A Anemia de Fanconi (AF) é uma doença genética que afeta crianças e adultos de todos os grupos étnicos. A doença foi nomeada pelo pediatra suíço que originalmente descreveu esta desordem, Guido Fanconi. Não deve ser confundida com a síndrome de Fanconi, uma desordem renal também nomeada por Fanconi.
Introdução
O que você precisa saber de cara
Síndrome rara autossômica recessiva caracterizada por deficiência auditiva, hipoplasia/aplasia renal e anomalias genitais, como atresia vaginal. A morfologia anormal dos ossículos da orelha média contribui para a perda auditiva.
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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
Partes do corpo afetadas
+ 2 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 5 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
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
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 — Anomalias renais, genitais e do ouvido médio
Centros de Referência SUS
24 centros habilitados pelo SUS para Anomalias renais, genitais e do ouvido médio
Centros para Anomalias renais, genitais e do ouvido médio
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
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.
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Journal of cosmetic dermatologyKissing Cochlea: An Extreme Inner Ear Malformation, Novel Surgical Approach via Cystic Vestibule.
The LaryngoscopeRecurrent otomycosis in patients with undiagnosed diabetes mellitus: a clinical analysis.
The Journal of laryngology and otologyA proposed nosology of inherited disorders of the extracellular matrix (ECM): Insights from the IEMbase and dyadic classification.
Molecular genetics and metabolismInvisible water in subducted crust: Lawsonite velocity anomalies under mantle conditions.
Proceedings of the National Academy of Sciences of the United States of AmericaGeneration of a human induced pluripotent stem cell line from a CHARGE syndrome patient with CHD7 mutation (c.3982C>T).
Stem cell researchFemale Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey.
JIMD reports[The clinical and imaging presentations of the pontine tegmental cap dysplasia].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgeryDetection of ossicular chain pathologies using sweep frequency impedance with short-time stimulation and adaptive noise reduction.
The Journal of the Acoustical Society of AmericaTemporal Bone CT Findings in Hajdu-Cheney Syndrome: Case Report with Review of the Literature.
AJNR. American journal of neuroradiologyEar Remnant Incision Expander Method for Conchal-Type Microtia: A 10-Year Study.
Annals of plastic surgeryA modified two-stage ear reconstruction with integrated correction: Reduced cartilage harvest and operative time for bilateral microtia.
Journal of plastic, reconstructive & aesthetic surgery : JPRASPrenatal Ethion Exposure Disrupts Reproductive Health in First-Generation Rats.
Environmental toxicologyDynamic Changes in Free Triiodothyronine (FT3) and Their Correlation with Hearing Recovery in Sudden Sensorineural Hearing Loss: Clinical Implications.
Journal of otologyA case-control study on preauricular congenital fistula surgery outcomes by Propensity Score Matching (PSM) analysis.
Brazilian journal of otorhinolaryngologyPrevalence of the Huschke Foramen in Colombian Population: An Important Anatomic Alteration for the Planning of TMJ Arthroscopy.
Journal of maxillofacial and oral surgeryHeat-inactivated Akkermansia muciniphila AKK-PROBIO ameliorates cyclophosphamide-induced immunosuppression via the NF-κB/MAPK pathway and gut microbiota modulation.
AnaerobePhenotypic expansion of retinal abnormalities in folliculin (FLCN) variant-related pathology (Birt-Hogg-Dubé syndrome).
Ophthalmic geneticsCalcium blockers protect against sensory epithelial damage and hearing loss in Cx26-cKO mice.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieTemporal bone and multisystem phenotypic stratification in oculo-auriculo-vertebral spectrum using high-resolution CT: Correlation with tasse severity score.
European journal of radiologyClear Cell Papulosis Associated With Multiple Developmental Abnormalities of the Skin.
CureusAn Insight into Role of Auditory Brainstem in Tinnitus: A Systematic Review of Diagnostic Assessments.
Audiology researchUtility and outcome of piezoelectric bone conduction implant in managing mixed hearing loss with incomplete partition type 2 and enlarged vestibular aqueduct.
SAGE open medical case reportsMinor physical anomalies and social cognition in patients with schizophrenia and their first degree relatives.
Frontiers in psychiatryCorrelations between click-ABR / PTA outcomes and temporal bone malformation characteristics in patients with congenital aural atresia.
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 SurgeryAnalysis of the clinical features of neurocristopathy-related hearing loss and how these relate to outcomes after cochlear implantation.
Scientific reportsMicroscopic Characterization of Otolith Abnormalities in Garfish Belone belone (Actinopterygii: Belonidae) from the Black Sea Using Light and SEM Microscopy.
Microscopy and microanalysis : the official journal of Microscopy Society of America, Microbeam Analysis Society, Microscopical Society of CanadaRabbit conformational predispositions to ear abnormalities: Field study of a pedigree population.
Veterinary journal (London, England : 1997)Cochlear implantation in children with congenital inner ear anomalies: challenges and outcomes.
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 SurgeryA case report of tracheal duplication cyst with steatocystomatous histology: a rare embryological overlap.
BMC surgeryReal-world pharmacovigilance and clinical risks of fluvoxamine: A disproportionality analysis based on FAERS data.
Journal of affective disordersA Morphometric Analysis of the Ear, Nose, and 2D:4D Digit Ratio in Individuals With Down Syndrome.
The Journal of craniofacial surgeryPrevalence of Electrolyte Imbalances in Critically Ill Medical Intensive Care Unit Patients and Their Association With Clinical Outcomes.
CureusEndoscopic Management of Congenital Middle Ear Ossicular Chain Anomalies: A Multicenter Study.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyDe novo CHD7 variant in a CHARGE syndrome preterm infant initially diagnosed as idiopathic hypogonadotropic hypogonadism: a case report and literature review.
BMC pediatricsCochlear implantation for inner ear malformations with facial nerve aberrations: A retrospective evaluation of eleven cases.
Cochlear implants internationalLow-Set Ears: A New Marker of Fetal Chromosomal Anomalies.
Fetal diagnosis and therapyCHD7 regulates cardiac neural crest cell differentiation through SOX5-mediated self-activation.
iScienceCase Report: Unveiling CHARGE syndrome: a neonatal case study with esophageal atresia and feeding difficulties.
Frontiers in pediatricsCo-occurrence of cerebral arteriovenous malformation and jugular bulb dehiscence as the etiology of pulsatile tinnitus: A case report.
Radiology case reportsCHARGE Syndrome and Scoliosis: A Multicenter Study Highlighting Elevated Surgical Complications.
Journal of pediatric orthopedicsA Unique Case of Beard-Distributed Infantile Hemangioma With Subglottic Extension and Evaluation for PHACE Syndrome.
Ear, nose, & throat journalACR Appropriateness Criteria® Horner Syndrome.
Journal of the American College of Radiology : JACRIn vivo anti-inflammatory, analgesic activities and phytochemical profile of Hu Lisan ethanol extract.
Journal of ethnopharmacology[Efficacy of malleostapedotomy for congenital ossicular malformation and influencing factors of postoperative hearing outcomes].
Zhonghua yi xue za zhiClinical Characteristics of a Rare Type I Congenital First Branchial Cleft Anomaly With Native Sinus Tract.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyMultidisciplinary management of nasal and lacrimal drainage disorders in ectrodactyly-ectodermal dysplasia-clefting syndrome.
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietySafety of Adenotonsillectomy in Children with Genetic Syndromes.
Ear, nose, & throat journal[Clinical characteristics of congenital atresia of the oval window].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgeryNewborn Auditory Brainstem Response and Sudden Infant Death Syndrome.
Journal of neuroscience researchAberrant Right Subclavian Artery With a Bicarotid Trunk: A Rare Cause of Stridor in Infants.
Clinical case reportsAudiovestibular Dysfunction in Hyper-IgE Syndrome: A Systematic Review of Characteristics, Pathophysiology, Diagnosis, and Management.
International journal of molecular sciencesSuperior semicircular canal abnormalities are more common in patients presenting to the emergency room with unexplained vertigo.
