Introdução
O que você precisa saber de cara
Síndrome rara autossômica dominante caracterizada por atresia do canal auditivo externo, pé em mata-borrão (talo vertical) e hipertelorismo. Pode apresentar exotropia, estenose pilórica, luxação congênita do quadril e deficiência auditiva condutiva.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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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
+ 6 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 15 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 — Síndrome de atresia do canal auditivo externo-talo vertical-hipertelorismo
Centros de Referência SUS
24 centros habilitados pelo SUS para Síndrome de atresia do canal auditivo externo-talo vertical-hipertelorismo
Centros para Síndrome de atresia do canal auditivo externo-talo vertical-hipertelorismo
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.
Publicações mais relevantes
Functional and Radiological Profile of Spontaneous Autoplugging in Superior Canal Dehiscence.
To characterize the clinical, radiologic, and electrophysiological features of spontaneous autoplugging in superior semicircular canal dehiscence (SSCD) and compare them to untreated and surgically treated cases. This retrospective observational study was conducted in a tertiary referral center in Paris, France. Fifty-nine SSCD ears were categorized into 3 groups: untreated (n=36), autoplugging (n=5), and surgically plugged (n=18). Autoplugging was defined as the absence of a fluid signal in the dehiscent canal on high-resolution 3D T2-weighted MRI in patients with no history of ear surgery. All patients underwent clinical assessment, audiometry, video head impulse test (vHIT), cervical vestibular-evoked myogenic potentials (cVEMP), and high-resolution imaging. Group comparisons used nonparametric tests with FDR correction and power analysis. vHIT gain was significantly reduced in both the autoplugging (0.56 ± 0.09) and surgical groups (0.57 ± 0.13) compared with untreated SSCD (0.77 ± 0.19, P=0.0003). The reduction was confined to the superior canal, whereas lateral and posterior canal gains remained normal. Autophony persisted in the autoplugging group (80%) but was significantly reduced in the surgical group (22.2%, P<0.0001). cVEMP thresholds were abnormally low in untreated (62.0 ± 11.1 dB) and autoplugging ears (62.5 ± 9.6 dB), and significantly higher post-surgery (83.5 ± 12.3 dB, P<0.001). Autoplugging mimics surgical plugging in terms of canal dysfunction but fails to alleviate third-window symptoms. It may represent an incomplete, spontaneous adaptation in SSCD pathophysiology. Level 3.
Pre-operative High-Resolution CT and MRI Evaluation in Pediatric Cochlear Implant Candidates: Correlation With Surgical Findings and Outcomes.
Purpose Congenital sensorineural hearing loss (SNHL) is a major childhood disability, and early cochlear implantation offers optimal auditory and language outcomes. High-resolution computed tomography (HRCT) and magnetic resonance imaging (MRI) are essential in evaluating candidacy, identifying inner ear malformations (IEMs), assessing cochlear nerve integrity, and predicting surgical challenges. This study evaluates the role of HRCT and MRI in pediatric cochlear implant candidates and correlates imaging findings with intraoperative events and postoperative outcomes. Methods This retrospective study included 32 children (<7 years) with congenital SNHL who underwent HRCT and MRI of the temporal bones. HRCT assessed mastoid pneumatization, middle ear status, vascular variants, facial recess anatomy, and cochlear morphology. MRI evaluated the membranous labyrinth, cochleovestibular nerve, internal auditory canal (IAC), and brain. Exclusion criteria included lack of consent, age >7 years, metallic implants, pacemakers, or prior cochlear implantation. Surgical records were retrospectively reviewed to assess operative complexity, including duration of surgery, intraoperative challenges, and complications encountered. Results Among 32 patients (mean age 2.9 years), mastoid aeration was normal in 81.25%, and the middle ear cavity was aerated in 90.63%. Sigmoid sinus variants, high-riding jugular bulbs (18.75%), and low-lying dural plates (34.38%) were common. Vestibular aqueduct anomalies were identified in 18.75%. The cochlear aperture was normal in 74.88%, widened in 12.5%, and stenosed in 6.25%. Inner ear malformations were present in 15.63%, including large vestibular aqueduct syndrome (LVAS), incomplete partitions, and cochlear hypoplasia, with cochlear nerve aplasia in two cases. Nineteen patients underwent cochlear implantation; all IEM cases experienced intraoperative perilymphatic gushers, consistent with imaging predictions. All surgeries used the transmastoid facial recess approach with an extended round window technique. Postoperative recovery was uneventful in all cases. Conclusions HRCT and MRI together provide a comprehensive assessment of pediatric cochlear implant candidates, enabling precise identification of IEMs, cochlear nerve anomalies, and surgical risk factors. Imaging reliably predicts intraoperative challenges such as gushers and aids in tailoring surgical approaches. A combined CT-MRI protocol is indispensable for optimizing safety, minimizing complications, and enhancing postoperative outcomes in pediatric cochlear implantation.
Herpes Zoster Oticus: Systematic Review of Clinical Prognostic Factors.
Herpes Zoster Oticus is etiologically associated with the reactivation of the Varicella-Zoster virus in the geniculate ganglion. Its primary manifestation includes pain, vesicles in the external auditory canal, and peripheral facial paralysis. The prognosis of the syndrome remains under scrutiny and debate, fluctuating based on symptom severity and clinical manifestation. The scarcity of articles accurately correlating clinical presentation and prognosis, coupled with individual factors and the syndrome's rarity, constrains more comprehensive analyses. To conduct a systematic review to determine whether it is possible to predict the prognosis of RHS based on clinical factors. This study identified a total of 6,464 articles within the databases, which were subsequently evaluated by two independent researchers. Sixty-two articles underwent full-text examinations, and following meticulous selection criteria, twelve articles were ultimately incorporated into this study. Factors such as age, onset of House-Brackmann degree, dizziness, hearing loss, time to treatment initiation, and comorbidities appear to exert influence on prognosis. The articles exhibit methodological limitations and discrepancies among them, stemming from variations in prognostic concepts, treatment protocols, evaluation timing, or reported outcomes. These variations hinder the possibility of conducting a methodologically sound comparison, regardless of how closely aligned the trials are with the theme. The review concludes that it is not possible to definitively assert the presence of a clinical parameter defining the prognosis in Herpes Zoster Oticus.
A theoretical consideration of the mechanisms underlying auditory symptoms in patients with superior semicircular canal dehiscence syndrome.
We were astonished after reading reports that superior semicircular canal dehiscence can cause auditory hypersensitivity such as hearing sounds of eye movements. The mechanisms underlying auditory hypersensitivity remain incompletely understood. The aim of this hypothesis-generating, theoretical consideration was to propose a new theory regarding the mechanisms responsible for auditory symptoms in patients with superior semicircular canal dehiscence and to explore related aspects of auditory physiology. Auditory symptoms were analyzed through 23 published reports. Auditory hypersensitivity occurred at a high frequency. They can be classified into two categories according to the sound source. (1) Symptoms caused by internal sources (without going through the stapes): hearing the movements of one's own eyeballs, pulsatile tinnitus and so on. (2) Symptoms caused by external sources: echoing of voices during phone calls, echoing of car horns, and so on. Auditory hypersensitivity can be explained by the endolymph conduction theory. The mechanism of sound perception may also be explained by this theory, in which sound waves are transmitted through the saccule, ductus reuniens, cochlear duct, tectorial membrane, stimulating hair cells.
Transcranial Photobiomodulation for Neuromodulation of Brain Disorders: A Perspective.
Photobiomodulation (PBM) uses light to modulate biological activity. Because red and near-infrared wavelengths penetrate the skin and skull, PBM can be applied transcranially (tPBM) to noninvasively modulate brain activity, offering therapeutic potential for neurologic, psychiatric, neurodevelopmental, neurodegenerative, and neuroimmunologic disorders, and for cognitive enhancement. A scoping review is performed integrating literature on tPBM in humans, excluding indications for which only preclinical data exist. tPBM can be delivered through the scalp, nose, oral cavity, or external ear canal, in continuous or pulsed modes, with varying wavelengths and doses. It exhibits a biphasic dose-response, meaning both under- and overstimulation are possible. tPBM directly enhances cellular energy metabolism, oxygenation, and neuroprotection by stimulating mitochondria, promoting repair, reducing apoptosis, and modulating neuroinflammation. It supports neurogenesis, synaptogenesis, angiogenesis, and microtubule plasticity, and activates the glymphatic clearance system. Additional effects include transient receptor potential vanilloid 1 calcium channel modulation, intercellular mitochondrial transfer, and immune cell recruitment. Preclinical studies indicate benefits in epilepsy, hypoxic-ischemic lesions, intraventricular hemorrhage, and posttraumatic stress disorder, whereas clinical studies cover stroke, traumatic brain injury, chronic traumatic encephalopathy, autism spectrum disorder, attention-deficit/hyperactivity disorder, Down syndrome, Alzheimer's and Parkinson's diseases, anxiety, depression, insomnia, sexual dysfunction, and multiple sclerosis. Optimal tPBM outcomes may depend on multitarget, multiwavelength approaches, and pulsed delivery, likely owing to complementary mechanisms and prevention of excessive reactive oxygen species production. Understanding the full range of illumination parameters is essential to develop personalized protocols. Future research should determine whether tPBM can serve as a standalone therapy or as part of multimodal interventions including pharmacology, psychotherapy, or other neuromodulation techniques.
Publicações recentes
Perilymphatic Fistula Revisited: A Histopathologic Study of Inner Ear Dehiscence and Possible Third Window Syndrome.
[Semicircular canal dehiscence syndrome: a variety of complaints and treatment difficulties].
Feingold syndrome with GJB2 variants.
Red colour of a painful ear: red ear syndrome in paediatric age.
Association Between Superior Canal Dehiscence Syndrome and Anxiety and Depressive Disorders.
📚 EuropePMCmostrando 198
Functional and Radiological Profile of Spontaneous Autoplugging in Superior Canal Dehiscence.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyPre-operative High-Resolution CT and MRI Evaluation in Pediatric Cochlear Implant Candidates: Correlation With Surgical Findings and Outcomes.
CureusHerpes Zoster Oticus: Systematic Review of Clinical Prognostic Factors.
International archives of otorhinolaryngologyA theoretical consideration of the mechanisms underlying auditory symptoms in patients with superior semicircular canal dehiscence syndrome.
Acta oto-laryngologicaTranscranial Photobiomodulation for Neuromodulation of Brain Disorders: A Perspective.
Neuromodulation : journal of the International Neuromodulation SocietyCase Report: Ramsay Hunt syndrome with simultaneous bilateral vestibular dysfunction as the initial manifestation in a patient with a history of breast cancer.
Frontiers in immunologyA Delayed Acute Vestibular Syndrome and Diplopia in Ramsay Hunt Syndrome With Absent Facial Nerve Paralysis After Partially Treated Varicella-Zoster Virus (VZV) Oticus.
CureusCochlear Implantation Via Extended Endaural Incision in a Patient With Congenital Ear Malformation.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyHuman otoacariasis by Amblyomma testudinarium identified with 16S rRNA gene sequencing.
Auris, nasus, larynxPerilymphatic Fistula Revisited: A Histopathologic Study of Inner Ear Dehiscence and Possible Third Window Syndrome.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyVestibular Aqueduct Hypoplasia Identifies Semicircular Canal Dehiscence Patients Who Progress to Meniere's Disease.
Otology & neurotology openA New Case of Nager Syndrome as a Rare Cause of Acrofacial Dysostosis.
Molecular syndromologyKissing Cochlea: An Extreme Inner Ear Malformation, Novel Surgical Approach via Cystic Vestibule.
The LaryngoscopeTmprss3 is expressed in several cell types of the inner ear including type II but hardly in type I spiral ganglion neurons.
Frontiers in cellular neurosciencePrevalence of the Huschke Foramen in Colombian Population: An Important Anatomic Alteration for the Planning of TMJ Arthroscopy.
Journal of maxillofacial and oral surgeryTemporal bone and multisystem phenotypic stratification in oculo-auriculo-vertebral spectrum using high-resolution CT: Correlation with tasse severity score.
European journal of radiologyVery Rare Case of Hyaline Fibromatosis Syndrome Successfully Treated with Surgical Excision and Review of Literature.
Archives of plastic surgery[Semicircular canal dehiscence syndrome: a variety of complaints and treatment difficulties].
Vestnik otorinolaringologiiCraniofacial fibrous dysplasia: Long-term postoperative outcomes in a retrospective case series with up to 40 years of follow-up.
BoneHemifacial spasms caused by compression of the labyrinthine artery on the facial nerve in the internal auditory canal: a case report and review of the literature.
Journal of medical case reports[Brooke-Spiegler syndrome: dermatosurgical management of extensive tumors on the external auditory canal].
Dermatologie (Heidelberg, Germany)Case report of a novel GREB1L gene mutation in a patient with branchio-oto-renal syndrome.
Journal of otologyPharyngolaryngeal Involvement by Varicella Zoster Virus: A Rare Case and Literature Review.
CureusSecondary Reinforcement of the Round Window to Treat Residual Hyperacusis in Patients With Superior Semicircular Canal Dehiscence Syndrome.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologySuperior canal dehiscence syndrome induces canal-specific kinematic adaptations during locomotion.
