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Nasolacrimal duct obstruction

MedGen UID:
226915
Concept ID:
C1281931
Finding
Synonym: Lacrimal duct obstruction
SNOMED CT: Nasolacrimal duct obstruction (231841004); Obstruction of nasolacrimal duct (314022009); Nasolacrimal duct obstructed (314022009)
 
HPO: HP:0000579
Monarch Initiative: MONDO:0001833
OMIM®: 149700

Definition

Blockage of the lacrimal duct. [from HPO]

Conditions with this feature

Branchiooculofacial syndrome
MedGen UID:
91261
Concept ID:
C0376524
Disease or Syndrome
The branchiooculofacial syndrome (BOFS) is characterized by: branchial (cervical or infra- or supra-auricular) skin defects that range from barely perceptible thin skin or hair patch to erythematous "hemangiomatous" lesions to large weeping erosions; ocular anomalies that can include microphthalmia, anophthalmia, coloboma, and nasolacrimal duct stenosis/atresia; and facial anomalies that can include ocular hypertelorism or telecanthus, broad nasal tip, upslanted palpebral fissures, cleft lip or prominent philtral pillars that give the appearance of a repaired cleft lip (formerly called "pseudocleft lip") with or without cleft palate, upper lip pits, and lower facial weakness (asymmetric crying face or partial 7th cranial nerve weakness). Malformed and prominent pinnae and hearing loss from inner ear and/or petrous bone anomalies are common. Intellect is usually normal.
11q partial monosomy syndrome
MedGen UID:
162878
Concept ID:
C0795841
Disease or Syndrome
Jacobsen syndrome (JBS) is a contiguous gene deletion syndrome with major clinical features of growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, hammertoes, and isoimmune thrombocytopenia (Fryns et al., 1986, Epstein, 1986).
Kabuki syndrome
MedGen UID:
162897
Concept ID:
C0796004
Congenital Abnormality
Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild-to-moderate intellectual disability, and postnatal growth deficiency. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. Functional differences can include: increased susceptibility to infections and autoimmune disorders, seizures, endocrinologic abnormalities (including isolated premature thelarche in females), feeding problems, and hearing loss.
Catel-Manzke syndrome
MedGen UID:
375536
Concept ID:
C1844887
Disease or Syndrome
Catel-Manzke syndrome is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger (summary by Manzke et al., 2008).
Cornelia de Lange syndrome 3
MedGen UID:
339902
Concept ID:
C1853099
Disease or Syndrome
Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.
Oculotrichoanal syndrome
MedGen UID:
383680
Concept ID:
C1855425
Disease or Syndrome
FREM1 autosomal recessive disorders include: Manitoba oculotrichoanal (MOTA) syndrome, bifid nose with or without anorectal and renal anomalies (BNAR syndrome), and isolated congenital anomalies of kidney and urinary tract (CAKUT). MOTA syndrome is characterized by an aberrant hairline (unilateral or bilateral wedge-shaped extension of the anterior hairline from the temple region to the ipsilateral eye) and anomalies of the eyes (widely spaced eyes, anophthalmia/microphthalmia and/or cryptophthalmos, colobomas of the upper eyelid, and corneopalpebral synechiae), nose (bifid or broad nasal tip), abdominal wall (omphalocele or umbilical hernia), and anus (stenosis and/or anterior displacement of the anal opening). The manifestations and degree of severity vary even among affected members of the same family. Growth and psychomotor development are normal. BNAR syndrome is characterized by a bifid or wide nasal tip, anorectal anomalies, and renal malformations (e.g., renal agenesis, renal dysplasia). Typically the eye manifestations of MOTA syndrome are absent. FREM1-CAKUT was identified in one individual with bilateral vesicoureteral reflux (VUR) and a second individual with VUR and renal hypodysplasia.
Dyskeratosis congenita, autosomal recessive 1
MedGen UID:
341705
Concept ID:
C1857144
Disease or Syndrome
Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.
Poikiloderma with neutropenia
MedGen UID:
388129
Concept ID:
C1858723
Disease or Syndrome
Poikiloderma with neutropenia (PN) is characterized by an inflammatory eczematous rash (ages 6-12 months) followed by post-inflammatory poikiloderma (age >2 years) and chronic noncyclic neutropenia typically associated with recurrent sinopulmonary infections in the first two years of life and (often) bronchiectasis. There is increased risk for myelodysplastic syndrome and, rarely, acute myelogenous leukemia. Other ectodermal findings include nail dystrophy and palmar/plantar hyperkeratosis. Most affected individuals also have reactive airway disease and some have short stature, hypogonadotropic hypogonadism, midfacial retrusion, calcinosis cutis, and non-healing skin ulcers.
