Raras
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Síndrome facio-neuro-musculo-esquelético de Chipre
ORPHA:2674CID-10 · Q87.8OMIM 123853DOENÇA RARA

Síndrome dismórfica/de anomalias congénitas múltiplas, rara, caracterizada por aparência facial específica (consistindo numa prega cutânea triangular espessada e estriada que se estende da glabela à fontanela anterior, elevação bilateral da porção medial das sobrancelhas, hipertelorismo, pavilhões auriculares baixamente implantados e rodados posteriormente e bico de viúva), deformidades esqueléticas variáveis e alterações neuromusculares e sensoriais, que podem ser incapacitantes em alguns indivíduos. As caraterísticas reportadas incluem perda de massa muscular nos membros, cifoescoliose congénita, luxação da anca, talipes equinovarus congénito, artrogripose, rigidez/anquiloses articulares, ptose e cataratas. A inteligência é normal. Não foram reportados casos desde 1992.

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Introdução

O que você precisa saber de cara

📋

Síndrome dismórfica/de anomalias congénitas múltiplas, raras, caracterizadas por aparência facial específica (consistindo numa prega aparentemente triangular espessada e estriada que se estende da glabela à fontanela anterior, elevação bilateral da porção medial das sobrancelhas, hipertelorismo, pavilhões auriculares baixamente implantados e rodados posteriormente e bico de viúva), deformidades esqueléticas variáveis ​​e alterações neuromusculares e sensoriais, que podem ser incapacitantes em alguns indivíduos. As características relatadas incluem perda de massa muscular nos membros, cifoescoliose congénita, luxação da anca, talipes equinovarus congénito, artrogripose, desconforto/anquiloses articulares, ptose e cataratas. A inteligência é normal. Não foram relatados casos desde 1992.

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
1
pacientes catalogados
Início
Antenatal
+ 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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Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2025124 papers
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2026Hoje · 2026📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

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

🇧🇷 Atendimento SUS — Síndrome facio-neuro-musculo-esquelético de Chipre

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Impact of pediatric gastrointestinal disorders on learning and cognitive development in schoolchildren.

Annals of gastroenterology2026

Schoolchildren nowadays encounter multiple challenges within the teaching process. Learning disabilities (LD) are characterized as complex conditions that affect academic achievement and cognitive performance. LD are typically linked to neurodevelopmental and genetic factors. However, emerging evidence suggests they may be associated with gastrointestinal (GI) pathologies, including celiac disease, inflammatory bowel disease, irritable bowel syndrome, gastroesophageal reflux disease and Helicobacter pylori infection. The aforementioned GI disorders have been (indirectly) linked with a spectrum of outcomes, such as school functioning, attention regulation, fatigue, and broader cognitive and psychosocial development. The gut-brain axis enacts a crucial role in both cognition and behavior. Furthermore, functional GI disorders may also coexist with somatic symptom anxiety, including school refusal and hypervigilance to bodily sensations. A typical paradigm is emetophobia, an intense fear of vomit, which might result in food avoidance, social withdrawal or even academic disengagement. Moreover, iron and vitamin deficiencies, as manifestation of a malabsorption due to GI diseases, might impact concentration and memory. Additionally, sleep disturbances, chronic discomfort and psychological stress could deteriorate cognitive and educational functioning. This work reviews current evidence linking GI health to LD and related neurodevelopmental/psychological outcomes. Timely diagnosis and treatment, targeting both GI and psychological factors, might improve cognitive outcomes and learning potential in schoolchildren with LD. Future studies with longitudinal and interventional designs are warranted, in order to elucidate any causal relationships and to determine whether targeted treatment of GI disorders leads to objective improvement in learning and cognitive outcomes.

#2

Transcription Factor-Based Classification of Pituitary Neuroendocrine Tumors: Practical Immunohistochemical Algorithms, Molecular Correlates, and Diagnostic Challenges in the 5th WHO Era.

International journal of molecular sciences2026 Feb 28

Pituitary neuroendocrine tumors (PitNETs) constitute a significant proportion of primary intracranial neoplasms and were historically differentiated based on clinical hormone excess syndromes and tinctorial properties. The 5th edition of the WHO classification introduces a paradigm shift towards the lineage-based taxonomy based on the cell-specific expression of transcription factors (TFs). This overview focuses on the biological justifications and diagnostic value of the core TFs of Pituitary-Specific Positive Transcription Factor 1 (PIT1), T-Box Pituitary Transcription Factor (TPIT), and Steroidogenic Factor 1 (SF1), which signify the somatotroph, lactotroph, thyrotroph, corticotroph, and gonadotroph lineages, respectively. By focusing on TF expressions instead of hormone immunoreactivity, pathologists can better subtype clinically non-functioning tumors, effectively relegating the previously overutilized null cell category to about 1% of cases. The TF-based classification is also essential in discriminating high-risk histotypes of silent corticotroph tumors, sparsely granulated somatotrophs, and immature PIT1-lineage PitNETs, which are linked to a higher invasiveness and recurrence. We suggest a practical, stepwise immunohistochemical diagnostic algorithm with the integration of ancillary markers (e.g., GATA3 and ERα) to refine lineage assignment. New molecular correlates such as GNAS and USP8 mutations also add to this framework and guide the use of individualized treatment involving somatostatin analogs or dopamine agonists. And lastly, we discuss the ongoing issues of diagnosis of triple-negative and multilineage tumors and the growing importance of DNA methylation profiling and artificial intelligence in standardized reporting and improving precision management.

