Raras
Buscar doenças, sintomas, genes...
Microtia
ORPHA:83463CID-10 · Q17.2CID-11 · LA22.0OMIM 600674DOENÇA RARA

Malformação congênita da orelha externa, observada com mais frequência em homens, que ocorre esporadicamente ou é hereditária, caracterizada por aurículas unilaterais (79-93% dos casos, 60% dos quais envolvem a orelha direita) ou bilaterais, pequenas e de formato anormal e que estão frequentemente associadas a atresia ou estenose do canal auditivo, distúrbios de déficit de atenção e atraso no desenvolvimento da linguagem. A variação no tamanho da orelha varia do grau I, onde a orelha é simplesmente menor que o normal, até o grau IV, também conhecido como anotia, onde há ausência completa da orelha externa e do conduto auditivo.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Malformação congênita da orelha externa, observada com mais frequência em homens, que ocorre esporadicamente ou é hereditária, caracterizada por aurículas unilaterais (79-93% dos casos, 60% dos quais envolvem a orelha direita) ou bilaterais, pequenas e de formato anormal e que estão frequentemente associadas a atresia ou estenose do canal auditivo, distúrbios de déficit de atenção e atraso no desenvolvimento da linguagem. A variação no tamanho da orelha varia do grau I, onde a orelha é simplesmente menor que o normal, até o grau IV, também conhecido como anotia, onde há ausência completa da orelha externa e do conduto auditivo.

Pesquisas ativas
8 ensaios
33 total registrados no ClinicalTrials.gov
Publicações científicas
2.078 artigos
Último publicado: 2026 Apr 14

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-5 / 10 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
38.0
Specific population
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q17.2
🇧🇷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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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

Características mais comuns

100%prev.
Microtia
90%prev.
Deficiência auditiva condutiva unilateral
Muito frequente (99-80%)
55%prev.
Atraso no desenvolvimento da fala e da linguagem
Frequente (79-30%)
55%prev.
Atresia do canal auditivo externo
Frequente (79-30%)
55%prev.
Anotia
Frequente (79-30%)
55%prev.
Hélice hipoplásica
Frequente (79-30%)
11sintomas
Muito frequente (2)
Frequente (5)
Ocasional (2)
Sem dados (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 11 características clínicas mais associadas, ordenadas por frequência.

Microtia
Muito frequente100%
Deficiência auditiva condutiva unilateralUnilateral conductive hearing impairment
Muito frequente (99-80%)90%
Atraso no desenvolvimento da fala e da linguagemDelayed speech and language development
Frequente (79-30%)55%
Atresia do canal auditivo externoAtresia of the external auditory canal
Frequente (79-30%)55%
Anotia
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico2.078PubMed
Últimos 10 anos200publicações
Pico2025134 papers
Linha do tempo
2026Hoje · 2026🧪 2009Primeiro ensaio clínico📈 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

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, Not applicable.

HOXA2Homeobox protein Hox-A2Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (2)
Regulation of expression of SLITs and ROBOsActivation of anterior HOX genes in hindbrain development during early embryogenesis
MECANISMO DE DOENÇA

Microtia, hearing impairment, and cleft palate

A disease characterized by microtia, mixed symmetric severe to profound hearing impairment, and partial cleft palate. Microtia is a congenital deformity of the outer ear that is small and abnormally shaped. In classic microtia, the pinna is essentially absent, except for a vertical sausage-shaped skin remnant. The superior aspect of this sausage-shaped skin remnant consists of underlying unorganized cartilage, and the inferior aspect of this remnant consists of a relatively well-formed lobule. Syndromic forms of microtia occur in conjunction with other abnormalities including cleft palate, a congenital fissure of the soft and/or hard palate due to faulty fusion.

EXPRESSÃO TECIDUAL(Tecido-específico)
Fallopian Tube
10.3 TPM
Aorta
8.9 TPM
Brain Spinal cord cervical c-1
8.4 TPM
Esôfago - Junção
8.2 TPM
Útero
8.1 TPM
OUTRAS DOENÇAS (2)
bilateral microtia-deafness-cleft palate syndromemicrotia
HGNC:5103UniProt:O43364

Variantes genéticas (ClinVar)

40 variantes patogênicas registradas no ClinVar.

🧬 HOXA2: GRCh37/hg19 7p22.3-14.3(chr7:158725-29918785)x3 ()
🧬 HOXA2: GRCh37/hg19 7p21.2-15.2(chr7:16417575-27541028)x3 ()
🧬 HOXA2: NM_006735.4(HOXA2):c.251del (p.Pro84fs) ()
🧬 HOXA2: NM_006735.4(HOXA2):c.98A>G (p.Gln33Arg) ()
🧬 HOXA2: NM_006735.4(HOXA2):c.271C>T (p.Gln91Ter) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 81 variantes classificadas pelo ClinVar.