Clinical imagingNon-recurrent duplications on chromosome 4p16.1 involving cis-regulatory elements affecting neural crest development in patients with isolated bilateral microtia.
Human genetics[Clinical manifestations and audio-vestibular functional evaluation in patients with lateral semicircular canal malformations].
Zhonghua yi xue za zhiHearing Trajectories in Congenital Cytomegalovirus Infection: A 4-Year Follow-Up Study.
The Journal of pediatricsEmpty oval window associated with ossicular malformation: Our experience and a review of the literature.
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 SurgeryLateral mandibular ridge: A unique feature of the auriculocondylar syndrome.
European journal of radiologyThe Presentation Patterns of Tessier 7 Clefts.
The Journal of craniofacial surgeryVisual modulation of vestibular-evoked balance response disturbed by posterior cortical atrophy.
The Journal of physiologyPeripapillary Retinoschisis: The Expanded Spectrum and New Insights From Multimodal Imaging.
American journal of ophthalmologyHearing loss and pathological changes in a mouse model harboring Gjb2 p.D50N variant.
NeuroscienceNon-Neoplastic Disorders Mimicking Posterior Segment Inflammation.
Ocular immunology and inflammationPrenatal Diagnosis and Prenatal Counseling of Patients with Orofacial Clefts.
Facial plastic surgery clinics of North AmericaPredicting mid-term hearing and developmental outcome in clinically inapparent congenital cytomegalovirus infection with hearing loss at birth.
Early human developmentNr4a1 Deficiency Potentially Promotes Hearing Loss Through Inner Ear Immunity in C57BL/6N Mice.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyEvaluation of anterior olfactory nucleus changes on magnetic resonance imaging: could it be a game changer in smell disorders?
The Journal of laryngology and otologyVestibular Function and Complaints in Patients With Untreated Unilateral Vestibular Schwannoma.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyGenetic investigation of sinopulmonary diseases in Vietnam: seeking specific causes from non-specific symptoms.
Orphanet journal of rare diseasesThe Petrosquamosal Sinus: A Venous Anomaly of Surgical Importance in Mastoidectomy.
Ear, nose, & throat journalCochlear clefts in children: prevalence, characteristics, and clinical implications.
Pediatric radiologyAuditory Outcomes in Patients Undergoing Orthognathic Surgery: An Analysis of Middle Ear Disease.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck SurgeryNorth American "warming holes" and European heat during abrupt Holocene cooling events in the Atlantic.
Nature communicationsAnalysis of Craniofacial Microsomia and Facial Asymmetry: Approaches in Facial Feminization Surgery.
Aesthetic surgery journal[Clinical phenotype and genetic analysis of a fetus with a novel mutation of OTX2 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsReevaluation of Enlarged Vestibular Aqueduct.
JAMA otolaryngology-- head & neck surgeryAssociações
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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.
- Insights on Acute and Chronic Lacquer Cracks as Imaged with Visible Light OCT.
- Congenital anomalies prevalent in rural population of Dera Ismail Khan, Pakistan: Ethnic inequalities and biodemographic attributes.
- Hyperspectral Imaging for the Classification and Analysis of Drusen in Age-Related Macular Degeneration.
- Vibrant Soundbridge and Porous Polyethylene Auricular Reconstruction in a Single‑Stage Procedure.
- Stridor as an Initial Manifestation of Underlying PHACE Syndrome in an Infant: A Case Report and Comprehensive Review.
- Testing a Cochlear Implant Electrode Insertion Training System for Optimal Electrode Array Placement in Different Inner Ear Anatomies.
- Speakers as sensors: Machine learning-based earphone impedance analysis for ear canal insertion depth prediction.
- Activity and retinoic acid drive hair cell spatial patterning in the zebrafish utricle.
- Microbiota in Chronic Suppurative Otitis media: association with Postoperative Tympanic membrane outcomes.
- Reconstruction of Concha-Type Microtia Using a Crescent Costal Framework and Residual Auricular Cartilage.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1092(Orphanet)
- OMIM OMIM:267400(OMIM)
- MONDO:0009969(MONDO)
- GARD:4664(GARD (NIH))
- Q55782263(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