ADULT syndrome
MedGen UID:
400232
Concept ID:
C1863204
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.
Oculoauricular syndrome
MedGen UID:
393758
Concept ID:
C2677500
Disease or Syndrome
Oculoauricular syndrome (OCACS) is characterized by complex ocular anomalies, including congenital cataract, anterior segment dysgenesis, iris coloboma, and early-onset retinal dystrophy, and dysplastic ears with abnormal external ear cartilage (summary by Gillespie et al., 2015).
Odontotrichomelic syndrome
MedGen UID:
443944
Concept ID:
C2930960
Disease or Syndrome
A rare genetic disease characterized by intellectual disability, growth delay, absence deformities of upper and lower limbs, hypotrichosis, hypoplastic nails, abnormal dentition, abnormal auricles, hypoplastic nipples, thyroid enlargement, and abnormalities of tyrosine and/or tryptophane metabolism. Hypogonadism and cleft lip have also been reported. No new cases have been confirmed since 1970.
Chromosome 16p13.3 duplication syndrome
MedGen UID:
462058
Concept ID:
C3150708
Disease or Syndrome
16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.
MEGF8-related Carpenter syndrome
MedGen UID:
767161
Concept ID:
C3554247
Disease or Syndrome
Carpenter syndrome-2 (CRPT2) is an autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease (summary by Twigg et al., 2012). For a discussion of genetic heterogeneity of Carpenter syndrome, see 201000.
Intellectual disability, X-linked, syndromic 33
MedGen UID:
895979
Concept ID:
C4225418
Disease or Syndrome
X-linked syndromic intellectual developmental disorder-33 (MRXS33) is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).
Rubinstein-Taybi syndrome due to CREBBP mutations
MedGen UID:
1639327
Concept ID:
C4551859
Disease or Syndrome
Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. The characteristic craniofacial features are downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal, then height, weight, and head circumference percentiles rapidly drop in the first few months of life. Short stature is typical in adulthood. Obesity may develop in childhood or adolescence. Average IQ ranges between 35 and 50; however, developmental outcome varies considerably. Some individuals with EP300-RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems, recurrent infections, and severe constipation.
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
MedGen UID:
1659106
Concept ID:
C4751125
Disease or Syndrome
A rare developmental defect during embryogenesis syndrome with characteristics of hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported.
Tolchin-Le Caignec syndrome
MedGen UID:
1724999
Concept ID:
C5436509
Disease or Syndrome
Tolchin-Le Caignec syndrome (TOLCAS) is a developmental disorder characterized by mildly to moderately impaired intellectual development and behavioral problems, such as autism, ADHD, labile mood, and aggressive episodes. Many patients have bony abnormalities, including osteochondroma, craniosynostosis, dysmorphic facies, arachnodactyly, and large head circumference. Rarely, additional congenital anomalies may also be observed. These additional features and the bony defects are highly variable (summary by Tolchin et al., 2020).
LADD syndrome 1
MedGen UID:
1824096
Concept ID:
C5774323
Disease or Syndrome
Lacrimoauriculodentodigital syndrome-1 (LADD1) is a multiple congenital anomaly disorder mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments (summary by Rohmann et al., 2006). Genetic Heterogeneity of Lacrimoauriculodentodigital Syndrome LADD syndrome-2 (LADD2; 620192) is caused by mutation in the FGFR3 gene (134934) on chromosome 4p16, and LADD syndrome-3 (LADD3; 620193) is caused by mutation in the FGF10 gene, an FGFR ligand, on chromosome 5p12.
Neuroocular syndrome 1
MedGen UID:
1053724
Concept ID:
CN377731
Disease or Syndrome
Neuroocular syndrome-1 (NOC1) encompasses a broad spectrum of overlapping anomalies, with developmental delay or impaired intellectual development as a consistent finding. Eye abnormalities show marked variability in the type and severity of defects, and include anophthalmia, microphthalmia, and coloboma. Other common systemic features include congenital heart and kidney defects, hypotonia, failure to thrive, and microcephaly (summary by Chowdhury et al., 2021). Genetic Heterogeneity of Neuroocular Syndrome See also NOC2 (168885), caused by mutation in the DAGLA gene (614015) on chromosome 11q12.

Professional guidelines

PubMed

Sasaki T, Matsumura N, Miyazaki C, Kamao T, Yokoi N, Fujimoto M, Hayami M, Iwasaki A, Mimura M, Murata A, Nakayama T, Shinomiya K, Tanaka H, Ueta Y; Congenital Nasolacrimal Duct Obstruction: Clinical Guideline Preparation Team; Committee for Congenital Nasolacrimal Duct Obstruction Clinical Guideline
Jpn J Ophthalmol 2024 Jul;68(4):367-388. Epub 2024 Aug 16 doi: 10.1007/s10384-024-01064-4. PMID: 39150609
Nelson LB
J Pediatr Ophthalmol Strabismus 2016 Sep 1;53(5):270. doi: 10.3928/01913913-20160829-01. PMID: 27637019
Nelson LB
J Pediatr Ophthalmol Strabismus 2015 Jan-Feb;52(1):12. doi: 10.3928/01913913-20141230-04. PMID: 25643367

Recent clinical studies

Etiology

Landau-Prat D, Taylor JA, Kalmar CL, Yu Y, Ying GS, Bartlett S, Swanson J, Revere K, Binenbaum G, Katowitz WR, Katowitz JA
Ophthalmic Plast Reconstr Surg 2024 Sep-Oct 01;40(5):507-515. Epub 2024 May 9 doi: 10.1097/IOP.0000000000002631. PMID: 38722781

Diagnosis

Landau-Prat D, Taylor JA, Kalmar CL, Yu Y, Ying GS, Bartlett S, Swanson J, Revere K, Binenbaum G, Katowitz WR, Katowitz JA
Ophthalmic Plast Reconstr Surg 2024 Sep-Oct 01;40(5):507-515. Epub 2024 May 9 doi: 10.1097/IOP.0000000000002631. PMID: 38722781

Therapy

Ali MJ
Prog Retin Eye Res 2023 Sep;96:101193. Epub 2023 Jul 1 doi: 10.1016/j.preteyeres.2023.101193. PMID: 37394093
Lee IT, Chen W, Chen Q, Cole HA, Bischoff LA, Jessop AC, Sobel RK
Endocr Pract 2022 Dec;28(12):1210-1215. Epub 2022 Aug 13 doi: 10.1016/j.eprac.2022.08.006. PMID: 35970353
Luo B, Li M, Xiang N, Hu W, Liu R, Yan X
BMC Ophthalmol 2021 Jan 11;21(1):29. doi: 10.1186/s12886-020-01792-4. PMID: 33430825Free PMC Article
Petris C, Liu D
Cochrane Database Syst Rev 2017 Jul 12;7(7):CD011109. doi: 10.1002/14651858.CD011109.pub2. PMID: 28700811Free PMC Article
Jawaheer L, MacEwen CJ, Anijeet D
Cochrane Database Syst Rev 2017 Feb 24;2(2):CD007097. doi: 10.1002/14651858.CD007097.pub3. PMID: 28231605Free PMC Article

Prognosis

Mayo-Yáñez M, Viña-Vázquez S, Lechien JR, Chiesa-Estomba CM, Calvo-Henríquez C, González-Torres L
J Voice 2023 Jul;37(4):586-597. Epub 2021 Apr 11 doi: 10.1016/j.jvoice.2021.03.010. PMID: 33849761
Mishra K, Hu KY, Kamal S, Andron A, Della Rocca RC, Ali MJ, Nair AG
Ophthalmic Plast Reconstr Surg 2017 Mar/Apr;33(2):83-89. doi: 10.1097/IOP.0000000000000769. PMID: 27533513
Araujo Filho BC, Voegels RL, Butugan O, Pinheiro Neto CD, Lessa MM
Braz J Otorhinolaryngol 2005 Nov-Dec;71(6):721-5. doi: 10.1016/s1808-8694(15)31238-6. PMID: 16878238Free PMC Article
Robb RM
Ophthalmol Clin North Am 2001 Sep;14(3):443-6, viii. doi: 10.1016/s0896-1549(05)70242-x. PMID: 11705144
Hakin KN, Sullivan TJ, Sharma A, Welham RA
Aust N Z J Ophthalmol 1994 Nov;22(4):231-5. doi: 10.1111/j.1442-9071.1994.tb00789.x. PMID: 7727099

Clinical prediction guides

Yartsev VD, Atkova EL, Ekaterinchev MA
Int Ophthalmol 2023 Sep;43(9):3385-3390. Epub 2023 May 18 doi: 10.1007/s10792-023-02746-7. PMID: 37199817
Mayo-Yáñez M, Viña-Vázquez S, Lechien JR, Chiesa-Estomba CM, Calvo-Henríquez C, González-Torres L
J Voice 2023 Jul;37(4):586-597. Epub 2021 Apr 11 doi: 10.1016/j.jvoice.2021.03.010. PMID: 33849761
Alam MS, Kundu D
Indian J Ophthalmol 2022 Dec;70(12):4416-4418. doi: 10.4103/ijo.IJO_972_22. PMID: 36453356Free PMC Article
Luo B, Li M, Xiang N, Hu W, Liu R, Yan X
BMC Ophthalmol 2021 Jan 11;21(1):29. doi: 10.1186/s12886-020-01792-4. PMID: 33430825Free PMC Article
Petris C, Liu D
Cochrane Database Syst Rev 2017 Jul 12;7(7):CD011109. doi: 10.1002/14651858.CD011109.pub2. PMID: 28700811Free PMC Article

Recent systematic reviews

Navarro-Hernandez E, Galindo-Ferreiro A
Arch Soc Esp Oftalmol (Engl Ed) 2022 Dec;97(12):692-704. Epub 2022 Jul 22 doi: 10.1016/j.oftale.2022.06.007. PMID: 35879174
Saniasiaya J, Abdullah B, Husain S, Wang Y, Wan Mohammad Z
Am J Rhinol Allergy 2017 Sep 1;31(5):328-333. doi: 10.2500/ajra.2017.31.4464. PMID: 28859711
Petris C, Liu D
Cochrane Database Syst Rev 2017 Jul 12;7(7):CD011109. doi: 10.1002/14651858.CD011109.pub2. PMID: 28700811Free PMC Article
Jawaheer L, MacEwen CJ, Anijeet D
Cochrane Database Syst Rev 2017 Feb 24;2(2):CD007097. doi: 10.1002/14651858.CD007097.pub3. PMID: 28231605Free PMC Article
Lin AE, Chang YC, Lin MY, Tam KW, Shen YD
Can J Ophthalmol 2016 Feb;51(1):34-40. doi: 10.1016/j.jcjo.2015.10.002. PMID: 26874157

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