53
28
Patogênica (65.4%)
VUS (34.6%)
VARIANTES MAIS SIGNIFICATIVAS
FGF3: NM_005247.4(FGF3):c.63del (p.Ala23fs) [Pathogenic]
FGF3: NM_005247.4(FGF3):c.517C>T (p.Gln173Ter) [Likely pathogenic]
FGF3: NM_005247.4(FGF3):c.470T>C (p.Val157Ala) [Likely pathogenic]
FGF3: NM_005247.4(FGF3):c.323C>T (p.Ser108Leu) [Conflicting classifications of pathogenicity]
FGF3: NM_005247.4(FGF3):c.220+1G>A [Likely pathogenic]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

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.
2Fase 25
1Fase 11
·Pré-clínico14
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 20 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Microtia

🗺️

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

🟢 Recrutando agora

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

Outros ensaios clínicos

33 ensaios clínicos encontrados, 8 ativos.

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

🥉Melhor nível de evidência: Relato de caso
Timeline de publicações
1.175 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 1.175

#1

Genetic variation near ROBO1 is associated with craniofacial microsomia and related phenotypes in the Finnish population.

Human molecular genetics2026 Mar 23

Este estudo genético, realizado na população finlandesa, identificou uma variação genética significativa próxima ao gene ROBO1 como fortemente associada à microssomia craniofacial (CFM), condição que inclui desde a microtia (malformação da orelha) até síndromes mais complexas. Para pacientes e médicos, essa descoberta é crucial, pois avança a compreensão das causas genéticas dessas condições, indicando que alterações nesta região genética podem impactar o desenvolvimento precoce da face e do sistema auditivo. Isso reforça a base genética comum entre as malformações faciais e os problemas auditivos, podendo auxiliar no aconselhamento genético e no manejo clínico.

🇧🇷 traduzido
#2

Vibrant Soundbridge and Porous Polyethylene Auricular Reconstruction in a Single‑Stage Procedure.

Science progress2026

Este artigo apresenta uma abordagem cirúrgica inovadora para microtia com atresia, que combina a reconstrução auricular com polietileno poroso (Medpor) e a implantação do Vibrant Soundbridge para reabilitação auditiva em **um único procedimento**. Para pacientes e médicos, isso representa uma grande vantagem ao evitar múltiplas cirurgias, oferecendo excelentes resultados cosméticos e uma melhora significativa da audição, conforme demonstrado com sucesso em um caso de adolescente. Este método promete ser uma solução mais eficiente e menos onerosa para a condição.

🇧🇷 traduzido
#3

A Meier-Gorlin syndrome mutation impairs the loading of the MCM2-7 complex during DNA replication initiation.

Proceedings of the National Academy of Sciences of the United States of America2026 Feb 24

Este estudo revela que mutações em proteínas como a MCM3, associadas à síndrome de Meier-Gorlin (uma condição genética que pode causar Microtia), prejudicam o início da replicação do DNA nas células. A pesquisa identificou um "mecanismo de trava" essencial na proteína MCM3 que, quando defeituoso devido a essas mutações, impede que o maquinário de cópia do DNA funcione corretamente. Entender esse defeito molecular fundamental aprofunda o conhecimento sobre a doença e abre caminhos para identificar potenciais alvos para futuras abordagens terapêuticas.

🇧🇷 traduzido
#4

Safety and efficacy of connecting the residual ear to the cartilage scaffold in the first-stage versus second-stage surgery: a protocol of a randomised controlled trial in non-expanded auricular reconstruction for concha-type microtia.

BMJ open2026 Feb 04

Este estudo aborda a reconstrução auricular para microtia tipo concha, questionando se a conexão da orelha residual ao arcabouço de cartilagem de costela deve ser feita na primeira ou segunda etapa da cirurgia de dois estágios. Um ensaio clínico randomizado com 78 pacientes será realizado para comparar essas abordagens, hipotetizando que a conexão na segunda etapa pode reduzir riscos operatórios e melhorar a recuperação. O objetivo é determinar a estratégia mais segura e eficaz para pacientes e cirurgiões, avaliando a cicatrização, complicações, qualidade da cicatriz e o benefício geral ao paciente.

🇧🇷 traduzido
#5

Hearing rehabilitation in patients with Treacher Collins syndrome.

Acta oto-laryngologica2026 Apr 08

Para pacientes com Síndrome de Treacher Collins, que frequentemente apresentam perda auditiva condutiva bilateral e anomalias craniofaciais, este estudo conclui que os aparelhos auditivos de condução óssea (BCHA) são a intervenção auditiva preferencial. Eles proporcionam melhorias significativas na audição e no reconhecimento da fala; contudo, para médicos, é crucial considerar as complexas variações anatômicas e o sucesso limitado de cirurgias reconstrutivas (canalplastia e timpanoplastia) na melhora auditiva em casos de estenose com colesteatoma.

🇧🇷 traduzido

Publicações recentes

Ver todas no PubMed

📚 EuropePMC1.085 artigos no totalmostrando 196

2026

Quantifying 3D Shape in Microtia Reconstruction Using 3D Surface Scanning: A Pilot Phantom-and-Case Study.

Facial plastic surgery &amp; aesthetic medicine
2026

CRABP2 upregulation in perichondral stem cells is associated with microtia.

BMC medical genomics
2026

Reconstruction of microtia with crus helicis transversal deformity using flap technique combined with ear cartilage transplantation: a retrospective study.

Maxillofacial plastic and reconstructive surgery
2026

Genetic variation near ROBO1 is associated with craniofacial microsomia and related phenotypes in the Finnish population.

Human molecular genetics
2026

Hearing rehabilitation in patients with Treacher Collins syndrome.

Acta oto-laryngologica
2026

Eliminating Post-Operative Pain with Intercostal Nerve Cryoablation during Rib Cartilage Harvest for Total Microtia Construction.

Plastic and reconstructive surgery
2026

[Genetic analysis of a de novo EFTUD2 variant causing Mandibulofacial dysostosis with microcephaly in a fetus].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2026

Advances in prenatal ultrasound diagnosis of fetal tympanic ring anomalies.

Frontiers in medicine
2026

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early-Onset Monogenic Disorders.

Prenatal diagnosis
2026

The Influence Pathway of the Burden on Caregivers of Children With Congenital Ear Malformations: An Analysis of the Mediating Effects of Social Support and Coping Mechanisms.

The Journal of craniofacial surgery
2026

Usage patterns in children receiving an active osseointegrated bone conduction implant.

International journal of pediatric otorhinolaryngology
2026

Reconstruction of Concha-Type Microtia Using a Crescent Costal Framework and Residual Auricular Cartilage.

Journal of otolaryngology - head &amp; neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale
2026

Allogeneic Microtia Reconstruction as a Step in the Auricular Reconstructive Ladder: Personal Technique Using Interlocking Subunit Templates.

The Journal of craniofacial surgery
2026

Microtia is a 'part of me': a qualitative investigation into the family and child's experience of microtia and hearing loss.

International journal of audiology
2026

Bilateral Congenital Stapes Footplate Fixation With Absence of the Stapedial Tendon.

The Permanente journal
2026

Vibrant Soundbridge and Porous Polyethylene Auricular Reconstruction in a Single‑Stage Procedure.

Science progress
2025

Development of decellularized mouse auricular scaffolds using sodium dodecyl sulfate immersion-agitation for microtia tissue engineering.

Narra J
2026

A Meier-Gorlin syndrome mutation impairs the loading of the MCM2-7 complex during DNA replication initiation.

Proceedings of the National Academy of Sciences of the United States of America
2026

Clinical Salvage Approaches for Surgical Site Infection After Autologous Microtia Reconstruction.

Journal of clinical medicine
2026

Optimizing Neonatal Ear Molding: Are Commercial Systems Superior to Classic Methods?

The Laryngoscope
2026

Analysis of Eya1 and Tbx1 mutants highlights interactions between the muscle and developing cartilage during external ear formation.

Development (Cambridge, England)
2026

Current Evidence of the Effect of Breastfeeding on Ear Molding Outcomes: A Scoping Review.

The Laryngoscope
2026

Safety and efficacy of connecting the residual ear to the cartilage scaffold in the first-stage versus second-stage surgery: a protocol of a randomised controlled trial in non-expanded auricular reconstruction for concha-type microtia.

BMJ open
2026

3D bioprinted composite scaffold incorporating microfluidics-derived chondrocyte microspheroids promotes auricular cartilage regeneration.

Materials today. Bio
2026

[Research advance on the clinical phenotypes and molecular genetic mechanisms of Microcephalic primordial dwarfism].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2026

Molecular diagnosis of rare biallelic CDC45 gene variants causing Meier-Gorlin syndrome-7 using whole exome sequencing.

Human genomics
2026

Outcomes of Osia 2 Implantation With and Without Concurrent Microtia Reconstruction.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
2026

Meier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2026

[Clinical efficacy of two-stage ear reconstruction using autologous rib cartilage in the correction of congenital microtia].

Zhonghua shao shang yu chuang mian xiu fu za zhi
2026

[Refined surgical protocol and clinical efficacy of total expansion auricular reconstruction surgery].

Zhonghua shao shang yu chuang mian xiu fu za zhi
2026

Costal cartilage tissue regeneration after the modified first-stage autologous ear reconstruction for microtia: A retrospective study.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2025

A Case of FAM111A-Associated Kenny-Caffey Syndrome Type 2 with New Clinical Features: Microtia, Lacunar Skull Appearance, and Arnold-Chiari Malformation.

Molecular syndromology
2026

Craniofacial Prosthetic Reconstruction: A 25-Year Anaplastology Experience.

The Journal of craniofacial surgery
2026

Cholesteatoma in concha-type microtia.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2025

Patient Specific 3D-printed Surgical Guides for Autologous Auricular Reconstruction: The "Robert-Houdin Auricle Box" Concept.

