Raras
Buscar doenças, sintomas, genes...
Microtia - coloboma ocular - ducto nasolacrimal imperfurado
ORPHA:139450CID-10 · Q13.8OMIM 611863DOENÇA RARA

Esta síndrome é caracterizada pela associação de microtia, coloboma ocular e imperfuração do ducto nasolacrimal.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Esta síndrome é caracterizada pela associação de microtia, coloboma ocular e imperfuração do ducto nasolacrimal.

Publicações científicas
27.041 artigos
Último publicado: 2026 Mar

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
1
pacientes catalogados
Início
No data available
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q13.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

👁️
Olhos
2 sintomas
🫘
Rins
1 sintomas

+ 2 sintomas em outras categorias

Características mais comuns

90%prev.
Microtia
Muito frequente (99-80%)
90%prev.
Atresia do ducto lacrimal
Muito frequente (99-80%)
55%prev.
Fotofobia
Frequente (79-30%)
55%prev.
Coloboma da íris
Frequente (79-30%)
Herança autossômica dominante
5sintomas
Muito frequente (2)
Frequente (2)
Sem dados (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 5 características clínicas mais associadas, ordenadas por frequência.

Microtia
Muito frequente (99-80%)90%
Atresia do ducto lacrimalLacrimal duct atresia
Muito frequente (99-80%)90%
FotofobiaPhotophobia
Frequente (79-30%)55%
Coloboma da írisIris coloboma
Frequente (79-30%)55%
Herança autossômica dominanteAutosomal dominant inheritance

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico27.041PubMed
Últimos 10 anos131publicações
Pico202319 papers
Linha do tempo
2026Hoje · 2026📈 2023Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico5
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Microtia - coloboma ocular - ducto nasolacrimal imperfurado

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

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3 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

0 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
7.533 papers (10 anos)

Mostrando amostra de 131 publicações de um total de 7.533

#1

Lacrimal drainage system involvement in CHARGE syndrome: a two-case report.

Orbit (Amsterdam, Netherlands)2026 Feb 17

CHARGE syndrome is a rare multisystem disorder, with ocular colobomas being the most frequent ophthalmic manifestation. Lacrimal drainage system anomalies are distinctly uncommon, with only a handful of cases reported. We describe two children with CHARGE syndrome who presented with bilateral lower punctal agenesis and complex nasolacrimal duct obstruction (NLDO). The first patient had recurrent dacryocystitis and long-standing epiphora; examination revealed bilateral absence of the lower puncta, right NLDO, and partial stenosis of the left nasolacrimal duct. He underwent right external dacryocystorhinostomy and left lacrimal probing with bilateral monocanalicular stenting, resulting in resolution of infection and marked reduction of tearing. The second patient had bilateral bony obstruction; probing revealed a hard stop within the duct that prevented stent placement, and surgery was deferred. These cases expand the limited spectrum of lacrimal anomalies in CHARGE syndrome and highlight the importance of careful lacrimal evaluation and the potential role of CT imaging in guiding management.

#2

Ophthalmic features of 218 children with Williams syndrome in china: A single-center retrospective study.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie2026 Jan

Williams syndrome (WS) is a multisystem neurodevelopmental disorder caused by microdeletions in 7q11.23. This study aimed to evaluate ophthalmic manifestations in Chinese children with WS. Children diagnosed with WS were retrospectively recruited for the study. Clinical data were analyzed to obtain visual outcomes, optical biometry, and the incidence of different ocular manifestations. A total of 218 patients (134 males; 84 females) with Williams syndrome were included, with a median age of 4.15 (3.61) years. Refractive analysis revealed clinically significant refractive errors in 70.18% (153/218), comprising myopia in 28.44% (62/218), hyperopia in 5.50% (12/218), and astigmatism in 62.39% (136/218); anisometropia (≥ 1.00D) was present in 7.34% (16/218).Ocular biometry (154 patients, 308 eyes) showed mean axial length of 21.67 ± 0.90 mm and keratometry of 44.07 ± 1.66 D. Strabismus prevalence was 7.34% (16/218), predominantly esotropia (11/218, 5.05%). External examination identified bilateral congenital nasolacrimal duct obstruction in 46.79% (102/218), entropion in 25.23% (55/218), allergic conjunctivitis in 20.64% (45/218), and ptosis in 0.92% (2/218). WS is a complex multisystem genetic disorder with diverse ophthalmic findings. Our study revealed a high incidence of refractive errors, dominated by astigmatism in WS patients.We observed shorter axial lengths compared to age-matched peers. Esotropia was the predominant form of strabismus. Nasolacrimal duct obstruction, entropion also occurred frequently.These ocular manifestations warrant early clinical attention in Chinese WS patients.

#3

Suspected Calvarial Hyperostosis Syndrome Causing Different Ophthalmological Signs in Two Young Labrador Retrievers-Case Report.

Veterinary ophthalmology2026 Jan

To describe calvarial hyperostosis syndrome (CHS) as a potential and unusual cause of exophthalmos or epiphora in young dogs. A nine-month-old female intact (case 1) and a two-year-old male intact Labrador Retriever (case 2). Patient history, including previous treatments, was documented. Both cases underwent physical and ophthalmological examinations, computed Tomography (CT), and histopathological analysis. Additional dacryocystorhinography (DCR) was performed in case 2. Lateral exophthalmos of the left eye was the primary clinical sign in case 1. In case 2, serous lacrimal discharge was observed without other signs of ocular irritation. A slightly thickened and firm area distal to the medial canthus of the right eye was also noted. In this case, Jones 1 test on the right side was negative, whereas Jones test 2 revealed increased resistance when flushing the nasolacrimal system. CT imaging in both cases identified solid, smoothly marginated new bone formation. In case 1, this involved the left frontal bone, occipital bone, parietal bone, and temporal bone. In case 2, the new bone formation affected the right lacrimal bone and frontal process of the maxillary bone, leading to encasement and narrowing of the nasolacrimal duct (NLD). Histopathological analysis revealed active bone remodeling with osteoblasts in case 1, while case 2 demonstrated regularly differentiated trabecular lamellar bone with intertrabecular spaces. No evidence of neoplasia or osteomyelitis was observed in either case. Taken together, these findings strongly support a diagnosis of CHS in both cases. CHS involving flat bones can present as exophthalmos or epiphora and should be considered in the differential diagnoses of these conditions, particularly in young dogs.

#4

FGF10/IGSF3 Variants in Bony Congenital Nasolacrimal Duct Obstruction: A Genotype-Phenotype Study of Syndromic Versus Isolated Disease.

Investigative ophthalmology &amp; visual science2025 Dec 01

The purpose of this study was to identify pathogenic variants associated with congenital bony nasolacrimal duct obstruction (bony CNLDO) and to clarify genotype-phenotype correlations. In this single-center retrospective case study, children with clinically confirmed bony CNLDO and their relatives underwent detailed ophthalmic, systemic examinations, orbital computed tomography (CT), and maxillofacial magnetic resonance imaging (MRI). Whole-exome sequencing (WES) was performed on peripheral blood samples. Bioinformatics tools were utilized to predict variant pathogenicity, and classifications were performed according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Thirty-two participants were included in this study, comprising six families and seven sporadic cases. WES identified 8 novel FGF10 variants, including 6 missense mutations (c.598C>G, c.316T>G, c.395T>C, c.316T>C, c.327C>G, and c.332T>G), one intronic splicing mutation (c.429+2T>A), and one heterozygous deletion at chromosome 5p12 encompassing the FGF10 gene. Two sporadic cases had no identifiable pathogenic variants. All patients with FGF10 variants exhibited syndromic aplasia of lacrimal and salivary glands (ALSGs) phenotype characterized by bony CNLDO, punctal anomalies, and hypoplasia of lacrimal, parotid, and submandibular glands. Three novel IGSF3 variants were also identified including two missense mutations (c.2872G>C and c.2531G>A) and one nonsense mutation (c.2416G>T). In contrast, individuals carrying IGSF3 variants showed isolated bony CNLDO with normal glandular morphology. Bony CNLDO is predominantly a monogenic disorder involving FGF10 or IGSF3. FGF10 mutations are associated with syndromic, multi-gland hypoplasia, whereas IGSF3 mutations result in isolated bony CNLDO. These findings enhance understanding of the genetic heterogeneity and genotype-phenotype correlations underlying bony CNLDO, with real-world implications for genetic diagnosis and counseling.

