{"orpha":451612,"name":"Familial congenital nasolacrimal duct obstruction","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, otorhinolaryngological malformation characterized by congenital impatency of the nasolacrimal drainage system in various members of a family. Presentation is not specific and may include a uni- or bilateral medial canthal mass, dacryocystitis, nasal obstruction, periorbital cellulitis, and epiphora. Dacryocystocele and lacrimal puncta agenesis may be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-451612/","orphanet_url":"https://www.orpha.net/en/disease/detail/451612","names":{"fr":{"name":"Obstruction congénitale familiale du canal nasolacrymal","synonyms":["Obstruction congénitale familiale du canal lacrymonasal","Obstruction congénitale familiale du conduit lacrymonasal","Obstruction congénitale familiale du conduit nasolacrymal"],"definition":"Malformation othorinolaryngologique rare d'origine génétique, caractérisée par l'obstruction congénitale du système de drainage nasolacrymal chez plusieurs membres d'une même famille. Non spécifique, la présentation peut inclure une masse bilatérale au niveau des canthus médiaux, une dacryocystite, une obstruction nasale, une cellulite préseptale et un épiphora. Une dacryocystocèle et une agénésie des points lacrymaux peuvent être associées."},"de":{"name":"Tränenwegsverschluss, familiärer kongenitaler","definition":"Eine seltene, genetisch bedingte otorhinolaryngologische Fehlbildung, die durch eine angeborene Unzulänglichkeit des nasolakrimalen Abflusssystems bei verschiedenen Mitgliedern einer Familie gekennzeichnet ist. Das Erscheinungsbild ist nicht spezifisch und kann eine ein- oder beidseitige mediale canthale Masse, Dacryocystitis, nasale Obstruktion, periorbitale Zellulitis und Epiphora umfassen. Dacryocystocele und Tränenpünktchenagenesie können assoziiert sein."},"es":{"name":"Obstrucción congénita familiar del conducto nasolagrimal","definition":"Es una malformación otorrinolaringológica, genética y poco frecuente, caracterizada por una afectación congénita del sistema de drenaje nasolagrimal en varios miembros de una misma familia. La presentación es inespecífica y puede incluir una masa cantal medial uni- o bilateral, dacriocistitis, obstrucción nasal, celulitis periorbitaria y epífora. Puede estar asociada a dacriocistocele y a agenesia del punto lagrimal."},"it":{"name":"Ostruzione congenita familiare del dotto naso lacrimale","definition":"È una malformazione genetica rara di interesse otorinolaringoiatrico, caratterizzata dalla mancata pervietà congenita del sistema di drenaggio naso-lacrimale in più membri della stessa famiglia. Il quadro clinico è aspecifico e comprende la presenza di una massa cantale mediana mono- o bilaterale, la dacriocistite, l'ostruzione nasale, la cellulite periorbitale e l'epifora. Può associarsi a dacriocistocele e all'agenesia dei punti lacrimali."},"nl":{"name":"Familiale congenitale obstructie van ductus nasolacrimalis","definition":"Een zeldzame, genetische, otorinolaryngologische malformatie, gekarakteriseerd door congenitale ondoorgankelijkheid van het nasolacrimale afvoersysteem bij verschillende leden van een familie. De presentatie is niet specifiek en omvat mogelijk een uni- of bilaterale mediale canthale massa, dacryocystitis, nasale obstructie, periorbitale cellulitis, en epifora. Dacryocystocele en agenesie van traanpunten (punctum lacrimale) kunnen geassocieerd zijn."},"pt":{"name":"Obstrução congénita do ducto nasolacrimal"},"pl":{"name":"Rodzinna wrodzona niedrożność przewodu nosowo-łzowego"},"cs":{"name":"Familiární vrozená obstrukce ductus nasolacrimalis"},"uk":{"name":"Сімейна вроджена непрохідність носослізної протоки","definition":"A rare, genetic, otorhinolaryngological malformation characterized by congenital impatency of the nasolacrimal draingage system in various members of a family. Presentation is not specific and may include a uni- or bilateral medial canthal mass, dacryocystitis, nasal obstruction, periorbital cellulitis, and epiphora. Dacryocystocele and lacrimal puncta agenesis may be associated."},"zh":{"name":"家族性先天性鼻泪管阻塞","definition":"一种罕见的遗传性耳鼻喉科畸形，特征是家庭各个成员的鼻泪引流系统先天性闭塞。表现无特异性，可能包括单侧或双侧内侧沟状肿块，泪囊炎，鼻阻塞，眶周蜂窝织炎和泪溢。可合并泪囊囊肿和泪点发育不全。"},"tr":{"name":"ailesel Doğumsal nazolakrimal kanal tıkanıklığı"}},"xrefs":[{"source":"OMIM","code":"149700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q10.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA14.14","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007871","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681101","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":435606,"name":"Genetic nose and cavum anomaly","classifications":[156]},{"orpha":98605,"name":"Lacrimal drainage system anomaly","classifications":[147,189]},{"orpha":522534,"name":"Lacrimal drainage system anomaly of genetic origin","classifications":[156]},{"orpha":156246,"name":"Nose and cavum anomaly","classifications":[147,200]}],"children":[],"genes":[{"symbol":"IGSF3","name":"immunoglobulin superfamily member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24372406[PMID]","hgnc":"5950","ensembl":"ENSG00000143061","omim":"603491","loci":["1p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"24372406[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24372406[PMID]"}],"phenotypes":null}