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.
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
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
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Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 25 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
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Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
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Hepatology communications[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 geneticsCardioacrofacial dysplasia 1: a case report and literature review.
Translational pediatricsLive 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 healthTransjugular intrahepatic portosystemic shunt improves survival in anticoagulation-resistant hepatic sinusoidal obstructive syndrome patients: A multicenter retrospective study.
World journal of hepatologyDepressive Symptoms in Patients With SARS-CoV-2 and Acute Coronary Syndrome.
CureusReal-world effectiveness and safety of teduglutide in patients with short bowel syndrome.
World journal of gastrointestinal pharmacology and therapeuticsDeep learning-based real-time seizure detection and multi-seizure classification on pediatric EEG.
Frontiers in neurologyA 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 experimentalPain as an underrecognized geriatric syndrome in hospitalized older adults with major neurocognitive disorder: clinical correlates and outcomes.
European geriatric medicineComputational modelling of the equine arteritis virus GP5/M Dimer: Implications for immune evasion and virulence.
PloS oneSuccess rates of a surgical neurectomy for lateral cutaneous nerve entrapment syndrome (LACNES).
Scandinavian journal of painAntipsychotics in Children and Adolescents with Schizophrenia-Spectrum Disorders: A Systematic Review, Meta-Analysis, and Long-Term Prospective Evidence.
Journal of child and adolescent psychopharmacologyEpigallocatechin-3-gallate ameliorates LPS-induced ARDS by modulating Akkermansia-associated SCFAs metabolism and inhibiting the JAK2/STAT3 candidate signaling pathway.
Food & functionFrom the Ocular Surface to Neurophysiology: An Integrative Review of Digital Eye Strain.
Clinical optometrySomatic mosaicism of a novel USH2A variant in Usher syndrome.
Ophthalmic geneticsExperiences 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 engagementMapping dementia research in Indonesia: A scoping review of evidence, gaps, and future directions.
PLOS global public health[Prion diseases : Creutzfeldt-Jakob and differential diagnoses].
Radiologie (Heidelberg, Germany)Case report: minimally invasive management of two major complications of colonic perforation and pseudoaneurysm formation following nephrostomy tube placement.
The Canadian journal of urologyThe mediating role of sacral slope in the relationship between lumbar lordosis and knee alignment in knee osteoarthritis: an imaging study.
Frontiers in bioengineering and biotechnologyAdvances in IL-2 Family Cytokine-Based Cancer Therapies: Overcoming Challenges Through Molecular Engineering and Delivery Strategies.
Immune networkPrognostic value of surfactant protein D and biochemical markers in BALF and plasma of ARDS patients undergoing mechanical ventilation.
Journal of medical biochemistryEarly 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.
CureusNovel RAD50 variants lead to Nijmegen Breakage Syndrome-like disorder and unplanned recombinant human growth hormone treatment response.
Frontiers in endocrinologyEfficacy and tolerability of early assessment of epileptic spasms to guide sequential treatment in children with infantile epileptic spasms syndrome:A nested case-control Study.
SeizureEndovascular Revascularization Followed by Isolated Popliteal Artery Decompression for Popliteal Artery Entrapment Syndrome: A Multicenter Retrospective Comparative Study.
Annals of vascular surgeryFeasibility and preliminary efficacy of an online yoga program for managing symptoms of post-treatment lyme disease syndrome.
Complementary therapies in medicine[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 hepatologyExpanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.
European journal of pediatricsInterplay of probiotics, prebiotics, synbiotics and postbiotics: a review of their therapeutic potential for gastrointestinal inflammation.
Food research international (Ottawa, Ont.)Risk Stratification in the Short-QT Syndrome: Findings From a Pooled Analysis.
Heart rhythmOptimal antithrombotic strategies in atrial fibrillation patients undergoing PCI: A network meta-analysis of randomized trials.
Thrombosis researchCAR-T therapy for autoimmune rheumatic diseases: navigating clinical frontiers between breakthroughs and uncertainties.
Clinical and experimental medicineShort 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 TransplantationQuality 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 pediatricsSafety and efficacy of blinatumomab in the treatment of refractory systemic sclerosis: a case series.
Annals of the rheumatic diseasesLamb-Shaffer syndrome in a Chinese adolescent: A case report.
MedicineSimultaneous quantification of lifitegrast and Rebamipide in hydrogel-based contact lenses using spectroscopic method.
International ophthalmologyA Gut-Restricted Liver X Receptor Agonist Ameliorates Liver Injury in Experimental Short Bowel Syndrome.
GastroenterologyReturn on investment of national specific health guidance in Japan: an observational study using "Wellness-Star⋆" health insurance claims database.
Journal of medical economicsSuccessful Surgical Treatment for Large Common Hepatic Arterial Aneurysm Incidentally Discovered during Evaluation for Mallory-Weiss Syndrome.
Annals of vascular diseasesOne-month early time-restricted eating mitigates brain aging and enhances memory in males with metabolic syndrome: an MRI structural study.