#5

Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females.

Turkish archives of pediatrics2025 Mar 07

Objective: Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder caused by EFNB1 pathogenic variants. It is characterized by coronal synostosis, facial asymmetry, hypertelorism, bifid nasal tip, woolly hair, longitudinal nail ridging, and skeletal anomalies in heterozygous females. Hemizygous males paradoxically display a less severe phenotype. This study aims to further define the clinical and mutational spectrum of CFNS in 8 new families. Materials and Methods: Nine female and 2 male patients were included. After detailed phenotypic characterization, Sanger sequencing of EFNB1 was performed, followed by deletion duplication analysis of mutation-negative patients. Results: Universal findings in affected females included wide nasal bridge, hypertelorism, and nasal tip abnormalities. Clinical features were consistent with literature data in the majority, except for 2 females with a mild phenotype resembling hemizygous males. Rare or previously undescribed features included enlarged cisterna magna, nasolacrimal duct obstruction, mesoaxial polydactyly, small echogenic kidney, and hypoplastic labia minora in females, and metopic groove, columellar skin pit, and absent midline mustache hair in males. Genetic analyses identified 6 EFNB1 variants, including a novel variant, heterozygous in females and hemizygous in males. One female patient with a classical CFNS phenotype had no identifiable EFNB1 variant. Conclusion: This study of the largest CFNS cohort from Türkiye expands the phenotypic spectrum in affected males and females and contributes to the genetic landscape of EFNB1 variants. Two females of the cohort with a phenotype at the mildest end of the CFNS spectrum emphasize the importance of recognizing atypical CFNS presentations for timely diagnosis and accurate genetic counseling.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 130

2026

Lacrimal drainage system involvement in CHARGE syndrome: a two-case report.

Orbit (Amsterdam, Netherlands)
2025

FGF10/IGSF3 Variants in Bony Congenital Nasolacrimal Duct Obstruction: A Genotype-Phenotype Study of Syndromic Versus Isolated Disease.

Investigative ophthalmology &amp; visual science
2025

Endoscopic and surgical evaluation of epiphora in children with Down syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2025

Multidisciplinary management of nasal and lacrimal drainage disorders in ectrodactyly-ectodermal dysplasia-clefting syndrome.

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society
2026

Ophthalmic features of 218 children with Williams syndrome in china: A single-center retrospective study.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2025

Radiographic Changes of the Nasolacrimal Duct in Silent Sinus Syndrome.

Seminars in ophthalmology
2025

Magnetic removal of fragmented Crawford hook during nasolacrimal duct probing.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2025

Nasolacrimal Lavage as a Treatment for Ocular Surface Toxic Soup Syndrome.

Journal of visualized experiments : JoVE
2025

Lacrimal drainage pathway disease-associated keratopathy effectively diagnosed with dacryoendoscopy: a report of two cases.

BMC ophthalmology
2025

Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females.

Turkish archives of pediatrics
2024

Exploring the Ocular Transmission Potential of Severe Acute Respiratory Syndrome Coronavirus 2 and the Assessment of Conjunctival Swab Test Results: A Concise Review.

Journal of current ophthalmology
2025

Exudative retinal detachment in a pediatric patient with Rubinstein-Taybi syndrome.

Retinal cases &amp; brief reports
2026

Suspected Calvarial Hyperostosis Syndrome Causing Different Ophthalmological Signs in Two Young Labrador Retrievers-Case Report.

Veterinary ophthalmology
2025

Down syndrome is a risk factor for developing corneal ulcers following nasolacrimal duct stenting.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2025

Orbital compartment syndrome in orbital mucormycosis: spot the threat through radiologist's eye.

Emergency radiology
2025

Expansion of genotypic and phenotypic findings in ADAMTS18-related ocular pathology.

American journal of ophthalmology case reports
2025

Understanding the Spectrum of Mild Clinical Outcomes and Novel Findings in Arterial Tortuosity Syndrome Among Qatari Patients: Implications of SLC2A10 Mutation.

Biomedicines
2025

Nasolacrimal Duct Obstruction in a Patient With Sotos Syndrome.

Ophthalmic plastic and reconstructive surgery
2024

The effect of age on congenital nasolacrimal duct obstruction probing and stent intubation outcomes in pediatric Down syndrome patients.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2024

Duplication of the Lacrimal Sac With Three Canaliculi.

Ophthalmic plastic and reconstructive surgery
2024

Dry eye and decreased tear film stability in primary acquired nasolacrimal duct obstruction patients.

International ophthalmology
2024

Update on lacrimal apparatus dysfunction associated with differentiated thyroid cancer after I-131 therapy.

International ophthalmology
2025

Management and outcomes of congenital nasolacrimal duct obstruction in trisomy 21 patients vs. non-trisomy 21 patients within a paediatric population: a 5-year follow-up.

Orbit (Amsterdam, Netherlands)
2024

Bilateral Dacryocystoceles in Congenital Arhinia.

Ophthalmic plastic and reconstructive surgery
2024

[Dacryocystorhinostomy with a counteropening in the treatment of secondary nasolacrimal duct obstruction after radioiodine therapy].

Vestnik oftalmologii
2024

Lacrimal Obstruction in Craniosynostosis: Anatomical and Genetic Risk Factors.

Ophthalmic plastic and reconstructive surgery
2025

Dilemmas in the management of lacrimal drainage anomalies in BOSMA (congenital arhinia-microphthalmia) syndrome.

Orbit (Amsterdam, Netherlands)
2024

Ophthalmic features of Lamb-Shaffer syndrome: a case series.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2024

Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis.

American journal of medical genetics. Part A
2024

Virtual Reality and Mixed Reality-Assisted Endoscopic DCR in Extremely Complex Lacrimal Obstructions.

The Laryngoscope
2024

[The lacrimal apparatus as an organ at risk during radionuclide therapy].

Problemy endokrinologii
2024

A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene.

Molecular syndromology
2024

Bony Congenital Nasolacrimal Duct Obstruction: A Novel Phenotype of Aplasia of Lacrimal and Major Salivary Glands.

Ophthalmology
2024

Computed Tomographic Evaluations in Patients with Empty Nose Syndrome.

The Laryngoscope
2023

Re: "Outcome of Primary Monocanalicular Stent Placement in Pediatric Down Syndrome Patients with Congenital Nasolacrimal Obstruction".

Ophthalmic plastic and reconstructive surgery
2023

Case report: ADULT syndrome: a rare case of congenital lacrimal duct abnormality.

Frontiers in genetics
2023

Dry Eye Assessment of Patients Undergoing Endoscopic Dacryocystorhinostomy for Nasolacrimal Duct Obstruction Combined with Dry Eye Syndrome.

Korean journal of ophthalmology : KJO
2023

Bilateral Nasolacrimal Duct Obstruction Managed With Probing and Irrigation in a Patient With FGF10-Associated Lacrimo-auriculo-dento-digital Syndrome.

Journal of pediatric ophthalmology and strabismus
2023

IgG4-Related Disease Mimicking Unilateral Urothelial Carcinoma: A Rare Case Report and Literature Review.

Clinical medicine insights. Case reports
2023

Meibomian Gland Dysfunction in Primary Acquired Nasolacrimal Duct Obstruction.

The Journal of craniofacial surgery
2023

Outcome of Primary Monocanalicular Stent Placement in Pediatric Down Syndrome Patients with Congenital Nasolacrimal Obstruction.

Ophthalmic plastic and reconstructive surgery
2023

Identification of a novel mutation in the FGF10 gene in a Chinese family with obvious congenital lacrimal duct dysplasia in lacrimo-auriculo-dento-digital syndrome.

International journal of ophthalmology
2023

The Ophthalmic Manifestations of Down Syndrome.

Children (Basel, Switzerland)
2023

Evaluating the outcomes of children undergoing lacrimal surgery for congenital nasolacrimal duct obstruction with the aim of developing a patient pathway for children presenting to a tertiary paedatric service with epiphora.

The Journal of laryngology and otology
2023

Bilateral Congenital Nasolacrimal Duct Obstruction in Williams-Beuren Syndrome.

Ophthalmic plastic and reconstructive surgery
2023

Goldenhar syndrome associated with lacrimal system agenesis: A case report.

American journal of ophthalmology case reports
2022

Ocular Cyclopentolate: A Mini Review Concerning Its Benefits and Risks.

Clinical ophthalmology (Auckland, N.Z.)
2023

The ocular graft-versus-host disease: the path from current knowledge to future managements.

Eye (London, England)
2024

Lacrimal drainage anomalies in Pierre Robin sequence.

Orbit (Amsterdam, Netherlands)
2023

A New Case and Comprehensive Review of the Ophthalmic Manifestations of 172 Individuals With Branchio-Oculo-Facial Syndrome.

Journal of pediatric ophthalmology and strabismus
2022

Extended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia.

Children (Basel, Switzerland)
2023

Tear instability in the fellow eye of unilateral nasolacrimal obstruction and resolution with dacryocystorhinostomy.

Orbit (Amsterdam, Netherlands)
2023

Reduced tear break-up time in the fellow eye of patients with unilateral primary acquired nasolacrimal duct obstruction.

International ophthalmology
2022

Down syndrome: a review of ocular manifestations.

Therapeutic advances in ophthalmology
2022

Antineutrophil Cytoplasmic Antibody-Associated Vasculitis With Immunoglobulin G4 Involvement in Lacrimal Sac Squamous Cell Carcinoma.

Ophthalmic plastic and reconstructive surgery
2022

Primary Monocanalicular Stent Intubation for Children With Congenital Nasolacrimal Duct Obstruction: Surgical Outcome and Risk Factors.

Ophthalmic plastic and reconstructive surgery
2023

Management of congenital nasolacrimal duct obstruction in down syndrome.

Eye (London, England)
2022

Ophthalmological manifestations in 6 patients diagnosed with Williams-Beuren syndrome and literature review.

Archivos de la Sociedad Espanola de Oftalmologia
2022

Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D.

American journal of medical genetics. Part A
2022

Severe ophthalmia neonatorum in Southwest China: a 5-year review of demographics, microbiological results, and risk factors.

International ophthalmology
2022

Prevalence and Risk Factors of Dry Eye Symptoms after Successful Dacryocystorhinostomy for Patients with Lacrimal Passage Obstruction.

European journal of ophthalmology
2022

A case of blepharophimosis: Freeman Sheldon syndrome.

Ophthalmic genetics
2021

COVID-19 and the Eye: Ocular Manifestations, Treatment and Protection Measures.

Ocular immunology and inflammation
2022

Evaluation of lacrimal drainage system in Pseudoexfoliation syndrome.

Eye (London, England)
2023

Association between blepharophimosis-ptosis-epicanthus inversus syndrome and lacrimal system anomalies.