Scientific reportsRadiological Characterization of Malformations of the Internal Auditory Canal.
RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der NuklearmedizinSurgical management of otitis media in pet rabbits by partial ear canal ablation without bulla osteotomy: a retrospective study of 26 cases.
Journal of the American Veterinary Medical AssociationThe role of the window-damping test in preoperative decision-making for semicircular canal dehiscence syndrome.
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 SurgeryInfluence of obesity and socio-linguistic factors on otitis externa treatment outcomes in children.
International journal of pediatric otorhinolaryngologyAn Atypical Case of Varicella Meningitis in a Young Immunocompetent Male Patient With a Possible Concomitant Case of Ramsay-Hunt Syndrome.
CureusVestibular Deficit in Patients with Waardenburg Syndrome.
BiomedicinesEarly-Onset Ramsay Hunt Syndrome After Pembrolizumab Administration in a Patient With Lung Adenocarcinoma.
CureusA novel mouse model of acute vestibular dysfunction via semicircular canal injection of absolute ethanol.
Hearing researchDiagnosis and management of bilateral and multiple semicircular canal dehiscence: a case report.
The Pan African medical journalFeingold syndrome with GJB2 variants.
Auris, nasus, larynxSodium Channel Blockers for Vestibular Paroxysmia in Children.
Audiology researchHearing Loss Profiles in Sporadic and Familial Microtia: Clinical Insights From an Ecuadorian Cohort.
Birth defects researchEarly-Onset Hearing Loss in Leber's Hereditary Optic Neuropathy: A Case Report.
Ear, nose, & throat journalDizziness in postural tachycardia syndrome and its link to vestibular migraine.
Frontiers in neurologyCHARGE Syndrome in a Six-Month-Old Male Infant: A Case Report.
CureusDouble dehiscence (Superior semicircular canal and tegmen tympani) in the epicampaniform period (Arboli type).
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 SurgerySystematic Review on Microtia: Current Knowledge and Future Directions.
Children (Basel, Switzerland)Third Window Syndrome: An Up-to-Date Systematic Review of Causes, Diagnosis, and Treatment.
Journal of audiology & otology[Laparoscopic and robotic ultralow sphincter-saving operation and intersphincteric resection for rectal cancer:prevention and management for major complications].
Zhonghua wei chang wai ke za zhi = Chinese journal of gastrointestinal surgeryMucoepidermoid carcinoma of the parotid gland with invasion of the jugular foramen region: A case report.
MedicineUnmasking Villaret's syndrome: a diagnostic challenge of glomus jugulare mimicking mastoiditis.
Annals of medicine and surgery (2012)Red colour of a painful ear: red ear syndrome in paediatric age.
BMJ case reportsNervus intermedius sectioning for the treatment of geniculate neuralgia.
Journal of neurosurgeryAnalysis of 42 bilateral microtia reconstruction: Comparative study and surgical characteristics.
Journal of plastic, reconstructive & aesthetic surgery : JPRASCharacteristics of the Facial Canal-Lateral Canal Dehiscence: The Under-recognized Third Window.
OTO openA Case of McCune-Albright Syndrome with External Auditory Canal Stenosis Treated with Image-Guided Surgery System-Assisted Temporal Bone Surgery.
The journal of international advanced otologyVestibular paroxysmia: a systematic review.
Journal of neurologyFirst branchial cleft anomalies in children: long-term outcome in 16 patients.
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 SurgerySpectrum of Otological Manifestations in Treacher Collins Syndrome: A Case Series of 9 Patients.
Journal of computer assisted tomographyKnockout of dhx38 Causes Inner Ear Developmental Defects in Zebrafish.
BiomedicinesA Rare Case of Ramsey Hunt Syndrome With Cranial Polyneuropathy: Findings of the Brain MRI.
CureusOcular examinations before and after total ear canal ablation and bulla osteotomy can help recognize and prevent potential vision-threatening abnormalities in cats and dogs.
Journal of the American Veterinary Medical AssociationSelective otolithic dysfunction in patients presenting with acute spontaneous vertigo: consideration based on MRI.
Frontiers in neurologyInvestigation of Third Window Symptoms in Patients With Enlarged Vestibular Aqueduct: A Pilot Study.
OTO open[Effects of cochlear implantation on vestibular function in patients with large vestibular aqueduct syndrome].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryPediatric glossopharyngeal neuralgia with incidental trigeminal compression treated using microvascular decompression: illustrative case.
Journal of neurosurgery. Case lessonsNovel Otolaryngological and Radiological Manifestations in GAPO Syndrome.
