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Lacrimal duct stenosis

MedGen UID:
116054
Concept ID:
C0238300
Finding; Finding
Synonym: Nasolacrimal duct stenosis
SNOMED CT: Stenosis of nasolacrimal duct (231841004)
 
HPO: HP:0007678

Definition

Narrowing of a tear duct (lacrimal duct). [from HPO]

Term Hierarchy

Conditions with this feature

Treacher Collins syndrome
MedGen UID:
66078
Concept ID:
C0242387
Disease or Syndrome
Treacher Collins syndrome (TCS) is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. Hypoplasia of the zygomatic bones and mandible can cause significant feeding and respiratory difficulties. About 40%-50% of individuals have conductive hearing loss attributed most commonly to malformation of the ossicles and hypoplasia of the middle ear cavities. Inner ear structures tend to be normal. Other, less common abnormalities include cleft palate and unilateral or bilateral choanal stenosis or atresia. Typically intellect is normal.
Lenz-Majewski hyperostosis syndrome
MedGen UID:
98483
Concept ID:
C0432269
Congenital Abnormality
Lenz-Majewski hyperostotic dwarfism is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial and dental anomalies, loose skin, and distal limb anomalies, particularly brachydactyly and symphalangism. Patients have multiple radiographic abnormalities due to progressive generalized hyperostosis that affects the cranium, vertebrae, and diaphyses of tubular bones, leading to severe growth retardation (summary by Sousa et al., 2014).
Cholestasis-pigmentary retinopathy-cleft palate syndrome
MedGen UID:
208652
Concept ID:
C0795969
Disease or Syndrome
MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. XLOS is characterized by intellectual disability, blepharophimosis, and facial coarsening. HS has been described in females with cleft lip and/or cleft palate, biliary and liver anomalies, intestinal malrotation, pigmentary retinopathy, and coarctation of the aorta. Developmental and cognitive concerns have not been reported in females with HS. Pathogenic variants in MED12 have been reported in an increasing number of males and females with NSID, with affected individuals often having clinical features identified in other MED12-related disorders.
Epidermolysis bullosa simplex 7, with nephropathy and deafness
MedGen UID:
323004
Concept ID:
C1836823
Disease or Syndrome
Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.
Branchiootic syndrome 3
MedGen UID:
333995
Concept ID:
C1842124
Disease or Syndrome
Branchiootorenal spectrum disorder (BORSD) is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family.
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
MedGen UID:
347666
Concept ID:
C1858562
Disease or Syndrome
The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.
Combined immunodeficiency with faciooculoskeletal anomalies
MedGen UID:
442377
Concept ID:
C2750068
Disease or Syndrome
Roifman-Chitayat syndrome (ROCHIS) is an autosomal recessive digenic disorder characterized by global developmental delay, variable neurologic features such as seizures, ataxia, and optic atrophy, dysmorphic facial features, distal skeletal anomalies, and combined immunodeficiency manifest as recurrent infections (summary by Sharfe et al., 2018).
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
MedGen UID:
903767
Concept ID:
C4225396
Disease or Syndrome
Arboleda-Tham syndrome (ARTHS) is an autosomal dominant disorder with the core features of impaired intellectual development, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications (summary by Kennedy et al., 2019).
Noonan syndrome-like disorder with loose anagen hair 2
MedGen UID:
1376945
Concept ID:
C4479577
Disease or Syndrome
An inherited condition caused by autosomal dominant mutation(s) in the PPP1CB gene, encoding serine/threonine-protein phosphatase PP1-beta catalytic subunit. The condition is characterized by facial features similar to those seen in Noonan syndrome but may also include short stature, cognitive deficits, relative macrocephaly, small posterior fossa resulting in Chiari I malformation, hypernasal voice, cardiac defects, and ectodermal abnormalities, which typically presents as slow-growing, sparse, and/or unruly hair.
Branchiootorenal syndrome 1
MedGen UID:
1632634
Concept ID:
C4551702
Disease or Syndrome
Branchiootorenal spectrum disorder (BORSD) is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family.
Beck-Fahrner syndrome
MedGen UID:
1711894
Concept ID:
C5394097
Disease or Syndrome
Beck-Fahrner syndrome (BEFAHRS) is a developmental disorder characterized by global developmental delay with variably impaired intellectual development. Affected individuals often have behavioral abnormalities, such as autistic features or attention deficit-hyperactivity disorder (ADHD), as well as learning disabilities. Most patients have hypotonia and dysmorphic facies. Some may have growth abnormalities, including overgrowth or poor growth, poor feeding, and rarely, seizures. Although both monoallelic and biallelic mutations have been reported, some heterozygous carriers in autosomal recessive families may have milder symptoms; thus, both groups are included in this entry (summary by Beck et al., 2020).
Otofaciocervical syndrome 2
MedGen UID:
1782278
Concept ID:
C5442121
Disease or Syndrome
Otofaciocervical syndrome-2 with T-cell deficiency (OTFCS2) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by Pohl et al., 2013). Patients have been reported who also exhibit altered thymus development with T-cell immunodeficiency and recurrent, sometimes fatal, infections (Paganini et al., 2017; Yamazaki et al., 2020). For a discussion of genetic heterogeneity of otofaciocervical syndrome, see OTFCS1 (166780).
Noonan syndrome 14
MedGen UID:
1807988
Concept ID:
C5676916
Disease or Syndrome
Noonan syndrome-14 (NS14) is a recessive developmental disorder within the RASopathy clinical spectrum. Patients exhibit developmental delay, impaired intellectual development, and short stature, as well as distinctive dysmorphic features including bitemporal narrowing, hypertelorism, low-set posteriorly rotated ears, prominent nasal bridge, low posterior hairline with a short webbed neck, and pectus excavatum (Motta et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950).