Orbit (Amsterdam, Netherlands)
2021

Extended Anterior Inferior Approach to Endoscopic Medial Maxillectomy for Maxillary Sinus Lesions.

American journal of rhinology &amp; allergy
2021

Acute dacryocystitis retention syndrome due to Epstein-Barr virus.

Archivos de la Sociedad Espanola de Oftalmologia
2021

Waardenburg Syndrome Associated With Bilateral Nasolacrimal Duct Obstruction.

Journal of pediatric ophthalmology and strabismus
2021

Novel Findings in Floating-Harbor Syndrome and a Mini-Review of the Literature.

Molecular syndromology
2021

Modified ocular surface disease index as a screening criteria for dry eye syndrome presenting after successful dacryocystorhinostomy.

PloS one
2020

Endoscopic combined middle and inferior meatal antrostomies approach in treatment of maxillary sinus inverting papilloma.

Wideochirurgia i inne techniki maloinwazyjne = Videosurgery and other miniinvasive techniques
2021

Updates on congenital lacrimal drainage anomalies and their association with syndromes and systemic disorders: A major review.

Annals of anatomy = Anatomischer Anzeiger : official organ of the Anatomische Gesellschaft
2021

Changes in Corneal Subbasal Nerves after Punctal Occlusion in Dry Eye Disease.

Current eye research
2020

Congenital nasolacrimal duct obstruction update study (CUP study): Paper II - Profile and outcomes of complex CNLDO and masquerades.

International journal of pediatric otorhinolaryngology
2020

Update and Recommendations for Ocular Manifestations of COVID-19 in Adults and Children: A Narrative Review.

Ophthalmology and therapy
2020

Punctal agenesis and delayed-onset dacryocystocele in CHARGE syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2020

Ophthalmological abnormalities in Down syndrome among Brazilian patients.

American journal of medical genetics. Part A
2020

CHARGE syndrome without colobomas: Ophthalmic findings.

American journal of medical genetics. Part C, Seminars in medical genetics
2021

Lacrimal drainage system involvement in Peters anomaly: clinical features and outcomes.

Orbit (Amsterdam, Netherlands)
2020

Ocular Symptoms of SARS-CoV-2: Indication of Possible Ocular Transmission or Viral Shedding.

Ocular immunology and inflammation
2021

Cerebral palsy and associated complex congenital nasolacrimal duct obstruction and pediatric acute dacryocystitis.

Orbit (Amsterdam, Netherlands)
2020

Double puncta canaliculi may exhibit different clinical presentations.

Arquivos brasileiros de oftalmologia
2020

Role of the Eye in Transmitting Human Coronavirus: What We Know and What We Do Not Know.

Frontiers in public health
2020

COVID-19: Ophthalmological Aspects of the SARS-CoV 2 Global Pandemic.

Klinische Monatsblatter fur Augenheilkunde
2020

Changes of Visual Symptoms and Functions in Patients with and without Dry Eye after Lacrimal Passage Obstruction Treatment.

Current eye research
2020

Reversible Endoscopic Medial Maxillectomy: Endonasal Approach to Diseases of the Maxillary Sinus.

International archives of otorhinolaryngology
2021

Lacrimal drainage system anomalies in Williams-Beuren syndrome.

Orbit (Amsterdam, Netherlands)
2020

Prevalence and Treatment Outcome of Nasolacrimal Duct Obstruction in Saudi Children with Down Syndrome.

Cureus
2020

Loss of Pacer Spikes as electrocardiographic (EKG) Artifact Due to Microdebrider Use During Endoscopic Dacryocystorhinostomy.

Ophthalmic plastic and reconstructive surgery
2021

A rare association of blepharophimosis-ptosis-epicanthus inversus case with congenital nasolacrimal duct obstruction.

European journal of ophthalmology
2020

Hypohidrotic ectodermal dysplasia: a case report.

Orbit (Amsterdam, Netherlands)
2019

Surgical treatment of esotropia and unilateral ptosis in a patient with Cornelia de Lange syndrome.

Yeungnam University journal of medicine
2020

Lacrimal Drainage Anomalies in CHARGE Syndrome: Case Report and Review of Literature.

Ophthalmic plastic and reconstructive surgery
2019

A case with acquired lacrimal fistula due to Sjögren's syndrome.

American journal of ophthalmology case reports
2019

Ocular surface system alterations in ocular graft-versus-host disease: all the pieces of the complex puzzle.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2019

A Case of Velocardiofacial Syndrome With Bilateral Inferior Punctum and Canalicular Agenesis.

Ophthalmic plastic and reconstructive surgery
2019

Prolactin and Prolactin-inducible protein (PIP) in the pathogenesis of primary acquired nasolacrimal duct obstruction (PANDO).

Medical hypotheses
2020

Outcomes of primary powered endoscopic dacryocystorhinostomy in syndromic congenital nasolacrimal duct obstruction.

Orbit (Amsterdam, Netherlands)
2019

[Relative effectiveness of methods of obturating the lacrimal duct in the treatment of patients with dry eye syndrome].

Vestnik oftalmologii
2019

Punctal and peri-punctal involvement in Urbach-Wiethe syndrome: case report and review of literature.

Orbit (Amsterdam, Netherlands)
2019

Dry eye after Lester Jones tube insertion for epiphora.

Orbit (Amsterdam, Netherlands)
2019

Ocular Complications in PHACE Syndrome: A True Association or a Coincidence?

The Journal of pediatrics
2019

Lacrimal drainage anomalies in Rubinstein-Taybi syndrome: case report and review of literature.

Orbit (Amsterdam, Netherlands)
2018

Plasma gelsolin promotes re-epithelialization.

Scientific reports
2018

Late dacryocystorhinostomy failure from lacrimal sump syndrome with pseudo-sac formation.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2018

The Narrow-Lumen Jones Tube: A Novel Approach to Dry Eye Following Conjunctivodacryocystorhinostomy.

Ophthalmic plastic and reconstructive surgery
2018

Amniotic Band Syndrome: A Review of 2 Cases.

Ophthalmic plastic and reconstructive surgery
2017

External Dacryocystorhinostomy; Success Rate and Causes of Failure in Endoscopic and Pathologic Evaluations.

Iranian journal of pathology
2017

Patterns of ophthalmic emergencies presenting to a referral hospital in Medina City, Saudi Arabia.

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society
2017

Lacrimal drainage anomalies in congenital rubella syndrome.

Clinical ophthalmology (Auckland, N.Z.)
2017

Botulinum neurotoxin injection for the treatment of epiphora in nasolacrimal duct obstruction.

Journal francais d'ophtalmologie
2017

Graft versus host disease: what should the oculoplastic surgeon know?

Current opinion in ophthalmology
2017

Intranasal Tear Neurostimulation: An Emerging Concept in the Treatment of Dry Eye.

International ophthalmology clinics
2017

Image-guided lacrimal drainage surgery in congenital arhinia-microphthalmia syndrome.

Orbit (Amsterdam, Netherlands)
2017

A High Prevalence of Exotropia in Patients With Duane Retraction Syndrome in a Tertiary Eye Care Center in South India.

Journal of pediatric ophthalmology and strabismus
2016

Smad4 in T cells plays a protective role in the development of autoimmune Sjögren's syndrome in the nonobese diabetic mouse.

Oncotarget
2017

Changes in intraocular pressure and tear secretion in patients given 5 mg solifenacin for the treatment of overactive bladder.

International urogynecology journal
2016

Distinguishing computed tomography findings in patients with empty nose syndrome.

International forum of allergy &amp; rhinology
2017

Unilateral Alacrima as a Presenting Symptom of Nasopharyngeal Carcinoma.

Ophthalmic plastic and reconstructive surgery
2016

Rarely Seen Nasal Congenital Problems Causing Neonatal Upper Respiratory Obstruction: A Case Series.

Pediatric reports
2016

[Craniofacial fibrous dysplasia].

La Revue de medecine interne
2016

High-resolution dacryoendoscopy for observation for pediatric lacrimal duct obstruction.

American journal of ophthalmology case reports
2015

Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly.

Indian journal of ophthalmology
2015

Endoscopic Modified Medial Maxillectomy for Resection of an Inverted Papilloma Originating from the Entire Circumference of the Maxillary Sinus.

Case reports in otolaryngology
2015

A Lacrimal Sump Syndrome With a Large Intranasal Ostium.

The Journal of craniofacial surgery
2015

Congenital dacryocystoceles controlled by nCPAP via nasal mask in a neonate.

Pediatrics international : official journal of the Japan Pediatric Society
2015

Change in quality of life of patients undergoing silicone stent intubation for nasolacrimal duct stenosis combined with dry eye syndrome.

The British journal of ophthalmology
2015

The clinical effectiveness of transcanalicular diode laser-assisted revision surgery for failed endoscopic endonasal dacryocystorhinostomy.

The British journal of ophthalmology
2015

[A case of lacrimal duct obstruction caused by capecitabine].

Gan to kagaku ryoho. Cancer &amp; chemotherapy
2015

[Ophthalmological manifestations of Cornelia de Lange syndrome: Case report and review of the literature].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft

Associações

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Comunidades

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Lacrimal drainage system involvement in CHARGE syndrome: a two-case report.
    Orbit (Amsterdam, Netherlands)· 2026· PMID 41700357mais citado
  2. Ophthalmic features of 218 children with Williams syndrome in china: A single-center retrospective study.
    Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie· 2026· PMID 41105201mais citado
  3. Suspected Calvarial Hyperostosis Syndrome Causing Different Ophthalmological Signs in Two Young Labrador Retrievers-Case Report.
    Veterinary ophthalmology· 2026· PMID 39988334mais citado
  4. FGF10/IGSF3 Variants in Bony Congenital Nasolacrimal Duct Obstruction: A Genotype-Phenotype Study of Syndromic Versus Isolated Disease.
    Investigative ophthalmology &amp; visual science· 2025· PMID 41533940mais citado
  5. Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females.
    Turkish archives of pediatrics· 2025· PMID 40094327mais citado
  6. Anti-GQ1b-Positive Miller Fisher Syndrome Following Pfizer Bivalent COVID-19 Vaccination.
    Cureus· 2026· PMID 41994773recente
  7. A review of chronic enterocolitis of rhesus macaques (Macaca mulatta) and potential as a naturally occurring model for post-infectious irritable bowel syndrome.
    Front Vet Sci· 2026· PMID 41994257recente
  8. Ophthalmic manifestations and management of Traboulsi syndrome in three children of a Saudi family.
    Saudi J Ophthalmol· 2026· PMID 41994245recente
  9. Potential mechanisms of the glucocorticoid withdrawal syndrome.
    Eur J Endocrinol· 2026· PMID 41988948recente
  10. Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome with aplasia cutis congenita due to PIK3R2 mutations: case report.
    Transl Pediatr· 2026· PMID 41982962recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:139450(Orphanet)
  2. OMIM OMIM:611863(OMIM)
  3. MONDO:0012739(MONDO)
  4. GARD:10300(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q55783842(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Microtia - coloboma ocular - ducto nasolacrimal imperfurado
Compêndio · Raras BR

Microtia - coloboma ocular - ducto nasolacrimal imperfurado

ORPHA:139450 · MONDO:0012739
Prevalência
<1 / 1 000 000
Casos
1 casos conhecidos
Herança
Autosomal dominant
CID-10
Q13.8 · Outras malformações congênitas da câmara anterior do olho
Início
No data available
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C2678482
Wikidata
Papers 10a
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