Raras
Buscar doenças, sintomas, genes...
Síndrome de odontomatose-estenose da aorta e esôfago
ORPHA:2724CID-10 · D16.5OMIM 164330DOENÇA RARA

A síndrome odontoma-disfagia é uma síndrome de malformação, caracterizada por odontomas (massa indiferenciada do esôfago) e disfagia grave.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A síndrome odontoma-disfagia é uma síndrome de malformação, caracterizada por odontomas (massa indiferenciada do esôfago) e disfagia grave.

Publicações científicas
1 artigos
Último publicado: 2013 Jan

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
3
pacientes catalogados
Início
No data available
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D16.5
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🫃
Digestivo
2 sintomas
❤️
Coração
2 sintomas

+ 2 sintomas em outras categorias

Características mais comuns

90%prev.
Insuficiência hepática
Muito frequente (99-80%)
90%prev.
Disfagia
Muito frequente (99-80%)
90%prev.
Odontoma
Muito frequente (99-80%)
90%prev.
Aterosclerose
Muito frequente (99-80%)
17%prev.
Miocardite
Ocasional (29-5%)
17%prev.
Morfologia anormal do sistema cardiovascular
Ocasional (29-5%)
6sintomas
Muito frequente (4)
Ocasional (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 6 características clínicas mais associadas, ordenadas por frequência.

Insuficiência hepáticaHepatic failure
Muito frequente (99-80%)90%
DisfagiaDysphagia
Muito frequente (99-80%)90%
Odontoma
Muito frequente (99-80%)90%
AteroscleroseAtherosclerosis
Muito frequente (99-80%)90%
MiocarditeMyocarditis
Ocasional (29-5%)17%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico1PubMed
Últimos 10 anos148publicações
Pico201717 papers
Linha do tempo
2026Hoje · 2026📈 2017Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome de odontomatose-estenose da aorta e esôfago

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

A Presumed Dysphagia Aortica in a Siamese Cat.

Veterinary radiology &amp; ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association2026 Mar

A 5-year-old Siamese cat presented with acute regurgitation and vomiting. Multimodal imaging revealed a tortuous thoracic aorta causing extraluminal esophageal compression. This vascular anomaly shares features with a rare human syndrome known as dysphagia aortica. The absence of hypertensive cardiomyopathy suggested a congenital malformation, despite the delayed presentation. Endoscopy confirmed esophageal stenosis with ulcerative lesions secondary to a trichobezoar obstruction at the stenotic site. Conservative management led to clinical improvement. This report documents, to our knowledge, the first feline case of presumed dysphagia aortica of likely congenital origin, expanding the spectrum of vascular causes for esophageal obstruction.

#2

A case of Budd-Chiari syndrome with acute venous thrombosis and liver failure: highlighting the importance of early intervention and anticoagulation therapy.

Clinical journal of gastroenterology2025 Aug

Budd-Chiari syndrome is a rare and potentially fatal disorder characterized by obstruction or narrowing of the hepatic veins and inferior vena cava. The acute form of the disease often leads to rapid liver failure. In Asia, membranous obstruction of the hepatic portion of the inferior vena cava and localized stenosis at the hepatic venous origin are more common, while in Western countries, hepatic vein obstruction due to underlying thrombotic conditions is more prevalent. Treatment strategies vary and depend on disease severity and location. Anticoagulation therapy is the standard treatment in Western countries but is less commonly used in Japan where catheter-based interventions, such as recanalization, balloon dilation, and stenting, are more frequently employed. We report the case of a 51-year-old man diagnosed with Budd-Chiari syndrome after the treatment of esophageal varices. He initially responded well to nafamostat and balloon dilation, maintaining stability for 8 years, but later developed acute complications, including venous thrombosis and liver failure, despite previously stable follow-up. The patient succumbed to his condition despite aggressive treatment, highlighting the importance of early detection and intervention. This case underscores the need for clearer guidelines on anticoagulation therapy in Japan and emphasizes early management to improve prognosis.

