Introdução
O que você precisa saber de cara
A Síndrome de Goldenhar é um defeito congênito raro caracterizado por desenvolvimento incompleto da orelha, nariz, palato mole, lábio e mandíbula, geralmente em um lado do corpo. Manifestações clínicas comuns incluem dermoides límbicos, apêndices pré-auriculares e estrabismo. Está associada ao desenvolvimento anômalo do primeiro arco branquial e do segundo arco branquial.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 26 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 77 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição. Padrão de herança: Not applicable.
Transcription factor required for pharyngeal arch development, which is involved in hair, ear, jaw and dental development (PubMed:37041148). May act as a pioneer transcription factor during pharyngeal arch development (By similarity). Required for epithelial cell differentiation within the epidermis (By similarity). Acts at multiple stages of otic placode induction: necessary for preplacodal ectoderm to execute an inner ear program (By similarity). Required for hair follicle stem cell specificat
Nucleus
Craniofacial microsomia 2
A form of craniofacial microsomia, a disorder characterized by a spectrum of craniofacial malformations ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or facial nerve. Most CFM2 patients exhibit isolated unilateral or bilateral grade II/III microtia, with or without atresia, although some patients show only minor external ear defects. Mandibular hypoplasia, micrognathia, and dental anomalies have also been observed. CFM2 inheritance can be autosomal dominant or autosomal recessive.
Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs (PubMed:12234937, PubMed:32494006, PubMed:34822310). The 17S U2 SnRNP complex (1) directly participates in early spliceosome assembly and (2) mediates recognition of the intron branch site during pre-mRNA splicing by promoting the selection of the pre-mRNA branch-site adenosine, the nucleophile for the first step of splicing (PubMed:12234937, PubMed:32494006
NucleusNucleus speckle
Craniofacial microsomia 1
A form of craniofacial microsomia, a disorder characterized by a spectrum of craniofacial malformations ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or facial nerve. CFM1 is an autosomal dominant form characterized by mandibular hypoplasia, microtia, facial and preauricular skin tags, epibulbar dermoids, and lateral oral clefts. Affected individuals also present skeletal and cardiac abnormalities.
Variantes genéticas (ClinVar)
73 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
4 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Espectro clínico oculo-auriculo-vertebral
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
Ensaios em destaque
Pesquisa e ensaios clínicos
11 ensaios clínicos encontrados.
Publicações mais relevantes
Temporal bone and multisystem phenotypic stratification in oculo-auriculo-vertebral spectrum using high-resolution CT: Correlation with tasse severity score.
To characterize craniofacial, temporal-bone, vertebral, and systemic anomalies in oculo-auriculo-vertebral (OAV) spectrum using high-resolution computed tomography (HRCT) and to examine associations with clinical severity by the Tasse Objective Scoring System. We performed a retrospective study (2015-2024) at a national tertiary center including 223 clinically diagnosed OAV patients; 217 had bilateral temporal-bone HRCT suitable for analysis. HRCT assessed external auditory canal (EAC), ossicular, and intratemporal facial-nerve anatomy; inner-ear/vestibulocochlear-nerve abnormalities were evaluated in a subset. Vertebral anomalies were CT-confirmed when coverage was available; renal and cardiac findings were extracted from clinical records. Statistics included chi-square or Fisher tests with Cramér's V, Cochran-Armitage trend tests across Tasse grades, and Spearman correlation for vertebral anomaly counts (two-sided α = 0.05). Mean age was 7.6 ± 4.2 years; 55.2 % were male. In the HRCT subset, EAC stenosis/atresia and ossicular abnormalities were frequent and increased with Tasse severity (EAC: 48.4 %→59.8 %→82.8 %, p = 0.0078; ossicles: 40.3 %→49.6 %→82.8 %, p < 0.001), as did aberrant intratemporal facial-nerve course (24.2 %/27.4 %/53.3 %, p = 0.010). Inner-ear malformations were identified in 14.3 % and vestibular/vestibulocochlear-nerve anomalies in 42.9 % of those specifically evaluated. CT-confirmed vertebral anomalies occurred in 29.1 % overall; segmentation defects showed a strong grade-wise increase (p < 0.001) and the cumulative vertebral anomaly count correlated with Tasse severity (Spearman ρ = 0.41, p < 0.001). Renal anomalies were present in 16.6 % and rose across grades (p = 0.044; trend p < 0.001), whereas cardiac anomalies occurred in 14.8 % with no significant between-grade difference (p = 0.19). Pairing HRCT phenotyping with Tasse severity stratification provides clinically actionable information for operative planning (canaloplasty/ossiculoplasty/device candidacy) and prioritizes systemic surveillance (spine and renal screening) in OAV spectrum. This integrated approach supports coordinated multidisciplinary care and offers a framework for future standardized screening and outcome-oriented research.