Ear, nose, & throat journalAn Analysis of Hearing Outcomes in Children with Hutchinson-Gilford Progeria Syndrome.
British journal of hospital medicine (London, England : 2005)Audio-Vestibular Evaluation of Pediatric Pseudo-Conductive Hearing Loss: Third Window Syndromes.
Audiology research[Treacher Collins Syndrome 2 caused by a novel pathogenic variant in PLOR1D: clinical report and literature review].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgeryHemifacial spasms triggered by compression of tortuous anterior inferior cerebellar artery loop on the facial nerve in the internal auditory canal: A case report.
MedicineReduced unilateral sweating caused by varicella zoster virus infection: a case report.
BMC neurologySymptomatology in Unilateral Versus Bilateral Superior Canal Dehiscence Patients Undergoing Unilateral Surgery.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck SurgeryPrevalence of Anterior Inferior Cerebellar Artery Vascular Loop in Cerebellopontine Angle With Three-Dimensional Constructive Interference in Steady State (CISS) Sequence MRI.
CureusAssociation Between Superior Canal Dehiscence Syndrome and Anxiety and Depressive Disorders.
The LaryngoscopeMinor's syndrome: Dehiscence of the superior semicircular canal. A case report.
Radiology case reportsRamsay Hunt syndrome in atopic dermatitis patient treated with dupilumab.
International immunopharmacologyUnveiling the importance of the endoscope in the sealing of the superior canal dehiscence syndrome, how we do it.
NeurocirugiaDemographic, Functional, and Risk Factors Characterization in Ecuadorian Mestizo Patients With Microtia: A Retrospective Study.
The Journal of craniofacial surgeryCase 15-2024: A 73-Year-Old Woman with Worsening Rash.
The New England journal of medicineDiagnostic Yield of Patients Undergoing Evaluation of Possible Superior Canal Dehiscence.
The LaryngoscopeOtic Capsule Dehiscences Simulating Other Inner Ear Diseases: Characterization, Clinical Profile, and Follow-Up-Is Ménière's Disease the Sole Cause of Vertigo and Fluctuating Hearing Loss?
Audiology researchIdentification of a de novo PUF60 variant associated with craniofacial microsomia.
American journal of medical genetics. Part A[Clinical features and temporal CT findings in patients with Branchio-Oto-Renal or Branchio-Oto Syndrome].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgeryGenotype-phenotype associations in microtia: a systematic review.
Orphanet journal of rare diseasesPredictors of non-primary auditory and vestibular symptom persistence following surgical repair of superior canal dehiscence syndrome.
Frontiers in neurologyPerplexing First Branchialcleft Anomalies-A Case Series with Review of Literature.
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of IndiaCHD7 and SOX2 act in a common gene regulatory network during mammalian semicircular canal and cochlear development.
Proceedings of the National Academy of Sciences of the United States of AmericaGoldenhar syndrome with limbal neoformation, microtia and skeletal deformities: a case report and literature review.
BMC ophthalmologyZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Brain : a journal of neurologyAnalysis of etiology and clinical features of spontaneous downbeat nystagmus: a retrospective study.
Frontiers in neurologyGenetics and Epigenetics in the Genesis and Development of Microtia.
The Journal of craniofacial surgeryUnusual Atrophic Nervus Intermedius in a Patient with Refractory Nervus Intermedius Neuralgia and History of Ipsilateral Sudden-Onset Central Facial Palsy and Sensorineural Hearing Loss: Cadaveric-Clinical Images with Surgical Video.
World neurosurgeryCholesteatoma Severity Determines the Risk of Recurrent Paediatric Cholesteatoma More Than the Surgical Approach.
Journal of clinical medicine[Semicircular canal occlusion].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery[The application of endoscope and microscope in the stapes surgeries].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryCase report: A novel mutation in the EYA1 gene in a child with branchiootic syndrome with secretory otitis media and bilateral vestibular hypofunction.
Frontiers in geneticsDetailed analysis of inner ear malformations in CHARGE syndrome patients - correlation with audiological results and proposal for computed tomography scans evaluation methodology.
Brazilian journal of otorhinolaryngologyNarrowing of Low-Frequency Air-Bone Gap and Its Association with Symptom Resolution Following Superior Canal Dehiscence Repair.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck SurgeryThe "Near"-Narrowed Internal Auditory Canal Syndrome in Adults: Clinical Aspects, Audio-Vestibular Findings, and Radiological Criteria for Diagnosis.