The Journal of craniofacial surgery
2025

How Important is the Tragus in Ear Reconstruction? An Eye-Tracking Study.

Facial plastic surgery &amp; aesthetic medicine
2026

Molecular impacts of Meier-Gorlin syndrome mutations on human origin licensing.

The Journal of biological chemistry
2025

Concurrent One-Stage Polyethylene Ear Reconstruction and Bone Conduction Hearing Device Placement: A Novel Technique and Case Series.

Plastic and reconstructive surgery
2025

Postoperative Cutaneous Sensory Recovery After Different Surgical Approaches for Microtia and Ear Reconstruction.

Plastic and reconstructive surgery. Global open
2025

Innovative tissue engineering strategies for auricular regeneration in microtia: Current advances and future perspectives.

Regenerative therapy
2025

Patient and guardian perspectives on tissue engineering in microtia reconstruction.

PloS one
2026

Progress in Auricular Reconstruction Techniques: A Review.

Annals of plastic surgery
2025

A New Case of Nager Syndrome as a Rare Cause of Acrofacial Dysostosis.

Molecular syndromology
2026

Multidisciplinary care improves hearing intervention rates in children with microtia.

International journal of pediatric otorhinolaryngology
2025

Do Long-term Thoracic Adaptations Occur in Pediatric Microtia Patients After Costal Cartilage Harvesting?

Plastic and reconstructive surgery
2026

Ear Remnant Incision Expander Method for Conchal-Type Microtia: A 10-Year Study.

Annals of plastic surgery
2026

A modified two-stage ear reconstruction with integrated correction: Reduced cartilage harvest and operative time for bilateral microtia.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2025

Novel 3D-printed aids for total ear reconstruction.

3D printing in medicine
2025

Anxiety, depression, and HRQoL in pediatric microtia patients following ear reconstruction: a cross-sectional study.

Frontiers in psychiatry
2026

Temporal bone and multisystem phenotypic stratification in oculo-auriculo-vertebral spectrum using high-resolution CT: Correlation with tasse severity score.

European journal of radiology
2025

Association between maternal occupation as a cleaner/maid/janitor during early pregnancy and selected birth defects in the National Birth Defects Prevention Study.

Occupational and environmental medicine
2025

Vascular Anatomy of the Temporoparietal Fascia in Microtia: A Computed Tomographic Angiographic Analysis of 172 Patients.

Plastic and reconstructive surgery
2025

Clinical Application of Auricular Cartilage Expansion Technique for Conchal-Type Microtia Repair in the Xizang Autonomous Region.

The Journal of craniofacial surgery
2025

Utility of Large Language Models for Congenital Microtia Reconstruction Education: Comparison of the Performance of Claude, GPT, and Gemini.

Aesthetic plastic surgery
2025

"Association Between Ear Position in Microtia and Middle Ear Development in 3D CT Imaging.".

Plastic and reconstructive surgery
2025

"Hybrid Auricular Framework of Autologous Rib and Ear Cartilage for Microtia Reconstruction via a Preauricular Incision".

Plastic and reconstructive surgery
2025

A Critical Assessment of the Readability and Ethnic Inclusivity of Online Patient Materials for Microtia.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Skin incision strategy in porous polyethylene-based microtia reconstruction: A novel subtype-specific algorithm.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2025

The use of the acellular dermal matrix in microtia reconstruction to decrease donor site morbidity after temporo-parietal fascia harvest.

Journal of pediatric surgery
2025

Anesthetic management in a child with Meier-Gorlin syndrome: a case report.

BMC anesthesiology
2025

Non-recurrent duplications on chromosome 4p16.1 involving cis-regulatory elements affecting neural crest development in patients with isolated bilateral microtia.

Human genetics
2026

Augmented Reality and 3D Printing as an Aid to Surgical Planning in Modern Microtia Reconstruction.

The Journal of craniofacial surgery
2025

The Differentially Expressed Genes That Are Associated With Autophagy in Microtia.

The Journal of craniofacial surgery
2026

Optimizing Microtia Results in Alloplastic Ear Reconstruction.

The Laryngoscope
2025

Case report of a novel GREB1L gene mutation in a patient with branchio-oto-renal syndrome.

Journal of otology
2025

Audiologic and reconstructive microtia management: Comparison of otolaryngology and plastic surgery.

International journal of pediatric otorhinolaryngology
2025

A Novel Premature Termination Codon Mutation in TRAPPC2 Is Associated with X-Linked Spondyloepiphyseal Dysplasia Tarda.

Molecular syndromology
2025

The Great Escape: A Case Series on DDX3X Craniofacial Phenotypes in Females.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

A Predictive Model for Size-Specific Temporoparietal Fascia Flap Planning in Porous Polyethylene-Based Auricular Reconstruction.

The Journal of craniofacial surgery
2026

Evaluating the Reliability and Readability of AI Chatbot Responses for Microtia Patient Education.

The Journal of craniofacial surgery
2025

Case Report: A novel heterozygous variant of the TCOF1 gene in Treacher Collins syndrome.

