Raras
Buscar doenças, sintomas, genes...
Euriblefaron
ORPHA:99172CID-10 · Q10.1CID-11 · LA14.0YDOENÇA RARA
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Euriblefaron é uma condição rara caracterizada por pálpebras anormalmente longas e estreitas, com cantos externos esticados. Isso pode levar a problemas de exposição ocular e ressecamento.

Publicações científicas
46 artigos
Último publicado: 2026 Mar
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q10.1
🇧🇷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
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico46PubMed
Últimos 10 anos17publicações
Pico20255 papers
Linha do tempo
2026Hoje · 2026📈 2025Ano 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

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Euriblefaron

🗺️

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

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

🥉Melhor nível de evidência: Relato de caso
Timeline de publicações
17 papers (10 anos)
#1

Modified Medial Canthoplasty for Correction of Euryblepharon in Two Horses.

Veterinary ophthalmology2026 Mar

To describe a medial canthoplasty surgical procedure in two horses for correction of euryblepharon, secondary to microphthalmia, and following excision of retrobulbar fat prolapse. A 1 year old thoroughbred mare was presented for small globes and chronic ocular discharge bilaterally. Ophthalmic examination revealed microphthalmos, euryblepharon, medial canthal pocket syndrome, and dacryocystitis bilaterally with no visual impairments. A 2 year old Appaloosa gelding was presented for evaluation of a smooth, subconjunctival mass anterior to the right globe in the medial canthus. Ophthalmic examination additionally revealed euryblepharon and mild lower eyelid ectropion. A medial canthoplasty procedure followed by placement of a partial temporary tarsorrhaphy was performed bilaterally on the first horse and on the right side in the second horse. The nasolacrimal puncta were identified and cannulated for the duration of the procedure. The medial canthal eyelid margin was everted and excised just medial to the puncta. The resection site was closed in two layers to restore normal anatomic lid position. On the second horse, the prolapsed retrobulbar fat was excised prior to the shortening blepharoplasty, and the peribulbar tissue and overlying conjunctiva were closed in two layers. Both horses experienced improvement in the clinical signs for which they were presented following surgery. Histopathology results confirmed a retrobulbar fat prolapse. Medial canthoplasty may be an effective technique for improving functional palpebral anatomy in horses with euryblepharon.

#2

Ocular manifestations of trisomy 8 mosaicim: a rare case report.

Ophthalmic genetics2025 Dec

Trisomy 8 mosaicism (T8M) also known as Warkany syndrome 2 is a rare chromosomal disorder characterized by a highly variable phenotypic presentation. Ranging from mild congenital anomalies to life and sight threatening associations. Currently, the most common ophthalmic manifestations are strabismus, hypertelorism, and corneal opacities. Other visually debilitating features include microphthalmia, retinal dystrophy, and optic disc coloboma. We present a case of a 9-year-old male who was referred to our ophthalmology service as a case of strabismus and bilateral ptosis with syndromic facial features of a protruded jaw, low set ears, and wide nasal bridge, and was later confirmed with cytogenetic analysis of T8M. To the best of our knowledge, this is the first reported case of T8M in our region, and the first to present euryblepharon as an associated ophthalmic manifestation, in addition to providing an updated review of the most commonly and newly documented manifestations of T8M. The phenotypic variation of T8M is diverse and often unpredictable, ranging from mild ocular findings to visually debilitating manifestations. Comprehensive awareness of its ophthalmic features can aid ophthalmologists in early recognition and appropriate genetic evaluation and counseling.

#3

Oculoplastic Operative Considerations for Kabuki Syndrome: A Case Report and Review of the Literature.

Ophthalmic plastic and reconstructive surgery2025

Kabuki syndrome is a rare genetic disease with multisystemic effects including ocular manifestations. The authors report a patient with known Kabuki syndrome who presented with bilateral euryblepharon, bilateral ptosis, OD hypotropia, and blue sclera. A bilateral lateral tarsal strip procedure was performed followed by a left frontalis sling with a silicone implant and a right external levator advancement with success. Two hours after the case conclusion, the patient developed a right upper eyelid hematoma. The hematoma was emergently expressed, and the wound was cauterized and sutured. On careful review of prior labs, the patient may have had chronic immune thrombocytopenia, a known comorbidity of Kabuki syndrome. This report not only describes a novel pathogenic variant in KMT2D causing Kabuki syndrome, but also details the surgical approaches to congenital ptosis, underscores the bleeding risk in patients with Kabuki syndrome, and reviews the approach to perioperative hematoma management.

#4

A Novel Surgical Technique Involving Bone Fixation Canthoplasty, Middle Lamellar Recession, and Mucograft Spacer in Treating Patients With Euryblepharon.

Ophthalmic plastic and reconstructive surgery2025

Euryblepharon is a rare congenital eyelid malformation characterized by symmetrical horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension. The lateral canthus is most commonly affected. It can be isolated or associated with other anomalies and it is unclear what causes this appearance. Conservative treatment is the mainstay of treatment; however, in some severe cases, surgery is necessary. Surgery has been reported with varying degrees of success with failure of the resolution of the functional or cosmetic elements. In a retrospective case review, 7 patients were identified with euryblepharon. Some had mild changes and were asymptomatic with no concerns regarding the appearance of their eyelids, while others suffered from ocular irritation and dry eyes and were bothered by the cosmesis. Three opted to go ahead with surgery as they found conservative measures to be unsatisfactory. For those patients who opted for surgery, the authors performed lower eyelid bone fixation canthoplasty with septoretractor recession with or without a mucograft spacer. This technique corrected both their functional and cosmetic elements. The success in normalizing the lower lid position and contour without skin augmentation suggests that the underlying pathology is related to middle lamellar retraction and lateral canthal dystopia rather than skin deficiency. This new technique corrects both the functional and aesthetic issues without compromising on either element which has been the case in previous studies. It is also tissue-sparing and can be done as a day-case procedure.