#3

Platypnea-Orthodeoxia Syndrome After Esophageal Dilation in a Patient With a Dilated Ascending Aorta.

Circulation. Cardiovascular imaging2025 Feb
#4

Unravelling the Downhill Spiral: A Tale of Alcohol, Varices, and a Hidden Stenosis.

Journal of community hospital internal medicine perspectives2025

Downhill esophageal varices (EVs) were first described in 1964 by Felson and Lessure. They are rare with an incidence rate of 0.5 % in the general population. They usually develop due to an increase in pressure and/or obstruction of the superior vena cava (SVC) and rarely present with hematemesis. SVC syndrome, surgical ligation of the SVC, Castleman syndrome, pulmonary hypertension, and hypercontractile esophageal motility disorders can cause this. We report a case of downhill EVs in an older male with alcohol use disorder with incidental finding of SVC stenosis secondary to an old, unused chemotherapy port.

#5

Chinese clinical practice guidelines for super minimally invasive surgery of digestive tract tumors.

Journal of translational internal medicine2025 Dec

The mode of organ resection and reconstruction that has been used to treat digestive tract tumors (DTTs) can cure the disease. However, it involves the surgical resection of critical structures (such as the cardia, pylorus, and anus) and gastrointestinal reconstruction, which alter the physiological anatomy of the digestive system. These changes often lead to numerous postoperative complications and severely affect the patient's quality of life (e.g., refractory gastroesophageal reflux following proximal gastrectomy, dumping syndrome after subtotal gastrectomy, loss of anal function after low rectal surgery). For the defect of this mode, professor Linghu Enqiang proposed the new mode that was "curing the disease and restoring normal function" in 2016, which was named as this new mode: Super Minimally Invasive Surgery (SMIS). To accomplish various types of SMIS, four operative channels were developed: the natural cavity channel, the tunnel channel, the puncture channel, and the multi-cavity channel. SMIS, with its advantages of minimal trauma and organ function preservation, has been recognized by authoritative domestic and international organizations and has developed rapidly. Based on its clinical value and the need for wider application, there is an urgent need to establish standardized guidelines to guide practice. This guideline was developed by leading organizations such as the SMIS committee of World Endoscopy Organization (WEO) and Chinese Society of Digestive Endoscopy (CSDE), in collaboration with multidisciplinary experts from gastroenterology, general surgery, and pathology. Systematic searches were conducted in nine major databases, including PubMed, Embase, and China National Knowledge Infrastructure (CNKI), for both Chinese and English literature published before 2025. Evidence from randomized controlled trials (RCTs), observational studies, and case series was included, with the quality of evidence and recommendation strength evaluated using the GRADE system (high-level evidence:RCTs; low-level evidence: observational studies). The recommendations were refined through several rounds of expert discussions and voting, and were reported following the AGREE II and RIGHT reporting standards. This guideline has been registered on the PREPARE (Practice Guideline REgistration for transPAREncy; registration number: PREPARE-2024CN1183). This guideline addresses 15 issues related to SMIS treatment for esophageal cancer (EC), gastric cancer (GC), colorectal cancer (CRC), their corresponding precancerous lesions, and precancerous lesions of the duodenal papilla. It provides corresponding recommendations in three main areas: (1) Definitions and principles: SMIS should meet ten core criteria, including organ preservation, complete resection (R0), and sterile procedures. It also standardizes naming conventions (e.g., "Super minimally invasive non-full-thickness resection of lower esophageal squamous carcinoma via the oral cavity"). (2) Surgical recommendations: EC: For early and precancerous lesions, SMIS of non-full-thickness resection (non-FTR) is preferred. For circumferential involvement ≥ 1/2, SMIS via tunnel channel for non-FTR is recommended. If the wound circumference is ≥ 75%, the use of corticosteroids or stents to prevent stenosis is advised. GC: For T1a-T1b stage and precancerous lesions, SMIS non-FTR or full-thickness resection (FTR) is preferred, with individualized plans based on the risk of lymph node metastasis (LNM). CRC: SMIS of non-FTR or FTR is recommended as the first-line treatment for T1a-T1b stage and precancerous lesions. For locally advanced rectal cancer (LARC) that achieves clinical remission after neoadjuvant therapy, SMIS of FTR can be considered to assess pathological remission. Duodenal papilla precancerous lesions: SMIS resection via the oral cavity is preferred. Postoperatively, whether to add pancreaticoduodenectomy and follow-up strategies should be determined based on pathology. (3) Postoperative management: A SMIS treatment cure evaluation system for early gastric cancer (EGC) was established, divided into SMIS-Cure A(cured), SMIS-Cure B (clinically cured), and SMIS-Cure C (surgical reassessment), which guides follow-up. For CRC or precancerous lesions, R0 resection is the standard for cure, and follow-up plans are developed according to risk stratification. This guideline systematically integrates the evidence from SMIS in the treatment of DTTs with expert consensus, establishing a standardized pathway centered on organ function preservation. It shifts the treatment model from "cure first" to "cure-function balance". Its application is expected to reduce overtreatment, improve the patient's quality of life, and provide a framework for future technological iterations and the expansion of indications. It should be continuously optimized with multicenter clinical data and long-term follow-up results to achieve more precise, individualized treatment.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 147

2026

A Presumed Dysphagia Aortica in a Siamese Cat.

Veterinary radiology &amp; ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association
2025

Unravelling the Downhill Spiral: A Tale of Alcohol, Varices, and a Hidden Stenosis.

Journal of community hospital internal medicine perspectives
2025

Chinese clinical practice guidelines for super minimally invasive surgery of digestive tract tumors.

Journal of translational internal medicine
2025

Endoscopic Controlled Radial Expansion Balloon Dilatation in Infantile Achalasia: A Case Series of Four Infants.

Cureus
2025

Penetrating aortic ulcer following endoscopic dilatation of esophageal anastomotic stenosis: a case report.

Frontiers in surgery
2025

Clinical and Immunological Impact of JAK Inhibition in Concurrent Down Syndrome and STAT1 Gain of Function.

Journal of clinical immunology
2025

[Minimally invasive technologies in the treatment of spontaneous esophageal rupture].

Khirurgiia
2025

Surgical management of hiatal hernia in a 3-year-old child with asplenia syndrome, congenital heart disease, thoracic scoliosis, and intestinal malrotation: A case report.

International journal of surgery case reports
2025

Plummer-Vinson Syndrome in a Pakistani Woman: A Case Report.

Cureus
2025

Outcomes of Virtually Assisted Personalized Tracheostomy Tubes for Congenital Airway Anomalies.

The Laryngoscope
2025

A case of Budd-Chiari syndrome with acute venous thrombosis and liver failure: highlighting the importance of early intervention and anticoagulation therapy.

Clinical journal of gastroenterology
2025

Nissen fundoplication in patients with gastroesophageal reflux disease and ineffective esophageal motility.

Revista espanola de enfermedades digestivas
2025

Gastrointestinal disease in end-stage renal disease.

World journal of nephrology
2025

Milestone events in recessive dystrophic epidermolysis bullosa: findings of the PEBLES study.

Clinical and experimental dermatology
2025

Upper gastrointestinal triple stenosis in a patient with trisomy 17p syndrome: Case report and literature review.

DEN open
2024

Cold stress, heart failure, and esophageal occlusion cause the death of a West Indian manatee Trichechus manatus in Alabama, USA.

Diseases of aquatic organisms
2024

Case report: Rethinking NGS analysis in diagnosing Diamond-Blackfan anemia syndrome.

Frontiers in genetics
2024

Oncology safety of proximal gastrectomy for advanced Siewert II adenocarcinoma of the esophagogastric junction compared with total gastrectomy: a propensity score-matched analysis.

World journal of surgical oncology
2024

Innovative minimally invasive gastric pull-up techniques in children: SILS and robot-assisted gastric pull-up.