Frontiers in pediatrics
2025

Subcutaneous pedicle island flap for complex congenital earlobe cleft correction.

International journal of oral and maxillofacial surgery
2025

Two-dimensional and three-dimensional ultrasonographic diagnosis of congenital auricular anomalies.

Frontiers in medicine
2025

Innovative Approaches in Microtia Treatment: Advancements in Tissue Engineering and Scaffold Design.

Annals of biomedical engineering
2025

Advanced Care for Management of Microtia Using a Two-Stage Autologous Costal Cartilage Technique for Auricular Reconstruction: Surgical Method, Outcomes, and Future Directions.

The Journal of craniofacial surgery
2025

Endoscopic-Assisted Harvest of Temporoparietal Fascia Flap Through a Single Incision for Single-Stage Auricular Reconstruction With Porous Polyethylene Framework: How I Do It.

The Journal of craniofacial surgery
2025

Our Evolved Technique for Microtia Reconstruction: An Advanced Form of the Yotsuyanagi Method.

The Journal of craniofacial surgery
2025

Unexpected molecular mechanism of Orc6-based Meier-Gorlin syndrome: insights from a humanized Drosophila model.

Genetics
2025

Analytical Study of Microtia Risk Factors in Indonesia.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Microtia Construction: Secondary Cases.

The Journal of craniofacial surgery
2025

Microtia Reconstruction With Costal Cartilage: How I do it?

The Journal of craniofacial surgery
2026

Efficacy Analysis of Ear Molding Correction for Congenital Auricular Deformities at Different Ages.

Aesthetic plastic surgery
2025

Microtia Ear Reconstruction: Low Hairline Cases.

The Journal of craniofacial surgery
2025

Personal Experience in Microtia Reconstruction.

The Journal of craniofacial surgery
2025

Microtia Reconstruction: Virgin Cases-Technical Details.

The Journal of craniofacial surgery
2025

Use of Allogeneic Rib Cartilage for Microtia Repair: Preliminary Data on a Single Institutional Experience.

The Journal of craniofacial surgery
2025

Microtia Construction: Creating an External Organ.

The Journal of craniofacial surgery
2025

[Study on the diagnostic value of fetal magnetic resonance imaging of external ear abnormalities].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery
2025

Using Preauricular Rotation Flaps to Repair Cartilage Exposure in the Triangular Fossa Area After Ear Reconstruction: Clinical Techniques and Evaluation.

Annals of plastic surgery
2026

Fabrication and characterization of PVA/Collagen/Gelatin scaffold for microtia reconstruction.

Journal of biomaterials applications
2025

[Novel PAX1 mutation identified in autosomal dominant otofaciocervical syndrome 2 with new phenotypes].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery
2025

Two-Staged Microtia Reconstruction With Autologous Rib Cartilage: A 25-Year Experience.

The Journal of craniofacial surgery
2026

Impact of Early Intervention on Children with Congenital Conductive Hearing Loss: Role of Active Transcutaneous Bone Conduction Implants.

Audiology &amp; neuro-otology
2025

IL-6 signaling is required for the development and regeneration of ear cartilage in microtia.

Frontiers in cell and developmental biology
2025

Risk Factors in the Formation of Congenital Malformations of the Ear: Microtia and Atresia of the External Auditory Canal.

Journal of clinical medicine research
2025

A Novel Missense Mutation in the FGF3 Gene of a Chinese Patient with LAMM Syndrome.

Biochemical genetics
2025

Implantable bone conduction devices enhance functional ear reconstruction in patients with pediatric microtia.

Frontiers in pediatrics
2025

A novel incision design for Vibrant SoundBridge®︎ implantation prior to auricular reconstruction for microtia.

PloS one
2025

A Rare Case of Microtia with Joint Formation Between Zygomatic Part of Temporal Bone and Mandibular Condyle.

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India
2025

Relationship between ear appearance and psychological function among congenital unilateral microtia after autologous cartilage ear reconstruction: a chain mediation model.

BMC psychology
2025

Costal cartilage graft harvesting for auricular reconstruction: donor-site morbidity assessment.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2026

Total Ear Reconstruction with Costal Cartilage in Challenging Cases: Silicone-Induced Vascularized Capsule Technique.

Plastic and reconstructive surgery
2025

Single-Stage Microtia Reconstruction: Avoiding Implant Exposure Via Intraoperative Angiography, A Cutting-Edge Reconstructive Technique.

The Journal of craniofacial surgery
2025

A novel EFTUD2 splicing variant causing mandibulofacial dysostosis with microcephaly: a case report.

Translational pediatrics
2025

Comprehensive smartphone-based 3D scanning framework for capturing the external ear.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2026

A Modified Method for Ear Projection in Auricular Reconstruction: Split-Thickness Skin Graft Combined with Retroauricular Fascia Flap.

Plastic and reconstructive surgery
2025

Alexandrite laser hair removal for pediatric microtia patients undergoing autologous rib cartilage auricular reconstruction: A retrospective analysis.

