Raras
Buscar doenças, sintomas, genes...
Síndrome de linfedema-defeitos do septo auricular-alterações faciais
ORPHA:86915CID-10 · Q87.8CID-11 · BD93.0OMIM 601927DOENÇA RARA

A síndrome linfedema-comunicação interatrial-alterações faciais é caracterizada por linfedema congênito dos membros inferiores, comunicação interatrial e fácies característica (face redonda com testa proeminente, ponte nasal plana com ponta nasal larga, pregas epicânticas, lábio superior fino e queixo fendido). Foi descrito em dois irmãos e uma irmã. A transmissão parece ser autossômica recessiva.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A síndrome linfedema-comunicação interatrial-alterações faciais é caracterizada por linfedema congênito dos membros inferiores, comunicação interatrial e fácies característica (face redonda com testa proeminente, ponte nasal plana com ponta nasal larga, pregas epicânticas, lábio superior fino e queixo fendido). Foi descrito em dois irmãos e uma irmã. A transmissão parece ser autossômica recessiva.

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
5
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Sinais e sintomas

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

Partes do corpo afetadas

😀
Face
7 sintomas
❤️
Coração
5 sintomas
🩸
Sangue
1 sintomas
🦴
Ossos e articulações
1 sintomas
📏
Crescimento
1 sintomas

+ 8 sintomas em outras categorias

Características mais comuns

Defeito do septo atrial
Hidrocele testicular
Hidropsia fetal
Flutter atrial
Aorta cavalgante
Fissura palpebral ascendente
23sintomas
Sem dados (23)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 23 características clínicas mais associadas, ordenadas por frequência.

Defeito do septo atrialAtrial septal defect
Hidrocele testicularHydrocele testis
Hidropsia fetalHydrops fetalis
Flutter atrialAtrial flutter
Aorta cavalganteOverriding aorta

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202333 papers
Linha do tempo
2026Hoje · 2026📈 2023Ano 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 linfedema-defeitos do septo auricular-alterações faciais

🗺️

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.

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Ensaios clínicos abertos e novidades científicas recentes

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Protocol for an open-label, randomised, controlled trial to evaluate the efficacy and safety of sotatercept add-on therapy compared with pulmonary vasodilator-based standard of care for pulmonary vasodilator-resistant pulmonary arterial hypertension associated with unrepaired congenital shunts (atrial septal defect, ventricular septal defect or patent ductus arteriosus), including Eisenmenger syndrome: the SuMILE trial.

BMJ open2026 Mar 12

Eisenmenger syndrome and pulmonary arterial hypertension (PAH) due to unrepaired congenital shunts, including atrial septal defect (ASD), ventricular septal defect (VSD) and patent ductus arteriosus (PDA), remain life-threatening conditions despite advances in congenital heart disease (CHD) care. In this population, vasodilator-based therapies effective in other forms of PAH have shown limited benefit, and no disease-modifying treatment has been established. Sotatercept, an activin-signalling inhibitor, improved exercise capacity and haemodynamics in phase 2/3 PAH trials; however, patients with unrepaired CHD, including Eisenmenger syndrome, were excluded. The efficacy and safety of sotatercept in this population remain unknown. The SuMILE trial is a prospective, exploratory, multicentre, open-label, randomised, controlled trial conducted at 11 Japanese tertiary centres. 36 adults with vasodilator-resistant PAH due to unrepaired ASD, VSD or PDA, including Eisenmenger syndrome, will be randomised 2:1 to sotatercept add-on therapy plus vasodilator-based PAH therapy versus vasodilator-based PAH therapy alone. Sotatercept will be administered subcutaneously every 3 weeks in accordance with label-approved dose-modification rules for haemoglobin and platelet changes. The primary endpoint is the change in 6-min walk distance from baseline to week 24. Key clinical events will be independently adjudicated. Secondary endpoints include all-cause mortality or lung transplantation; pulmonary hypertension-related hospitalisation or initiation of parenteral prostacyclin and changes in WHO functional class, N-terminal pro-brain natriuretic peptide and emPHasis-10. Exploratory endpoints include genotype, right heart catheterisation and cardiac MRI parameters. The primary analysis will use ANCOVA, adjusting for baseline 6-min walk distance and randomisation stratum in the intention-to-treat population. The protocol has been reviewed and approved by the certified central review board (Kyushu University Hospital Clinical Ethics Review Board) and participating institutions. Written informed consent will be obtained from all participants. Findings will be disseminated through peer-reviewed journals, scientific conferences and trial registries. Japan Registry of Clinical Trials no. 1071250069; ClinicalTrials.gov NCT07356778. Protocol version and date: V.1.3; 23 October 2025.

#2

Unraveling cardiac anomalies in pediatric neurofibromatosis type 1: insights and implications.