Journal of clinical medicineApplications of visualizing cochlear basal turn in cochlear implantation.
Laryngoscope investigative otolaryngologyVascular variation of temporoparietal fascia in microtia associated with hemifacial microsomia.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryCerebellopontine angle tumor presenting as acute audiovestibular syndrome.
Acta oto-laryngologicaThird window lesions of the inner ear: A pictorial review.
American journal of otolaryngologyTrans-mastoid anchorage as a novelty in glenoid fossa reconstruction for hemifacial microsomia with agenesis of zygomatic arch and external acoustic meatus-Technical note with a case illustration.
Journal of stomatology, oral and maxillofacial surgeryA clinical epidemiological study on congenital ear malformation (CEM).
Acta oto-laryngologicaCri-Du-Chat Syndrome - A Rare Case Report.
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of IndiaHearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D-related Kabuki syndrome.
Molecular genetics & genomic medicineHearing Results after Transmastoid Superior Semicircular Canal Plugging for Superior Semicircular Canal Dehiscence: A Meta-Analysis.
Audiology researchAn evidenced-based diagnostic tool for superior semicircular canal dehiscence syndrome.
Journal of otologyClinical Features and Neurotologic Findings in Patients With Acute Unilateral Peripheral Vestibulopathy Associated With Antiganglioside Antibody.
NeurologyConductive Hearing Loss in Children.
Neuroimaging clinics of North AmericaSuperior canal dehiscence syndrome: A review.
Auris, nasus, larynxWhy should multiple dehiscences of the otic capsule be considered before surgically treating patients with superior semicircular canal dehiscence? A radiological monocentric review and a case series.
Frontiers in neurologyVulvar-vaginal-gingival-otic syndrome.
Experimental dermatologyHFA analysis using scalp electroencephalograms in two cases of Rasmussen's syndrome.
Epilepsy researchCase report: Villaret's syndrome caused by middle ear adenocarcinoma in a cat.
Frontiers in veterinary scienceCongenital Anomalies of the Ear Canal.
Otolaryngologic clinics of North America[Method of registration of vestibular myogenic evoked potentials in the diagnosis of diseases of the inner ear].
Vestnik otorinolaringologiiLateral semicircular canal dilatation in a patient with congenital hearing loss due to α-tectorin mutation: microanatomical considerations.
BMJ case reportsClinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review.
BiomedicinesDermatological Problems of Brachycephalic Dogs.
Animals : an open access journal from MDPIA bone-conducted Tullio phenomenon-A bridge to understand skull vibration induced nystagmus in superior canal dehiscence.
Frontiers in neurologyCharacteristics of large vestibular aqueduct syndrome in wideband acoustic immittance.
Frontiers in neuroscienceCochlear Aqueduct Morphology in Superior Canal Dehiscence Syndrome.
Audiology research[Atresia or severe stenosis of the external auditory canals with normal auricles in children].
Vestnik otorinolaringologiiOtolaryngologic Manifestations of Trisomy 13 and Trisomy 18 in Pediatric Patients.
The LaryngoscopeInfluence of extreme brachycephalic conformation on perioperative complications associated with total ear canal ablation and lateral bulla osteotomy in 242 dogs (2010-2020).
Veterinary surgery : VSAuditory and Vestibular Symptom Improvement With Surgery for Superior Canal Dehiscence Syndrome.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck SurgeryRare Coding Variants in Patients with Non-Syndromic Vestibular Dysfunction.
GenesTypes of Inheritance and Genes Associated with Familial Meniere Disease.
Journal of the Association for Research in Otolaryngology : JAROBonebridge Implantation in Treacher-Collins Syndrome With Conductive Hearing Loss-Case Report.
Ear, nose, & throat journal[Anomalous bony portion of the Eustachian tube].
Vestnik otorinolaringologiiSemi-Permanent Ear (Aguille SP) Needle "Migration" into the External Auditory Canal.
Medical acupunctureThree-dimensional wideband absorbance immittance findings in young adults with large vestibular aqueduct syndrome.
Laryngoscope investigative otolaryngologyVestibular Loss in Children Affected by LVAS and IP2 Malformation and Operated with Cochlear Implant.
Audiology researchInvestigation of serum calcium and vitamin D levels in superior semicircular canal dehiscence syndrome: A case control study.
Journal of otology[Analysis of molecular genetics and clinical characteristics of 3 children with Waardenburg syndrome].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryNew model of superior semicircular canal dehiscence with reversible diagnostic findings characteristic of patients with the disorder.