International journal of pediatric otorhinolaryngology
2025

Pediatric otologic health disparities in Hispanic populations: A PRISMA-based systematic review.

International journal of pediatric otorhinolaryngology
2025

Embarking on a Treatment Journey: Experiences of Caregivers of Young Children With Craniofacial Microsomia.

The Journal of craniofacial surgery
2025

The Relationship Between Microtia and Complex Chronic Conditions: A Comprehensive Analysis of 20 000 Patients.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Identification and Analysis of Differentially Expressed Ferroptosis-Related Genes in Microtia.

The Journal of craniofacial surgery
2025

Clarifying the Relationship Between Orbito-Zygomatic and Mandibular Dysmorphology in Treacher Collins Syndrome.

The Journal of craniofacial surgery
2025

Hearing Loss Profiles in Sporadic and Familial Microtia: Clinical Insights From an Ecuadorian Cohort.

Birth defects research
2025

Rib Autograft Versus Porous Polyethylene Implant Outcomes in Microtia Reconstruction: A Meta-Analysis and Systematic Review.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Audiometric Trends Among Children With Congenital Aural Atresia or External Auditory Canal Stenosis.

The Laryngoscope
2025

A Practical Guide to Microtia Scoring: Step-by-Step.

AJNR. American journal of neuroradiology
2025

Exploring Osia System's auditory outcome and the surgical benefits of posterior placement of BI300 in children with microtia.

International journal of pediatric otorhinolaryngology
2025

Double Tissue Expanders in Auricular Reconstruction for Patients Following Aural Atresia Repair.

The Laryngoscope
2025

JAG2: A Potential Biomarker for Microtia Identified by Integrated RNA Transcriptome Analysis.

Current genomics
2025

Clinical Characteristics, Concomitant Malformations and Hearing Status in Congenital Microtia - A Retrospective Analysis of 635 Cases.

American journal of otolaryngology
2025

Racial, Ethnic, and Socioeconomic Trends in Microtia and Anotia Care.

The Journal of craniofacial surgery
2025

Ethical Considerations in Pediatric External Ear Surgery.

Plastic surgery (Oakville, Ont.)
2025

A systematic review of congenital external ear anomalies and their associated factors.

Frontiers in pediatrics
2025

Evaluating the Environmental Impact of Quaternary Plastic Surgery: An Eco-audit of the Autologous Microtia Reconstruction Pathway.

Plastic and reconstructive surgery. Global open
2025

Efficacy and safety of ultrasound-guided bilateral superficial serratus anterior plane block for postoperative analgesia in pediatric ear reconstruction with costal cartilage harvest: a randomized controlled trial.

Journal of anesthesia
2025

Bonebridge BCI 602 implantation in syndromic and non-syndromic patients with bilateral microtia and aural atresia.

International journal of pediatric otorhinolaryngology
2025

3D-Printed Scaffolds for Ear Reconstruction Using Decellularized Human Cartilage-Derived Bioink and Polycaprolactone.

ACS biomaterials science &amp; engineering
2025

Systematic Review on Microtia: Current Knowledge and Future Directions.

Children (Basel, Switzerland)
2025

Single-Stage Ear Reconstruction Simultaneous With Piezoelectric Osia® Bone Conduction Implantation.

Annals of plastic surgery
2025

Adipose-mesenchymal stem cells enhance the formation of auricular cartilage in vitro and in vivo.

Stem cells translational medicine
2025

A Novel Advantage to Microtia Reconstruction Utilizing Ear Molding: A Case Report of Goldenhar Syndrome's Clinical Presentation and Surgical Reconstruction.

Cureus
2025

Genetic characteristics associated with isolated Microtia revealed through whole exome sequencing of 201 pedigrees.

Human molecular genetics
2026

Strategies for Surgical Refinement of the Antihelical Complex Using Autologous Costal Cartilage in Auricular Reconstruction for Microtia.

Facial plastic surgery &amp; aesthetic medicine
2025

A Modified Two-Flap Method for First-Stage Ear Reconstruction in Lobule-Type Microtia.

Aesthetic plastic surgery
2025

Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia.

Genome research
2025

Microtia Reconstruction Practices Among Otolaryngologists in the United States.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
2025

Artificial Intelligence Applications in Pediatric Craniofacial Surgery.

Diagnostics (Basel, Switzerland)
2025

Application and Effectiveness of the Perioperative Position Management in Patients with Congenital Microtia.

Plastic and reconstructive surgery
2025

Influence of vascular anatomy and perfusion on complications in the first stage of total auricular reconstruction.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2025

Clinical significance and audiological outcomes in bilateral microtia: Simultaneous auricle reconstruction and BONEBRIDGE implantation via retrosigmoid sinus approach.

International journal of pediatric otorhinolaryngology
2025

Audiological assessment using click auditory brainstem response and chirp auditory steady-state response in pediatric patients with congenital microtia under 36 months: A single-center experience.