European journal of pediatrics2026 Jan 15

Neurofibromatosis type 1 (NF1) is an autosomal dominant syndrome caused by mutations in the NF1 gene. Although cardiac abnormalities have been observed in NF1, they are frequently overlooked due to a lack of routine cardiac surveillance. Myocardial strain imaging offers a sensitive and non-invasive method for detecting early subclinical myocardial dysfunction. This study aims to detect cardiac abnormalities in children with NF1 using conventional echocardiography, Doppler tissue imaging (DTI), and myocardial strain analysis. A case-control study was conducted on 38 asymptomatic children with clinically confirmed NF1 and 35 healthy, age- and sex-matched controls. All patients underwent ECG, conventional echocardiography, DTI, and two-dimensional speckle-tracking echocardiography. NF1 patients showed significantly decreased ejection fraction (p = 0.0009) and higher interventricular septal and posterior wall thickness during systole (p < 0.0001). DTI revealed reduced mitral systolic (Sm) and early diastolic (Em) velocities, longer isovolumic contraction and relaxation periods, and increased LV Tei index values (p < 0.0001), indicating combined systolic and diastolic dysfunction. Also, myocardial strain analysis in NF1 children revealed considerably lower peak systolic left ventricular global longitudinal strain (LVGLS) (p 0.0014), as well as lower peak systolic septal and lateral wall strain values (p 0.0046, 0.0027), respectively. Conclusion: Children with NF1 show early subclinical myocardial dysfunction, even when there is no hypertension or overt cardiac symptoms. These findings highlight the significance of frequent echocardiographic screening, including strain imaging, for the early diagnosis and longitudinal monitoring of heart function in NF1 children.  What is Known: • Neurofibromatosis type 1 (NF1) is a multisystem syndrome that can involve the cardiovascular system. • Previous studies showed hypertrophic cardiac changes in NF1 patients, but data in children, especially those without hypertension, are limited, as routine echocardiography is not involved in NF1 management. What is New: • Our study revealed early subclinical myocardial dysfunction in NF1 children without the presence of hypertension or overt cardiac symptoms. • This emphasizes the potential of myocardial strain imaging as a sensitive tool for early detection of myocardial dysfunction in NF1 children, thereby supporting the need for routine echocardiographic surveillance in these patients.

#3

Influence of atrial septal defect on mitral valve growth after repair of coarctation of the aorta or an interrupted aortic arch in infants.

Clinical and experimental pediatrics2026 Jan 13

Patients with coarctation of the aorta (CoA) and an interrupted aortic arch (IAA) may present with small mitral valves (MVs) and a reduced left ventricular (LV) volume. Biventricular repair (BVR) in these patients is dependent on adequate size of the left cardiac structures. This study evaluated the impact of the hemodynamic characteristics of atrial septal defects (ASDs) on MV growth following surgical repair. We retrospectively reviewed the data of patients diagnosed with CoA or IAA between 2007 and 2024. The z score for MV size measured 6 months postoperatively (Z2) was compared with the preoperative MV size (Z1). The factors associated with MV growth were also studied. A total of 161 patients with CoA or IAA were included. Transthoracic echocardiography was used to assess the MV and LV dimensions preoperatively and 6 months postoperatively. Of the cohort, 155 (96.3%) underwent initial BVR and 6 underwent single-ventricle palliation. MV z scores significantly increased following BVR (mean change: +0.45±1.35; P<0.001) but decreased after single-ventricle repair (-0.56±0.49, P=0.04). Multivariate analysis identified the initial MV z score and ASD pressure gradient as independent predictors of MV growth (R²=0.39). Annular growth of the MV was not observed in patients who underwent single-ventricle palliation. In contrast, among patients who achieved BVR, those with a small preoperative MV annulus and low ASD pressure gradient demonstrated subsequent catch-up MV growth, suggesting that adequate left-sided preload is essential for MV development.

#4

Chronic suppression of monoacylglycerol lipase restores adult neurogenesis in the septal but not the temporal DG in Ts65Dn mouse model of Down syndrome.

Brain research bulletin2026 Jan

Down syndrome (DS) is a genetic disorder characterized by cognitive impairment and varying degrees of changes in emotion-related behaviors. A deficiency in adult hippocampal neurogenesis is among the cellular mechanisms implicated in both abnormalities. Previously, we observed that chronic inhibition of monoacylglycerol lipase (MAGL) with the selective inhibitor JZL184 increased brain levels of the endocannabinoid 2-arachidonoylglycerol (2-AG), improved hippocampal synaptic plasticity and long-term memory, but did not affect anxiety-related thigmotactic behavior in Ts65Dn mice, a genetic model of DS. In this study, we tested the hypothesis that these effects of JZL184 might be associated with changes in adult hippocampal neurogenesis. Ts65Dn mice and their normosomic (2 N) littermates were injected daily for 3 weeks with JZL184 or vehicle, and bromodeoxyuridine (BrdU) was co-administered during the chronic phase of the treatment. BrdU-immunopositive cells were quantified in the septal, medial, and temporal segments of the dentate gyrus (DG). It was observed that both the total number and the density of BrdU-positive cells were significantly reduced in Ts65Dn mice compared to their 2 N littermate controls. Strikingly, JZL184 treatment effects exhibited a profound septo-temporal bias: the BrdU-immunopositive cell density was restored to near control levels in the septal DG (a region presumably linked to cognitive function), but it was largely unaffected in the temporal DG (presumably associated with emotion-related behaviors). These results suggest that chronic MAGL inhibition may provide a targeted region-specific therapeutic strategy for cognitive impairment in Down syndrome, potentially independent of its effects on emotional behavior.

#5

Pediatric floating-harbor syndrome: clinical features and treatment outcomes in a cohort of Chinese children.

European journal of pediatrics2026 Jan 03

Floating-Harbor syndrome (FHS) is a rare disorder characterized by facial dysmorphism, short stature, and delayed language development. We evaluated the clinical features and treatment outcomes of 10 Chinese children with FHS who received recombinant human growth hormone (rhGH) therapy or nutritional intervention. We retrospectively extracted the clinical features, height standard deviation score (SDS), genetic characteristics, and treatment outcomes from the medical records of 10 Chinese children with FHS. The treatment response was classified as good, moderate, or poor based on annual height SDS change and height velocity. All patients presented with short stature at diagnosis, distinct facial features, and non-specific skeletal abnormalities. All patients had delayed language development, feeding difficulties, intellectual disability, and diverse organ abnormalities. Whole-exome sequencing (WES) identified pathogenic or likely pathogenic variants in exon 34 of SRCAP, and eight mutations were identified, including three variants (c.7225dupG;p.Ala2409GlyfsTer34, c.7382delC;p.Pro2461GlnfsTer 14, and c.7255C > T;p.Gln2419Ter) that had not been previously reported in case reports. Eight patients were treated with rhGH, six of whom demonstrated good responses, one a moderate response, and one a poor response. One patient with a contraindication to rhGH treatment achieved meaningful height SDS improvement after nutritional therapy. Although FHS is a rare condition, we characterized its clinical features in a Chinese patient cohort. RhGH improved height in most patients, and nutritional optimization appeared to support growth in one child. • Floating-Harbor syndrome (FHS) is a rare genetic disorder characterized by facial dysmorphism and short stature, and it is often treated with growth hormone. The majority of documented cases of FHS have historically been concentrated within Western populations. The number of cases reported in Asian countries remains small. • We report three SRCAP variants that have not been previously documented in case reports among 10 Chinese children with FHS. Most children showed favorable short-term responses to recombinant human growth hormone, and one child demonstrated an improvement in height standard deviation score with structured nutritional therapy alone.

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Protocol for an open-label, randomised, controlled trial to evaluate the efficacy and safety of sotatercept add-on therapy compared with pulmonary vasodilator-based standard of care for pulmonary vasodilator-resistant pulmonary arterial hypertension associated with unrepaired congenital shunts (atrial septal defect, ventricular septal defect or patent ductus arteriosus), including Eisenmenger syndrome: the SuMILE trial.

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

Unraveling cardiac anomalies in pediatric neurofibromatosis type 1: insights and implications.

European journal of pediatrics
2026

Influence of atrial septal defect on mitral valve growth after repair of coarctation of the aorta or an interrupted aortic arch in infants.

Clinical and experimental pediatrics
2026

Chronic suppression of monoacylglycerol lipase restores adult neurogenesis in the septal but not the temporal DG in Ts65Dn mouse model of Down syndrome.

Brain research bulletin
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Pediatric floating-harbor syndrome: clinical features and treatment outcomes in a cohort of Chinese children.

European journal of pediatrics
2026

Aberrant tissue mechanics and mechanotransduction during heart development in down syndrome.

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Pseudo-Anterior ST-Elevation Myocardial Infarction Due to Hypertrophic Cardiomyopathy.

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Anesthetic management of Platypnea-orthodeoxia syndrome in a young patient with residual atrial septal defect following congenital heart surgery.

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The American journal of emergency medicine
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Comparison of Valvular and Ventricular Function After Right Ventricular, Leadless, Deep Septal, and Left Bundle Branch Area Pacemakers.

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Cardiac Manifestations and Persistent Myocardial Dysfunction in Multisystem Inflammatory Syndrome in Children: Insights from Conventional and Strain Echocardiography.

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The Coronary Artery Changes and Complications Caused by Takotsubo Syndrome: A Review With Novel Observations.

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Mature Cleft Rhinoplasty: Morphologic Outcomes of Septal Cartilage Grafting.

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Clinical Impact of Nasal Obstructive Syndrome and Its Current Management Strategies.

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Platypnoea-orthodeoxia syndrome following transcatheter aortic valve implantation complicated by aortic annular rupture: a case report.

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Phenotypic Presentation and Longitudinal Characterization of Hereditary ATTRv Amyloidosis in Previously Undiagnosed Family Members.

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Atrial Septal Defect With Right-to-Left Shunt Without Pulmonary Hypertension: Diagnosis Through Multimodality Imaging.

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Positional Changes in Right Atrial Pressure Before and After PFO Closure in Platypnea-Orthodeoxia Syndrome.

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Comparative Analysis of Coronary Artery Anomalies Originating From the Pulmonary Artery: Clinical Presentation, Imaging Findings, and Surgical Outcomes in Diverse Age Groups.

Heart, lung &amp; circulation
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Platypnea-Orthodeoxia Syndrome (POS): A Retrospective Study of Percutaneous Closure of the Foramen Ovale in a Single Center.

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography &amp; Interventions
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Opioid-driven disruption of the septum reveals a role for neurotensin-expressing neurons in withdrawal.

Neuron
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The value of echocardiography in the staging of preexcitation syndrome and the assessment of left ventricular wall dyskinesia in children.

Frontiers in pediatrics
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Cryptococcus neoformans in Chronic Lymphocytic Leukemia (CLL) Treated With Ibrutinib: A Combo Gone Wrong!

Cureus
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Insulin-like growth factor binding protein-3 (IGFBP-3): a biomarker of coronary artery disease induced myocardial ischaemia.