Frontiers in neurologyNovel noncanonical splice site variant causes mild CHD7-related disorder with variable intrafamilial expressivity.
American journal of medical genetics. Part AVOR gain of lateral semicircular canal using video head impulse test in acute unilateral vestibular hypofunction: A systematic review.
Frontiers in neurologyA novel three-step process for the identification of inner ear malformation types.
Laryngoscope investigative otolaryngologyDirection-changing spontaneous nystagmus in patients with dizziness.
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 SurgeryEffects of endolymphatic space volume on discrepancy of results between caloric test and video head impulse test.
Auris, nasus, larynxFeatures of Audio-Vestibular Deficit and 3D-FLAIR Temporal Bone MRI in Patients with Herpes Zoster Oticus.
VirusesHemorrhagic vestibular schwannoma: a case example of vestibular apoplexy syndrome. Illustrative case.
Journal of neurosurgery. Case lessonsOtalgia revealing McCune-Albright syndrome: A case report.
Annals of medicine and surgery (2012)Internal auditory canal volume in normal and malformed inner ears.
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[Management of microtia in children].
Revue medicale suisseProteus syndrome with sciatic nerve fibrolipomatous hamartoma: an uncommon finding in a rare disease: report of two cases with literature review.
BJR case reportsComparison of vestibular ocular reflex and gross motor development in children with semicircular canal aplasia and hypoplasia.
International journal of pediatric otorhinolaryngologyClinical and histopathological principles for the diagnosis of a recurrent paraganglioma of the jugular foramen initially diagnosed as a middle ear adenoma: illustrative case.
Journal of neurosurgery. Case lessonsA Novel Missense Variant in the TCOF1 Gene in one Chinese Case With Treacher Collins Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationClinical case control study analysis of vestibular function in patients with obstructive sleep apnea-hypopnea syndrome.
Annals of palliative medicineDevelopment of semicircular canal occlusion.
Frontiers in neuroscienceRamsay Hunt Syndrome With Cranial Polyneuropathy and Delayed Facial Nerve Palsy: A Case Report.
CureusPostmastoidectomy Hyperacusis Syndrome: Clinical Features and Treatment.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyA Case of Collet-Sicard Syndrome Caused by Otitis Externa.
CureusThe Narrowed Internal Auditory Canal: A Distinct Etiology of Pediatric Vestibular Paroxysmia.
Journal of clinical medicineMetastatic Ceruminous Adenoid Cystic Carcinoma of the Lumbar Spine Causing Neurological Compromise: A Case Report.
Geriatric orthopaedic surgery & rehabilitationDescription of a New Labyrinthine Dehiscence: Horizontal Semicircular Canal Dehiscence at the Tympanic Segment of the Facial Nerve.
Frontiers in neurologyCongenital aural atresia and first branchial cleft anomalies: Cholesteatoma and surgical management.
Laryngoscope investigative otolaryngologyVideo Head Impulse Test Findings in Patients With Benign Paroxysmal Positional Vertigo Secondary to Idiopathic Sudden Sensorineural Hearing Loss.
Frontiers in neurologyExploring the middle ear function in patients with a cluster of symptoms including tinnitus, hyperacusis, ear fullness and/or pain.
Hearing researchCochlear nerve deficiency in SOX11-related Coffin-Siris syndrome.
American journal of medical genetics. Part ACase Report: Fremitus Nystagmus in Superior Canal Dehiscence Syndrome.
Frontiers in neurologySuperior semi-circular canal dehiscence syndrome: quantifying the effectiveness of treatment from the patient's perspective.
The Journal of laryngology and otology[Otologic disorders and management strategies in Turner syndrome].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgeryContraction of the stapedius and tensor tympani muscles explored by tympanometry and pressure measurement in the external auditory canal.
Hearing researchAssociation of Ear Anomalies and Hearing Loss Among Children With 22q11.2 Deletion Syndrome.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck SurgeryPrevalence and surgical management of cholesteatoma in Down Syndrome children.
International journal of pediatric otorhinolaryngologyClinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?
European journal of medical genetics[Design and application of a cooling device based on the phase-change material for heat stroke].
Zhonghua wei zhong bing ji jiu yi xueClinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient.
BMC medical genomicsGenetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco.
Molecular biology reportsInner Ear Anomalies in Children With Apert Syndrome: A Radiological and Audiological Analysis.
The Journal of craniofacial surgeryBilateral cholesterol granulomas in the middle ear cavities of a cat with sinonasal disease successfully removed via video-otoscopy.
Journal of the American Veterinary Medical AssociationA case of focal cortical dysplasia type IIa with pathologically suspected bilateral Rasmussen syndrome.
Brain & developmentMechanical ventilation and middle ear effusions among tracheostomy-dependent children.
International journal of pediatric otorhinolaryngologyEtiologies of hearing loss in Fanconi Anemia.
International journal of pediatric otorhinolaryngologyHearing impairment and ear anomalies in craniofacial microsomia: a systematic review.
International journal of oral and maxillofacial surgerySuperior semicircular canal dehiscence syndrome.
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekkeKaposiform Hemangioendothelioma of Internal Auditory Canal Presenting in 4-Week-Old Newborn.
JAMA otolaryngology-- head & neck surgeryHearing Outcomes of Transmastoid Plugging for Superior Canal Dehiscence Syndrome by Underwater Endoscopic Surgery: With Special Reference to Transient Bone Conduction Increase in Early Postoperative Period.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyBilateral Superior Semicircular Canal Dehiscence Concurrent With Ehlers-Danlos Syndrome: A Case Report.
Cureus[Chronic otitis media complicated by Bezold's abscess and lateral sinus thrombophlebitis].
Le Mali medicalNeurotrophic corneal ulcer and iridocyclitis directly preceding Ramsay-Hunt Syndrome.
American journal of ophthalmology case reportsLow accuracy of 1.5 Tesla magnetic resonance imaging in identification of the bony defect in patients with superior semi-circular canal dehiscence syndrome: case-control study.
The Journal of laryngology and otologyAsymptomatic superior semicircular canal dehiscence.
The Journal of laryngology and otologyRamsay Hunt syndrome with multiple cranial neuropathy: a literature review.
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 novel method of identifying inner ear malformation types by pattern recognition in the mid modiolar section.
Scientific reportsIdentifying the Clinical Signs on the Healthy Side Using Video Head Impulse Test During Different Stages of Vestibular Neuritis.
The journal of international advanced otology[Superior canal dehiscence syndrome].
Revue medicale suisseA case report of refractory otalgia after Ramsay Hunt syndrome successfully treated by applying pulsed radiofrequency to the great auricular nerve: A CARE-compliant article.
MedicineWe refuse to die - T cells causing havoc.
Biomedical journalMusical hallucinations in cerebrovascular disease.
Postepy psychiatrii neurologiiAlternative Inverted Middle Fossa Approach in Bonebridge Surgery. Technique, Results and Complications.
International archives of otorhinolaryngology[Clinical and genetic analysis of a child with Niikawa-Kuroki syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsSelected Otologic Disorders Causing Dizziness.
Continuum (Minneapolis, Minn.)Metachronous Skull Base Paraganglioma Surgical Management: 2-Dimensional Operative Video.
Operative neurosurgery (Hagerstown, Md.)Bilateral Orbital Apex Syndrome Related to Sphenoid Fungal Sinusitis.
Ear, nose, & throat journalSimultaneous Sudden Hearing Loss and Peripheral Facial Paralysis in a Patient With Covid-19.
Ear, nose, & throat journalBehavioral Therapy for Muscular Objective Tinnitus in Forceful Eyelid Closure Syndrome (FECS): A Case Report.
The journal of international advanced otologyAssociações
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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.
- Functional and Radiological Profile of Spontaneous Autoplugging in Superior Canal Dehiscence.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology· 2026· PMID 41839798mais citado
- Pre-operative High-Resolution CT and MRI Evaluation in Pediatric Cochlear Implant Candidates: Correlation With Surgical Findings and Outcomes.
- Herpes Zoster Oticus: Systematic Review of Clinical Prognostic Factors.
- A theoretical consideration of the mechanisms underlying auditory symptoms in patients with superior semicircular canal dehiscence syndrome.
- Transcranial Photobiomodulation for Neuromodulation of Brain Disorders: A Perspective.Neuromodulation : journal of the International Neuromodulation Society· 2026· PMID 41642156mais citado
- Perilymphatic Fistula Revisited: A Histopathologic Study of Inner Ear Dehiscence and Possible Third Window Syndrome.
- [Semicircular canal dehiscence syndrome: a variety of complaints and treatment difficulties].
- Feingold syndrome with GJB2 variants.
- Red colour of a painful ear: red ear syndrome in paediatric age.
- Association Between Superior Canal Dehiscence Syndrome and Anxiety and Depressive Disorders.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:3023(Orphanet)
- OMIM OMIM:133705(OMIM)
- MONDO:0007587(MONDO)
- GARD:4638(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55780577(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.
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