International journal of pediatric otorhinolaryngology
2025

Long-term clinical and audiometric outcomes after the implantation of piezoelectric bone conduction devices in children: a prospective cohort study.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
2026

Microtia with Coexistent Large External Auditory Canal Cholesteatoma: A Case Report.

Journal of Nippon Medical School = Nippon Ika Daigaku zasshi
2026

Microtia Reconstruction: 30-Day Outcomes for Autograft Versus Implant Reconstruction in a National Surgical Database.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Artificial intelligence assisted identification of newborn auricular deformities via smartphone application.

EClinicalMedicine
2025

Fibrous dysplasia of the temporal bone presenting as a parotid abscess.

The New Zealand medical journal
2025

Active Osseointegrated Transcutaneous Bone Conduction Implant: Results of a New Surgical Location in Children with Microtia and External Auditory Canal Atresia.

Otology &amp; neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
2025

An innovative corrective method: Reutilization of auricular fistula in microtia reconstruction.

Journal of stomatology, oral and maxillofacial surgery
2025

Analysis of 42 bilateral microtia reconstruction: Comparative study and surgical characteristics.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2025

Ultrasound-Guided Serratus Anterior Plane Block Combined with Modified Parasternal Block in Pediatric Patients Undergoing Auricular Reconstruction Surgery Results in Superior Quality of Recovery Compared to a Standalone Serratus Anterior Plane Block.

Aesthetic plastic surgery
2024

Biogeographic Ancestry Analysis of Microtia Patients in Colombia using Nonlinear Probabilistic Clustering.

Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference
2025

Publisher Correction: Single-Cell RNA sequencing reveals mitochondrial dysfunction in microtia chondrocytes.

Scientific reports
2026

Anthropometric Difference of Unilateral Microtia Reconstructed Auricle.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Socioeconomic disparities in reconstructive pediatric microtia surgery.

International journal of pediatric otorhinolaryngology
2026

Evaluation of Family-Centered Care by Parents and Nurses of Children With Congenital Microtia.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

The application of multilayered three-dimensional costal cartilage framework in auricular reconstruction with expanded postauricular skin flap.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2025

Readability and Quality of Microtia Online Information by Large Organizations in English and Spanish.

The Laryngoscope
2025

Surgical decision-making regarding hearing and ear reconstruction in craniofacial microsomia: Exploring caregiver narratives.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2025

The Challenges and Considerations with Autologous Rib Microtia Reconstruction.

Facial plastic surgery : FPS
2025

[The application of porous polyethylene biological scaffolds combined with temporoparietal fascial flaps in auricular reconstruction].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery
2025

Deciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption.

Orphanet journal of rare diseases
2025

Improvement of Quality of Life After Microtia Reconstruction Using a Modified Firmin Technique-Case Series of 130 Patients.

Aesthetic plastic surgery
2025

Cartilage allograft for reconstruction of acquired and congenital total and subtotal auricular defects: A systematic review.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2026

Microtia in Indonesia: Characteristics and Family History Analysis on the Presence of Other Congenital Anomalies in Patients With Microtia.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

HOXB6 down-regulation induced by retinoic acid pathway repression leads to chondrocyte proliferation inhibition and apoptosis in microtia.

Genes &amp; diseases
2024

Intravenous Sedation in a Patient With Sotos Syndrome and Intellectual Disability: A Case Report.

Cureus
2025

Spectrum of Otological Manifestations in Treacher Collins Syndrome: A Case Series of 9 Patients.

Journal of computer assisted tomography
2025

Epidemiological Characteristics and Maternal Risk Factors of Microtia and Aural Atresia in Kazakhstan.

International archives of otorhinolaryngology
2025

Comparative analysis of small-incision and traditional techniques in costal cartilage harvesting: Outcomes on thoracic deformities and scar appearance.

International journal of pediatric otorhinolaryngology
2026

An Overview of the Currently Used Congenital Auricular Anomalies (CAA) Classifications for Surgical Reconstruction: A Scoping Review.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2024

A Pilot Study of the Anthropometric Growth Pattern of the Human Auricle of the North Indian Region.

Cureus
2024

Automated xeno-free chondrogenic differentiation from human embryonic stem cells: Enhancing efficiency and ensuring high-quality mass production.

Regenerative therapy
2025

De Novo Missense Mutation in FREM1 Identified in a Chinese Patient with Comorbid Congenital Microtia and Pulmonary Hypoplasia.

The Journal of craniofacial surgery
2025

Toward improved auricle reconstruction: The role of FDM 3D printing with PCL and TPU materials.

Biomaterials advances
2024

A novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments.

Orphanet journal of rare diseases
2025

Study on Time Distribution and Pathogenic Bacteria of Infection After Auricular Reconstruction With Tissue Expansion for Microtia.

The Journal of craniofacial surgery
2026

Benefit Finding in Craniofacial Conditions: A Qualitative Analysis of Patient and Parent Perspectives.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Single-Cell RNA sequencing reveals mitochondrial dysfunction in microtia chondrocytes.