Professional guidelines

PubMed

Park J, Kim J, Baek S
Eye (Lond) 2019 May;33(5):746-753. Epub 2018 Dec 10 doi: 10.1038/s41433-018-0305-y. PMID: 30531801Free PMC Article
Mansur C, Pfeiffer ML, Esmaeli B
Ophthalmic Plast Reconstr Surg 2017 Jan/Feb;33(1):9-12. doi: 10.1097/IOP.0000000000000745. PMID: 27429222
Bukhari AA
Saudi Med J 2013 Aug;34(8):785-92. PMID: 23974448

Recent clinical studies

Etiology

Torun MT, Yılmaz E
Braz J Otorhinolaryngol 2022 Nov-Dec;88 Suppl 1(Suppl 1):S57-S62. Epub 2021 Apr 10 doi: 10.1016/j.bjorl.2021.03.006. PMID: 33888431Free PMC Article
Eade E, Tumuluri K, Do H, Rowe N, Smith J
Clin Exp Ophthalmol 2017 Mar;45(2):168-173. Epub 2016 Sep 7 doi: 10.1111/ceo.12809. PMID: 27473389
Prokosch V, Prokosch JE, Promesberger J, Idelevich EA, Böhm MR, Thanos S, Stupp T
Curr Eye Res 2014 Nov;39(11):1069-75. Epub 2014 Jun 9 doi: 10.3109/02713683.2014.898312. PMID: 24912091
Madani I, Bonte K, Vakaet L, Boterberg T, De Neve W
Int J Radiat Oncol Biol Phys 2009 Feb 1;73(2):424-32. Epub 2008 Aug 26 doi: 10.1016/j.ijrobp.2008.04.037. PMID: 18755554
Stevens A, Spooner D
Clin Oncol (R Coll Radiol) 2001;13(6):438-40. doi: 10.1053/clon.2001.9308. PMID: 11824881

Diagnosis

Mathorne SW, Ravn P, Hansen D, Beck-Nielsen SS, Gjørup H, Sørensen KP, Fagerberg CR
Clin Genet 2020 May;97(5):779-784. Epub 2020 Feb 24 doi: 10.1111/cge.13725. PMID: 32067224
Ungprasert P, Crowson CS, Cartin-Ceba R, Garrity JA, Smith WM, Specks U, Matteson EL, Makol A
Rheumatology (Oxford) 2017 Oct 1;56(10):1763-1770. doi: 10.1093/rheumatology/kex261. PMID: 28957561Free PMC Article
Eade E, Tumuluri K, Do H, Rowe N, Smith J
Clin Exp Ophthalmol 2017 Mar;45(2):168-173. Epub 2016 Sep 7 doi: 10.1111/ceo.12809. PMID: 27473389
Webber NK, Setterfield JF, Lewis FM, Neill SM
Arch Dermatol 2012 Feb;148(2):224-7. doi: 10.1001/archdermatol.2011.580. PMID: 22351823
Meyer-Rüsenberg HW, Emmerich KH
Dtsch Arztebl Int 2010 Apr;107(14):254-8. Epub 2010 Apr 9 doi: 10.3238/arztebl.2010.0254. PMID: 20436778Free PMC Article

Therapy

Eade E, Tumuluri K, Do H, Rowe N, Smith J
Clin Exp Ophthalmol 2017 Mar;45(2):168-173. Epub 2016 Sep 7 doi: 10.1111/ceo.12809. PMID: 27473389
Prokosch V, Prokosch JE, Promesberger J, Idelevich EA, Böhm MR, Thanos S, Stupp T
Curr Eye Res 2014 Nov;39(11):1069-75. Epub 2014 Jun 9 doi: 10.3109/02713683.2014.898312. PMID: 24912091
Chalvatzis NT, Tzamalis AK, Mavrikakis I, Tsinopoulos I, Dimitrakos S
Ophthalmic Plast Reconstr Surg 2013 Mar-Apr;29(2):123-7. doi: 10.1097/IOP.0b013e31827f5a10. PMID: 23392314
Stevens A, Spooner D
Clin Oncol (R Coll Radiol) 2001;13(6):438-40. doi: 10.1053/clon.2001.9308. PMID: 11824881
Smith JA
Am J Ophthalmol 1980 Mar;89(3):449-51. doi: 10.1016/0002-9394(80)90020-3. PMID: 7369306

Prognosis

Eade E, Tumuluri K, Do H, Rowe N, Smith J
Clin Exp Ophthalmol 2017 Mar;45(2):168-173. Epub 2016 Sep 7 doi: 10.1111/ceo.12809. PMID: 27473389
Heeley J, Shinawi M
Am J Med Genet A 2015 Apr;167A(4):816-20. Epub 2015 Feb 23 doi: 10.1002/ajmg.a.36889. PMID: 25707956
Chalvatzis NT, Tzamalis AK, Mavrikakis I, Tsinopoulos I, Dimitrakos S
Ophthalmic Plast Reconstr Surg 2013 Mar-Apr;29(2):123-7. doi: 10.1097/IOP.0b013e31827f5a10. PMID: 23392314
Madani I, Bonte K, Vakaet L, Boterberg T, De Neve W
Int J Radiat Oncol Biol Phys 2009 Feb 1;73(2):424-32. Epub 2008 Aug 26 doi: 10.1016/j.ijrobp.2008.04.037. PMID: 18755554
Slavotinek AM, Tanaka J, Winder A, Vargervik K, Haggstrom A, Bamshad M
Am J Med Genet A 2005 Oct 1;138A(2):146-9. doi: 10.1002/ajmg.a.30900. PMID: 16114047

Clinical prediction guides

Ungprasert P, Crowson CS, Cartin-Ceba R, Garrity JA, Smith WM, Specks U, Matteson EL, Makol A
Rheumatology (Oxford) 2017 Oct 1;56(10):1763-1770. doi: 10.1093/rheumatology/kex261. PMID: 28957561Free PMC Article
Prokosch V, Prokosch JE, Promesberger J, Idelevich EA, Böhm MR, Thanos S, Stupp T
Curr Eye Res 2014 Nov;39(11):1069-75. Epub 2014 Jun 9 doi: 10.3109/02713683.2014.898312. PMID: 24912091
Webber NK, Setterfield JF, Lewis FM, Neill SM
Arch Dermatol 2012 Feb;148(2):224-7. doi: 10.1001/archdermatol.2011.580. PMID: 22351823
Madani I, Bonte K, Vakaet L, Boterberg T, De Neve W
Int J Radiat Oncol Biol Phys 2009 Feb 1;73(2):424-32. Epub 2008 Aug 26 doi: 10.1016/j.ijrobp.2008.04.037. PMID: 18755554
Cremers CW, Fikkers-Van Noord M
Int J Pediatr Otorhinolaryngol 1980 Nov;2(4):309-22. doi: 10.1016/0165-5876(80)90036-1. PMID: 6964893

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