Pediatric surgery international
2025

Platypnea-Orthodeoxia Syndrome After Esophageal Dilation in a Patient With a Dilated Ascending Aorta.

Circulation. Cardiovascular imaging
2024

Successful novel use of dupilumab for gastrointestinal involvement of idiopathic hypereosinophilic syndrome: case report and review of the literature.

Clinical journal of gastroenterology
2024

Acute Esophageal Necrosis in a Patient With Severe Cardiovascular Disease and Arrhythmia.

Cureus
2024

Laparoscopic Median Arcuate Ligament Release During Gastric Tube Reconstruction in Subtotal Esophagectomy for a Patient With Esophageal Cancer Complicated by Median Arcuate Ligament Syndrome: A Case Report.

Cureus
2024

Pancreaticoduodenectomy after postoperative gastric tube reconstruction for esophageal cancer with median arcuate ligament syndrome: a case report.

Surgical case reports
2024

Serum anti‑KIAA0513 antibody as a common biomarker for mortal atherosclerotic and cancerous diseases.

Medicine international
2024

Are the complications after laparo-assisted endo-rectal pull-through for Hirschsprung disease related to the change of the anal tone?

La Pediatria medica e chirurgica : Medical and surgical pediatrics
2024

Management of non-cirrhotic variceal bleeding in pregnant women with Budd-Chiari syndrome in the early second trimester: A case report.

Narra J
2024

Cartilage within lipomyelomeningocele and ulnar longitudinal deficiency syndrome as VACTERL association, alliance in SHH/GLI3, and Wnt pathway: illustrative case.

Journal of neurosurgery. Case lessons
2024

Revisional surgery for persistent dysphagia plus Roux Y gastric bypass robot-assisted in a patient with obesity. About a case.

Journal of surgical case reports
2024

Progress in the treatment and prevention of esophageal stenosis after endoscopic submucosal dissection.

Clinics and research in hepatology and gastroenterology
2023

Boerhaave syndrome complicated by subsequent esophageal stenosis and esophageal fistula.

Kardiochirurgia i torakochirurgia polska = Polish journal of cardio-thoracic surgery
2024

[Endoscopic vacuum therapy in minimally invasive treatment of esophageal perforations].

Khirurgiia
2023

[Comparison of quality-of-life after proximal gastrectomy with double tract reconstruction versus gastric tube reconstruction in patients with proximal gastric cancer].

Zhonghua wei chang wai ke za zhi = Chinese journal of gastrointestinal surgery
2023

Successful resuscitation from acute coronary syndrome during mediastinoscope-assisted transhiatal esophagectomy: a case report.

General thoracic and cardiovascular surgery cases
2023

Endoscopic Glucocorticoid Injection for the Treatment of a Refractory Benign Esophageal Stenosis in a Patient With Plummer-Vinson Syndrome.

Cureus
2023

Autoimmune/inflammatory syndrome induced by adjuvants (ASIA), medical treatment of severe systemic compromise: case report.

Colombia medica (Cali, Colombia)
2023

Isoperistaltic gastric tube for long gap esophageal atresia (LGEA) in newborn, infants, and toddlers: a case-control study from a tertiary center.

Frontiers in pediatrics
2023

Improvement of esophagojejunostomy technique after total gastrectomy with overlap method: reduce the difficulty of surgery and shorten operation time.

Updates in surgery
2023

ICRI White Paper: An Update on Role of Conventional Radiography in Imaging of Pediatric Gastrointestinal Tract.

The Indian journal of radiology &amp; imaging
2023

Thoracoscopic-Assisted Esophageal Replacement with a Detached Reversed Gastric Tube Pedicled Graft: Technical Report and Preliminary Outcomes.

Journal of pediatric surgery
2023

Phenotypic variability and gastrointestinal manifestations/interventions for growth in NAA10-related neurodevelopmental syndrome.

American journal of medical genetics. Part A
2023

Case report: A rare case of sintilimab-induced gastric stenosis and literature review.

Frontiers in oncology
2023

Exploring the role of lipoprotein(a) in cardiovascular diseases and diabetes in Chinese population.

International journal of biological macromolecules
2022

Management of Cervical Tracheo-Esophageal Fistula by Lateral Cervical Approach: Our Experience'.

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India
2022

Superior mesenteric artery syndrome following esophageal cancer surgery: A report of two cases and a literature review.

Medicine international
2023

[Treatment of cicatricial tracheal stenosis and tracheoesophageal fistula in patients with COVID-19 pneumonia].

Khirurgiia
2023

In a Setting of Esophageal Replacement, Total Gastric Pull-Up has Fewer Complications than Partial Gastric Pull-Up.

Journal of pediatric surgery
2023

Acquired benign tracheo‑oesophageal fistula secondary to oesophageal stenting for post lye ingestion stenosis: A case report.

Experimental and therapeutic medicine
2023

An Unusual Case of Hematemesis.

Gastroenterology
2022

Effect of modified esophagectomy perioperative technique resection for patients with locally advanced esophageal cancer (tumor length > 8 cm): initial experience in 45 cases.

Journal of cardiothoracic surgery
2022

Chromosomal Abnormalities and Pregnancy Outcomes for Fetuses With Gastrointestinal Tract Obstructions.

Frontiers in pediatrics
2022

Perioperative complications following major vascular surgery. Correlations with preoperative clinical, electrocardiographic and echocardiographic features.

Acta bio-medica : Atenei Parmensis
2022

Physiological reno-portal bypass in liver transplantation with non-tumorous portal vein thrombosis.

Updates in surgery
2022

VACTERL syndrome with late presentation of annular pancreas with duodenal web: Case report.

Radiology case reports
2022

Ortner's Syndrome Due to Giant Thoracic Aortic Aneurysm.

The Journal of invasive cardiology
2022

Experimental model of portal hypertension and esophagogastric varices in minipigs: pressure and endoscopic pilot study.

Acta cirurgica brasileira
2022

Paradoxical Cerebral Air Embolism after Cardiac Ablation in Williams-Beuren Syndrome: A Clinico-Pathological Correlation.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
2022

Esophageal achalasia with severe malnutrition and liver enzyme elevation.

Clinical journal of gastroenterology
2022

Gastrointestinal Emergency in Neonates and Infants: A Pictorial Essay.

Korean journal of radiology
2022

Esophagectomy with Ileocoloplasty, Last Treatment for a Leak After Laparoscopic Sleeve: "From Less to More".

Obesity surgery
2022

Congenital anomalies of the large intrathoracic airways.

Paediatric anaesthesia
2021

Conservative treatment of Boerhaave's syndrome in an octogenarian complicated with late distal esophageal stenosis and successfully treated by stent placement.

Cirugia y cirujanos
2021

Intraoperative Endoscopy as an Adjuvant to Minimally Invasive Surgery in Pediatrics.

Journal of laparoendoscopic &amp; advanced surgical techniques. Part A
2021

Managing complications of percutaneous tracheostomy and gastrostomy.

Journal of thoracic disease
2021

An extraordinary rare anastomotic band causing food bolus obstruction following uneventful minimally invasive esophagectomy: endoscopic treatment.

Journal of surgical case reports
2023

Minimally Invasive Surgery for Median Arcuate Ligament Syndrome and Celiac Artery Stenosis.

The American surgeon
2021

Frequent occurrence of postbreakfast syncope due to carotid sinus syndrome after surgery for hypopharyngeal cancer: A case report.

Medicine
2021

Recurrent Hematemesis From Downhill Esophageal Varices: A Therapeutic Challenge for Gastroenterologists.

Cureus
2021

Successful management of anastomotic leakage with endoscopic fibrin glue injection after primary repair of pure oesophageal atresia.

BMJ case reports
2021

Acute oesophageal necrosis in multiple endocrine neoplasia type 1: an undescribed complication.

BMJ case reports
2021

Endoscopic management of enteral tubes in adult patients - Part 2: Peri- and post-procedural management. European Society of Gastrointestinal Endoscopy (ESGE) Guideline.