Scientific reports
2025

Double network hydrogels encapsulating genetically modified dedifferentiated chondrocytes for auricular cartilage regeneration.

Journal of materials chemistry. B
2025

Audiological performance and subjective satisfaction of the ADHEAR system in experienced pediatric users with unilateral microtia and aural atresia.

International journal of pediatric otorhinolaryngology
2025

"Mortise and Tenon Joint" Technique to Improve the Stability of Three-Dimensional Costal Cartilage Framework in Fully Expansion Ear Reconstruction.

The Journal of craniofacial surgery
2024

Auditory and Speech Outcomes Following Transcutaneous Bone Conduction Hearing Implantation.

Cureus
2025

Three-dimensional printing technology for the positioning of the reconstructed auricle in microtia reconstruction.

Journal of stomatology, oral and maxillofacial surgery
2025

Triangular flaps combined with full-thickness skin graft for repairing concha-type microtia.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2025

Key Decision-Making Factors in Pediatric Microtia Repair.

The Annals of otology, rhinology, and laryngology
2025

"Man vs. Machine: 3D Milling of Auricular Frameworks".

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Genetics of Nonsyndromic Microtia and Congenital Aural Atresia: A Scoping Review.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
2024

An innovative CRISPR/Cas9 mouse model of human isolated microtia indicates the potential contribution of CNVs near HMX1 gene.

International journal of pediatric otorhinolaryngology
2024

Audiological and Subjective Benefits in a Child with Microtia and Atresia After Sequential Bilateral Implantation with Active Bone Conduction Devices: A Case Study.

Children (Basel, Switzerland)
2025

Advances in the Application of Microsurgical Techniques in Repairing Traumatic Auricular Defects.

The Journal of craniofacial surgery
2024

Multidisciplinary Treatment of Hemifacial Microsomia: Several Clinical Cases.

Clinics and practice
2025

Imaging of Treacher Collins syndrome: A case report.

Radiology case reports
2025

A Cartilage-Saving Technique for Tragus and Antitragus Fabrication in Auricular Reconstruction.

Facial plastic surgery &amp; aesthetic medicine
2024

Neuroanatomical anomalies due to a defect in the FGF3 gene, associated with the Labyrinthine Aplasia, Microtia and Microdontia syndrome: insights from the placement of auditory brainstem implants in two siblings.

Therapeutic advances in rare disease
2024

Temporal trends in the prevalence of major birth defects in China: a nationwide population-based study from 2007 to 2021.

World journal of pediatrics : WJP
2025

Analyzing Discrepancies and Correlations in Soft and Hard Tissue Asymmetry: A Focused Study on Hemifacial Microsomia and Isolated Microtia.

Aesthetic plastic surgery
Ver todos os 1.085 no EuropePMC

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Doenças relacionadas

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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. Genetic variation near ROBO1 is associated with craniofacial microsomia and related phenotypes in the Finnish population.
    Human molecular genetics· 2026· PMID 41955302mais citado
  2. Vibrant Soundbridge and Porous Polyethylene Auricular Reconstruction in a Single&#x2011;Stage Procedure.
    Science progress· 2026· PMID 41747233mais citado
  3. A Meier-Gorlin syndrome mutation impairs the loading of the MCM2-7 complex during DNA replication initiation.
    Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41719335mais citado
  4. Safety and efficacy of connecting the residual ear to the cartilage scaffold in the first-stage versus second-stage surgery: a protocol of a randomised controlled trial in non-expanded auricular reconstruction for concha-type microtia.
    BMJ open· 2026· PMID 41638738mais citado
  5. Hearing rehabilitation in patients with Treacher Collins syndrome.
    Acta oto-laryngologica· 2026· PMID 41949491mais citado
  6. Quantifying 3D Shape in Microtia Reconstruction Using 3D Surface Scanning: A Pilot Phantom-and-Case Study.
    Facial Plast Surg Aesthet Med· 2026· PMID 41981830recente
  7. CRABP2 upregulation in perichondral stem cells is associated with microtia.
    BMC Med Genomics· 2026· PMID 41975397recente
  8. Reconstruction of microtia with crus helicis transversal deformity using flap technique combined with ear cartilage transplantation: a retrospective study.
    Maxillofac Plast Reconstr Surg· 2026· PMID 41964724recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:83463(Orphanet)
  2. OMIM OMIM:600674(OMIM)
  3. MONDO:0010920(MONDO)
  4. GARD:431(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)

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
Compêndio · Raras BR

Microtia

ORPHA:83463 · MONDO:0010920
Prevalência
1-5 / 10 000
Herança
Autosomal dominant, Autosomal recessive, Not applicable
CID-10
Q17.2 · Microtia
CID-11
Ensaios
8 ativos
Início
Infancy, Neonatal
Prevalência
38.0 (Specific population)
MedGen
UMLS
C0152423
EuropePMC
Wikipedia
Papers 10a
Evidência
🥉 Relato de caso
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