A systematic review of congenital external ear anomalies and their associated factors.
External ear anomalies may lead to conductive hearing loss with significant childhood disability, psychological distress, anxiety, social avoidance, and behavioral problems. The aim of this study is to compile and review published literature on the frequency of isolated and non-isolated external ear anomalies, their associated factors, and associated malformations/deformations in non-isolated cases. We conducted a systematic review in PubMed, Google Scholar, and Science Direct searching for any type of article (excluding reviews and meta-analyses) reporting isolated and non-isolated external ear anomalies in humans. Two authors extracted the information according to the main variables of interest according to PICO criteria. Details of studied population and main findings were also obtained (malformation type, unilateral or bilateral malformations and associated factors). Twenty-six studies met eligibility criteria to be included in this review. Anotia/microtia was the most reported malformation, more frequently found in males, mostly unilateral; being the right ear the most affected, and more frequent in Hispanic population. Associated factors for external ear anomalies included parental age, maternal education, multiple pregnancies, high maternal body mass index and diabetes, pregnancy, and perinatal complications (low birth weight, prematurity, threatened abortion, etc.), twining, and chemical/drug exposure. The most reported malformations and syndromes associated with congenital external ear defects included: skull/face anomalies, cleft lip/palate, congenital heart defects, musculoskeletal malformations of skull, face and jaw, Treacher-Collins, OAVS (oculo-auriculo-vertebral spectrum), and trisomy 18, 13 and 21. Congenital external ear anomalies can occur isolated or associated with other malformations or syndromes. Environmental, socioeconomic, and cultural factors may partially explain the variation across populations for congenital external ear anomalies. Depending on their type and severity, they can lead to speech impediments and childhood disability, particularly in bilateral cases, highlighting the relevance of early detection and repair to avoid childhood disability.
Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrum.
Molecular bases of the clinically heterogenous Oculo-Auriculo-Vertebral Spectrum or Craniofacial Microsomia remain largely unknown. Although genetic diagnosis is established in less than 10% of the patients, variants in the FOXI3 gene are the most recurrent genetic cause. We studied a large family with 6 affected individuals on 4 generations showing an autosomal dominant transmission of Oculo-Auriculo-Vertebral Spectrum with incomplete penetrance. The genome sequencing strategy allowed the identification of a new likely pathogenic missense variant located within the Nuclear Localization Signal of FOXI3 and affecting its subcellular localization. Moreover, we described 3 additional rare FOXI3 variants identified in 3 other patients from a cohort of 251 patients with Oculo-Auriculo-Vertebral Spectrum. These variants were classified as Variants of Unknown Significance. In conclusion, this study confirms FOXI3 implication in the Oculo-Auriculo-Vertebral Spectrum and the importance of Nuclear Localization Signal integrity. Genotype-phenotype correlations and putative modifier haplotype are discussed.
Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum.
Oculo-auriculo-vertebral spectrum (OAVS) is characterized by abnormal development of the 1st and 2nd branchial arches. Despite arguments against a monogenic condition, a few genes have been involved in a minority of cases. We now report heterozygous, presumably loss-of function variants in the CHAF1A gene in 8 individuals, including 3 members of the same family. Four cases fulfill stringent diagnostic criteria for OAVS, including asymmetric ear dysplasia, preauricular tags, mandibular asymmetry +/- vertebral malformations. Two patients also presented with kidney malformations. CHAF1A encodes a subunit of CAF-1 (chromatin assembly factor-1), a heterotrimeric protein complex responsible for the deposition of newly synthesized histones H3-H4 onto the newly synthetized DNA strand during replication. The identification of loss-of-unction variants in CHAF1A is consistent with the hypothesis of early developmental genes dysregulation driving OAVS and other associations recently lumped under the acronym Recurrent Constellations of Embryonic Malformations (RCEM).
