{"orpha":398097,"name":"Neonatal antiphospholipid syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Neonatal Hughes syndrome","Neonatal antiphospholipid antibody syndrome"],"definition":"Neonatal antiphospholipid syndrome is a rare, secondary, neonatal autoimmune disease characterized by single or recurrent episodes of venous, arterial or mixed thrombosis in a neonate whose mother does not have antiphospholipid syndrome manifestations. Patients present positive antiphospholipid antibodies and may have additional abnormalities associated (e.g. cardiac valve disease, livedo reticularis, thrombocytopenia, nephropathy, neurological manifestations).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-398097/","orphanet_url":"https://www.orpha.net/en/disease/detail/398097","names":{"fr":{"name":"Syndrome des antiphospholipides néonatal","synonyms":["APS néonatal","Neonatal APS","SAPL néonatal","Syndrome de Hughes néonatal","Syndrome des anticorps antiphospholipides néonatal"],"definition":"Maladie auto-immune néonatale secondaire rare caractérisée par des épisodes isolés ou récurrents de thrombose veineuse, artérielle ou mixte chez un nouveau-né dont la mère ne présente pas de manifestations du syndrome des antiphospholipides. Les patients présentent des anticorps antiphospholipides positifs et peuvent présenter d'autres anomalies associées (par exemple, valvulopathie cardiaque, livedo reticularis, thrombocytopénie, néphropathie, manifestations neurologiques)."},"de":{"name":"Anti-Phospholipid-Syndrom, neonatales","synonyms":["Anti-Phospholipid-Antikörper-Syndrom, neonatales","Hughes-Syndrom, neonatales","Neonatales APS"]},"es":{"name":"Síndrome antifosfolipídico neonatal","synonyms":["APS neonatal","SAF neonatal","Síndrome de Hughes neonatal","Síndrome neonatal por anticuerpos antifosfolípido"],"definition":"El síndrome antifosfolípido neonatal es una enfermedad autoinmune neonatal secundaria y poco frecuente caracterizada por episodios únicos o recurrentes de trombosis venosa, arterial o mixta, en neonatos cuya madre no presenta manifestaciones del síndrome antifosfolípido. Los afectados presentan positividad de anticuerpos antifosfolípidos y pueden tener asociadas anomalías adicionales (p. ej., enfermedad de la válvula cardíaca, livedo reticularis, trombocitopenia, nefropatía, manifestaciones neurológicas)."},"it":{"name":"Sindrome neonatale da antifosfolipidi","synonyms":["APS neonatale","Sindrome di Hughes neonatale","Sindrome neonatale da anticorpi antifosfolipidi"],"definition":"La sindrome neonatale da antifosfolipidi è una malattia autoimmune neonatale secondaria rara, caratterizzata da uno o più episodi ricorrenti di trombosi venosa, arteriosa o mista nei neonati la cui madre non presenta i sintomi della sindrome da antifosfolipidi. I pazienti sono positivi agli anticorpi antifosfolipidi e possono presentare altre anomalie (malattia della valvola cardiaca, livedo reticolare, trombocitopenia, nefropatia e sintomi neurologici)."},"nl":{"name":"Neonataal antifosfolipidensyndroom","synonyms":["Neonataal APS","Neonataal antifosfolipide-antilichaamsyndroom","Neonataal syndroom van Hughes"],"definition":"Neonataal antifosfolipidensyndroom is een zeldzame, secundaire, neonatale auto-immuunziekte die gekarakteriseerd wordt door één of recurrente episode(s) van veneuze, arteriële of gemengde trombose in een neonaat wiens moeder geen manifestaties van antifosfolipidensyndroom vertoont. Patiënten presenteren zich met positieve antifosfolipide-antilichamen en hebben mogelijk bijkomende geassocieerde afwijkingen (e.g. hartklepaandoening, livedo reticularis, trombocytopenie, nefropathie, neurologische manifestaties)."},"pt":{"name":"Síndrome antifosfolipídico neonatal"},"pl":{"name":"Zespół antyfosfolipidowy noworodków","synonyms":["APS noworodkowa","Zespół Hughesa noworodków","Zespół przeciwciał antyfosfolipidowych noworodków"],"definition":"*Zespół antyfosfolipidowy noworodków jest rzadką, wtórną, noworodkową chorobą autoimmunologiczną, która charakteryzuje się pojedynczymi lub nawracającymi epizodami zakrzepicy żylnej, tętniczej lub mieszanej u noworodka, którego matka nie ma objawów zespołu antyfosfolipidowego. U pacjentów obecne są przeciwciała antyfosfolipidowe. Ponadto mogą wystąpić dodatkowe nieprawidłowości (np. choroba zastawek serca, siność siatkowata, trombocytopenia, nefropatia, objawy neurologiczne)."},"cs":{"name":"Neonatální antifosfolipidový syndrom","synonyms":["Neonatální antifosfolipidový protilátkový syndrom","Neonatální Hughesův syndrom"]},"uk":{"name":"Неонатальний антифосфоліпідний синдром","synonyms":["Синдром неонатальних антифосфоліпідних антитіл","Неонатальний синдром Хьюза"],"definition":"Neonatal antiphospholipid syndrome is a rare, secondary, neonatal autoimmune disease characterized by single or recurrent episodes of venous, arterial or mixed thrombosis in a neonate whose mother does not have antiphospholipid syndrome manifestations. Patients present positive antiphospholipid antibodies and may have additional abnormalities associated (e.g. cardiac valve disease, livedo reticularis, thrombocytopenia, nephropathy, neurological manifestations)."},"zh":{"name":"新生儿抗磷脂综合征","synonyms":["新生儿抗磷脂抗体综合征"],"definition":"新生儿抗磷脂综合征是一种罕见的继发性新生儿自身免疫性疾病，其特征是母亲没有抗磷脂综合征表现的新生儿单次或反复发作静脉、动脉或混合血栓。患儿的抗磷脂抗体呈阳性，并可能伴有其他相关异常(例如心脏瓣膜疾病、网状肝纤维化、血小板减少症、肾病、神经系统表现)。"},"tr":{"name":"Yenidoğan antifosfolipid sendromu","synonyms":["Yenidoğan Hughes sendromu","Yenidoğan antifosfolipid antikor sendromu"]}},"xrefs":[{"source":"ICD-10","code":"D68.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A45.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018357","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751518","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":398091,"name":"Secondary neonatal autoimmune disease","classifications":[196,231]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":34.0,"area":"Worldwide","status":"Validated","source":"24830792[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24830792[PMID]"}],"phenotypes":null}