European heart journal open
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Lutembacher syndrome with congenital atrial septal defect in an 18-year-old female: a rare case report.

Annals of medicine and surgery (2012)
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ANCA Negative Vasculitis Manifesting as Pulmonary-Renal Syndrome in a Patient with Chronic Osteomyelitis.

The Journal of the Association of Physicians of India
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Autism spectrum disorder and 3p24.3p23 triplication: a case report.

Journal of medical case reports
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The chick embryo model as an educational tool to explore the effect of alcohol on cardiovascular development.

Advances in physiology education
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Case report: Eisenmenger syndrome in a dog with ventricular septal defect: long term management and complications.

Frontiers in veterinary science
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Comparison of Nasal Airways After Classical Structural Rhinoplasty and Dorsal Preservation Rhinoplasty.

Ear, nose, &amp; throat journal
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Rebuttal to "Comment on: Early Post-operative ECG Changes as a Predictor of Post-pericardiotomy Syndrome Following Atrial Septal Defect Repair".

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2024

Practice variation using the hybrid stage I procedure in congenital heart disease: Results from a national survey.

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

World journal of pediatrics : WJP
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A patient with unexplained hypoxemia after a fall diagnosed with platypnea orthodeoxia syndrome: approaches to resolving discrepancies between level of hypoxemia and clinical presentation.

Canadian journal of anaesthesia = Journal canadien d'anesthesie
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Differential postnatal cardiovascular course of donor-recipient twins and associated pathophysiology-a cohort study.

American journal of physiology. Heart and circulatory physiology
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ST-segment elevation in V1-4 in takotsubo cardiomyopathy with ventricular septal perforation: A case report and literature review.

Heliyon
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Current evidence of unicuspid aortic valve in young adults: A systematic review and metanalysis.

Current problems in cardiology
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Surgical outcome of the borderline hypoplastic left ventricle: impact of the left ventricle rehabilitation strategy.

Cardiology in the young
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Impact of the transpulmonary pressure on right ventricle impairment incidence during acute respiratory distress syndrome: a pilot study in adults and children.

Intensive care medicine experimental
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Post-COVID Interstitial Lung Disease: How do We Deal with This New Entity?

Balkan medical journal
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Outcomes of Adults With Unrepaired Partial Anomalous Pulmonary Venous Return and Intact Atrial Septum.

Journal of the American Heart Association
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Deceptive Anteroseptal ST-segment Elevation and Brugada Pattern Caused by Isolated Conus Artery Occlusion.

Arquivos brasileiros de cardiologia
2024

Atrial septal defect becoming clinically evident after cardiac surgery for annuloaortic ectasia: a case report.

European heart journal. Case reports
2024

Delayed diagnosis of Loeys-Dietz syndrome revealed through atrial septal defect with pulmonary artery dilation.

Echocardiography (Mount Kisco, N.Y.)
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Vacterl syndrome: Medical and stomatological considerations for comprehensive patient management.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
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Long-term outcomes of survivors with influenza A H1N1 virus-induced severe pneumonia and ARDS: a single-center prospective cohort study.

Frontiers in cellular and infection microbiology
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Porto-sinusoidal Vascular Disease: Classification and Clinical Relevance.

Journal of clinical and experimental hepatology
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Early Post-operative ECG Changes as a Predictor of Post-pericardiotomy Syndrome Following Atrial Septal Defect Repair.

Pediatric cardiology
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Contribution of collagen XIII to lung function and development of pulmonary fibrosis.

BMJ open respiratory research
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Evaluation of all-cause mortality and cardiovascular safety in patients receiving chimeric antigen receptor T cell therapy: a prospective cohort study.

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Short- and Long-Term Chest-CT Findings after Recovery from COVID-19: A Systematic Review and Meta-Analysis.

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Trends of mortality rate in patients with congenital heart defects in Germany-analysis of nationwide data of the Federal Statistical Office of Germany.

Clinical research in cardiology : official journal of the German Cardiac Society
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National population-based estimates for major birth defects, 2016-2020.

Birth defects research
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Right ventricular injury in critically ill patients with COVID-19: a descriptive study with standardized echocardiographic follow-up.

Annals of intensive care
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Five years of safety profile of bevacizumab: an analysis of real-world pharmacovigilance and randomized clinical trials.

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Utility of Konar-Multifunctional Occluder in Complex Situations: Unconventional Uses in Rare Situations.

Pediatric cardiology
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A Case of Porto-Sinusoidal Vascular Disease.

European journal of case reports in internal medicine
2023

Salvianolic acid A alleviates heart failure with preserved ejection fraction via regulating TLR/Myd88/TRAF/NF-κB and p38MAPK/CREB signaling pathways.

Biomedicine &amp; pharmacotherapy = Biomedecine &amp; pharmacotherapie
2023

Diagnostic, prognostic and clinical value of left ventricular radial strain to identify paradoxical septal motion in ventilated patients with the acute respiratory distress syndrome: an observational prospective multicenter study.

Critical care (London, England)
2023

Association between Covid-19 infection and platypnea-orthodeoxia syndrome.

Annals of medicine and surgery (2012)
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Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature.

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Pulmonary interstitial glycogenosis in Birt-Hogg-Dubé syndrome-associated lung cysts: A new insight into the pathogenesis?