Haploinsufficiency of SF3B2 revealed by a craniofacial microsomia with atypical presentation: a case report.
Otomandibular syndrome is primarily characterised by craniofacial microsomia (CFM). Pathogenic loss-of-function variants of the SF3B2 gene, which encodes the U2 subunit of the spliceosome, can cause CFM through a haploinsufficiency mechanism. This study aims to present the clinical phenotype and maxillofacial management of a patient carrying a novel SF3B2 gene variant. We present the case of a patient with a heterozygous de novo pathogenic variant of the SF3B2 gene who presented with an otomandibular syndrome accompanied by progressive camptodactyly of the extremities, which had not been described previously. Particularly low maxillary and mandibular bone density was observed during bimaxillary osteotomy, necessitating adaptation of the surgical protocol. This case expands the phenotypic spectrum of anomalies associated with the SF3B2 gene by indicating potential subclinical acral and bone involvement. It also emphasises the importance of genetic analysis in complex craniofacial malformations.
Publicações recentes
Genetic variation near ROBO1 is associated with craniofacial microsomia and related phenotypes in the Finnish population.
Characterization of a Familial Goldenhar Syndrome Case Using Whole-Exome Sequencing.
Oculo-Auriculo-Vertebral Spectrum (Goldenhar Syndrome).
Temporal bone and multisystem phenotypic stratification in oculo-auriculo-vertebral spectrum using high-resolution CT: Correlation with tasse severity score.
Haploinsufficiency of SF3B2 revealed by a craniofacial microsomia with atypical presentation: a case report.
📚 EuropePMC98 artigos no totalmostrando 90
Temporal bone and multisystem phenotypic stratification in oculo-auriculo-vertebral spectrum using high-resolution CT: Correlation with tasse severity score.
European journal of radiologyHaploinsufficiency of SF3B2 revealed by a craniofacial microsomia with atypical presentation: a case report.
Journal of stomatology, oral and maxillofacial surgeryThe cochlear basal turn as a very preserved region in cochlear hypoplasias: radiological and embryological considerations from a cohort of 125 patients.
NeuroradiologyA systematic review of congenital external ear anomalies and their associated factors.
Frontiers in pediatricsOrthognathic Surgery of Goldenhar Syndrome Patient With Absent Bilateral Mental Foramina.
The Journal of craniofacial surgeryRetrospective Investigation on Swallowing and Feeding Difficulties in Patients With Oculo-Auriculo-Vertebral-Spectrum.
The Journal of craniofacial surgeryNovel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrum.
European journal of human genetics : EJHGCan some metabolic one-carbon cycle linked diseases be prevented? The impact of treating hypo-fertile couples carrying MTHFR SNPs with folic acid and 5-MTHF on outcomes in the offspring: a case retrospective series.
Journal of assisted reproduction and geneticsChromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum.
European journal of human genetics : EJHGGoldenhar Syndrome Complicated by Hemifacial Microsomia and Unilateral Cleft Palate Absence.
The Journal of craniofacial surgeryUsing three-dimensional geometric morphometry for facial analysis in patients with the oculo-auriculo-vertebral spectrum.
Orthodontics & craniofacial researchIdentification of a de novo PUF60 variant associated with craniofacial microsomia.
American journal of medical genetics. Part APrenatal findings in 11 cases with craniofacial microsomia using the Alberta Congenital Anomalies Surveillance System, 1997-2019.
American journal of medical genetics. Part A14q22.3 duplication including OTX2 in a girl with medulloblastoma: A case report with literature review.
American journal of medical genetics. Part AAssociated anomalies in anophthalmia and microphthalmia.
European journal of medical geneticsAn Atypical Presentation of Goldenhar Syndrome With Seizures: A Rare Case Report.
CureusCaruncle dysgeneses - A case series.
American journal of ophthalmology case reportsOculo auriculo vertebral spectrum and CHARGE association.
BMJ case reportsExpanding the Etiology of Oculo-Auriculo-Vertebral Spectrum: A Novel Interstitial Microdeletion at 1p36.
International journal of molecular sciencesOTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.
Journal of medical geneticsThe Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes.
