{"orpha":86915,"name":"Lymphedema-atrial septal defects-facial changes syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Irons-Bhan syndrome","Irons-Bianchi syndrome"],"definition":"Lymphedema-atrial septal defects-facial changes syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86915/","orphanet_url":"https://www.orpha.net/en/disease/detail/86915","names":{"fr":{"name":"Syndrome de lymphoedème-communication interauriculaire-dysmorphie","synonyms":["Syndrome d'Irons-Bhan","Syndrome d'Irons-Bianchi"],"definition":"Syndrome de lymphoedème-communication interauriculaire-dysmorphie est caractérisé par un lymphoedème congénital des membres inférieurs, une communication inter-auriculaire, et des traits caractéristiques (visage rond avec front proéminent, racine du nez plate avec pointe nasale large, épicanthus, lèvre supérieure fine et fossette au menton). Il a été décrit chez deux frères et leur soeur. Le mode de transmission semble autosomique récessif."},"de":{"name":"Lymphödem-Atriumseptumdefekte-charakteristische Gesichtszüge-Syndrom","synonyms":["Irons-Bhan-Syndrom","Irons-Bianchi-Syndrom"],"definition":"Dieses Syndrom ist gekennzeichnet durch kongenitales Lymphödem der unteren Gliedmaßen, Vorhofseptumdefekt und eine charakteristische Fazies (rundes Gesicht, prominente Stirn, flacher Nasenrücken, breite Nasenspitze, Epikanthus, dünne Oberlippe, gespaltenes Kinn). Es wurde bei 3 Geschwistern (2 m., 1 w.) beschrieben und scheint autosomal-rezessiv vererbt zu werden."},"es":{"name":"Síndrome de linfedema-comunicación interauricular-cambios faciales","synonyms":["Síndrome de Irons-Bhan","Síndrome de Irons-Bianchi"],"definition":"Es un síndrome caracterizado por linfedema congénito de los miembros inferiores, comunicación interauricular y una facies característica (cara redondeada con frente prominente, puente nasal plano con punta nasal ancha, pliegues epicánticos, labio superior delgado y mentón hendido). Se ha descrito en dos hermanos y una hermana. La transmisión parece ser autosómica recesiva."},"it":{"name":"Linfedema - difetti del setto atriale - alterazioni facciali","synonyms":["Sindrome di Irons-Bianchi"]},"nl":{"name":"Lymfoedeem - atriumseptumdefecten - veranderingen in aangezicht-syndroom","synonyms":["Syndroom van Irons-Bhan","Syndroom van Irons-Bianchi"],"definition":"Lymfoedeem - atriumseptumdefecten - veranderingen in aangezicht-syndroom wordt gekenmerkt door congenitaal lymfoedeem van onderste ledematen, atriumseptumdefect, en een typisch aangezicht (rond aangezicht met prominent voorhoofd, platte neusbrug met brede neuspunt, epicanthusplooien, dunne bovenlip, en gespleten kin). Het werd beschreven bij twee broers en een zus. Overerving lijkt autosomaal recessief te gebeuren."},"pt":{"name":"Síndrome de linfedema-defeitos do septo auricular-alterações faciais"},"pl":{"name":"Obrzęk limfatyczny - wady przegrody międzyprzedsionkowej - zmiany twarzy","synonyms":["Zespół Ironsa i Bianchi"]},"cs":{"name":"Syndrom zahrnující lymfedém, defekty síňového septa a faciální změny","synonyms":["Ironsové-Bianchiové syndrom","Irons-Bianchiové syndrom"]},"uk":{"name":"Синдром лімфедеми-дефектів міжпередсердної перегородки-зміни обличчя","synonyms":["Синдром Айронса-Бхана","Синдром Айронса-Біанкі"],"definition":"Lymphedema-atrial septal defects-facial changes syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive."},"zh":{"name":"淋巴水肿-房间隔缺损-面部改变综合征","synonyms":["Irons-Bianchi综合征"]},"tr":{"name":"Lenfödem-atriyal septal defektler-yüz değişiklikleri sendromu","synonyms":["Irons-Bhan sendromu","Irons-Bianchi sendromu"]}},"xrefs":[{"source":"OMIM","code":"601927","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BD93.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1023349858"},{"source":"MONDO","code":"0011166","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567398","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2677167","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"284","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":568044,"name":"Primary lymphedema with systemic or visceral involvement","classifications":[147,156,187,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"19533797[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19533797[PMID]"}],"phenotypes":null}