Raras
Buscar doenças, sintomas, genes...
Anquiloblefaron filiforme adnatum isolado
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Esta é uma lista de doenças que começam com a letra "A".

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
Europe
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q10.3
🇧🇷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
Últimos 10 anos10publicações
Pico20153 papers
Linha do tempo
2026Hoje · 2026📈 2015Ano 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 — Anquiloblefaron filiforme adnatum isolado

🗺️

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

Timeline de publicações
0 papers (10 anos)
#1

Bilateral Ankyloblepharon Filiforme Adnatum: A Case Report Highlighting the Importance of Early Recognition and Treatment.

Cureus2026 Feb

Ankyloblepharon filiforme adnatum (AFA) is a rare congenital anomaly characterized by bands of tissue connecting the upper and lower eyelids, which can lead to visual deprivation and subsequent amblyopia if left untreated. We report a case of a one-month-old girl who presented with bilateral eyelid adhesions causing restricted eyelid opening. The patient was born at 39 weeks of gestation with no prenatal complications. Physical examination revealed tissue bands connecting the eyelids bilaterally, with more severe restriction on the left side. Comprehensive systemic evaluation ruled out associated syndromic conditions, confirming isolated AFA. Due to the risk of deprivation amblyopia during the critical period of visual development, surgical separation of the eyelid adhesions was performed under general anesthesia at three months of age using electrocautery. Histopathological examination confirmed keratinized stratified squamous epithelium. Postoperatively, significant hyperopia and anisometropia were noted, which showed a myopic shift at two-month follow-up. Both eyelids remained well separated with good fixation and tracking in both eyes. This case emphasizes the critical importance of early recognition and prompt surgical intervention in AFA to prevent visual developmental complications. Timely management is essential to avoid stimulus deprivation amblyopia and ensure optimal visual outcomes, particularly in bilateral or extensive cases where the risk of visual impairment is heightened.

#2

Ankyloblepharon filiforme adnatum in a preterm neonate: a case report highlighting early recognition and surgical management.

Journal of surgical case reports2025 Oct

Ankyloblepharon filiforme adnatum (AFA) is a rare congenital anomaly characterized by fine bands of tissue connecting the upper and lower eyelids, potentially obstructing vision if left untreated. We report a case of a preterm male neonate born at 33 weeks and 4 days of gestation via emergency cesarean section due to maternal preeclampsia. On examination, the infant had bilateral eyelid fusion consistent with AFA, confirmed by ophthalmologic evaluation. Surgical division of the adhesions was performed under general anesthesia with no complications. Postoperative recovery was uneventful, and follow-up confirmed clear corneas and normal ocular structures. This case highlights the importance of early recognition and prompt surgical management of AFA to prevent visual deprivation, particularly in preterm infants. It also underscores the need to assess for possible syndromic associations, although this case appeared isolated. Awareness of AFA among neonatologists and ophthalmologists can support timely diagnosis and intervention.

#3

Ankyloblepharon Filiforme Adnatum in a 3-day-old Neonate: A Case Report.

Sisli Etfal Hastanesi tip bulteni2023

Ankyloblepharon filiforme adnatum (AFA) is a rare congenital anomaly consisting of partial or complete fusion of the eyelid margins. It is usually isolated and benign, but its presence should alert the neonatologist as it may rarely be associated with other disorders. We present a case of a 3-day-old newborn presenting with isolated AFA at birth.

#4

Isolated Ankyloblepharon Filiforme Adnatum: A Case Report.

Journal of the West African College of Surgeons2022

Ankyloblepharon filiforme adnatum (AFA) is a rare congenital anomaly consisting of partial or complete adhesion of the upper and lower eyelids, and it can be an isolated finding, or associated with other multisystemic anomalies. Its presence should alert the neonatologist of the need for a detailed systemic evaluation. We present a twenty day old baby who presented to our facility on the 8th of August 2019, with bilateral adhesions of the upper and lower eyelids, and had them excised with the use of McPherson's forceps and Vannas scissors, with no sedation or anesthesia. Timely separation of the lids is important to prevent the onset of stimulus deprivation amblyopia.

#5

Simple surgical approach for treatment of ankyloblepharon filiforme adnatum: A case report.

Nigerian journal of clinical practice2022 Feb

Ankyloblepharon flliforme adnatum (AFA) is a rare congenital abnormality of the eyelids. Upper and lower eyelids are joined by single or multiple bands. It is usually isolated but can be associated with ophtalmic and systemic diseases. AFA is potentially amblyopic condition. Treatment is quick, safe, and minimizes the risk of amblyopia. We report a case of newborn with isolated AFA at birth, treated by surgical excision of the band tissue. 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. The diagnosis of a TP63-related disorder is established in a proband with suggestive findings and a heterozygous pathogenic variant in TP63 identified by molecular genetic testing. Treatment of manifestations: A multidisciplinary team of specialists in clinical genetics, dermatology, ophthalmology, otolaryngology, audiology, dentistry and prosthodontics, plastic surgery, nutrition/gastroenterology, and psychology is recommended. Skin erosions are treated with gentle wound care and periodic, dilute bleach soaks to prevent secondary infection, and infants with severe skin erosions are monitored and treated aggressively for dehydration, electrolyte imbalances, malnutrition, and infection. Wigs can be used for sparse hair and alopecia; dentures may be considered in early childhood and dental implants in the teens or early adulthood. Cleft lip/palate is managed per routine protocols; limb malformations are treated with occupational therapy and surgery as needed to optimize function. Surveillance: Regular attention to dental needs and possible hearing loss. The TP63-related disorders are inherited in an autosomal dominant manner. Approximately 30% of individuals diagnosed with a TP63-related disorder have an affected parent. The proportion of individuals with a TP63-related disorder caused by a de novo TP63 pathogenic variant is approximately 70%. If a parent of the proband is affected and/or is known to have the pathogenic variant identified in the proband, the risk to the sibs is 50%. Once the TP63 pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Anquiloblefaron filiforme adnatum isolado.

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 Anquiloblefaron filiforme adnatum isolado

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. Bilateral Ankyloblepharon Filiforme Adnatum: A Case Report Highlighting the Importance of Early Recognition and Treatment.
    Cureus· 2026· PMID 41798564mais citado
  2. Ankyloblepharon filiforme adnatum in a preterm neonate: a case report highlighting early recognition and surgical management.
    Journal of surgical case reports· 2025· PMID 41070209mais citado
  3. Ankyloblepharon Filiforme Adnatum in a 3-day-old Neonate: A Case Report.
    Sisli Etfal Hastanesi tip bulteni· 2023· PMID 37899812mais citado
  4. Isolated Ankyloblepharon Filiforme Adnatum: A Case Report.
    Journal of the West African College of Surgeons· 2022· PMID 36388742mais citado
  5. Simple surgical approach for treatment of ankyloblepharon filiforme adnatum: A case report.
    Nigerian journal of clinical practice· 2022· PMID 35170449mais citado

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:91397(Orphanet)
  2. MONDO:0019626(MONDO)
  3. GARD:19168(GARD (NIH))
  4. Q56014334(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

Anquiloblefaron filiforme adnatum isolado
Compêndio · Raras BR

Anquiloblefaron filiforme adnatum isolado

ORPHA:91397 · MONDO:0019626
Prevalência
<1 / 1 000 000
Herança
Autosomal dominant, Not applicable
CID-10
Q10.3 · Outras malformações congênitas das pálpebras
CID-11
Início
Infancy, Neonatal
Prevalência
0.0 (Europe)
MedGen
UMLS
C1302999
EuropePMC
Wikidata
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades