{"orpha":217266,"name":"BNAR syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Bifid nose with or without anorectal and renal anomalies"],"definition":"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-217266/","orphanet_url":"https://www.orpha.net/en/disease/detail/217266","names":{"fr":{"name":"Syndrome BNAR","synonyms":["Nez bifide avec ou sans anomalies anorectales et rénales"],"definition":"Le syndrome BNAR est un syndrome d'anomalies congénitales multiples très rare, caractérisé par un nez bifide (avec une pointe bulbeuse mais non associée à un hypertélorisme), en présence ou non d'anomalies anales (i.e. une antéposition anale, une sténose ou une atrésie rectale), une dysplasie rénale (agénésie rénale unilatérale ou bilatérale;), sans déficience intellectuelle. Sur le plan phénotypique, le syndrome BNAR est relié au syndrome de Fraser et au syndrome oculo-tricho-anal."},"de":{"name":"BNAR-Syndrom","synonyms":["Bifide Nase mit/ohne anorektale und renale Anomalien"]},"es":{"name":"Síndrome BNAR","synonyms":["Nariz bífida con o sin anomalías anorrectales y renales"],"definition":"El síndrome BNAR es una anomalía congénita múltiple muy rara caracterizada por nariz bífida (véase este término) (con punta nasal bulbosa, pero no asociado a hipertelorismo) con o sin presencia de defectos anales (como ano anterior, estenosis rectal o atresia) y displasia renal (agenesia renal unilateral o bilateral, véanse estos términos) y sin discapacidad intelectual. Está relacionado fenotípicamente con el síndrome de Fraser y el síndrome oculotricoanal (véanse estos términos)."},"it":{"name":"Sindrome BNAR","synonyms":["Naso bifido con o senza anomalie renali e anorettali"],"definition":"La sindrome BNAR è una sindrome da anomalie congenite multiple molto rara, caratterizzata da naso bifido (si veda questo termine) (con punta globosa, ma senza ipertelorismo) con o senza difetti anali (ano anteriorizzato, atresia o stenosi rettale) e displasia renale (agenesia renale monolaterale o bilaterale; si vedano questi termini), in assenza di deficit cognitivo. La sindrome BNAR è fenotipicamente correlata alla sindrome di Fraser e alla sindrome oculo-trico-anale (si vedano questi termini)."},"nl":{"name":"BNAR-syndroom","synonyms":["Bifide neus met of zonder anorectale en renale anomalieën"],"definition":"Een zeer zeldzaam syndroom met multipele congenitale anomalieën, gekarakteriseerd door een bifide neus (met bolvormige neuspunt maar niet geassocieerd met hypertelorisme) met of zonder aanwezigheid van anale defecten (i.e. anterieur geplaatste anus, rectale stenose of atresie) en renale dysplasie (unilaterale of bilaterale renale agenesie) en zonder intellectuele achterstand. BNAR-syndroom is fenotypisch verwant aan syndroom van Fraser en oculotrichoanaal syndroom."},"pt":{"name":"Síndrome de BNAR"},"pl":{"name":"Zespół BNAR","synonyms":["Rozszczep nosa z lub bez wad odbytu i odbytnicy oraz nerek"]},"cs":{"name":"BNAR syndrom","synonyms":["Rozštěp nosu s nebo bez anorektálních a renálních anomálií"]},"uk":{"name":"Синдром BNAR","synonyms":["Біфідний ніс з аномаліями аноректальної та ниркової системи або без них"],"definition":"BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (see this term) (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis, see these terms) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms)."},"zh":{"name":"二裂鼻伴或不伴肛门直肠和肾异常综合征","synonyms":["二裂鼻伴或不伴肛门直肠和肾异常综合征"],"definition":"BNAR综合征是一种非常罕见的多发性先天性异常综合征，其特征是鼻裂（见该词条）（鼻尖呈球形，但不伴有器官距离过远），伴有或不伴有肛门缺损（即肛门前位、直肠狭窄或闭锁）和肾发育不良（单侧或双侧肾发育不全，见这些词条）且无智力障碍。BNAR综合征的表型与 Fraser 综合征和眼眶综合征（见这些词条）有关。"},"tr":{"name":"BNAR sendromu","synonyms":["Anorektal ve böbrek anomalileri olan veya olmayan bifid burun"]}},"xrefs":[{"source":"OMIM","code":"608980","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1130540083"},{"source":"MONDO","code":"0012165","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567672","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2750433","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10595","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":435606,"name":"Genetic nose and cavum anomaly","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":156246,"name":"Nose and cavum anomaly","classifications":[147,200]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"FREM1","name":"FRAS1 related extracellular matrix 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19732862[PMID]_23401257[PMID]","hgnc":"23399","ensembl":"ENSG00000164946","omim":"608944","loci":["9p22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"24115501[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-01-19","source":"19732862[PMID]_23401257[PMID]","terms":[{"hpo":"HP:0011803","label":"Bifid nose","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0010322","label":"Abnormality of the 5th toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002025","label":"Anal stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001545","label":"Anteriorly placed anus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000200","label":"Short lingual frenulum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012252","label":"Abnormal respiratory system morphology","frequency":"Occasional (29-5%)","criteria":null}]}}