Life (Basel, Switzerland)Orthognathic Surgery in Goldenhar Syndrome With a Rare Course of the IAN.
The Journal of craniofacial surgery[Genetic characteristics of microtia-associated syndromes in neonates].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsCutaneous fistula on the cheek associated with oculo-auriculo-vertebral spectrum.
Journal of surgical case reportsA new association of Oculoauriculovertebral spectrum and persistent fifth aortic arch -double lumen aorta: a case report.
BMC pediatricsProposed clinical approach and imaging studies in families with oculo-auriculo-vertebral spectrum to assess variable expressivity.
American journal of medical genetics. Part AOculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease.
Journal of medical geneticsGenetics of craniofacial malformations.
Seminars in fetal & neonatal medicineA child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings.
European journal of medical geneticsOCULO-AURICULO-VERTEBRAL SPECTRUM ASSOCIATED WITH ABERRANT SUBCLAVIAN ARTERY IN AN INFANT WITH RECURRENT RESPIRATORY DISTRESS.
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao PauloCongenital abnormalities associated with microtia: A 10-YEARS retrospective study.
International journal of pediatric otorhinolaryngologyUltrasound diagnosis of oculo-auriculo-vertebral spectrum in a mid-trimester foetus.
Prenatal diagnosisCopy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.
Clinical geneticsNovel MYT1 variants expose the complexity of oculo-auriculo-vertebral spectrum genetic mechanisms.
American journal of medical genetics. Part ACraniofacial and airway morphology of individuals with oculoauriculovertebral spectrum.
Orthodontics & craniofacial researchCase of oculo-auriculo-vertebral spectrum: rare clinical features.
BMJ case reportsSurgical Approach to Hemipalatal Discrepancy in Tessier 7 Reconstruction: Review of Literature and Case Series.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationGenome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).
International journal of molecular sciencesA recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum.
Human geneticsGenomic imbalances in craniofacial microsomia.
American journal of medical genetics. Part C, Seminars in medical geneticsRecurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis.
American journal of medical genetics. Part ACandidate genes of oculo-auriculo-vertebral spectrum in 22q region: A systematic review.
American journal of medical genetics. Part AMYT1 role in the microtia-craniofacial microsomia spectrum.
Molecular genetics & genomic medicineFunctional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS.
Molecular genetics & genomic medicineDescription of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3.
Clinical geneticsCongenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity.
American journal of medical genetics. Part AHemifacial microsomia: skeletal abnormalities evaluation using CBCT (case report).
Journal of radiology case reportsOculo-Auriculo-Fronto-Nasal Syndrome With Duane Retraction Syndrome and Dysplastic Bony Structure in the Midline of Nose.
The Journal of craniofacial surgeryOculo-auriculo-vertebral spectrum with radial defects, a bifid condyle and taurodontism: A case report.
Dental and medical problemsOculo-Auriculo-Vertebral Dysplasia With Craniocervical Instability and Occult Tethered Cord Syndrome. An Addition to the Spectrum? First Case Report and Review of the Literature.
Journal of the American Academy of Orthopaedic Surgeons. Global research & reviewsRare single-nucleotide variants in oculo-auriculo-vertebral spectrum (OAVS).
Molecular genetics & genomic medicine[Case report of familial microtia combined with tetralogy of Fallot and scoliosis and literature review].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryCT Imaging Categorization and Biomarker Study of Anomalous Tympanic Segment of the Facial Nerves in Patients With Hearing Loss in the Absence of Microtia.
Ear, nose, & throat journalThe oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.
American journal of medical genetics. Part APrenatal retinoic acid exposure reveals candidate genes for craniofacial disorders.
Scientific reportsHeterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.
Human mutationAbnormal soft palate movements in patients with microtia.
Journal of plastic, reconstructive & aesthetic surgery : JPRASGoldenhar syndrome (oculo-auriculo-vertebral spectrum): Findings on cone beam computed tomography-3 case reports.
Oral surgery, oral medicine, oral pathology and oral radiologyMultidisciplinary management of oculo-auriculo-vertebral spectrum.
Current opinion in otolaryngology & head and neck surgeryMacrostomia: The defining feature of the oculo-auriculo-vertebral spectrum.