Endoscopy
2020

Surgical Management of Anterior Glottic Webs.

Frontiers in pediatrics
2021

Digestive Diseases in Brachycephalic Dogs.

The Veterinary clinics of North America. Small animal practice
2020

Treatment of Bouveret Syndrome Using an Ultrathin Gastroscope: Making the Best out of a Tight Situation!

The American journal of gastroenterology
2020

Subtotal stomach in esophageal reconstruction surgery achieves an anastomotic leakage rate of less than 1%.

Annals of gastroenterological surgery
2020

Functional outcome after laparoscopic assisted gastric transposition including pyloric dilatation in long-gap esophageal atresia.

Journal of pediatric surgery
2020

Major birth defects in the Brazilian side of the triple border: a population-based cross-sectional study.

Archives of public health = Archives belges de sante publique
2020

Myocardial infarction with non-obstructive coronary arteries: what is the prognosis?

European heart journal supplements : journal of the European Society of Cardiology
2021

Long-term intubation and high rate of tracheostomy in COVID-19 patients might determine an unprecedented increase of airway stenoses: a call to action from the European Laryngological Society.

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
2021

Gastric pull-up by the retrosternal route for esophageal replacement: Feasibility in a limited-resource scenario.

Journal of pediatric surgery
2020

Therapy-Related Acute Myeloid Leukemia 2 Months after Chemoradiotherapy for Esophageal Cancer: A Case Report.

Case reports in oncology
2020

Infantile hypertrophic pyloric stenosis in patients with esophageal atresia.

Birth defects research
2020

14 Years' experience of esophageal replacement surgeries.

Pediatric surgery international
2020

Feeding problems and gastrointestinal diseases in Down syndrome.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2019

Food fear, quick satiety and vomiting in a 16 years old girl: It's bulimia, or maybe not…? A case report of Wilkie's syndrome (superior mesenteric artery syndrome).

International journal of surgery case reports
2019

[A rare cause of dysphagia: Plummer Vinson syndrome associated with arteria lusoria].

Presse medicale (Paris, France : 1983)
2020

Bariatric Surgery and Its Complications in Inflammatory Bowel Disease Patients.

Inflammatory bowel diseases
2019

Eosinophilic esophagitis: Current concepts in diagnosis and treatment.

World journal of gastroenterology
2019

Acute esophageal necrosis: Case report of an unknown entity.

International journal of surgery case reports
2019

Claudication Caused By Stenosis of Arteria Lusoria-Case Report and Review of Literature.

Clinical medicine insights. Case reports
2019

Acute Esophageal Necrosis Following Orthotopic Liver Transplantation.

Cureus
2019

[Atypical skull base osteomyelitis suspected of spreading inflammation from the ear canal with unilateral multiple cranial neuropathy and cerebral infarctions].

Rinsho shinkeigaku = Clinical neurology
2020

Innovative management of severe tracheobronchomalacia using anterior and posterior tracheobronchopexy.

The Laryngoscope
2019

[Application of intracorporeal uncut Roux-en-Y anastomosis in digestive tract reconstruction after laparoscopic total gastrectomy].

Zhonghua wei chang wai ke za zhi = Chinese journal of gastrointestinal surgery
2019

Gastrointestinal involvement in Stevens-Johnson syndrome and toxic epidermal necrolysis: a retrospective case series.

The British journal of dermatology
2019

"Candy cane" syndrome: a report of a mini-invasive endoscopic treatment using OverStitch, a novel endoluminal suturing system.

Endoscopy
2019

Acute hemiparesis and status epilepticus following endoscopic esophageal balloon dilation: is it really a stroke?

Clinical journal of gastroenterology
2018

Image Diagnosis: Plummer-Vinson Syndrome: An Unusual Cause of Dysphagia.

The Permanente journal
2018

Multimodal Treatment Strategies for Esophageal Perforation.

Surgical laparoscopy, endoscopy &amp; percutaneous techniques
2019

Successful surgical treatment with tracheal resection for a symptomatic vascular ring in an adult.