Pathology international
2023

[New coronavirus infection as a provoking factor for the clinical manifestation of Bland-White-Garland syndrome (case report)].

Angiologiia i sosudistaia khirurgiia = Angiology and vascular surgery
2023

Platypnea-Orthodeoxia Syndrome: Two Case Reports.

Cureus
2023

Differential effects of two-hit models of acute and ventilator-induced lung injury on lung structure, function, and inflammation.

Frontiers in physiology
2023

Preoperative versus postoperative survival in patients with univentricular heart: a nationwide, retrospective study of patients born in 1990-2015.

BMJ open
2023

Semi-automated quantification of tricuspid valve dynamics and structure in tetralogy of Fallot and hypoplastic left heart syndrome using three-dimensional echocardiography.

Echo research and practice
2024

Stenting of native right ventricular outflow tract obstructions in symptomatic infants: histological work-up of explanted specimen.

Cardiology in the young
2025

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2023

Fatal Association of Eisenmenger Syndrome and Severe Preeclampsia.

Cureus
2023

Generation of three CRISPR/Cas9 edited human induced pluripotent stem cell lines (DHMi005-A-5, DHMi005-A-6 and DHMi005-A-7) carrying a Holt-Oram Syndrome patient-specific TBX5 mutation with known cardiac phenotype and a FLAG-tag after exon 9 of the TBX5 gene.

Stem cell research
2023

Basal forebrain cholinergic neurons are vulnerable in a mouse model of Down syndrome and their molecular fingerprint is rescued by maternal choline supplementation.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2023

Impact of a prenatal screening program on the Down syndrome phenotype: An interrupted time series analysis.

Acta obstetricia et gynecologica Scandinavica
2023

Central Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Col4a1 Variant.

The American journal of case reports
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Clinical utility of repeat fetal echocardiography in congenital heart disease.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
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Neurological, Extracardiac, and Cardiac Manifestations of Ebstein's Anomaly Along With its Genetics, Diagnostic Techniques, Treatment Updates, and the Future Ahead.

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2023

Myocardial oedema contributes to interstitial expansion and associates with mechanical and electrocardiographic changes in takotsubo syndrome: a CMR T1 and T2 mapping study.

European heart journal. Cardiovascular Imaging
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Metabolic syndrome - cardiac structure and functional analysis by echocardiography; a cross sectional comparative study.

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The Risk Factors and Outcomes for Radiological Abnormalities in Early Convalescence of COVID-19 Patients Caused by the SARS-CoV-2 Omicron Variant: A Retrospective, Multicenter Follow-up Study.

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BMC veterinary research
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Whole exome sequencing with a focus on cardiac disease-associated genes in families of sudden unexplained deaths in Yunnan, southwest of China.

BMC genomics
2023

Monthly transthoracic echocardiography in young adults for 6 months following SARS-CoV-2 infection.

Physiological reports
2023

Multi-vessel giant coronary artery aneurysms: An unusual cause of chest pain.

Radiology case reports
2022

Five critically ill pregnant women/parturients treated with extracorporeal membrane oxygenation.

Journal of cardiothoracic surgery
2023

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Poultry science
2024

Force Profiles of Single Ventricle Atrioventricular Leaflets in Response to Annular Dilation and Leaflet Tethering.

Seminars in thoracic and cardiovascular surgery
2022

Management and outcomes of ventricular septal defects after acute myocardial infarction: A multicenter retrospective study.

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2023

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Pediatric nephrology (Berlin, Germany)
2023

Neonatal mortality and morbidity in Down syndrome in the time of prenatal aneuploidy testing: a retrospective cohort study.

European journal of pediatrics
2023

Gillessen-Kaesbach-Nishimura syndrome in two fetuses from Turkey.

American journal of medical genetics. Part A
2021

[Takotsubo syndrome after palliative transcatheter treatment of acquired aortic stenosis in patient with congenital ventricular septal defect. Case report].

Terapevticheskii arkhiv
2022

Trans-catheter closure of ASD and abnormal connection of left pulmonary vein to vertical vein: A case report.

Medicine
2023

Role of MRI in the Evaluation of Pulmonary Sequel Following COVID-19 Acute Respiratory Distress Syndrome (ARDS).

Current problems in diagnostic radiology
2022

Exploring Noncardiac Surgical Needs From Infancy to Adulthood in Patients With Congenital Heart Disease.

Journal of cardiothoracic and vascular anesthesia
2023

Role of advanced (magnetic resonance) neuroimaging and clinical outcomes in neonatal strokes: Experience from tertiary care center.

The neuroradiology journal
2022

Takostubo syndrome combined with ventricular septal perforation: a case report.

BMC cardiovascular disorders
2022

Study to Explore the Association of the Renin-Angiotensin System and Right Ventricular Function in Mechanically Ventilated Patients.

Journal of clinical medicine
2022

The Effect of Growth Hormone Therapy on Cardiac Outcomes in Noonan Syndrome: Long Term Follow-up Results.

Journal of clinical research in pediatric endocrinology
2022

Wild-type Transthyretin Amyloidosis with Diffuse Alveolar-septal Amyloidosis Diagnosed by a Transbronchial Lung Biopsy.

Internal medicine (Tokyo, Japan)
2022

Posture-Related Change in Intracardiac Blood Flow Detected by Transesophageal Echocardiography in Platypnea-Orthodeoxia Syndrome.