Frontiers in agingImmediate Effect of LED Cluster on Masticatory Muscles in Children and Adolescents Diagnosed With Down Syndrome: A Pilot Study.
Journal of lasers in medical sciencesSelf-Management Improves Long-Term CKD Prognosis: A 10-Year Retrospective Cohort Study From China.
Journal of nursing managementExploring the clinical and genetic spectrum of Steel syndrome: two case reports and review of the literature.
Frontiers in medicineImmune-mediated necrotising myopathy following semaglutide treatment: a contributing factor?
BMJ case reportsAutoimmune and malignant diseases secondary to autoimmune/inflammatory syndrome induced by modeling substances (ASIA-MS): A short communication of a clinical case series.
Reumatologia clinicaShort-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 ESPENDietary intake as a tool to support diagnosis of irritable bowel syndrome.
Medicina clinicaDysregulation of serum hsa_circ_0005870 serves as a biomarker to predict disease onset and short-term prognosis in acute coronary syndrome patients.
Acta cardiologicaEarly Recovery Trajectories Predict Achievement of a Patient-Acceptable Symptom State After Open and Endoscopic Carpal Tunnel Release.
The Journal of hand surgeryA qualitative systematic review and quality assessment of pharmacoeconomic evaluations on Chinese Herbal Medicine from 2020 to 2025.
Frontiers in public healthCervical diastematomyelia in a patient with Pierre-Robin syndrome - A case report.
Surgical neurology internationalAnalysis of risk factors for early recurrence after radiofrequency ablation in patients with atrial fibrillation and construction of a nomogram predictive model.
Frontiers in cardiovascular medicineConservative management of Type B aortic intramural hematoma guided by imaging surveillance.
Radiology case reportsEffects of ultrasound-guided stellate ganglion block in poststroke bulbar palsy: a double-blind placebo-controlled trial.
BMC medicineSLC4A3-related short QT syndrome assessed in human induced pluripotent stem cell-derived cardiomyocytes: mechanisms of ventricular arrhythmia and sudden cardiac death.
European heart journalA systems perspective on rare diseases: integrating human phenotype ontology with the Anukta framework of Ayurveda.
Journal of Ayurveda and integrative medicineA 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.
CureusAutism Spectrum Disorder in a Child with Floating-Harbor Syndrome: A Case Report.
Noro psikiyatri arsiviAcute 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 experimentalOutcomes in octogenarians undergoing percutaneous coronary intervention: nationwide data from the Netherlands Heart Registration.
Journal of geriatric cardiology : JGCOnce-weekly somapacitan in children with Noonan syndrome: randomized controlled phase 3 trial.
European journal of endocrinologyDo Patients With Cleft Lip and Palate Have an Increased Risk of Short-Term Complications After Le Fort I Osteotomy?
The Journal of craniofacial surgeryCompanilactobacillus alimentarius CNTA 209 alleviates diet-induced obesity in mice through adipose tissue browning and gut barrier modulation.
Food & functionClinical 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)Neutrophil-to-lymphocyte ratio is associated with short-term mortality in patients with acute respiratory distress syndrome: a meta-analysis.
BMC infectious diseasesBioengineered ROS-tolerant probiotic reshapes gut microbiota-host axis to ameliorate type 2 diabetes in male mice.
Nature communicationsIn severe pneumonia or ARDS, low-dose, short-course corticosteroids vs. placebo or usual care reduce short-term mortality.
Annals of internal medicineRationale 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 failureAssociações
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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.
- 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.
- Glucagon-like peptide agonists and use in short bowel syndrome - what about the side effects?
- Acute food protein-induced enterocolitis syndrome in Switzerland: a 10-year retrospective review.
- Safety and effectiveness of phenobarbital vs. benzodiazepines for severe alcohol withdrawal in alcohol-associated liver disease in the ICU.
- Current and emerging approaches to manage chronic inflammatory gut disorders.
- Short-term outcomes and tolerability of a hyaluronic acid-based vaginal gel in the management of genitourinary syndrome of menopause: a retrospective observational study.
- Autoimmune and malignant diseases secondary to autoimmune/inflammatory syndrome induced by modeling substances (ASIA-MS): A short communication of a clinical case series.
- Effectiveness of radiofrequency therapy combined with pelvic floor muscle training in breast cancer survivors with genitourinary syndrome of menopause: a study protocol.
- Application of the Branch-First Technique in Mesenteric Malperfusion Syndrome Prior to Delayed Open Aortic Repair for Acute Type A Aortic Dissection.
- The clinician rated suicide crisis syndrome checklist (SCS-C): Structure, reliability, and concurrent validity among adult psychiatric inpatients.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2863(Orphanet)
- OMIM OMIM:185120(OMIM)
- MONDO:0008499(MONDO)
- GARD:4856(GARD (NIH))
- Busca completa no PubMed(PubMed)
- 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