General thoracic and cardiovascular surgery
2020

Congenital heart defects: the 10-year experience at a single center.

The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2018

Boerhaave syndrome due to hypopharyngeal stenosis associated with chemoradiotherapy for hypopharyngeal cancer: a case report.

Surgical case reports
2018

Esophagectomy in Patients with Human Immunodeficiency Virus and Acquired Immune Deficiency Syndrome: A Viable Option.

Seminars in thoracic and cardiovascular surgery
2019

Esophageal Intramural Pseudodiverticulosis With Tracking in a Child With Autosomal Dominant Hyper-IgE Syndrome.

Journal of pediatric gastroenterology and nutrition
2018

Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants.

American journal of medical genetics. Part A
2018

[Dysphagia from a gastroenterologist's perspective].

Deutsche medizinische Wochenschrift (1946)
2019

Nutritional role of amniotic fluid: clues from infants with congenital obstruction of the digestive tract.

Archives of disease in childhood. Fetal and neonatal edition
2018

Kindler syndrome in a patient with colitis and primary sclerosing cholangitis: coincidence or association?

Dermatology online journal
2018

A Novel Treatment of Nasal Stenosis Using Steel Gauging Earrings.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2017

Barogenic rupture of esophagus (Boerhaave syndrome) as diagnostic and therapeutic challenge requiring rapid and effective interdisciplinary cooperation - case report.

Polski przeglad chirurgiczny
2017

Congenital pharyngeal webs: Treatment of a rare clinical entity by endoscopic CO2 laser approach.

International journal of pediatric otorhinolaryngology
2017

Esophagocardioplasty, vagotomy-antrectomy and Roux-en-Y gastrojejunostomy: indication in cases with severe esophageal motor disfunction.

Diseases of the esophagus : official journal of the International Society for Diseases of the Esophagus
2017

A Case of Infective Endocarditis and Spinal Epidural Abscess Caused by Streptococcus mitis Bacteremia.

Case reports in infectious diseases
2017

Activated Braf induces esophageal dilation and gastric epithelial hyperplasia in mice.

Human molecular genetics
2017

Anaesthetic management of a patient with critical respiratory compromise resulting from procedure-induced broncho-oesophageal fistulation (BOF).

Journal of clinical anesthesia
2017

Breast cancer in a patient with Kindlers syndrome.

JPMA. The Journal of the Pakistan Medical Association
2017

Esophageal Stricture in a Child With Habit of Acidic Drinks.

The Journal of craniofacial surgery
2018

Pathophysiology of Eosinophilic Esophagitis.

Gastroenterology
2017

Dysphagia Due to Kindler Syndrome.

The American journal of gastroenterology
2017

Effect of Gastrointestinal Malformations on the Outcomes of Patients With Congenital Heart Disease.

The Annals of thoracic surgery
2017

Long-term functional outcomes after replacement of the esophagus in pediatric patients: A systematic literature review.

Journal of pediatric surgery
2017

Development of a Multidisciplinary Program to Expedite Care of Esophageal Emergencies.

The Annals of thoracic surgery
2017

A Rare Case of Downhill Esophageal Varices in the Absence of Superior Vena Cava Obstruction.

The American journal of gastroenterology
2017

A case of type 1 multiple endocrine neoplasia with esophageal stricture successfully treated with endoscopic balloon dilation and local steroid injection combined with surgical resection of gastrinomas.

BMC gastroenterology
2017

Gastric-tube versus whole-stomach esophagectomy for esophageal cancer: A systematic review and meta-analysis.

PloS one
2017

Early and late outcomes after surgical management of congenital vascular rings.

European journal of pediatrics
2016

[Gastric tube esophagoplasty using the retroesternal route in children].

Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica
2017

Management and outcome of esophageal stenting for spontaneous esophageal perforations.

Diseases of the esophagus : official journal of the International Society for Diseases of the Esophagus
2016

Bleeding 'downhill' esophageal varices associated with benign superior vena cava obstruction: case report and literature review.