CASE (Philadelphia, Pa.)
2022

Non Ischemic Cardiomyopathy in a 54-Year-Old Khat Consuming Yemeni Male Presenting with Worsening Exertional Dyspnea, T Wave Inversions in V5-V6 and Normal Coronary Artery Angiography.

The American journal of case reports
2022

Echocardiographic evaluation of total anomalous pulmonary venous connection: Comparison of obstructed and unobstructed type.

Medicine
2022

Identification of MMACHC and ZEB2 mutations causing coexistent cobalamin C disease and Mowat-Wilson syndrome in a 2-year-old girl.

Clinica chimica acta; international journal of clinical chemistry
2022

Vasculopathy and Increased Vascular Congestion in Fatal COVID-19 and Acute Respiratory Distress Syndrome.

American journal of respiratory and critical care medicine
2022

Etiologic Profile of Older Children With Diffuse Radiological Changes in Eastern China.

Frontiers in pediatrics
2022

Ultrasound of Fetal Cardiac Function Changes in Pregnancy-Induced Hypertension Syndrome.

Evidence-based complementary and alternative medicine : eCAM
2022

Beyond the Syndrome: Extensive Congenital Abnormalities in an Infant With Trisomy 21.

Clinical pathology (Thousand Oaks, Ventura County, Calif.)
2022

Evaluation of Liver Stiffness After Atrial Septal Defect Closure.

Ultrasound quarterly
2022

Association Between Deleterious SCN5A Variants and Ventricular Septal Defect in Young Patients With Brugada Syndrome.

JACC. Clinical electrophysiology
2022

Comparative Histopathology of Bovine Acute Interstitial Pneumonia and Bovine Respiratory Syncytial Virus-Associated Interstitial Pneumonia.

Journal of comparative pathology
2022

Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction.

Circulation
2022

Live birth prevalence of atrioventricular septal defect after the implementation of new prenatal screening guidelines.

Danish medical journal
2022

Hypoxemia found after hospitalization with right hemiplegia due to cerebral infarction: platypnea-orthodeoxia syndrome in the older people.

Journal of cardiology cases
2021

22q11.2 recurrent copy number variation-related syndrome: a retrospective analysis of our own microarray cohort and a systematic clinical overview of ClinGen curation.

Translational pediatrics
2022

The Role of ECG in the Diagnosis and Risk Stratification of Acute Coronary Syndromes: an Old but Indispensable Tool.

Current cardiology reports
2021

Scanning electron microscopy of lung disease due to COVID-19 - a case report and a review of the literature.

European review for medical and pharmacological sciences
2021

Post-cardiac injury syndrome triggered by radiofrequency ablation for AVNRT.

BMC cardiovascular disorders
2021

Correlation Between Liver Stiffness and Diastolic Function, Left Ventricular Hypertrophy, and Right Cardiac Function in Patients With Ejection Fraction Preserved Heart Failure.

Frontiers in cardiovascular medicine
2022

Establishment of a patient-specific induced pluripotent stem cell line DHMi004-A from a male Holt-Oram syndrome patient with verified TBX5 mutation.

Stem cell research
2021

Angiography-guided mid/high septal implantation of ventricular leads in patients with congenital heart disease.

Journal of arrhythmia
2021

Case Report: Bullous Lung Disease Following COVID-19.

Frontiers in medicine
2022

Insights from 3D Echocardiography in Hypoplastic Left Heart Syndrome Patients Undergoing TV Repair.

Pediatric cardiology
2023

Use of venous-venous extracorporeal membrane oxygenation in the treatment of postpartum pulmonary hypertension crisis.

Perfusion
2021

Maternal Hyperoxygenation Testing in Fetuses with Hypoplastic Left-Heart Syndrome: Association with Postnatal Atrial Septal Restriction.

Fetal diagnosis and therapy
2022

Novel Point Mutations in 3'-Untranslated Region of GATA4 Gene Are Associated with Sporadic Non-syndromic Atrial and Ventricular Septal Defects.

Current medical science
2022

Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.

Clinical genetics
2021

A case report of a triad causing platypnoea-orthodeoxia syndrome.

European heart journal. Case reports
2022

Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.

Cardiology in the young
2022

Radiological features of pulmonary fat embolism in trauma patients: a case series.

Emergency radiology
2022

Differences in Placental Histology Between Zika Virus-infected Teenagers and Older Women.

International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists
2021

Profiling Basal Forebrain Cholinergic Neurons Reveals a Molecular Basis for Vulnerability Within the Ts65Dn Model of Down Syndrome and Alzheimer's Disease.

Molecular neurobiology
2021

Back somersault-induced atrioventricular nodal reentrant tachycardia - A case of a 15-year-old promising gymnast.

Journal of cardiology cases
2021

Evaluation of pulmonary involvement in systemic rheumatic diseases with high resolution computed tomography and pulmonary function test: A single-center experience.

Tuberkuloz ve toraks
2021

Leptin Attenuates Cardiac Hypertrophy in Patients With Generalized Lipodystrophy.

The Journal of clinical endocrinology and metabolism
2021

Tricuspid Valve Tethering Is Associated with Residual Regurgitation after Valve Repair in Hypoplastic Left Heart Syndrome: A Three-Dimensional Echocardiographic Study.

Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography
2022

Post-operative course of pulmonary artery pressure after complete atrioventricular canal defect repair.

Cardiology in the young
2021

Clinical and genetic findings in patients with congenital cataract and heart diseases.

Orphanet journal of rare diseases
2021

Segmental septal dyskinesia associated with an accessory pathway and preexcitation in two Golden Retriever dogs.

Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology
2021

Clinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant.

Journal of pediatric genetics
2021

Prospective Case-Control Study of Cardiovascular Abnormalities 6 Months Following Mild COVID-19 in Healthcare Workers.

JACC. Cardiovascular imaging
2021

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.

American journal of human genetics
2021

Septal chondrocyte hypertrophy contributes to midface deformity in a mouse model of Apert syndrome.

Scientific reports
2021

Utility of Fetal Cardiovascular Magnetic Resonance for Prenatal Diagnosis of Complex Congenital Heart Defects.

JAMA network open
2021

Quantification of Cardiac Kinetic Energy and Its Changes During Transmural Myocardial Infarction Assessed by Multi-Dimensional Seismocardiography.

Frontiers in cardiovascular medicine
2021

Trends in the prenatal diagnosis of trisomy 21 show younger maternal age and shift in the distribution of congenital heart disease over a 20-year period.

American journal of medical genetics. Part A
2021

Impact of prenatal screening on congenital heart defects in neonates with Down syndrome in the US.

Pediatric research
2021

Trends in US Pediatric Hospital Admissions in 2020 Compared With the Decade Before the COVID-19 Pandemic.

JAMA network open
2021

Regeneration Profiles of Olfactory Epithelium after SARS-CoV-2 Infection in Golden Syrian Hamsters.

ACS chemical neuroscience
2020

Cerebral Vasculopathy and Spinal Arachnoiditis: Two Rare Complications of Ventriculitis Post Subarachnoid Hemorrhage.

Cureus
2021

Generation of a TBX5 homozygous knockout embryonic stem cell line (WAe009-A-45) by CRISPR/Cas9 genome editing.

Stem cell research
2021

Does obesity influence ventricular repolarisation in children?

Cardiology in the young
2020

Thrombocytopenia-Absent Radius (TAR): Case report of dental implant and surgical treatment.

Journal of clinical and experimental dentistry
2020

[Cardiac functional alterations and its risk factors in elderly patients with obstructive sleep apnea syndrome free of cardiovascular disease].

Nan fang yi ke da xue xue bao = Journal of Southern Medical University
2020

COVID-19 pneumonia: the great radiological mimicker.

Insights into imaging
2020

Myocardial bridging-an unusual cause of Wellens syndrome: A case report.

Medicine
2020

What is the mechanism of narrow paced QRS duration during left bundle branch area pacing? A case report.

European heart journal. Case reports
2020

Similarities and Differences of Early Pulmonary CT Features of Pneumonia Caused by SARS-CoV-2, SARS-CoV and MERS-CoV: Comparison Based on a Systemic Review.

Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chih
2020

Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.

Human mutation
2020

A rare cause of abnormal pulmonary venous drainage: septum primum malposition.

Cardiology in the young
2020

Cardiovascular Involvement in Pediatric Laminopathies. Report of Six Patients and Literature Revision.

Frontiers in pediatrics
2020

Blue toe syndrome caused by emboli from anomalous left atrial septal pouch thrombus: a case report.

Thrombosis journal
2020

Liver stiffness value obtained by point shear-wave elastography is significantly related with atrial septal defect size.

Diagnostic and interventional radiology (Ankara, Turkey)
2020

Clinical and radiological features of novel coronavirus pneumonia.

Journal of X-ray science and technology
2020

Quantitative Neurotoxicology: An Assessment of the Neurotoxic Profile of Kainic Acid in Sprague Dawley Rats.

International journal of toxicology
2020

Marked Up-Regulation of ACE2 in Hearts of Patients With Obstructive Hypertrophic Cardiomyopathy: Implications for SARS-CoV-2-Mediated COVID-19.

Mayo Clinic proceedings
2020

Angiotensin-Converting Enzyme Inhibitor Prescription for Patients With Single Ventricle Physiology Enrolled in the NPC-QIC Registry.

Journal of the American Heart Association
2020

Comparison of safety and outcomes with two approaches to the mitral valve.

Journal of cardiac surgery
2020

Transthoracic echocardiography features of adult-type anomalous left coronary artery from the pulmonary artery before and after surgery: highlights from observational study in a single center of China.

The international journal of cardiovascular imaging
2020

Complement associated microvascular injury and thrombosis in the pathogenesis of severe COVID-19 infection: A report of five cases.

Translational research : the journal of laboratory and clinical medicine
2020

Multi-detector computed tomography in the assessment of tetralogy of Fallot patients: is it a must?

The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology
2020

Effects of Adrenocorticotropic Hormone Treatment on Heart Muscle in Patients with Infantile Spasm.

Cureus
2020

Morphological and Functional Characteristics of Animal Models of Myocardial Fibrosis Induced by Pressure Overload.

International journal of hypertension
2020

Myocarditis presenting as typical acute myocardial infarction: A case report and review of the literature.

World journal of clinical cases
2020

Regulation of CRF mRNA in the Rat Extended Amygdala Following Chronic Cocaine: Sex Differences and Effect of Delta Opioid Receptor Agonism.

The international journal of neuropsychopharmacology
2019

Pathology Of "Post-Upper Blepharoplasty Syndrome": Implications For Upper Eyelid Reconstruction.

Clinical ophthalmology (Auckland, N.Z.)
2019

Diagnosis and treatment of abnormal left coronary artery originating from the pulmonary artery: A single-center experience.

Anatolian journal of cardiology
2019

Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature.

Hormone research in paediatrics
2019

Pulmonary embolism mimicking acute myocardial infarction: a case report and review of literature.

The Pan African medical journal
2019

National population-based estimates for major birth defects, 2010-2014.

Birth defects research
2019

Emergent high fatality lung disease in systemic juvenile arthritis.

Annals of the rheumatic diseases
2020

Clinical Outcome of Extraanatomic Bypass for Midaortic Syndrome Caused by Takayasu Arteritis.

The Annals of thoracic surgery
2019

Single Amino Acid Change Underlies Distinct Roles of H2A.Z Subtypes in Human Syndrome.

Cell
2019

Endocarditis and bacterial brain abscess in a young woman with a single atrium, patent ductus arteriosus, and Eisenmenger syndrome: A case report.

Medicine
2020

Nasal Surgery May Improve Upper Airway Collapse in Patients With Obstructive Sleep Apnea: A Drug-Induced Sleep Endoscopy Study.

The Journal of craniofacial surgery
2019

Echocardiographic assessment of left ventricular systolic function in neonatal calves with naturally occurring sepsis or septic shock due to diarrhea.

Research in veterinary science
2019

Retrograde transcatheter aortic valve closure in an infant with failing Norwood stage I palliation: a case report.

Journal of medical case reports
2019

Long Survival of a Patient with Trisomy 18 and Dandy-Walker Syndrome.

Medicina (Kaunas, Lithuania)
2019

The Impact of Technology on the Diagnosis of Congenital Malformations.

American journal of epidemiology
2019

Echocardiographic Findings in Patients with Mild to Moderate Chronic Kidney Disease without Symptomatic Heart Failure: A Population-Based Study.

Cardiorenal medicine
2019

Ten-year trend in prevalence and outcome of Down syndrome with congenital heart disease in a middle-income country.

European journal of pediatrics
2019

Effect of ipragliflozin, an SGLT2 inhibitor, on cardiac histopathological changes in a non-diabetic rat model of cardiomyopathy.

Life sciences

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

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. Protocol for an open-label, randomised, controlled trial to evaluate the efficacy and safety of sotatercept add-on therapy compared with pulmonary vasodilator-based standard of care for pulmonary vasodilator-resistant pulmonary arterial hypertension associated with unrepaired congenital shunts (atrial septal defect, ventricular septal defect or patent ductus arteriosus), including Eisenmenger syndrome: the SuMILE trial.
    BMJ open· 2026· PMID 41819579mais citado
  2. Unraveling cardiac anomalies in pediatric neurofibromatosis type 1: insights and implications.
    European journal of pediatrics· 2026· PMID 41540280mais citado
  3. Influence of atrial septal defect on mitral valve growth after repair of coarctation of the aorta or an interrupted aortic arch in infants.
    Clinical and experimental pediatrics· 2026· PMID 41531153mais citado
  4. Chronic suppression of monoacylglycerol lipase restores adult neurogenesis in the septal but not the temporal DG in Ts65Dn mouse model of Down syndrome.
    Brain research bulletin· 2026· PMID 41519177mais citado
  5. Pediatric floating-harbor syndrome: clinical features and treatment outcomes in a cohort of Chinese children.
    European journal of pediatrics· 2026· PMID 41484376mais citado
  6. Platypnea-Orthodeoxia Syndrome (POS): A Retrospective Study of Percutaneous Closure of the Foramen Ovale in a Single Center.
    Catheter Cardiovasc Interv· 2025· PMID 40391504recente
  7. A patient with unexplained hypoxemia after a fall diagnosed with platypnea orthodeoxia syndrome: approaches to resolving discrepancies between level of hypoxemia and clinical presentation.
    Can J Anaesth· 2024· PMID 39467992recente
  8. Echocardiographic parameters in French Bulldogs, Pugs and Boston Terriers with brachycephalic obstructive airways syndrome.
    BMC Vet Res· 2023· PMID 36793024recente
  9. Takostubo syndrome combined with ventricular septal perforation: a case report.
    BMC Cardiovasc Disord· 2022· PMID 36076178recente
  10. Post-cardiac injury syndrome triggered by radiofrequency ablation for AVNRT.
    BMC Cardiovasc Disord· 2021· PMID 34953495recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:86915(Orphanet)
  2. OMIM OMIM:601927(OMIM)
  3. MONDO:0011166(MONDO)
  4. GARD:284(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q55783237(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

Síndrome de linfedema-defeitos do septo auricular-alterações faciais
Compêndio · Raras BR

Síndrome de linfedema-defeitos do septo auricular-alterações faciais

ORPHA:86915 · MONDO:0011166
Prevalência
<1 / 1 000 000
Casos
5 casos conhecidos
Herança
Autosomal recessive
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
CID-11
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C2677167
Repurposing
19 candidatos
azosemideelectrolyte reabsorption inhibitor
benzthiazidecarbonic anhydrase inhibitor
bumetanidesolute carrier family member inhibitor
+16 outros
Wikidata
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