#5

Periocular manifestations of blepharocheilodontic syndrome and their management: case series and literature review.

Orbit (Amsterdam, Netherlands)2025 Aug

Blepharocheilodontic (BCD) syndrome is a rare condition with eyelid ectropion, euryblepharon, lagophthalmos, congenital cleft lip/palate, and oligodontia. BCD syndrome is an autosomal dominant inherited disorder and has multiple associations with systemic diseases. We present three new cases of BCD syndrome and a literature review of the periocular manifestations of BCD and their management. A multi-institutional retrospective case series of patients with BCD syndrome. Clinical characteristics, imaging findings, surgical management, and outcomes were analysed. Further, a comprehensive review of the literature identified all previously published cases of BCD syndrome. Three cases of BCD syndrome in children with autosomal dominant inheritance were included. Periocular manifestations in BCD syndrome include lower lid ectropion, euryblepharon, and lagophthalmos. Systemic manifestations including cleft lip or palate and dental abnormalities were also observed. Multiple surgical procedures including lateral canthoplasty, tarsorrhaphy, and midface augmentation may be necessary for correction of eyelid malposition and achieving cosmetic and functional improvements. BCD syndrome presents with a spectrum of periocular manifestations requiring multidisciplinary management. Children that present with cleft lip and palate, dental, and eyelid abnormalities should be suspected to have BCD syndrome. Surgical management of the eyelid in BCD remains challenging. Ophthalmologists should be aware of BCD syndrome and its systemic associations.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC16 artigos no totalmostrando 17

2026

Modified Medial Canthoplasty for Correction of Euryblepharon in Two Horses.

Veterinary ophthalmology
2025

Ocular manifestations of trisomy 8 mosaicim: a rare case report.

Ophthalmic genetics
2025

Oculoplastic Operative Considerations for Kabuki Syndrome: A Case Report and Review of the Literature.

Ophthalmic plastic and reconstructive surgery
2025

A Novel Surgical Technique Involving Bone Fixation Canthoplasty, Middle Lamellar Recession, and Mucograft Spacer in Treating Patients With Euryblepharon.

Ophthalmic plastic and reconstructive surgery
2025

Periocular manifestations of blepharocheilodontic syndrome and their management: case series and literature review.

Orbit (Amsterdam, Netherlands)
2025

Coronofrontal rhytidectomy: A new approach for the treatment of severe pseudoptosis and superior entropion in dogs.

Veterinary ophthalmology
2024

Surgical Management of Overgrowth Syndrome With Bilateral Vision-Threatening Ptosis.

Ophthalmic plastic and reconstructive surgery
2024

Congenital ectropion in Noonan syndrome.

Archivos de la Sociedad Espanola de Oftalmologia
2023

Concurrent Presentation of Euryblepharon and Moyamoya Syndrome in Costello Syndrome: A Rare Clinical Case.

Cureus
2022

Tessier cranio-facial clefts presenting to a tertiary eye care center in Northern India: Ophthalmic features and a review of management.

Indian journal of ophthalmology
2021

Asyndromic isolated unilateral Tessier cleft 8 with euryblepharon.

BMJ case reports
2022

Eyelid Reconstruction and Infraorbital Repair Using a Mustardé Flap Technique in a Dog.

Topics in companion animal medicine
2020

Corneoconjunctival transposition for the treatment of deep stromal to full-thickness corneal defects in dogs: A multicentric retrospective study of 100 cases (2012-2018).

Veterinary ophthalmology
2019

MEN 2B masquerading as chronic blepharitis and euryblepharon.

Orbit (Amsterdam, Netherlands)
2018

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

European journal of human genetics : EJHG
2018

Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature.

Ophthalmic genetics
2017

Corneal grafting for the treatment of full-thickness corneal defects in dogs: a review of 50 cases.

Veterinary ophthalmology

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Euriblefaron.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Euriblefaron

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ainda não achamos doenças com sintomas parecidos o suficiente.

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. Modified Medial Canthoplasty for Correction of Euryblepharon in Two Horses.
    Veterinary ophthalmology· 2026· PMID 41795230mais citado
  2. Ocular manifestations of trisomy 8 mosaicim: a rare case report.
    Ophthalmic genetics· 2025· PMID 41184213mais citado
  3. Oculoplastic Operative Considerations for Kabuki Syndrome: A Case Report and Review of the Literature.
    Ophthalmic plastic and reconstructive surgery· 2025· PMID 39718141mais citado
  4. A Novel Surgical Technique Involving Bone Fixation Canthoplasty, Middle Lamellar Recession, and Mucograft Spacer in Treating Patients With Euryblepharon.
    Ophthalmic plastic and reconstructive surgery· 2025· PMID 39704292mais citado
  5. Periocular manifestations of blepharocheilodontic syndrome and their management: case series and literature review.
    Orbit (Amsterdam, Netherlands)· 2025· PMID 39442179mais citado

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:99172(Orphanet)
  2. MONDO:0020464(MONDO)
  3. GARD:19674(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55789404(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

Compêndio · Raras BR

Euriblefaron

ORPHA:99172 · MONDO:0020464
CID-10
Q10.1 · Ectrópio congênito
CID-11
Início
Neonatal
MedGen
UMLS
C1303001
EuropePMC
Wikidata
Papers 10a
Evidência
🥉 Relato de caso
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades