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Síndrome de baixa estatura-ossos wormianos-dextrocardia
ORPHA:2863CID-10 · Q87.1OMIM 185120DOENÇA RARA

A síndrome de baixa estatura-ossos wormianos-dextrocardia é uma síndrome de anomalias congênitas múltiplas caracterizada por ossos wormianos, dextrocardia e baixa estatura devido à deficiência de hormônio do crescimento. Manifestações adicionais que foram relatadas incluem braquicamptodactilia, hipoplasia renal, criptorquidia bilateral, hipospádia do eixo médio, ânus imperfurado/agenesia anorretal, assimetria corporal, atraso leve no desenvolvimento, hemimegalencefalia e dismorfismo facial, como hipotelorismo, fissuras palpebrais inclinadas, orelhas baixas e posteriormente anguladas, ponte nasal deprimida e microstomia.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A síndrome de baixa estatura-ossos wormianos-dextrocardia é uma síndrome de anomalias congênitas múltiplas caracterizada por ossos wormianos, dextrocardia e baixa estatura devido à deficiência de hormônio do crescimento. Manifestações adicionais que foram relatadas incluem braquicamptodactilia, hipoplasia renal, criptorquidia bilateral, hipospádia do eixo médio, ânus imperfurado/agenesia anorretal, assimetria corporal, atraso leve no desenvolvimento, hemimegalencefalia e dismorfismo facial, como hipotelorismo, fissuras palpebrais inclinadas, orelhas baixas e posteriormente anguladas, ponte nasal deprimida e microstomia.

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
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.1
🇧🇷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
5 sintomas
🦴
Ossos e articulações
4 sintomas
🧠
Neurológico
2 sintomas
🦷
Dentes
2 sintomas
👂
Ouvidos
1 sintomas
📏
Crescimento
1 sintomas

+ 5 sintomas em outras categorias

Características mais comuns

90%prev.
Comprometimento cognitivo
Muito frequente (99-80%)
90%prev.
Ponte nasal ampla
Muito frequente (99-80%)
90%prev.
Orelhas de implantação baixa
Muito frequente (99-80%)
90%prev.
Espasticidade
Muito frequente (99-80%)
90%prev.
Morfologia anormal do filtro
Muito frequente (99-80%)
90%prev.
Camptodactilia do dedo
Muito frequente (99-80%)
25sintomas
Muito frequente (25)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 25 características clínicas mais associadas, ordenadas por frequência.

Comprometimento cognitivoCognitive impairment
Muito frequente (99-80%)90%
Ponte nasal amplaWide nasal bridge
Muito frequente (99-80%)90%
Orelhas de implantação baixaLow-set ears
Muito frequente (99-80%)90%
EspasticidadeSpasticity
Muito frequente (99-80%)90%
Morfologia anormal do filtroAbnormality of the philtrum
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2026198 papers
Linha do tempo
2026Hoje · 2026
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 baixa estatura-ossos wormianos-dextrocardia

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Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Gastrointestinal Tolerance and Refeeding Syndrome in Severely Malnourished Children Treated with Oral Nutrition Supplements Compared to F-75/F-100: A Hospital-Based Randomized Controlled Pilot Trial.

Pediatric gastroenterology, hepatology &amp; nutrition2026 Mar

Current World Health Organization guidelines recommend F-75/F-100 for inpatients and ready-to-use therapeutic foods (RUTF) for outpatients with severe acute malnutrition (SAM). In Indonesia, F-100 continues to be administered after discharge because of limited evidence of RUTF's acceptability and effectiveness in a local setting. Home-prepared F-100 carried the risk of improper mixing and bacterial contamination. Therefore, ready-to-drink oral nutritional supplements (RTD ONS) may serve as alternatives to F-75/F-100. This study aimed to investigate the safety and effectiveness of ONS in hospitalized children with SAM. This study was a pilot randomized controlled trial comparing the gastrointestinal tolerance of F-75/F-100, high-energy ONS, and standard-energy ONS in 108 hospitalized subjects aged 12-60 months old with complicated SAM. Subjects were monitored for gastrointestinal symptoms and refeeding syndrome. The incidence of vomiting due to the formula was not significantly different among the three groups (p=0.362), as was the incidence of diarrhea, which was 13.9% (F-75/F-100), 16.7% (high-energy ONS), and 11.1% (standard-energy ONS) (p=0.939). The incidences of refeeding syndrome were 13.9%, 5.6%, and 2.8% in the F-75/F-100, standard-energy ONS, and high-energy ONS groups, respectively (p=0.169). The high-energy ONS showed the highest weight increment (8.5±3.2 g/kg/day) among the three groups. Ready-to-drink ONS is a safe and effective therapeutic nutritional option for children with complicated SAM who live in areas with poor sanitation. This study provides preliminary results and requires further investigation to address the limitations of a small sample size and short study timeframe.

#2

Glucagon-like peptide agonists and use in short bowel syndrome - what about the side effects?

Current opinion in gastroenterology2026 Mar 23

This review summarizes recent evidence on the use of glucagon-like peptide-1 (GLP-1) and glucagon-like peptide-2 (GLP-2) agonists in the management of short bowel syndrome (SBS), with a focus on emerging therapies and real-world experience. It evaluates their impact on intestinal adaptation, safety, and future clinical potential. GLP-2 agonists such as teduglutide continue to demonstrate improvements in intestinal absorption resulting in reductions in parenteral support (PS) requirements and improved quality of life. Clinical trials report that newer long-acting agents, such as apraglutide and glepaglutide, allow less frequent dosing with a reduction in PS and structural intestinal changes on imaging. Safety profiles remain favourable, with gastrointestinal symptoms, fluid balance issues, gallbladder events and injection-site reactions reported most frequently. GLP-1 agonists show promise in slowing transit time and offer an area for further research. While GLP-2 agonists shape the current landscape of SBS management, GLP-1 based therapies may complement future treatment strategies offering the potential to reduce or even eliminate dependence on PS. Continued long-term studies and registry data are essential to optimize patient selection, safety monitoring, and personalized use of GLP agonists.

#3

Acute food protein-induced enterocolitis syndrome in Switzerland: a 10-year retrospective review.

European journal of pediatrics2026 Mar 22

Food protein-induced enterocolitis syndrome (FPIES) is a non-immunoglobulin E-mediated food allergy that typically causes delayed gastrointestinal symptoms following the ingestion of a trigger food. FPIES is a rare condition with limited epidemiological data. This study aimed to investigate the demographic characteristics, triggers, clinical presentations, and outcomes of children with acute FPIES at the University Children's Hospital Zurich, a tertiary-level children's hospital in Switzerland, with a dual focus on confirmed and suspected FPIES cases. This retrospective study covered a 10-year period (2010-2020). Electronic medical records were screened for patients diagnosed with acute FPIES and those with symptoms suggestive of FPIES according to international diagnostic criteria. Those paediatric patients with an acute FPIES diagnosis or a history highly suggestive of FPIES were included. A total of 109 patients with acute FPIES were identified. Cow's milk (CM) was the most common food trigger (24%), followed by eggs (12%) and fish (10%). A single food trigger was identified in 56% of the patients. The median age of onset was 6 months (interquartile range (IQR), 4 months). Gender had no effect on observed FPIES cases. Data on FPIES tolerance and therefore resolution of FPIES symptoms and/or successful reintroduction of the triggering food were limited, with sufficient follow-up information available for only 37% of confirmed and 25% in suggestive cases: 27.5 months for CM (IQR, 15.75 months), 67.5 months for fish (IQR, 33.5 months), and 32 months for egg (IQR, 14.5 months).  Conclusion: The study contributes practical epidemiological and clinical insights into FPIES triggers, patterns, and patient characteristics, and provides further regional insights to navigate this complex condition. What is Known:  • FPIES is a rare, non-IgE-mediated food allergy, particularly affecting infants and young children. • FPIES is often under-recognized, resulting in delayed diagnosis and management. What is New: • By providing robust real-world data on acute FPIES, this study provides a decade-long overview of acute FPIES cases, detailing key food triggers, identifying gaps in clinical practice and delays in diagnosis, and contributing regional epidemiologic data that may not be apparent in short-term studies and underscore geographic variability in presentation and triggers.

#4

Safety and effectiveness of phenobarbital vs. benzodiazepines for severe alcohol withdrawal in alcohol-associated liver disease in the ICU.

JHEP reports : innovation in hepatology2026 Feb 04

Severe alcohol withdrawal syndrome (SAWS) in patients with alcohol-associated liver disease (ALD) presents management challenges due to altered drug metabolism and increased toxicity. While benzodiazepines remain standard therapy, concerns about drug shortages, over-sedation, hepatic encephalopathy, and respiratory depression have prompted interest in phenobarbital as an alternative. We conducted a retrospective cohort study using the MIMIC-IV database (2008-2019) comparing phenobarbital and benzodiazepines in patients in the intensive care unit (ICU) with ALD and SAWS. Patients receiving either drug as the initial sedative were identified, and outcomes were analyzed using inverse probability of treatment weighting to balance baseline characteristics. Outcomes included in-hospital mortality, need for mechanical ventilation, time on ventilator, ICU length of stay (LOS), and hospital LOS. Subgroup analyses compared phenobarbital with short-acting (lorazepam) and long-acting (diazepam, chlordiazepoxide) benzodiazepines. Among 763 phenobarbital-treated and 2,863 benzodiazepine-treated patients, in-hospital mortality was similar (4.5% vs. 5%; odds ratio 0.88, 95% CI 0.64-1.21). Phenobarbital was associated with reduced mechanical ventilation (32.7% vs. 39.3%; odds ratio 0.82, 95% CI 0.74-0.91), and shorter ICU LOS (3.6 vs. 4.1 days; p = 0.02) with comparable hospital LOS. When stratified by benzodiazepine type, benefits were driven by improved outcomes vs. short-acting benzodiazepines (lower mortality, ventilation, and LOS). In patients with decompensated cirrhosis or MELD-Na >14, phenobarbital demonstrated similar mortality (19% vs. 18.9%) and comparable ICU and ventilatory outcomes. In this first large cohort of patients with severe liver disease, phenobarbital showed comparable mortality, respiratory, and ICU outcomes to benzodiazepines in ALD patients with severe alcohol withdrawal. These results support phenobarbital as a viable alternative in this high-risk population, warranting prospective trials to validate the findings. This is the first large study to evaluate phenobarbital vs. benzodiazepines for severe alcohol withdrawal specifically in patients with alcohol-associated liver disease, a population often excluded from prior research. This study provides important evidence showing that phenobarbital yields comparable respiratory and mortality outcomes to benzodiazepines in critically ill patients with alcohol-associated liver disease. These findings are important for hepatologists, intensivists, and hospital clinicians who face therapeutic uncertainty and safety concerns regarding benzodiazepine use in this group. Establishing phenobarbital as a viable alternative could help inform future clinical guidelines and support safer, evidence-based management of withdrawal in patients with advanced liver disease.

#5

Current and emerging approaches to manage chronic inflammatory gut disorders.

Frontiers in cellular and infection microbiology2026

Chronic inflammatory gastrointestinal disorders, including inflammatory bowel disease (IBD), Crohn's disease, ulcerative colitis, and irritable bowel syndrome (IBS), remain challenging to manage due to complex etiologies, heterogeneous disease progression, and limitations in current diagnostic and therapeutic strategies. Existing clinical approaches rely on a combination of invasive and non-invasive diagnostic tools, while therapeutic management predominantly involves symptomatic control, disease-modifying pharmacotherapy, and surgical interventions. However, these strategies often fail to enable early or real-time disease detection and frequently fall short of achieving sustained remission. This review highlights two emerging and potentially transformative approaches: nanomedicine and living diagnostic-therapeutic systems. Nanomedicine has gained significant attention for its ability to enhance targeted drug delivery and improve therapeutic efficiency, addressing several limitations of conventional treatments; nevertheless, challenges related to delivery consistency, biosafety, scalability, and long-term efficacy persist. In parallel, living diagnostic-therapeutic systems-engineered whole-cell sensors capable of real-time sensing and on-demand therapeutic response within the gut-represent a compelling alternative. Although still at an early stage of development, promising preclinical and limited clinical studies demonstrate their potential utility. Key challenges remain, including biosensor functionality, genetic stability, microbial colonization, host-microbe interactions, and integration into existing healthcare frameworks, alongside regulatory and translational barriers. Overall, the convergence of nanomedicine and living, responsive systems may offer a transformative pathway for the diagnosis and treatment of chronic inflammatory gut diseases.

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Acute food protein-induced enterocolitis syndrome in Switzerland: a 10-year retrospective review.

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Safety and effectiveness of phenobarbital vs. benzodiazepines for severe alcohol withdrawal in alcohol-associated liver disease in the ICU.

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Current and emerging approaches to manage chronic inflammatory gut disorders.

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Prefusion-stabilized Hantaan virus glycoprotein nucleic acid vaccine elicits potent neutralizing antibody responses via germinal center activation.

Nature communications
2026

Effects of Baduanjin exercise in alleviating symptoms of fibromyalgia syndrome: A randomized controlled trial.

Complementary therapies in medicine
2026

Effect of Nociceptors Hypostimulation Versus Nociceptors Hyperstimulation on Electromyography of Cervical Muscles, Myofascial Trigger Points Sensitivity, Pain, and Disability in Patients With Chronic Cervical Pain: A Randomized Double-Blinded Controlled Trial.

Physiotherapy research international : the journal for researchers and clinicians in physical therapy
2026

Prediction of treatment response in infantile epileptic spasms syndrome using EEG phase-amplitude coupling.

Epilepsia open
2026

Predictors of Concussion-Like Symptoms in Women Recruited from the Community with a History of Intimate Partner Violence.

Journal of neurotrauma
2026

A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.

International journal of molecular sciences
2026

Multidomain Biomarkers as Predictors of Cardiovascular Risk in Acute Coronary Syndrome: A Prospective Evaluation.

International journal of molecular sciences
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Molecular Mechanisms of Intestinal Adaptation in Short Bowel Syndrome: A Comprehensive Review.

International journal of molecular sciences
2026

Neurocognitive Correlates of Diagnostic Heterogeneity in Children with ADHD: The Differential Contributions of Cognitive Disengagement Syndrome, Symptom Severity, and Anxiety.

Diagnostics (Basel, Switzerland)
2026

Faster Results, Better Care? Impact of Meningitis/Encephalitis Syndromic Panel Testing on Pathogen Detection and Hospital Outcomes Beyond CSF Culture: A Literature Search for Diagnosticians.

Diagnostics (Basel, Switzerland)
2026

Effectiveness and Safety of Teduglutide Treatment in Adult Patients with Short Bowel Syndrome: A Case Series and Review of Current Evidence.

Journal of clinical medicine
2026

Immediate Effect of Rigid Taping and Patella-Stabilizing Brace on Proprioception, Functionality, and Balance in Patients with Patellofemoral Pain Syndrome: A Randomised Controlled Trial.

Journal of clinical medicine
2026

Small Intestine and Vermiform Appendix Lengths in Healthy Adults: Intraoperative Morphometric Data from a Living Donor Cohort.

Journal of clinical medicine
2026

Immunomodulation of the Ocular Surface in Severe Dry Eye Disease: Expert-Driven Literature Review on Treatment Strategies with Description of Representative Challenging Cases.

Ophthalmology and therapy
2026

Combined Long-Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2.

American journal of medical genetics. Part A
2026

Colonoscopy surveillance in Lynch syndrome: what it prevents and what it does not.

Journal of medical genetics
2026

Dietary choline and betaine intake and 2-year changes in cognitive function in older adults with overweight or obesity and metabolic syndrome: a prospective cohort analysis.

The American journal of clinical nutrition
2026

Post-Acute Sequelae of COVID-19 Persist Over 3 Years in Acute Lung Injury/Acute Respiratory Distress Syndrome Survivors But Are Not Associated With Persistent Thromboinflammation or Endothelial Dysfunction.

Critical care explorations
2026

Virtual reality in pulmonary rehabilitation: A systematic review of clinical outcomes in COPD and post-COVID conditions.

Physiology international
2026

Short bowel syndrome-associated intestinal failure: diagnosis and prognosis.

Expert review of gastroenterology &amp; hepatology
2026

Single-center experience with pediatric short bowel syndrome: clinical outcomes based on etiology and anatomical type in a retrospective cohort study.

Annals of surgical treatment and research
2026

Successful Treatment of Aplastic Anemia With Eltrombopag During Pregnancy: A Short Report.

EJHaem
2026

Perioperative Care of a Four-Year-Old Child With Teebi Hypertelorism Syndrome: A Rare Craniofacial Disorder.

Journal of medical cases
2026

[Guidelines for the diagnosis and treatment of obstructive sleep apnea in adults (2025)].

Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases
2026

Patients living with HIV in the modern era: Postoperative outcomes and healthcare utilization.

American journal of surgery
2026

CHROME 2.0 Reduces Psychotropic Prescribing, Improving Neuropsychiatric Symptoms and Falls in People With Dementia.

Journal of the American Medical Directors Association
2026

Familial Atrial Fibrillation with Short QT Syndrome and Left Atrial Appendage Agenesis: A KCNQ1 Mutation Triad?

The Canadian journal of cardiology
2026

Exploring the disease burden and quality of life in patients with short bowel syndrome with intestinal failure: Insights from exit interviews in the glepaglutide EASE SBS-1 phase 3 trial.

Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition
2026

Association between frailty status and pain, balance, and quality of life in patients with lumbar spinal stenosis.

Turkish journal of medical sciences
2026

Transcultural Adaptation of the Spanish Version of the ABILHAND Scale for Hand Surgery in a Colombian Population of Patients with Hand Pathologies.

Journal of hand surgery global online
2026

Cross-species hepatic transcriptomics identify conserved immune-metabolic reprogramming in acute-on-chronic liver failure progression.

Frontiers in immunology
2026

Successful anesthesia management for middle cerebral artery thrombectomy in a patient with asynchronous cardio-cerebral infarction: a case report.

Frontiers in pharmacology
2026

Unraveling the anti-colorectal cancer mechanisms of Acanthopanax senticosus polysaccharide: a multi-omics investigation into gut microbiota-metabolism-immunity crosstalk.

Frontiers in pharmacology
2026

Hidden Cardiovascular Risk: Early Menopause Triggering Acute Coronary Syndrome (ACS) in Young Patients.

Cureus
2026

Bilateral tailoring, dorsal folding: A simple approach for short urethra and incompetent bladder neck in female patients.

Asian journal of urology
2026

[Rapid determination of venetoclax in plasma by ultra performance liquid chromatography-tandem mass spectrometry].

Se pu = Chinese journal of chromatography
2026

A variant in RESF1 is associated with Addison's disease and multiple autoimmune syndrome in young Nova Scotia Duck Tolling Retrievers.

Scientific reports
2026

Clinical significance of low-frequency mosaic thresholds (45,X/46,XX/47,XXX) in adulthood: A case report.

Taiwanese journal of obstetrics &amp; gynecology
2026

Mortality score in chronic coronary syndrome: prediction model from the ISCHEMIA trial.

European journal of preventive cardiology
2026

Acute-on-chronic liver failure and immune dysregulation: Systemic inflammation and immunoparesis paradox.

Hepatology communications
2025

[Genetic analysis of a Chinese pedigree affected with Isolated growth hormone deficiency due to variant of CHRHR gene].

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

Cardioacrofacial dysplasia 1: a case report and literature review.

Translational pediatrics
2026

Live Births Following IVF-FET in Two Adult Sisters with Nonclassic P450 Oxidoreductase Deficiency: A Case Report Identifying a Novel POR Variant.

International journal of women's health
2026

Transjugular intrahepatic portosystemic shunt improves survival in anticoagulation-resistant hepatic sinusoidal obstructive syndrome patients: A multicenter retrospective study.

World journal of hepatology
2026

Depressive Symptoms in Patients With SARS-CoV-2 and Acute Coronary Syndrome.

Cureus
2026

Real-world effectiveness and safety of teduglutide in patients with short bowel syndrome.

World journal of gastrointestinal pharmacology and therapeutics
2026

Deep learning-based real-time seizure detection and multi-seizure classification on pediatric EEG.

Frontiers in neurology
2026

A Prospective-Retrospective Observational Cohort Study of Short-Term Health Outcomes of Preterm Very Low Birth Weight Infants Receiving Oropharyngeal Administration of Own Mother's Colostrum.

Current therapeutic research, clinical and experimental
2026

Pain as an underrecognized geriatric syndrome in hospitalized older adults with major neurocognitive disorder: clinical correlates and outcomes.

European geriatric medicine
2026

Computational modelling of the equine arteritis virus GP5/M Dimer: Implications for immune evasion and virulence.

PloS one
2026

Success rates of a surgical neurectomy for lateral cutaneous nerve entrapment syndrome (LACNES).

Scandinavian journal of pain
2026

Antipsychotics in Children and Adolescents with Schizophrenia-Spectrum Disorders: A Systematic Review, Meta-Analysis, and Long-Term Prospective Evidence.

Journal of child and adolescent psychopharmacology
2026

Epigallocatechin-3-gallate ameliorates LPS-induced ARDS by modulating Akkermansia-associated SCFAs metabolism and inhibiting the JAK2/STAT3 candidate signaling pathway.

Food &amp; function
2026

From the Ocular Surface to Neurophysiology: An Integrative Review of Digital Eye Strain.

Clinical optometry
2026

Somatic mosaicism of a novel USH2A variant in Usher syndrome.

Ophthalmic genetics
2026

Experiences of patients and public partners in codesign of Lynch Choices™: an evaluation study using the Patient Engagement In Research Scale (PEIRS-22).

Research involvement and engagement
2026

Mapping dementia research in Indonesia: A scoping review of evidence, gaps, and future directions.

PLOS global public health
2026

[Prion diseases : Creutzfeldt-Jakob and differential diagnoses].

Radiologie (Heidelberg, Germany)
2026

Case report: minimally invasive management of two major complications of colonic perforation and pseudoaneurysm formation following nephrostomy tube placement.

The Canadian journal of urology
2026

The mediating role of sacral slope in the relationship between lumbar lordosis and knee alignment in knee osteoarthritis: an imaging study.

Frontiers in bioengineering and biotechnology
2026

Advances in IL-2 Family Cytokine-Based Cancer Therapies: Overcoming Challenges Through Molecular Engineering and Delivery Strategies.

Immune network
2026

Prognostic value of surfactant protein D and biochemical markers in BALF and plasma of ARDS patients undergoing mechanical ventilation.

Journal of medical biochemistry
2026

Early Prone Positioning in Three Pediatric Cases of Post-drowning Acute Respiratory Failure: A Case Series of Short-Term Changes in Oxygenation and Respiratory System Compliance.

Cureus
2026

Novel RAD50 variants lead to Nijmegen Breakage Syndrome-like disorder and unplanned recombinant human growth hormone treatment response.

Frontiers in endocrinology
2026

Efficacy and tolerability of early assessment of epileptic spasms to guide sequential treatment in children with infantile epileptic spasms syndrome:A nested case-control Study.

Seizure
2026

Endovascular Revascularization Followed by Isolated Popliteal Artery Decompression for Popliteal Artery Entrapment Syndrome: A Multicenter Retrospective Comparative Study.

Annals of vascular surgery
2026

Feasibility and preliminary efficacy of an online yoga program for managing symptoms of post-treatment lyme disease syndrome.

Complementary therapies in medicine
2026

[Advances in clinical features, diagnosis, and treatment of pre-acute-on-chronic liver failure].

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology
2026

Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.

European journal of pediatrics
2026

Interplay of probiotics, prebiotics, synbiotics and postbiotics: a review of their therapeutic potential for gastrointestinal inflammation.

Food research international (Ottawa, Ont.)
2026

Risk Stratification in the Short-QT Syndrome: Findings From a Pooled Analysis.

Heart rhythm
2026

Optimal antithrombotic strategies in atrial fibrillation patients undergoing PCI: A network meta-analysis of randomized trials.

Thrombosis research
2026

CAR-T therapy for autoimmune rheumatic diseases: navigating clinical frontiers between breakthroughs and uncertainties.

Clinical and experimental medicine
2026

Short telomere syndrome and telomere length: A clear cut-off is key.

The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation
2026

Quality of life of children with short bowel syndrome and their caregivers from the perspective of caregivers: a cross-sectional study in China.

European journal of pediatrics
2026

Safety and efficacy of blinatumomab in the treatment of refractory systemic sclerosis: a case series.

Annals of the rheumatic diseases
2026

Lamb-Shaffer syndrome in a Chinese adolescent: A case report.

Medicine
2026

Simultaneous quantification of lifitegrast and Rebamipide in hydrogel-based contact lenses using spectroscopic method.

International ophthalmology
2026

A Gut-Restricted Liver X Receptor Agonist Ameliorates Liver Injury in Experimental Short Bowel Syndrome.

Gastroenterology
2026

Return on investment of national specific health guidance in Japan: an observational study using "Wellness-Star⋆" health insurance claims database.

Journal of medical economics
2026

Successful Surgical Treatment for Large Common Hepatic Arterial Aneurysm Incidentally Discovered during Evaluation for Mallory-Weiss Syndrome.

Annals of vascular diseases
2026

One-month early time-restricted eating mitigates brain aging and enhances memory in males with metabolic syndrome: an MRI structural study.

Frontiers in aging
2025

Immediate Effect of LED Cluster on Masticatory Muscles in Children and Adolescents Diagnosed With Down Syndrome: A Pilot Study.

Journal of lasers in medical sciences
2026

Self-Management Improves Long-Term CKD Prognosis: A 10-Year Retrospective Cohort Study From China.

Journal of nursing management
2026

Exploring the clinical and genetic spectrum of Steel syndrome: two case reports and review of the literature.

Frontiers in medicine
2026

Immune-mediated necrotising myopathy following semaglutide treatment: a contributing factor?

BMJ case reports
2026

Autoimmune and malignant diseases secondary to autoimmune/inflammatory syndrome induced by modeling substances (ASIA-MS): A short communication of a clinical case series.

Reumatologia clinica
2026

Short-term isolated leucine supplementation was not associated with improvements in muscle mass or function in patients with head and neck cancer: A randomized, double-blind, proof-of-concept trial with an elderly non-cancer comparator cohort.

Clinical nutrition ESPEN
2026

Dietary intake as a tool to support diagnosis of irritable bowel syndrome.

Medicina clinica
2026

Dysregulation of serum hsa_circ_0005870 serves as a biomarker to predict disease onset and short-term prognosis in acute coronary syndrome patients.

Acta cardiologica
2026

Early Recovery Trajectories Predict Achievement of a Patient-Acceptable Symptom State After Open and Endoscopic Carpal Tunnel Release.

The Journal of hand surgery
2026

A qualitative systematic review and quality assessment of pharmacoeconomic evaluations on Chinese Herbal Medicine from 2020 to 2025.

Frontiers in public health
2026

Cervical diastematomyelia in a patient with Pierre-Robin syndrome - A case report.

Surgical neurology international
2026

Analysis of risk factors for early recurrence after radiofrequency ablation in patients with atrial fibrillation and construction of a nomogram predictive model.

Frontiers in cardiovascular medicine
2026

Conservative management of Type B aortic intramural hematoma guided by imaging surveillance.

Radiology case reports
2026

Effects of ultrasound-guided stellate ganglion block in poststroke bulbar palsy: a double-blind placebo-controlled trial.

BMC medicine
2026

SLC4A3-related short QT syndrome assessed in human induced pluripotent stem cell-derived cardiomyocytes: mechanisms of ventricular arrhythmia and sudden cardiac death.

European heart journal
2026

A systems perspective on rare diseases: integrating human phenotype ontology with the Anukta framework of Ayurveda.

Journal of Ayurveda and integrative medicine
2026

A Retrospective Cohort Analysis of Short-Term Outcomes of the Mycophenolate Mofetil-Based Triple Regimen for the Treatment of Calcineurin Inhibitor-Resistant Childhood Nephrotic Syndrome: A Single-Center Experience.

Cureus
2026

Autism Spectrum Disorder in a Child with Floating-Harbor Syndrome: A Case Report.

Noro psikiyatri arsivi
2026

Acute PGAD-Like Genital Arousal in a 59-Year-Old Woman After Duloxetine Withdrawal: A 36-Month Follow-Up Case Report.

Current therapeutic research, clinical and experimental
2026

Outcomes in octogenarians undergoing percutaneous coronary intervention: nationwide data from the Netherlands Heart Registration.

Journal of geriatric cardiology : JGC
2026

Once-weekly somapacitan in children with Noonan syndrome: randomized controlled phase 3 trial.

European journal of endocrinology
2026

Do Patients With Cleft Lip and Palate Have an Increased Risk of Short-Term Complications After Le Fort I Osteotomy?

The Journal of craniofacial surgery
2026

Companilactobacillus alimentarius CNTA 209 alleviates diet-induced obesity in mice through adipose tissue browning and gut barrier modulation.

Food &amp; function
2026

Clinical and cost-effectiveness of eculizumab withdrawal in atypical haemolytic uraemic syndrome: the SETS aHUS multi-centre, open-label, prospective and single-arm study.

Health technology assessment (Winchester, England)
2026

Neutrophil-to-lymphocyte ratio is associated with short-term mortality in patients with acute respiratory distress syndrome: a meta-analysis.

BMC infectious diseases
2026

Bioengineered ROS-tolerant probiotic reshapes gut microbiota-host axis to ameliorate type 2 diabetes in male mice.

Nature communications
2026

In severe pneumonia or ARDS, low-dose, short-course corticosteroids vs. placebo or usual care reduce short-term mortality.

Annals of internal medicine
2026

Rationale and design of a randomized, sham-controlled, clinical trial for evaluation of the Edwards APTURE transcatheter shunt system (ALT-FLOW II).

European journal of heart failure

Associações

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Comunidades

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Doenças relacionadas

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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.

  1. Gastrointestinal Tolerance and Refeeding Syndrome in Severely Malnourished Children Treated with Oral Nutrition Supplements Compared to F-75/F-100: A Hospital-Based Randomized Controlled Pilot Trial.
    Pediatric gastroenterology, hepatology &amp; nutrition· 2026· PMID 41877713mais citado
  2. Glucagon-like peptide agonists and use in short bowel syndrome - what about the side effects?
    Current opinion in gastroenterology· 2026· PMID 41866997mais citado
  3. Acute food protein-induced enterocolitis syndrome in Switzerland: a 10-year retrospective review.
    European journal of pediatrics· 2026· PMID 41865194mais citado
  4. Safety and effectiveness of phenobarbital vs. benzodiazepines for severe alcohol withdrawal in alcohol-associated liver disease in the ICU.
    JHEP reports : innovation in hepatology· 2026· PMID 41861676mais citado
  5. Current and emerging approaches to manage chronic inflammatory gut disorders.
    Frontiers in cellular and infection microbiology· 2026· PMID 41859463mais citado
  6. Short-term outcomes and tolerability of a hyaluronic acid-based vaginal gel in the management of genitourinary syndrome of menopause: a retrospective observational study.
    Gynecol Endocrinol· 2026· PMID 41837853recente
  7. Autoimmune and malignant diseases secondary to autoimmune/inflammatory syndrome induced by modeling substances (ASIA-MS): A short communication of a clinical case series.
    Reumatol Clin (Engl Ed)· 2026· PMID 41786375recente
  8. Effectiveness of radiofrequency therapy combined with pelvic floor muscle training in breast cancer survivors with genitourinary syndrome of menopause: a study protocol.
    Eur J Obstet Gynecol Reprod Biol· 2026· PMID 41707475recente
  9. Application of the Branch-First Technique in Mesenteric Malperfusion Syndrome Prior to Delayed Open Aortic Repair for Acute Type A Aortic Dissection.
    J Invest Surg· 2026· PMID 41657254recente
  10. The clinician rated suicide crisis syndrome checklist (SCS-C): Structure, reliability, and concurrent validity among adult psychiatric inpatients.
    J Affect Disord· 2026· PMID 41655855recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2863(Orphanet)
  2. OMIM OMIM:185120(OMIM)
  3. MONDO:0008499(MONDO)
  4. GARD:4856(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q7622278(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 baixa estatura-ossos wormianos-dextrocardia

ORPHA:2863 · MONDO:0008499
Prevalência
<1 / 1 000 000
Casos
3 casos conhecidos
CID-10
Q87.1 · Síndromes com malformações congênitas associadas predominantemente com nanismo
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1861448
Wikidata
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