Acta otorrinolaringologica espanolaHemifacial microsomia (oculo-auriculo-vertebral spectrum) in an individual from the Teramo Sant'Anna archaeological site (7th-12th centuries of the Common Era, Italy).
Archives of oral biologyHealthcare and psychosocial experiences of individuals with craniofacial microsomia: Patient and caregivers perspectives.
International journal of pediatric otorhinolaryngologyAsymmetrically enlarged parietal foramina in a rare case of Goldenhar syndrome with a possible etiopathogenesis.
OncotargetDistal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review.
European journal of medical geneticsA unique anomaly of the ear: Oculo-auriculo-vertebral spectrum or an isolated disruption?
The LaryngoscopeCheck-list for the assessment of functional impairment in children with congenital aural atresia.
International journal of pediatric otorhinolaryngologyThe ectopic accessory parotid system: A new patient, studied through magnetic resonance imaging.
Clinical imagingVertebral anomalies in craniofacial microsomia: a systematic review.
International journal of oral and maxillofacial surgeryWhole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis.
Orthodontics & craniofacial researchA novel de novo mutation in MYT1, the unique OAVS gene identified so far.
European journal of human genetics : EJHGSalivary glands abnormalities in oculo-auriculo-vertebral spectrum.
Clinical oral investigationsOculo-auriculo-vertebral spectrum: going beyond the first and second pharyngeal arch involvement.
NeuroradiologyCoinheritance of Hereditary Elliptocytosis and Deletional Hemoglobin H Disease.
Journal of pediatric hematology/oncologyCharacterizing facial features in individuals with craniofacial microsomia: A systematic approach for clinical research.
Birth defects research. Part A, Clinical and molecular teratologyThe ectopic accessory parotid system with congenital cheek fistula: An overview and current update.
The LaryngoscopeAssociated anomalies in cases with anotia and microtia.
European journal of medical geneticsLate Recognition of a Case of Oculo-Auriculo-Vertebral Spectrum.
Optometry and vision science : official publication of the American Academy of OptometryOculoauriculofrontonasal Dysplasia Syndrome With Additional Clinical Features.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationMutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS.
Journal of medical geneticsOculo-auriculo-vertebral spectrum with myopathy and velopharyngeal insufficiency. A case report with a non-branchiomeric muscle biopsy.
La Pediatria medica e chirurgica : Medical and surgical pediatrics[The etiology research progress of oculo-auriculo-vertebral spectrum].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryAtypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype.
Cytogenetic and genome researchOculo-auriculo-vertebral spectrum with craniosynostosis and osteo-cartilagineous multiple defects: a diffuse chondro-membranous-osteo-dysplasia.
La Pediatria medica e chirurgica : Medical and surgical pediatricsCongenital Auricular Malformations: Description of Anomalies and Syndromes.
Facial plastic surgery : FPSOculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.
European journal of medical geneticsAudiological findings in patients with oculo-auriculo-vertebral spectrum.
International archives of otorhinolaryngologyPrevalence and type of associated syndromes in patients with cleft lip and cleft palate who received the treatment in Tawanchai Center until 4-5 years of age.
Journal of the Medical Association of Thailand = Chotmaihet thangphaetCranial Nerve Abnormalities in Oculo-Auriculo-Vertebral Spectrum.
AJNR. American journal of neuroradiologyA de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum.
American journal of medical genetics. Part APrecocious puberty in a patient with Oculo-Auriculo-Verebral spectrum (OAVS).
La Pediatria medica e chirurgica : Medical and surgical pediatricsAssociações
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Comunidades
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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.
- Temporal bone and multisystem phenotypic stratification in oculo-auriculo-vertebral spectrum using high-resolution CT: Correlation with tasse severity score.
- A systematic review of congenital external ear anomalies and their associated factors.
- Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrum.
- Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum.
- Haploinsufficiency of SF3B2 revealed by a craniofacial microsomia with atypical presentation: a case report.
- Genetic variation near ROBO1 is associated with craniofacial microsomia and related phenotypes in the Finnish population.
- Characterization of a Familial Goldenhar Syndrome Case Using Whole-Exome Sequencing.
- Oculo-Auriculo-Vertebral Spectrum (Goldenhar Syndrome).
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:141132(Orphanet)
- MONDO:0015397(MONDO)
- GARD:12074(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q10267187(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
