonisten-embryofoetopathie wordt gekarakteriseerd door een groep symptomen die kunnen waargenomen worden bij een foetus of neonaat wanneer de moeder orale vitamine K-antagonisten, zoals warfarine, innam tijdens de zwangerschap. Vitamine K-antagonisten zijn anticoagulantia die efficiënte tromboprofylaxe bieden en die door de placenta kunnen passeren. 5-12% van de zuigelingen die tussen week 6-9 van de zwangerschap worden blootgesteld aan warfarine vertonen nasale hypoplasie en afwijkingen van het skelet, zoals korte ledematen en vingers/tenen (brachydactylie), en gestippelde epifysen. Warfarine-foetopathie met afwijkingen van het centrale zenuwstelsel (hydrocefalie, intellectuele achterstand, spasticiteit, en hypotonie) of oculaire afwijkingen (microftalmie, cataract, opticusatrofie), verlies van de foetus, en doodgeboorte, komt voor bij zuigelingen die later in de zwangerschap worden blootgesteld. Bijkomende kenmerken die werden gerapporteerd na blootstelling aan warfarine in utero zijn onder meer faciale dysmorfie (gespleten lip en/of verhemelte, misvormde oren), choane atresie of stenose, coarctatie van de aorta, situs inversus totalis, tweelobbige longen, en dysplasie van de ventrale middenlijn."},"pt":{"name":"Embriofetopatia por antagonistas da vitamina K","synonyms":["Embriofetopatia por varfarina","Embriopatia por antagonistas da vitamina K","Embriopatia por varfarina","Síndrome di Sala"]},"pl":{"name":"Embriofetopatia antagonistów witaminy K","synonyms":["Zespół di Sala","Embriopatia warfarynowa","Embriofetopatia warfarynowa","Embriopatia antagonistów witaminy K"]},"cs":{"name":"Embryofetopatie způsobená terapií orálními antikoagulancii","synonyms":["Kumarinová embryopatie","Fetální warfarinový syndrom","Embryofetopatie způsobená antagonisty vitaminu K"]},"uk":{"name":"Ембріофетопатія антагоністів вітаміну К","synonyms":["Синдром ді Сала","Ембріопатія антагоністів вітаміну К","Варфаринова ембріофетопатія","Варфаринова ембріопатія"],"definition":"Vitamin K antagonist embryofetopathy is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken oral vitamin K antagonists, such as warfarin during pregnancy. Vitamin K antagonists are anticoagulant drugs that provide efficient thromboprophylaxis and that can cross the placenta. 5-12 % of infants exposed to warfarin between 6-9 weeks gestation present nasal hypoplasia and skeletal abnormalities, including short limbs and digits (brachydactyly), and stippled epiphyses. Warfarin fetopathy with central nervous system abnormalities (hydrocephalus, intellectual disability, spasticity, and hypotonia) or ocular abnormalities (microphthalmia, cataract, optic atrophy), fetal loss, and stillbirth, occurs in infants exposed at later gestations. Additional features that have been reported after in utero warfarin exposure include facial dysmorphism (cleft lip and/or palate, malformed ears), choanal atresia or stenosis, aorta coarctation, situs inversus totalis, bilobed lungs, and ventral midline dysplasia."},"zh":{"name":"维生素K拮抗剂胎儿胚胎病","synonyms":["维生素K拮抗剂胚胎病"]},"tr":{"name":"K vitamini antagonisti embriyofetopatisi","synonyms":["di Sala sendromu","Warfarin embriyopatisi","Warfarin embriyofetopati","K vitamini antagonisti embriyopatisi"]}},"xrefs":[{"source":"ICD-10","code":"Q86.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.02","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1368779017"},{"source":"MONDO","code":"0016010","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536683","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265374","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8580","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10051445","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":"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:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010655","label":"Epiphyseal stippling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008420","label":"Punctate vertebral calcifications","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008056","label":"Aplasia/Hypoplasia affecting the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002475","label":"Myelomeningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}