#3

Case Report: A novel use of Transcranial Pulse Stimulation in refractory Restless Legs Syndrome.

Frontiers in human neuroscience2026

Restless Legs Syndrome (RLS) is a sensorimotor disorder characterized by an irresistible urge to move the legs. When resistant to pharmacological and psychotherapeutic treatments, RLS remains highly debilitating. This case study represents the first documented case of Transcranial Pulse Stimulation (TPS) applied in treatment-resistant RLS, exploring its feasibility, tolerability, and potential clinical effects. A 56-year-old male diagnosed with RLS with severe, persistent bilateral leg restlessness and neuropathic cramping pain underwent six sessions of TPS target cortical and subcortical network hubs within the Functional Network-Oriented Neuromodulation (FNON) framework. At six-week follow-up, the patient reported improved sleep, a 95.2% reduction in RLS severity, a 66.7% decrease in pain/discomfort, and a 25% improvement in overall health status. Depression/Anxiety symptoms decreased by 25% while mobility and self-care remained stable at normal levels. In this single case, TPS was well tolerated and associated with meaningful symptomatic improvement. While no conclusions regarding safety or efficacy can be drawn from an individual observation, these findings suggest that TPS may warrant further investigation as non-invasive neuromodulatory approach for refractory RLS. This report expands the scientific literature by introducing a novel network-based neuromodulation modality to the RLS field and provides a foundation for future controlled studies to validate efficacy and optimize stimulation protocols.

#4

Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.

European journal of human genetics : EJHG2026 Feb 13

Europe's Beating Cancer Plan is a substantial European Union (EU) investment into cancer prevention and treatment. Integration of genetic services towards personalised cancer prevention and care is a flagship of this plan. Genetic counselling is critical to this integration, facilitating informed patient decision making and improved clinical management. However, growing demands for genetic testing and concurrently increasing workforce shortages necessitate new strategies to equitably ensure sustainable access to counselling across the EU. This project aimed to inform future European activities by identifying priority European strategies for addressing common European genetic literacy, workforce, and reimbursement barriers to genetic counselling in cancer noted in prior work. A Delphi survey was conducted, with genetics, oncology, and patient stakeholders invited from all EU Member States. The response rate was 62% (124 total invitations). Over three phases, 77 participants - 28 geneticists; 14 oncologists; 18 genetic counsellors; 16 patient representatives; 1 otherwise qualified expert - rated 19 strategies according to their Importance, Urgency, and Feasibility and selected their top three priority strategies. Five strategies met pre-defined consensus thresholds and received a clear plurality of priority ratings: (1) EU-wide genetic counsellor recognition; (2) Including genetics expertise in oncology guideline creation; (3) Shared EU genetic counsellor registration/education with legal weight; (4) Mandatory counselling reimbursement when clinical guidelines are met; (5) Mandatory inclusion of genetics in oncology fellowship/continuing education. Results provide a roadmap of European actions which promise to sustainably improve access to genetic counselling in cancer care. Upcoming and ongoing EU projects promise to advance their implementation.

#5

Oxidative Stress and SIRT1-Nrf2 Anti-Ferroptotic Pathways in Granulosa Cells: A Molecular Key to Follicular Atresia and Ovarian Aging.

International journal of molecular sciences2026 Jan 18

The functional deterioration of granulosa cells (GCs), essential for follicular growth, steroidogenesis, and oocyte competence, indicates ovarian aging and reduced fertility. An expanding corpus of research indicates that oxidative stress is a primary molecular contributor to granulosa cell dysfunction, culminating in mitochondrial impairment, reduced metabolic support for oocytes, and the activation of regulated apoptotic pathways that end in follicular atresia. Ferroptosis, an emergent type of iron-dependent lipid peroxidation, has been identified as a crucial mechanism contributing to chemotherapy-induced ovarian insufficiency, polycystic ovary syndrome (PCOS), and granulosa cell death in aging ovaries, in addition to conventional apoptosis. The SIRT1-Nrf2 axis acts as a crucial anti-oxidative and anti-ferroptotic system that protects GC viability, maintains mitochondrial homeostasis, and upholds redox equilibrium. SIRT1 promotes mitochondrial biogenesis and metabolic resilience by deacetylating downstream proteins, including FOXO3 and PGC-1α. Nrf2 simultaneously controls the transcriptional activation of detoxifying and antioxidant enzymes, including HO-1, SOD2, NQO1, and GPX4, which are critical inhibitors of ferroptosis. Disruption of SIRT1-Nrf2 signalling accelerates GC senescence, follicular depletion, and reproductive aging. In contrast, pharmaceutical and nutraceutical therapies, including metformin, melatonin, resveratrol, and agents that increase NAD+ levels, may reverse ovarian deterioration and reactivate SIRT1-Nrf2 activity. This narrative review highlights innovative treatment prospects for ovarian aging, fertility preservation, and assisted reproduction by synthesising current evidence on ferroptotic pathways, SIRT1-Nrf2 interactions, and oxidative stress in granulosa cells. An understanding of these interrelated biological networks enables the development of tailored therapies that postpone ovarian ageing and enhance reproductive outcomes for women receiving fertility therapy.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

Impact of pediatric gastrointestinal disorders on learning and cognitive development in schoolchildren.

Annals of gastroenterology
2026

Long-term prognostic value of apolipoprotein Β levels in patients with very premature (≤40 years) acute coronary syndrome.

Journal of clinical lipidology
2026

Update on Alport Syndrome: The Report of the 2024 International Workshop on Alport Syndrome.

Kidney international reports
2026

Clinical Physical Exam Shows High Sensitivity for Detecting Labral Tears in Individuals With Femoroacetabular Impingement Syndrome.

Arthroscopy : the journal of arthroscopic &amp; related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy Association
2026

Transcription Factor-Based Classification of Pituitary Neuroendocrine Tumors: Practical Immunohistochemical Algorithms, Molecular Correlates, and Diagnostic Challenges in the 5th WHO Era.

International journal of molecular sciences
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

Case Report: A novel use of Transcranial Pulse Stimulation in refractory Restless Legs Syndrome.

Frontiers in human neuroscience
2026

Corrigendum to "Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome" [Biochim. Biophys. Acta Mol. Basis Dis. 1872 (2026)/168184].

Biochimica et biophysica acta. Molecular basis of disease
2026

Lipoprotein(a) as a predictor of major adverse cardiovascular events in patients with very premature (≤40 years) acute coronary syndrome: long-term follow-up of the STudy of eArly Myocardial INfArction study.

Coronary artery disease
2026

Hidden SARS-CoV-2 Omicron Infections in Young Children: What Routine Tests Do Not Tell.

International archives of otorhinolaryngology
2026

FAIR data gaps and collaboration willingness among hemoglobinopathy research centers.

Scientific data
2026

Neonatal Sepsis-Induced Coagulopathy: An Evolving Frontier at the Crossroads of Inflammation and Hemostasis.

Seminars in thrombosis and hemostasis
2026

Incentive Spirometer in COVID-19: A Systematic Review.

Journal of clinical medicine
2026

Cephalalgia-A "Tricky" Symptom for the Cardiologist: Acute Coronary Syndrome Presenting as Headache.

Clinical case reports
2026

Prevalence and Risk of Carpal Tunnel Syndrome in Parkinson's Disease: A Systematic Review and Meta-Analysis.

Journal of functional morphology and kinesiology
2026

The Effect of Adverse Childhood Experiences on Coping With Premenstrual Syndrome and Sexual Myths.

Journal of interpersonal violence
2026

Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.

European journal of human genetics : EJHG
2026

Reduced serum and skeletal muscle MOTS c levels in women with polycystic ovary syndrome are associated with mitochondrial dysfunction.

Scientific reports
2026

The CARMUCI Study Design: A Double-Blind, Cross-Over Sham-Controlled Trial of Indoor Air Purification in People With Cystic Fibrosis and Primary Ciliary Dyskinesia.

Pediatric pulmonology
2026

Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome.

Biochimica et biophysica acta. Molecular basis of disease
2026

Extracorporeal Membrane Oxygenation (ECMO) for Acute Respiratory Distress Syndrome (ARDS) During Pregnancy: A Systematic Review.

Cureus
2025

Mechanistic Insights into Antioxidant Interventions Targeting Obesity-Induced Oxidative Stress in the Pathogenesis and Complications of Type 2 Diabetes Mellitus.

Current issues in molecular biology
2026

Effectiveness of Nutritional Interventions in Pre-Frail or Frail Older Adults: A Scoping Review.

Journal of clinical medicine
2026

Oxidative Stress and SIRT1-Nrf2 Anti-Ferroptotic Pathways in Granulosa Cells: A Molecular Key to Follicular Atresia and Ovarian Aging.

International journal of molecular sciences
2026

A Systematic Review on GLP-1 Receptor Agonists in Reproductive Health: Integrating IVF Data, Ovarian Physiology and Molecular Mechanisms.

International journal of molecular sciences
2026

Biallelic Truncating DNAH14 Variant in Siblings with Neurodevelopmental Disorder and Predominant Ataxia: Clinical Report and Literature Review.

International journal of molecular sciences
2026

Neurological Complications Associated With COVID-19 Compared to Other Viral Infections: A Systematic Review of Current Evidence.

Cureus
2026

Assessing quality of life in individuals with hereditary cancer risk: Results from phases 1-3a of the EORTC QLQ-HCR30 questionnaire.

European journal of cancer (Oxford, England : 1990)
2026

Therapeutic Advances in the Management of Cardiogenic Shock.

American journal of therapeutics
2026

The 2025 KDIGO guideline on the management of nephrotic syndrome in children: a comment of the European Renal Association Immunonephrology Working Group.

Clinical kidney journal
2026

A Real-Time Prospective Evaluation of the Prognostic Accuracy of SIRS, MEWS, NEWS2 and qSOFA in Predicting ICU Admission and Mortality in an Emergency Department: Implications for Nursing Practice.

Nursing in critical care
2026

Prognostic value of the ratio of globally sclerotic glomeruli in patients with idiopathic IgA nephropathy.

Scientific reports
2025

Birt-Hogg-Dubé Syndrome: A Mini Review of the Clinical Manifestations, Investigation, and Management.

Journal of personalized medicine
2026

The impact of olive oil polyphenol supplementation on metabolic syndrome parameters The OleoMetS study: A randomized, controlled clinical trial.

Clinical nutrition ESPEN
2026

The Diagnosis and Management of Pudendal Neuralgia.

Pain and therapy
2025

Optical Coherence Tomography in Acute Coronary Syndromes.

Reviews in cardiovascular medicine
2026

Amino acid residues L261, W264, F265, L268, and V269 of apolipoprotein E4 critically regulate adipose tissue metabolism.

Journal of lipid research
2025

Prevention of cardiometabolic risk in European children and adolescents - extended post-intervention follow-up of the IDEFICS/I.Family cohort.

European journal of preventive cardiology
2025

The Effect of Humeral Head Depressor Strengthening on Individuals with Subacromial Impingement Syndrome.

Medicina (Kaunas, Lithuania)
2025

Sex-Related Differences in Predictors of Acute Coronary Syndrome in Kosovo: A Cross-Sectional Study.

Journal of clinical medicine
2026

Time Trends in Acute Coronary Syndrome Hospitalizations and Outcomes in Patients With Systemic Lupus Erythematosus: A United States Inpatient Cohort Ana.

The Journal of rheumatology
2025

Effect of the prognostic nutritional index on stent restenosis in patients with chronic coronary syndrome.

Turkish journal of medical sciences
2025

West Nile Virus Neuroinvasive Disease Presenting with Acquired Fanconi Syndrome, Which Resolved on Recovery.

European journal of case reports in internal medicine
2025

Management of Patients with Nickel Hypersensitivity Undergoing Patent Foramen Ovale Closure.

Journal of clinical medicine
2025

Assessment of mitochondrial peptide humanin in women with polycystic ovary syndrome: serum and skeletal muscle profile.

Journal of endocrinological investigation
2025

Knowledge Mobilization Efforts by Global Pediatric Oncology Civil Society Organizations: An Environmental Scan Protocol.

Sage open pediatrics
2025

BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.

American journal of human genetics
2025

Peripheral Osteoma of the Maxillary Sinus in a Patient Planned for Sinus Augmentation.

Cureus
2025

Remdesivir: Effectiveness and Safety in Hospitalized COVID-19 Patients-Analysis of Retrospectively Collected Data from Daily Practice in the Omicron Variant Era and Comparison with the Pre-Omicron Period.

Microorganisms
2025

Cardiac Surgery and Postoperative Atrial Fibrillation: The Role of Cancer.

Medicina (Kaunas, Lithuania)
2025

Investigating the "Dark" Genome: First Report of Partington Syndrome in Cyprus.

Genes
2025

Immunotherapy-associated Cardiotoxicity: a Comprehensive Review of Checkpoint inhibitors, monoclonal, cellular, and cytokine-based Treatments.

Current treatment options in oncology
2025

The association of complete blood count parameters and obstructive sleep apnea in the Cypriot population.

Sleep &amp; breathing = Schlaf &amp; Atmung
2025

Limitations of hormonal and clinical markers in predicting GnRH agonist trigger success in polycystic ovary syndrome: A critical reappraisal.

PloS one
2025

First Report of Co-Occurring FGF14 (SCA27B) and RFC1 (CANVAS) Repeat Expansions in Two of Three Siblings with Late-Onset Cerebellar Ataxia.

Cerebellum (London, England)
2025

Neurophysiological evaluation of third window syndrome.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
2025

Lack of SLC26A9-mediated chloride secretion causes mucus plugging and severe respiratory distress in neonatal mice.

JCI insight
2025

Communication and feeding skills in Rett syndrome: Case report.

Journal of intellectual &amp; developmental disability
2026

Corrigendum to "Early life factors and later metabolic syndrome in European children and adolescents" [Nutr Metabol Cardiovasc Dis 2025 35(4):103808].

Nutrition, metabolism, and cardiovascular diseases : NMCD
2026

Multidisciplinary orthodontic and prosthetic treatment of an eleven-year-old patient with a solitary median maxillary central incisor: A case report.

International orthodontics
2025

Risk of Autoimmune Rheumatic Diseases following COVID-19: A Systematic Review and Meta-Analysis.

Current rheumatology reviews
2025

European Respiratory Society and American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia.

The European respiratory journal
2026

Sport Activities for Children and Adolescents: Part 2. Joint Position Statement of Paediatric Societies on Physical Activity and Sport Recommendations for Children With Specific Chronic Disease Conditions.

Acta paediatrica (Oslo, Norway : 1992)
2025

Bio-tensegrity and extracellular matrix disruption in the pathogenesis of persistent post-operative pain: a hypothesis.

Frontiers in physiology
2025

Self-testing for 5 respiratory viruses in adult VACCELERATE volunteers in Germany-a pilot study on multi-pathogen rapid antigen testing to monitor community-acquired acute respiratory infections.

Frontiers in public health
2025

Development and Statistical Validation of the Metabolic Surgery Indication Score: Standardized Procedure Selection in Metabolic and Bariatric Surgery.

Obesity facts
2026

Post-acute COVID-19 Syndrome: Brain Fog Phenotype, Patient-Centric Understanding, and Biopsychosocial-Oriented Treatment.

Archives of physical medicine and rehabilitation
2025

Disrupted Biotensegrity in the Fiber Cellular Fascial Network and Neuroma Microenvironment: A Conceptual Framework for "Phantom Limb Pain".

International journal of molecular sciences
2025

Quality of Life in Adult Individuals Living With or at Risk of a Hereditary Cancer Predisposition Syndrome: A Scoping Review of the Qualitative Literature.

Cancer medicine
2026

Comparative effectiveness and safety of probiotics with psychotropic potential in mental health benefits in irritable bowel syndrome: a systematic review and network meta-analysis.

European journal of gastroenterology &amp; hepatology
2025

Edwards syndrome: Neurocognitive and linguistic profile, diagnosis, overlaps and treatment.

Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego
2025

European survey on metabolic and cardiovascular risk in Cushing syndrome.

Journal of endocrinological investigation
2025

Towards consensus: The need for standardised definitions in Long (post) COVID care in 34 European countries.

The European journal of general practice
2025

Group A Streptococcal Invasive Infections Among Children in Cyprus.

Microorganisms
2025

Are Dietary and Serum Advanced Glycation End Products (AGEs) Potential Contributors to Inflammation in Women with Polycystic Ovary Syndrome?

Journal of clinical medicine
2025

A frameshift mutation in the PRG4 gene causing camptodactyly-arthropathy-coxa vara-pericarditis syndrome: a case report.

Modern rheumatology case reports
2025

Two sides of the coin: coagulation and inflammation in deep vein thrombosis - a prospective study on D-dimer and SIRI.

Frontiers in medicine
2025

Identification of a novel, pathogenic CREBBP variant in a patient with Menke-Hennekam syndrome: a Case Report.

Frontiers in genetics
2025

Was an aortic valve replacement with a mechanical valve the right option all along? Cogan's syndrome with recurrent aortic regurgitation: a case of evolving surgical decisions.

Oxford medical case reports
2025

Subjective well-being in early-phase schizophrenia patients using long-acting injectable versus oral antipsychotic drugs: Data from the European Long-acting Antipsychotics in Schizophrenia Trial (EULAST).

European psychiatry : the journal of the Association of European Psychiatrists
2025

The Role of Landiolol in Coronary Artery Disease: Insights into Acute Coronary Syndromes, Stable Coronary Artery Disease and Computed Tomography Coronary Angiography.

Journal of clinical medicine
2025

Venous thromboembolism associated with infections: a systematic review and meta-analysis.

European journal of internal medicine
2025

Risk stratification of childhood infection using host markers of immune and endothelial activation in Asia (Spot Sepsis): a multi-country, prospective, cohort study.

The Lancet. Child &amp; adolescent health
2025

Metastatic Pheochromocytoma in a Patient With Li-Fraumeni Syndrome.

JCEM case reports
2025

The plica syndrome in the knee - A histopathological pilot study.

Pathology, research and practice
2025

Communication Abilities, Assessment Procedures, and Intervention Approaches in Rett Syndrome: A Narrative Review.

Brain sciences
2025

The Prevalence of Supernumerary Teeth in a Sample of Non-Syndromic Young Patients from Greece.

Dentistry journal
2025

The long reach of influenza and other respiratory viruses: from acute epithelial injury to post-viral lung disease.

Clinical microbiology reviews
2025

An unusual survival for 6.5 years with end-stage hepatitis C related advanced liver cirrhosis following sustained virologic response with direct antiviral agents - A case report from A low-resource setting.

Nigerian medical journal : journal of the Nigeria Medical Association
2025

Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series.

The Lancet. Neurology
2025

Synchronization and dynamics of modified fractional order Kawasaki disease model with chaos stability control.

Scientific reports
2025

Successful full-dose rechallenge after fruquintinib-associated posterior reversible encephalopathy syndrome.

European journal of cancer (Oxford, England : 1990)
2025

Effect of 40:1 myo-inositol/D-chiro-inositol treatment on serum asprosin levels in polycystic ovary syndrome: a prospective randomized pilot study.

Ginekologia polska
2025

Heavy Chain Deposition Disease in Monoclonal Gammopathy of Renal Significance: A Prodrome of Multiple Myeloma Case and Literature Review.

Cureus
2025

Ultra-Processed Foods Consumption and Metabolic Syndrome in European Children, Adolescents, and Adults: Results from the I.Family Study.

Nutrients
2025

Unraveling a New Lesion After Coronary Stent Implantation by Intravascular Ultrasound.

JACC. Case reports
2025

Disrupted circadian rhythms and opioid-mediated adverse effects: Bidirectional relationship and putative mechanisms.

Journal of neuroendocrinology
2026

Radial Nerve Palsy Compression Injury at Spiral Groove From Self-myofascial Release: A Case Report and a Literature Review.

Annals of plastic surgery
2025

Effect of antibiotic administration on Blastocystis persistence and gut microbiome-metabolome dynamics in an irritable bowel syndrome longitudinal case study.

Access microbiology
2025

Acute Coronary Syndrome Manifesting Dynamic Electrocardiographic Changes.

Clinical case reports
2025

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.

medRxiv : the preprint server for health sciences
2025

Evaluating the efficacy of a mobile epilepsy education package application developed for the parents/caregivers of children with epilepsy in Canada.

Epilepsy &amp; behavior : E&amp;B
2025

Gut Microbiome Dysbiosis and Its Impact on Reproductive Health: Mechanisms and Clinical Applications.

Metabolites
2025

International consensus statement on routine blood testing in primary ciliary dyskinesia.

ERJ open research
2025

Nonconvulsive Status Epilepticus in a Case with Down Syndrome.

Neurology India
2025

Multiple breath washout in primary ciliary dyskinesia: a systematic review of the literature.

European respiratory review : an official journal of the European Respiratory Society
2025

Cerebellar Micro Complex Model Using Histologic Boolean Mapping Simulates Adaptive Motor Control.

Neuroinformatics
2025

Development and external validation of a risk prediction score (DASHI) for cardiovascular events following acute respiratory infections: derivation and validation retrospective cohort study.

EClinicalMedicine
2025

Management strategies for CAR-T cell therapy-related toxicities: results from a survey in Greece.

Frontiers in medicine
2026

Autologous Serum Tears in the Management of Ocular Surface Diseases: A Comprehensive Review of Published Evidence.

Seminars in ophthalmology
2025

Chronic Fatigue in Cancer Survivorship: Psychiatry Versus Oncology or Psychiatry with Oncology?

Current oncology reports
2025

Familial Kidney Disease Phenocopying Hypertensive Nephropathy.

Glomerular diseases
2025

SCUBE-1 Levels and Their Relationship with Endothelial Dysfunction in Obstructive Sleep Apnea Syndrome Patients.

Nature and science of sleep
2025

Chemical chaperone 4-phenylbutyrate treatment alleviates the kidney phenotype in a mouse model of Alport syndrome with a pathogenic variant in Col4a3.

Kidney international
2025

Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study.

BJC reports
2025

The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS).

Genetics in medicine : official journal of the American College of Medical Genetics
2025

Mid‑trimester ultrasound findings in tricho‑hepato‑enteric syndrome: A case report.

Biomedical reports
2025

The prognostic value of positive stress echocardiography and its relationship with invasive coronary angiography: Rationale and design of the multicenter stress echo trial - AMPHIPOLIS.

Current problems in cardiology
2025

Tumor molecular signatures: bridging the bench and the operating room.

American journal of surgery
2025

Psychological and Clinical Factors Mediate Post-COVID-19 Irritable Bowel Syndrome.

Neurogastroenterology and motility
2025

Complement activation in secondary thrombotic microangiopathies.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
2025

Genetic Modifiers Associated with Vaso-Occlusive Crises and Acute Pain Phenomena in Sickle Cell Disease: A Scoping Review.

International journal of molecular sciences
2025

Malignancies and glomerulonephritis: when to suspect and when to screen?

Clinical kidney journal
2025

Four New Patients of HHAT -Related Multiple Congenital Anomalies Syndrome (Nivelon-Nivelon-Mabille Syndrome) and a Comprehensive Literature Review.

American journal of medical genetics. Part A
2026

NAXCARE: a clinical outcome registry for Naxos disease and related cardiocutaneous syndromes.

Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheorese
2025

Styloid process-related internal carotid artery dissection: extensive literature review of diagnosis, treatment and outcomes (exemplified with a single-center case series).

Neuroradiology
2025

A Retrospective Evaluation of the Cardiometabolic Profile of Patients with COPD-Related Type 2 Respiratory Failure in the Intensive Care Unit.

Medicina (Kaunas, Lithuania)
2025

Endocrinopathies in children with inborn errors of immunity: a single-center experience.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2025

Preeclampsia with posterior reversible encephalopathy syndrome and cerebral venous sinus thrombosis in a pregnant patient with COVID-19.

Agri : Agri (Algoloji) Dernegi'nin Yayin organidir = The journal of the Turkish Society of Algology
2025

COVID- 19 in patients affected by red blood cell disorders, results from the European registry ERN-EuroBloodNet.

Orphanet journal of rare diseases
2025

Diagnostic domains, differential diagnosis and conditions requiring further medical attention that are considered important in the assessment for Achilles tendinopathy: a Delphi consensus study.

British journal of sports medicine
2025

Mills syndrome as a rare and significant motor neuron disease: a case report.

Neurocase
2025

Randomized controlled trial to evaluate the impact of follicle priming on IVM outcomes in women with polycystic ovaries: CFA versus FSH-B.

Human reproduction (Oxford, England)
2025

Pancreatic neuroendocrine neoplasms (pNENs): Genetic and environmental biomarkers for risk of occurrence and prognosis.

Seminars in cancer biology
2025

Clinic, Ambulatory and Home Blood Pressure Monitoring for Metabolic Syndrome: Time to Change the Definition?

Medicina (Kaunas, Lithuania)
2025

Long-Term Impact of COVID-19 on Disorders of Gut-Brain Interaction: Incidence, Symptom Burden, and Psychological Comorbidities.

United European gastroenterology journal
2025

Clinical Characteristics and Outcomes of Takotsubo Syndrome Patients with Gastrointestinal Diseases: A Systematic Review.

International journal of cardiology. Heart &amp; vasculature
2025

Exploring the Role of the Cerebellum in Pain Perception: A Narrative Review.

Pain and therapy
2025

Five Years of Long COVID Syndrome: An Updated Review on Cardiometabolic and Psychiatric Aspects.

Cardiology research
2025

Navigating Electrocardiographic Risk Stratification and Therapeutic Strategies in Acute Coronary Syndrome Without ST-Segment Elevation.

The American journal of cardiology
2025

Long-COVID from the perspective of neurologists at the outpatient clinic: A cross-sectional field study.

Neurological research
2025

Lesion network mapping of REM Sleep Behaviour Disorder.

NeuroImage. Clinical
2025

Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome.

Acta neuropathologica communications
2025

Left renal vein transposition using autologous gonadal vein graft in patient with combined anterior nutcracker and May-Thurner syndromes.

BMJ case reports
2025

A scarce case: Co-occurrence of neurofibromatosis type 1 and Klinefelter syndrome.

Global medical genetics
2025

In vitro maturation in subfertile women with polycystic ovarian syndrome undergoing assisted reproduction.

The Cochrane database of systematic reviews
2025

Serum choline, leptin and interleukin-6 levels in fibromyalgia syndrome-induced pain: a case-control study.

BMC musculoskeletal disorders
2025

Naxos Disease and Related Cardio-Cutaneous Syndromes.

JACC. Advances
2025

Epidemiology of metabolic syndrome.

Pflugers Archiv : European journal of physiology
2025

Shattering the Amyloid Illusion: The Microbial Enigma of Alzheimer's Disease Pathogenesis-From Gut Microbiota and Viruses to Brain Biofilms.

Microorganisms
2025

The Effect of Autologous Serum Tears 50% on the Ocular Surface of Patients With Severe Dry Eye Disease due to Sjogren Syndrome: A Prospective, Double-Blind, Randomized, Controlled, Contralateral Eye Study.

Cornea
2024

Dysphagia in Rare Diseases and Syndromes: Current Approaches to Management and Therapeutic Innovations-A Systematic Review.

Healthcare (Basel, Switzerland)
2025

The impact of new-onset atrial fibrillation in the setting of acute coronary syndrome.

Journal of cardiology
2025

Early life factors and later metabolic syndrome in European children and adolescents.

Nutrition, metabolism, and cardiovascular diseases : NMCD
2025

Factors associated with quality of life in long-COVID syndrome.

International journal of rehabilitation research. Internationale Zeitschrift fur Rehabilitationsforschung. Revue internationale de recherches de readaptation
2024

Enhancing Communication and Swallowing Skills in Children with Cri Du Chat Syndrome: A Comprehensive Speech Therapy Guide.

Children (Basel, Switzerland)
2025

Nonpharmacological Management of Cancer-Related Cachexia: A Systematic Review.

Seminars in oncology nursing
2025

Hajdu-Cheney Syndrome, a Rare Cause of Acro-Osteolysis and Osteoporosis With Zoledronic Acid Experience.

American journal of medical genetics. Part A
2025

Strongyloides stercoralis infection in a patient initiating corticosteroid therapy for hypereosinophilia: A case report.

Parasitology international
2025

Clinical Characteristics and Genotype-phenotype Correlation in Turkish Patients with a Diagnosis of Resistance to Thyroid Hormone Beta.

Journal of clinical research in pediatric endocrinology
2025

Effectiveness of pharmacological therapies for fibromyalgia syndrome in adults: an overview of Cochrane Reviews.

Rheumatology (Oxford, England)
2024

Gout: global epidemiology, risk factors, comorbidities and complications: a narrative review.

BMC musculoskeletal disorders
2025

Non-Hospitalized Patients With Post-COVID Condition and Myopathic Electromyography Findings Show no Difference in Symptom Severity and Clinical Manifestations Compared to Those Without Myopathic Findings.

Muscle &amp; nerve
2025

Management of severe pyogenic spinal infections: the 2SICK study by the EANS spine section.

The spine journal : official journal of the North American Spine Society
2024

A rare complication of transurethral resection: Transient Blindness.

Ulusal travma ve acil cerrahi dergisi = Turkish journal of trauma &amp; emergency surgery : TJTES
2025

Learning from post-COVID-19 condition for epidemic preparedness: a variable catalogue for future post-acute infection syndromes.

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases
2025

Unveiling New Clinical and Genetic Insights in Ultra-Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort.

Clinical genetics
2024

Contribution of Sex Steroids in Management of Tall Stature: Is It Effective or Not?

Hormone research in paediatrics
2024

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

Frontiers in genetics
2024

Into the Cauldron of the Variant Soup: Insights into the Molecular Epidemiology and Transition to Endemicity of SARS-CoV-2 in Cyprus (November 2022-February 2024).

Viruses
2024

Effect of Different Dietary Patterns on Cardiometabolic Risk Factors: An Umbrella Review of Systematic Reviews and Meta-Analyses.

Nutrients
2024

The effectiveness and characteristics of physiotherapy interventions on adults with iliotibial band syndrome. A scoping review.

Journal of bodywork and movement therapies
2024

Immunophenotyping myelodysplastic neoplasms: the role of flow cytometry in the molecular classification era.

Frontiers in oncology
2024

The Relationship Between Prenatal, Perinatal, and Postnatal Factors and ADHD: The Role of Nutrition, Diet, and Stress.

Developmental psychobiology
2024

Intranasal Oxytocin Combined With Social Skills Training for Schizophrenia: An Add-on Randomized Controlled Trial.

Schizophrenia bulletin open
2024

Risk factors for SARS-CoV-2 infection in Jordan: A cross-sectional study in the prevaccination period.

Journal of infection in developing countries
2024

2024 Recommendations on the Optimal Use of Lipid-Lowering Therapy in Established Atherosclerotic Cardiovascular Disease and Following Acute Coronary Syndromes: A Position Paper of the International Lipid Expert Panel (ILEP).

Drugs
2024

Germline copy number variants and endometrial cancer risk.

Human genetics
2024

Single-Cell Analysis of Bone Marrow CD8+ T Cells in Myeloid Neoplasms Reveals Pathways Associated with Disease Progression and Response to Treatment with Azacitidine.

Cancer research communications
2024

Distinctive characteristics, risk factors, and prevention of premature myocardial infarction: A narrative review.

Journal of family medicine and primary care
2024

Post-Meningitic Syndrome: Pathophysiology and Consequences of Streptococcal Infections on the Central Nervous System.

International journal of molecular sciences
2024

Lipid Accumulation Product Is Predictive of Cardiovascular Hospitalizations among Patients with Stable Ischemic Heart Disease: Long-Term Follow-Up of the LAERTES Study.

Journal of cardiovascular development and disease
2025

Insulin Resistance, Hyperinsulinemia and Atherosclerosis: Insights into Pathophysiological Aspects and Future Therapeutic Prospects.

Current cardiology reviews
2024

Horner's syndrome as an unusual complication of retropharyngeal schwannoma excision.

Hippokratia
2024

Telehealth for rare disease care, research, and education across the globe: A review of the literature by the IRDiRC telehealth task force.

European journal of medical genetics
2024

A successful outcome in four puppies sustained swimmer puppy syndrome.

Veterinary research communications
2024

Biallelic Deletion of PEX26 Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease.

Molecular syndromology
2024

The Effectiveness of Lee Silverman Voice Treatment (LSVT LOUD) on Children's Speech and Voice: A Scoping Review.

Brain sciences
2024

Clinical symptoms and psychosocial functioning in patients with schizophrenia spectrum disorders testing seropositive for anti-NMDAR antibodies: a case-control comparison with patients testing negative.

The lancet. Psychiatry
2025

Ketamine and Hydroxynorketamine as Novel Pharmacotherapies for the Treatment of Opioid Use Disorders.

Biological psychiatry
2025

Pharmacokinetics and Bioequivalence of a Generic Ticagrelor 90-mg Formulation Versus the Innovator Product in Healthy White Subjects Under Fasting Conditions.

Clinical pharmacology in drug development
2024

From Viral Infections to Alzheimer's Disease: Unveiling the Mechanistic Links Through Systems Bioinformatics.

The Journal of infectious diseases
2024

The Antioxidant Potential of Vitamins and Their Implication in Metabolic Abnormalities.

Nutrients
2024

Bridging the Gap between Galectin-3 Expression and Hypertensive Pregnancy Disorders: A Narrative Review.

Journal of clinical medicine
2024

Emerging Therapeutic Targets for Acute Coronary Syndromes: Novel Advancements and Future Directions.

Biomedicines
2024

The Clinical and Genetic Landscape of Hereditary Cancer: Experience from a Single Clinical Diagnostic Laboratory.

Cancer genomics &amp; proteomics
2025

Deciphering Breast Origin in Malignant Effusions: The Diagnostic Utility of an MGP, GATA-3, and TRPS-1 Immunocytochemical Panel.

Pathobiology : journal of immunopathology, molecular and cellular biology
2024

Predictors of drug-resistant epilepsy in childhood epilepsy syndromes: A subgroup analysis from a prospective cohort study.

Epilepsia
2024

Diagnostic and management challenges in paediatric Cushing's syndrome.

Clinical endocrinology
2024

Breaking the Chain: Protease Inhibitors as Game Changers in Respiratory Viruses Management.

International journal of molecular sciences

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Síndrome facio-neuro-musculo-esquelético de Chipre.

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Síndrome facio-neuro-musculo-esquelético de Chipre

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

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ainda não achamos doenças com sintomas parecidos o suficiente.

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. Impact of pediatric gastrointestinal disorders on learning and cognitive development in schoolchildren.
    Annals of gastroenterology· 2026· PMID 41868884mais citado
  2. Transcription Factor-Based Classification of Pituitary Neuroendocrine Tumors: Practical Immunohistochemical Algorithms, Molecular Correlates, and Diagnostic Challenges in the 5th WHO Era.
    International journal of molecular sciences· 2026· PMID 41828530mais citado
  3. Case Report: A novel use of Transcranial Pulse Stimulation in refractory Restless Legs Syndrome.
    Frontiers in human neuroscience· 2026· PMID 41821960mais citado
  4. Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.
    European journal of human genetics : EJHG· 2026· PMID 41688774mais citado
  5. Oxidative Stress and SIRT1-Nrf2 Anti-Ferroptotic Pathways in Granulosa Cells: A Molecular Key to Follicular Atresia and Ovarian Aging.
    International journal of molecular sciences· 2026· PMID 41596597mais citado
  6. The plica syndrome in the knee - A histopathological pilot study.
    Pathol Res Pract· 2025· PMID 40743577recente
  7. A 52-Year-Old Man with Aneurysmal Subarachnoid Hemorrhage Associated with Delayed-Onset Vitreous Hemorrhage (Terson's Syndrome) Successfully Treated with Balloon-Assisted Coiling and Delayed Vitrectomy.
    Am J Case Rep· 2024· PMID 39086102recente
  8. Can CANVAS due to RFC1 biallelic expansions present with pure ataxia?
    J Neurol Neurosurg Psychiatry· 2024· PMID 37414537recente
  9. The Need for Translational Epidemiology in Beta Thalassemia Syndromes: A Thalassemia International Federation Perspective.
    Hematol Oncol Clin North Am· 2023· PMID 36907602recente
  10. Association Between Computer Vision Syndrome, Insomnia, and Migraine Among Lebanese Adults: The Mediating Effect of Stress.
    Prim Care Companion CNS Disord· 2022· PMID 35960893recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2674(Orphanet)
  2. MONDO:0007413(MONDO)
  3. GARD:9487(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55780466(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 facio-neuro-musculo-esquelético de Chipre

ORPHA:2674 · MONDO:0007413
Prevalência
<1 / 1 000 000
Casos
1 casos conhecidos
Herança
Autosomal dominant
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
OMIM
123853
Início
Antenatal, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1852396
Wikidata
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