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.
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
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
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Genética e causas
O que está alterado no DNA e como passa nas famílias
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🇧🇷 Atendimento SUS — Síndrome facio-neuro-musculo-esquelético de Chipre
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JACC. AdvancesEpidemiology of metabolic syndrome.
Pflugers Archiv : European journal of physiologyShattering the Amyloid Illusion: The Microbial Enigma of Alzheimer's Disease Pathogenesis-From Gut Microbiota and Viruses to Brain Biofilms.
MicroorganismsThe 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.
CorneaDysphagia in Rare Diseases and Syndromes: Current Approaches to Management and Therapeutic Innovations-A Systematic Review.
Healthcare (Basel, Switzerland)The impact of new-onset atrial fibrillation in the setting of acute coronary syndrome.
Journal of cardiologyEarly life factors and later metabolic syndrome in European children and adolescents.
Nutrition, metabolism, and cardiovascular diseases : NMCDFactors associated with quality of life in long-COVID syndrome.
International journal of rehabilitation research. Internationale Zeitschrift fur Rehabilitationsforschung. Revue internationale de recherches de readaptationEnhancing Communication and Swallowing Skills in Children with Cri Du Chat Syndrome: A Comprehensive Speech Therapy Guide.
Children (Basel, Switzerland)Nonpharmacological Management of Cancer-Related Cachexia: A Systematic Review.
Seminars in oncology nursingHajdu-Cheney Syndrome, a Rare Cause of Acro-Osteolysis and Osteoporosis With Zoledronic Acid Experience.
American journal of medical genetics. Part AStrongyloides stercoralis infection in a patient initiating corticosteroid therapy for hypereosinophilia: A case report.
Parasitology internationalClinical Characteristics and Genotype-phenotype Correlation in Turkish Patients with a Diagnosis of Resistance to Thyroid Hormone Beta.
Journal of clinical research in pediatric endocrinologyEffectiveness of pharmacological therapies for fibromyalgia syndrome in adults: an overview of Cochrane Reviews.
Rheumatology (Oxford, England)Gout: global epidemiology, risk factors, comorbidities and complications: a narrative review.
BMC musculoskeletal disordersNon-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 & nerveManagement of severe pyogenic spinal infections: the 2SICK study by the EANS spine section.
The spine journal : official journal of the North American Spine SocietyA rare complication of transurethral resection: Transient Blindness.
Ulusal travma ve acil cerrahi dergisi = Turkish journal of trauma & emergency surgery : TJTESLearning 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 DiseasesUnveiling New Clinical and Genetic Insights in Ultra-Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort.
Clinical geneticsContribution of Sex Steroids in Management of Tall Stature: Is It Effective or Not?
Hormone research in paediatricsCase report: Rethinking NGS analysis in diagnosing Diamond-Blackfan anemia syndrome.
Frontiers in geneticsInto 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).
VirusesEffect of Different Dietary Patterns on Cardiometabolic Risk Factors: An Umbrella Review of Systematic Reviews and Meta-Analyses.
NutrientsThe effectiveness and characteristics of physiotherapy interventions on adults with iliotibial band syndrome. A scoping review.
Journal of bodywork and movement therapiesImmunophenotyping myelodysplastic neoplasms: the role of flow cytometry in the molecular classification era.
Frontiers in oncologyThe Relationship Between Prenatal, Perinatal, and Postnatal Factors and ADHD: The Role of Nutrition, Diet, and Stress.
Developmental psychobiologyIntranasal Oxytocin Combined With Social Skills Training for Schizophrenia: An Add-on Randomized Controlled Trial.
Schizophrenia bulletin openRisk factors for SARS-CoV-2 infection in Jordan: A cross-sectional study in the prevaccination period.
Journal of infection in developing countries2024 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).
DrugsGermline copy number variants and endometrial cancer risk.
Human geneticsSingle-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 communicationsDistinctive characteristics, risk factors, and prevention of premature myocardial infarction: A narrative review.
Journal of family medicine and primary carePost-Meningitic Syndrome: Pathophysiology and Consequences of Streptococcal Infections on the Central Nervous System.
International journal of molecular sciencesLipid 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 diseaseInsulin Resistance, Hyperinsulinemia and Atherosclerosis: Insights into Pathophysiological Aspects and Future Therapeutic Prospects.
Current cardiology reviewsHorner's syndrome as an unusual complication of retropharyngeal schwannoma excision.
HippokratiaTelehealth 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 geneticsA successful outcome in four puppies sustained swimmer puppy syndrome.
Veterinary research communicationsBiallelic Deletion of PEX26 Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease.
Molecular syndromologyThe Effectiveness of Lee Silverman Voice Treatment (LSVT LOUD) on Children's Speech and Voice: A Scoping Review.
Brain sciencesClinical 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. PsychiatryKetamine and Hydroxynorketamine as Novel Pharmacotherapies for the Treatment of Opioid Use Disorders.
Biological psychiatryPharmacokinetics and Bioequivalence of a Generic Ticagrelor 90-mg Formulation Versus the Innovator Product in Healthy White Subjects Under Fasting Conditions.
Clinical pharmacology in drug developmentFrom Viral Infections to Alzheimer's Disease: Unveiling the Mechanistic Links Through Systems Bioinformatics.
The Journal of infectious diseasesThe Antioxidant Potential of Vitamins and Their Implication in Metabolic Abnormalities.
NutrientsBridging the Gap between Galectin-3 Expression and Hypertensive Pregnancy Disorders: A Narrative Review.
Journal of clinical medicineEmerging Therapeutic Targets for Acute Coronary Syndromes: Novel Advancements and Future Directions.
BiomedicinesThe Clinical and Genetic Landscape of Hereditary Cancer: Experience from a Single Clinical Diagnostic Laboratory.
Cancer genomics & proteomicsDeciphering 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 biologyPredictors of drug-resistant epilepsy in childhood epilepsy syndromes: A subgroup analysis from a prospective cohort study.
EpilepsiaDiagnostic and management challenges in paediatric Cushing's syndrome.
Clinical endocrinologyBreaking the Chain: Protease Inhibitors as Game Changers in Respiratory Viruses Management.
International journal of molecular sciencesAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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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.
- Impact of pediatric gastrointestinal disorders on learning and cognitive development in schoolchildren.
- Transcription Factor-Based Classification of Pituitary Neuroendocrine Tumors: Practical Immunohistochemical Algorithms, Molecular Correlates, and Diagnostic Challenges in the 5th WHO Era.
- Case Report: A novel use of Transcranial Pulse Stimulation in refractory Restless Legs Syndrome.
- Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.
- Oxidative Stress and SIRT1-Nrf2 Anti-Ferroptotic Pathways in Granulosa Cells: A Molecular Key to Follicular Atresia and Ovarian Aging.
- The plica syndrome in the knee - A histopathological pilot study.
- 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.
- Can CANVAS due to RFC1 biallelic expansions present with pure ataxia?
- The Need for Translational Epidemiology in Beta Thalassemia Syndromes: A Thalassemia International Federation Perspective.
- Association Between Computer Vision Syndrome, Insomnia, and Migraine Among Lebanese Adults: The Mediating Effect of Stress.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2674(Orphanet)
- MONDO:0007413(MONDO)
- GARD:9487(GARD (NIH))
- Busca completa no PubMed(PubMed)
- 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