BMC gastroenterology
2016

Evaluation of the intraoperative risk factors for esophageal anastomotic complications after primary repair of esophageal atresia with tracheoesophageal fistula.

Pediatric surgery international
2016

Electroincision for hypopharyngoesophageal stricture caused by Plummer-Vinson syndrome.

Gastrointestinal endoscopy
2016

Mutation Analysis of PRKAR1A Gene in a Patient with Atrial Myxoma.

Clinical laboratory
2016

Esophageal mucocele after surgical isolation of thoracic esophagus presenting with respiratory distress.

Tropical gastroenterology : official journal of the Digestive Diseases Foundation
2015

[Assessment of congenital vascular rings with MDCT on children].

Zhonghua yi xue za zhi
2016

Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up.

Pediatric neurology
2016

Functional outcome after Ivor Lewis esophagectomy for cancer.

Journal of surgical oncology
2015

Pregnancy outcomes following exposure to abatacept during pregnancy.

Seminars in arthritis and rheumatism
2014

Conservative treatment of esophageal perforation related to a peptic ulcer with pyloric stenosis.

Clinical journal of gastroenterology
2015

Huge Left Atrium Accompanied by Normally Functioning Prosthetic Valve.

The journal of Tehran Heart Center
2015

Neonatal respiratory distress syndrome revealing a cervical bronchogenic cyst: a case report.

BMC pediatrics
2015

Serratus anterior plane block: a new analgesic technique for post-thoracotomy pain.

Pain physician
2015

Epidermolysis bullosa of the esophagus--a case report.

Vojnosanitetski pregled
2015

Postpneumonectomy syndrome in a newborn after esophageal atresia repair.

International journal of surgery case reports
2015

Endoscopic management for congenital esophageal stenosis: A systematic review.

World journal of gastrointestinal endoscopy
2015

Etiology and management of esophageal food impaction: a population based study.

Scandinavian journal of gastroenterology
2015

A case of Kindler syndrome with severe esophageal stenosis.

International journal of dermatology
2015

Modified end-to-end anastomosis for the treatment of congenital tracheal stenosis with a bridging bronchus.

The Annals of thoracic surgery

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Síndrome de odontomatose-estenose da aorta e esôfago.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Síndrome de odontomatose-estenose da aorta e esôfago

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. A Presumed Dysphagia Aortica in a Siamese Cat.
    Veterinary radiology &amp; ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association· 2026· PMID 41787987mais citado
  2. A case of Budd-Chiari syndrome with acute venous thrombosis and liver failure: highlighting the importance of early intervention and anticoagulation therapy.
    Clinical journal of gastroenterology· 2025· PMID 40272714mais citado
  3. Platypnea-Orthodeoxia Syndrome After Esophageal Dilation in a Patient With a Dilated Ascending Aorta.
    Circulation. Cardiovascular imaging· 2025· PMID 39355917mais citado
  4. Unravelling the Downhill Spiral: A Tale of Alcohol, Varices, and a Hidden Stenosis.
    Journal of community hospital internal medicine perspectives· 2025· PMID 41658027mais citado
  5. Chinese clinical practice guidelines for super minimally invasive surgery of digestive tract tumors.
    Journal of translational internal medicine· 2025· PMID 41438469mais citado
  6. The original family revisited after 37 years: odontoma-dysphagia syndrome is most likely caused by a microduplication of chromosome 11q13.3, including the FGF3 and FGF4 genes.
    Clin Oral Investig· 2013· PMID 22297612recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2724(Orphanet)
  2. OMIM OMIM:164330(OMIM)
  3. MONDO:0008118(MONDO)
  4. GARD:238(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q7077978(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

Compêndio · Raras BR

Síndrome de odontomatose-estenose da aorta e esôfago

ORPHA:2724 · MONDO:0008118
Prevalência
<1 / 1 000 000
Casos
3 casos conhecidos
CID-10
D16.5 · Neoplasia benigna do osso da mandíbula
Início
No data available
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1834013
Wikidata
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades