{"orpha":1252,"name":"Blepharonasofacial malformation syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Pashayan syndrome","Pashayan-Pruzansky syndrome"],"definition":"Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1252/","orphanet_url":"https://www.orpha.net/en/disease/detail/1252","names":{"fr":{"name":"Syndrome blépharo-naso-facial","synonyms":["Syndrome de Pashayan","Syndrome de Pashayan-Pruzansky"],"definition":"Le syndrome blépharo-naso-facial (SBNF) est un syndrome de malformation otorhinolaryngologique rare caractérisé par une dysmorphie faciale à l'aspect de masque caractéristique, une obstruction des canaux lacrymaux, des signes extrapyramidaux, des malformations digitales et un déficit intellectuel."},"de":{"name":"Blepharo-naso-faziales Syndrom","synonyms":["Pashayan-Prozansky-Syndrom","Pashayan-Syndrom"],"definition":"Das Blepharo-naso-faziale Syndrom ist ein seltenes oto-rhino-laryngologisches Fehlbildungs-Syndrom und gekennzeichnet durch maskenartiges Gesicht, Obstruktion der Tränengänge, extrapyramidale Zeichen, Fingerfehlbildungen und Intelligenzminderung."},"es":{"name":"Síndrome de malformación bléfaro-naso-facial","synonyms":["Síndrome de Pashayan","Síndrome de Pashayan-Prozansky"],"definition":"El síndrome blefaro-naso-facial es un síndrome malformativo otorrinolaringológico poco frecuente caracterizado por un distintivo dismorfismo facial de máscara, obstrucción del conducto lagrimal, características extrapiramidales, malformaciones digitales y déficit intelectual."},"it":{"name":"Sindrome da malformazione blefaro-naso-facciale","synonyms":["Sindrome di Pashayan","Sindrome di Pashayan-Prozansky"],"definition":"La sindrome blefaronasofacciale è una sindrome malformativa otorinolaringoiatrica rara, caratterizzata da dismorfismi facciali peculiari \"a maschera\", ostruzione dei dotti lacrimali, segni extrapiramidali, malformazioni delle dita e disabilità cognitiva."},"nl":{"name":"Blefaronasofaciale malformatie-syndroom","synonyms":["Syndroom van Pashayan","Syndroom van Pashayan-Prozansky"],"definition":"Blefaro-naso-faciaal syndroom is een zeldzaam oto-rhino-laryngologisch malformatiesyndroom gekenmerkt door een opvallende maskerachtige gezichtsdysmorfie, obstructie van het traankanaal, extrapiramidale kenmerken, digitale misvormingen en intellectuele achterstand."},"pt":{"name":"Síndrome de malformação blefaro-naso-facial"},"pl":{"name":"Zespół malformacji powiekowo-nosowo-twarzowej","synonyms":["Zespół Pashayan","Zespół Pashayan i Prozansky'ego"],"definition":"Zespół malformacji powiekowo-nosowo-twarzowej jest rzadkim zespołem malformacji otorynolaryngologicznych i charakteryzuje się typową dysmorfią twarzy, przypominającą maskę, niedrożnością przewodu łzowego, objawami pozapiramidowymi, wadami rozwojowymi palców i niepełnosprawnością intelektualną."},"cs":{"name":"Blefaronazofaciální malformační syndrom","synonyms":["Pashayanův syndrom","Pashayanův-Pruzanského syndrom","Pashayan-Pruzanského syndrom"]},"uk":{"name":"Синдром блефароназофаціальних вад розвитку","synonyms":["Синдром Пашаяна","Синдром Пашаяна-Прузанського"],"definition":"Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability."},"zh":{"name":"睑鼻面畸形综合征","synonyms":["Pashayan-Pruzansky综合征"]},"tr":{"name":"Blefaronasofasiyal malformasyon sendromu","synonyms":["Pashayan sendromu","Pashayan-Pruzansky sendromu"]}},"xrefs":[{"source":"OMIM","code":"110050","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007200","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536303","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796197","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4238","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":435606,"name":"Genetic nose and cavum anomaly","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":156246,"name":"Nose and cavum anomaly","classifications":[147,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","X-linked dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"10631920[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10631920[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000632","label":"Lacrimation abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001304","label":"Torsion dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000499","label":"Abnormal eyelash morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005338","label":"Sparse lateral eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Occasional (29-5%)","criteria":null}]}}