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🇧🇷 Atendimento SUS — Síndrome de camptodactilia-hiperplasia do tecido fibroso-anomalias esqueléticas
Centros de Referência SUS
24 centros habilitados pelo SUS para Síndrome de camptodactilia-hiperplasia do tecido fibroso-anomalias esqueléticas
Centros para Síndrome de camptodactilia-hiperplasia do tecido fibroso-anomalias esqueléticas
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
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Publicações mais relevantes
Mavacamten Derivatives Significantly Ameliorate Lipopolysaccharide-Induced Acute Lung Injury, Partly by Modulating Nuclear Factor Kappa‑B Signaling.
Acute lung injury (ALI) and Acute respiratory distress syndrome (ARDS) are critical pulmonary disorders marked by excessive inflammation and cytokine storm, often resulting in respiratory failure and high mortality, especially if untreated. Mavacamten, a first-in-class cardiac myosin ATPase inhibitor (small-molecule), is known for reducing pathological hypercontractility; however, its role in ALI/ARDS remains unexplored. Recently, we synthesized and reported the novel mavacamten derivatives incorporating the 6-chloro-3-isopropyl-1-methylpyrimidine-2,4-(1H,3H)-dione scaffold via a catalyst-free method. This study aimed to investigate the anti-inflammatory and antioxidant activities of mavacamten and its derivatives (17 compounds) using LPS-induced inflammation models in vitro and in vivo (LPS-induced mouse model). Initial screening by IL-6 inhibition results demonstrated that mavacamten and its derivatives (5d and 5o) significantly reduced IL-6 levels compared to the LPS control and other derivatives. Further, in vitro analysis showed 5d and 5o treatment significantly downregulated the LPS-induced elevation of several key pro-inflammatory markers (IL-1β, IL-6, TNF-α, CCL2, and F4/80) and oxidative stress indicators (ROS, nitric oxide, and p-cofilin), while restoring caveolin-1 levels. Furthermore, in vivo administration of 5d and 5o (1.5 and 3 mg/kg) significantly attenuated LPS-induced increase in lung and heart indices, reduced systemic inflammatory markers (monocytes, WBCs, and neutrophils), and restored platelet and lymphocyte counts, indicating mitigation of inflammatory cell infiltration at the injury site. Gene and protein expression analyses confirmed a reduction in the expression of inflammatory markers dose dependently. Histopathological examination revealed that 5d and 5o markedly alleviated LPS-induced lung (alveolar edema, wall thickening) and heart (myocardial inflammation) abnormalities. Mechanistic findings demonstrate that compounds 5d and 5o effectively reduced the LPS-induced inflammation and tissue injury by modulating NF-κB signaling in both in vitro and in vivo conditions, highlighting their translational potential as therapeutic candidates for the treatment of ALI/ARDS.
Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre.
Congenital Zika syndrome (CZS) represents a spectrum of fetal and neonatal abnormalities resulting from in utero Zika virus (ZIKV) transmission during pregnancy. Given the severe multisystem disabilities, relative recency of the epidemic and limited long-term data, comprehensive characterization at specialized centres is crucial. This study aimed to examine clinical symptoms, brain imaging and brain activity (video electroencephalography, VEEG) patterns in children with CZS receiving care at a specialized rehabilitation centre. We conducted a cross-sectional study from August 2018 to January 2019 with 48 children diagnosed with CZS according to the Brazilian Ministry of Health criteria. We collected clinical data from electronic medical records. The most common clinical problems included bladder and bowel incontinence (97.9%), epilepsy (85.5%), facial abnormalities (89%), swallowing difficulties (83.3%), excessive irritability (81.3%), eye misalignment (75%), sleep problems (72.9%), acid reflux (62.0%) and vision problems (62.5%). Brain imaging revealed reduced brain tissue volume (95.8%), abnormal corpus callosum (91.1%), enlarged fluid-filled spaces in the brain (89.5%), calcium deposits at the brain's outer layers (78.3%) and abnormally thick brain folds (71.1%). We found significant links between bone/muscle malformations and both white matter disease (p = 0.036) and enlarged brain ventricles (p = 0.031). Children with CZS consistently show motor difficulties, multiple clinical problems and characteristic brain abnormalities. These findings predict significant limitations in daily activities, movement and cognitive-social development.
Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
Stickler syndrome is a monogenic connective tissue disorder primarily caused by pathogenic variants in collagen-related genes, most commonly COL2A1. Prenatal diagnosis remains challenging, particularly in healthcare systems with limited access to molecular genetic testing. We report a prenatal case of suspected craniofacial anomaly detected on second-trimester ultrasound. Fetal DNA obtained by amniocentesis underwent next-generation sequencing. Parental testing was performed to assess inheritance. It was confirmed that autosomal dominant Stickler syndrome type I (ORPHA:90653) was caused by a heterozygous pathogenic frameshift variant in COL2A1 (c.3137del) that was inherited from the mother and identified in the fetus. Micrognathia was identified during prenatal ultrasound, and postnatal evaluation revealed characteristics that were consistent with Pierre Robin sequence and connective tissue involvement. The molecular discoveries elucidated the observed phenotype and facilitated multidisciplinary perinatal management. This case underscores the indispensable function of molecular diagnostics in the prenatal identification of monogenic disorders, including Stickler syndrome, in cases where conventional karyotyping is inadequate. Targeted clinical surveillance and family counseling are facilitated by early genetic confirmation. The report also emphasizes the necessity of incorporating molecular diagnostics into routine prenatal care for rare genetic diseases and the systemic limitations in access to genomic testing. Although the identified variant has been previously reported, this case highlights the clinical and diagnostic value of prenatal molecular confirmation in a resource-limited healthcare setting.
Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.
Limb malformations are paradigmatic of altered gene regulation in human disease. Nail-Patella Syndrome (NPS) is a rare condition characterized mainly by skeletal defects, glomerulonephritis and glaucoma, with variable expressivity. NPS is caused by the haploinsufficiency or loss-of-function of LMX1B, which encodes a transcription factor involved in limb dorsalization, in the renal glomerular filtration barrier and the anterior segment of the eye. The dorsal expression of LMX1B in the developing limbs is under the control of LMX1B autoregulatory modules (LARMs), which are non-coding cis-regulatory elements (CREs) with a limb-specific enhancer activity. Here, we describe the regulatory landscape and report regulatory anomalies at the LMX1B locus in four families, including the deletion of a CRE, two structural variations disrupting the CRE-promoter interaction, and a 5'UTR variant causing an upstream open reading frame (ORF). Molecular mechanisms involving the non-coding genome can have a tissue-specific impact on gene expression, resulting in incomplete forms of the syndrome, and sometimes modifying its classical mode of inheritance. While approximately 95% of individuals with NPS carry pathogenic variants in the coding regions of LMX1B, non-coding alterations explain the remaining cases. This work highlights the importance of genomic diagnosis (gene ORF versus CRE alteration) for precision medicine and genetic counselling in rare diseases.
Collectin-11 regulates osteoclastogenesis and bone maintenance via a complement-dependent mechanism.
The human developmental disorder 3MC syndrome (Malpuech, Michels, Mingarelli, and Carnevale) features skeletal deformities associated with a deficiency of the pattern recognition molecule collectin-11 (CL-11), yet the underlying molecular and cellular mechanisms remain uncertain. Here, we demonstrate that CL-11 deletion alone does not produce skeletal abnormalities in mice; however, combined deficiencies of CL-11 with complement components MASP-2 (lectin pathway), complement factors B, or C3 (alternative pathway amplification) result in marked vertebral bone loss and spinal curvature by 12 wk of age. Ex vivo osteoclast (OCL) differentiation from bone marrow-derived cells of these double-knockout mice was profoundly impaired but was substantially restored by CL-11 supplementation. This dependence on CL-11 and complement was recapitulated in human OCLs derived from induced pluripotent stem cell lines. CL-11 and the membrane attack complex (C5b-9) colocalized to OCLs and their precursors in normal bone from embryonic development through to adulthood. Together, these findings identify CL-11 as a key regulator of osteoclastogenesis and bone homeostasis acting in concert with complement-mediated signaling, and they nominate CL-11 as a potential therapeutic target in conditions involving dysregulated osteoclast function and bone remodeling.
Publicações recentes
Ver todas no PubMed📚 EuropePMCmostrando 200
Effect of Lee Silverman Voice Treatment-BIG Intervention Versus Balance Training via Tele-rehabilitation on Balance and Functional Mobility Among Community-Dwelling Elderly: A Comparative Study.
CureusDevelopment of metabolic syndrome by increasingly fructose-enriched water in Wistar rats.
Journal of molecular histologyTailored Charles' Procedure and Vascularized Lymph Node Transfer for Advanced Stage Klippel-Trenaunay Syndrome.
Acta chirurgica BelgicaUnexpected detection of clear cell sarcoma of soft tissue during single-channel endoscopic carpal tunnel release for recurrent carpal tunnel syndrome: a case report with literature review.
Frontiers in surgeryThe pathogenic ADAMTSL2 D167N variant causes geleophysic dysplasia-like connective tissue changes in mice.
The American journal of pathologyRobo2-Nrxn3 Deficiency: A Molecular Hub Linking Excitation-Inhibition Imbalance to the Pathogenesis of Schizophrenia.
Schizophrenia bulletinBeyond the tear: the enduring role of aortic pathology in the era of genomic medicine.
Open heartMavacamten Derivatives Significantly Ameliorate Lipopolysaccharide-Induced Acute Lung Injury, Partly by Modulating Nuclear Factor Kappa‑B Signaling.
ACS pharmacology & translational scienceAtypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult-Onset in a 46-Year-Old Male.
American journal of medical genetics. Part ATransvenous biopsy of body cistyc lesions in a 32-year-old man with cloves syndrome and thrombocytopenia: a safe option for high bleeding risk patients.
CVIR endovascularDeficient Cardiolipin Remodelling Alters Muscle Fibre Composition and Neuromuscular Connectivity in Barth Syndrome.
Journal of cachexia, sarcopenia and muscleOral Manifestations of Non Vascular Ehlers-Danlos Syndrome Cross-Sectional Study.
Oral diseasesClinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre.
International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceSpectrum and Clinical Reproductive Significance of Cytogenetic Abnormalities in Infertility and Recurrent Early Pregnancy Loss: A Five-Year Retrospective Study of 10,285 Cases.
CureusPre-operative High-Resolution CT and MRI Evaluation in Pediatric Cochlear Implant Candidates: Correlation With Surgical Findings and Outcomes.
CureusBony Stroke: Clinical Features, Management, and Outcomes in a Case Series of Seven Patients.
CureusThe e ffec t of the nose fo rm o n lin ear and a ngular lip po sitio n in C l as s II patients.
JPMA. The Journal of the Pakistan Medical AssociationPrenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
International journal of molecular sciencesMotor Neuronopathy With Widespread Fasciculations in MCM3AP-Related Disorder: Clinical and Muscle MRI Insights.
Journal of the peripheral nervous system : JPNSSilent Lung Injury: Acute Respiratory Distress Syndrome without Chest Trauma Following a High-Level Fall.
International medical case reports journal[Advantageous therapeutic pathways and mechanisms of Jianpi Huogu Formula in treating steroid-induced osteonecrosis of femoral head based on multi-source heterogeneous data integration of disease-syndrome-formula framework].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica[Advance in research on MIRAGE syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsClear Cell Foci as Precursors of Hepatocyte Nuclear Factor 1-alpha-inactivated Hepatocellular Adenoma in a Metabolic Syndrome Mouse Model.
Acta histochemica et cytochemicaClinical Features and Outcomes of Spontaneous Tumor Lysis in Testicular Germ Cell Tumors: A Case Series From a Cancer Center in Lahore, Pakistan.
CureusProteomic analysis of tissue-derived extracellular vesicles shows region-specific molecular changes in a rat model of takotsubo syndrome.
Scientific reportsAbsence of lumbosacral plexus abnormalities in preschool children with tethered cord syndrome: A multiparametric MRI study.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryCase Report: Whole-genome sequencing of urothelial carcinoma in an adult patient with CLOVES syndrome reveals a lack of PIK3CA mutation and a genomic landscape consistent with urothelial carcinoma.
Frontiers in oncologyBilateral Ankyloblepharon Filiforme Adnatum: A Case Report Highlighting the Importance of Early Recognition and Treatment.
CureusCardiac Tamponade and Arrest Secondary to Simultaneous Gastric and Sigmoid Volvulus With Sigmoid Obstruction From an Incarcerated Left Inguinal Hernia.
CureusTibetan medicine Bawei Chenxiang Wan attenuates chronic mountain sickness by targeting the AKT/FOXO3a/CAT axis to inhibit oxidative stress.
Journal of ethnopharmacologyOrgan-Specific Histopathological Effects of Prenatal Alcohol Exposure: A Narrative Review.
Congenital anomaliesβ-Nicotinamide mononucleotide preserves muscle strength in septic male mice.
Scientific reportsClinical Insights into Operative Hysteroscopy Using the Bigatti Shaver: A Pioneer's Perspective From Indonesia.
Journal of gynecology obstetrics and human reproductionDevelopment and characterization of a model of mucopolysaccharidosis type IVA for evaluating therapies targeting bone disease.
Disease models & mechanismsCase Report: Deletion in the 5' untranslated region of TAFAZZIN in a boy with Barth syndrome.
Frontiers in cardiovascular medicineDual-energy CT based low flow rate, low dose CTPA and lung perfusion in the pulmonary diagnosis of post-COVID-19 syndrome.
Frontiers in medicineNon-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.
European journal of human genetics : EJHGCollectin-11 regulates osteoclastogenesis and bone maintenance via a complement-dependent mechanism.
Proceedings of the National Academy of Sciences of the United States of AmericaHypercalciuria in Sanjad-Sakati Syndrome: A Retrospective Evaluation of Kidney Involvement Indicators.
CureusRetinal detachment in patients with Sticklers syndrome: A comprehensive analysis for craniofacial surgeons.
JPRAS openCortisol and testosterone: Which is more important in metabolic syndrome men.
Wiadomosci lekarskie (Warsaw, Poland : 1960)Cell-type-specific alternative splicing in the brain and kidney of a Setbp1S858R Schinzel-Giedion syndrome mouse.
Disease models & mechanismsUnique mineralization pattern revealed in TBCK syndrome mouse model.
bioRxiv : the preprint server for biologyCongenital Temporomandibular Joint Ankylosis: Investigating Potential Genetic Etiologies with Whole Exome Sequencing.
Journal of clinical medicineFrom Metabolism to Mind: The Cardio-Metabolic-Brain Axis and the Role of Insulin Resistance-A Review.
BiomedicinesKaempferol ameliorates PCOS by alleviating metabolic and endocrine abnormalities as well as oxidative stress.
SteroidsFamilial pneumothorax in twins with Tatton-Brown-Rahman DNMT3A overgrowth syndrome.
European journal of human genetics : EJHGA transient receptor potential vanilloid 1-dependent corneal-trigeminal neuroinflammatory circuit promotes corneal neuropathy.
Experimental & molecular medicineFrom Thymic Hypoplasia to Immune Reconstitution: An Immunological Review of DiGeorge Syndrome.
Scandinavian journal of immunologyNeutrophil extracellular traps in gynecological disease: pathogenic mechanisms and therapeutic opportunities.
Frontiers in medicineLeft Ventricular Pericardial Strangulation: A Diagnostic Challenge in Acute Coronary Syndrome.
Methodist DeBakey cardiovascular journalComprehensive in silico analysis of genetic landscape and pathways involved in Stickler syndrome.
PloS oneClinical Guidelines for the Diagnosis and Management of Generalized and Partial Lipodystrophies: A Position Statement Endorsed by the Hellenic Endocrine Society.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsCase Report: Early-onset VEXAS syndrome with recurrent pulmonary inflammation and myelodysplasia: a diagnostic and therapeutic challenge.
Frontiers in immunologyAplasia cutis congenita of the scalp with skull defect: an individual patient data systematic review of clinical features and treatment approaches.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryNot So Normal Skin: A Review of the "Random" Skin Biopsy.
The American Journal of dermatopathologyInterplay of Lifestyle Social Determinants and Isolation in the Risk of Metabolic Syndrome Among Spanish Workers.
CureusIn Search of a Biomarker for Vasculopathy Associated with Metabolic Syndrome.
Handbook of experimental pharmacologyNuclear receptors: a pandora of hope for metabolic syndrome.
Nucleosides, nucleotides & nucleic acidsTwins With Pathogenic RNF113A Variant Presenting With Testicular Regression Syndrome.
JCEM case reportsMeesmann Corneal Dystrophy with Epithelial Basement Membrane Abnormalities: Clinical and Genetic Analysis of Two Families with Novel and Known Mutations in KRT3 and KRT12.
International journal of molecular sciencesLoss of Myofilaments in Gastrointestinal Smooth Muscle: A Novel Pathological Finding in MELAS-Associated Chronic Intestinal Pseudo-Obstruction.
Neurogastroenterology and motilityDate palm pollen extract improves fertility and pregnancy outcomes in letrozole-induced polycystic ovary syndrome rats.
Journal of molecular histologyCardiometabolic Syndromes and Associated Cardiovascular Risks: A Narrative Review.
Journal of vascular researchHydrogel-imposed boundary conditions guide single-lumen neuroepithelial morphogenesis.
bioRxiv : the preprint server for biologyComplete bilateral second branchial cleft fistula in an adolescent: a rare case report with literature review.
Annals of medicine and surgery (2012)Phenotyping Dysautonomia in Unexplained Syncope: Diagnostic Yield and Therapeutic Implications in a Moroccan Cohort.
CureusProtective role of early Tnfsf15 upregulation in limiting glomerular injury and proteinuria in experimental Alport Syndrome.
Journal of pharmacological sciencesLevetiracetam prevents Aβ production through SV2a-dependent modulation of APP processing in Alzheimer's disease models.
Science translational medicineTherapeutic Potential of Mesenchymal Stem Cells in Pediatric Kidney Disorders: A Comprehensive Review.
Health science reportsSupravalvular aortic stenosis with aneurysmal dilation and infective vegetations of the aortic arch in a pediatric patient with Williams syndrome: a case report and review of the literature.
Journal of medical case reportsIntegrative metabolomics and proteomics reveal early cardiovascular risk signatures in PCOS female offspring.
Journal of ovarian researchNager Syndrome Revisited: Integrating In Vivo and In Vitro Models to Decipher SF3B4-Dependent Tissue Coordination.
WIREs mechanisms of diseaseUreteral versus appendiceal Mitrofanoff channels: a retrospective analysis of functional outcomes and complications.
BMC surgeryMolecular convergence enables precision medicine for pediatric low grade gliomas.
Discover oncologyUnraveling the Mechanistic Spectrum of Myhre Syndrome: SMAD4 Signaling Disruption, Skeletal Phenotypes, and Translational Innovation.
American journal of medical genetics. Part C, Seminars in medical geneticsUnilateral accessory tragi in a cat.
Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, IncMSTO1-related mitochondrial myopathy and ataxia syndrome: Case series and literature review.
Neuromuscular disorders : NMDApproach to the Patient: Therapeutic Mitigation of Lacrimal Manifestations in Thyroid Eye Disease.
The Journal of clinical endocrinology and metabolismIdentification of a novel THRB mutation causing thyroid hormone resistance syndrome.
Archives of endocrinology and metabolismOrosomucoid 2 improves reproductive phenotypes in a mouse model of PCOS induced by letrozole under high-fat diet conditions.
Molecular human reproductionThe interactions between autophagy and immune in the liver-adipose-ovary circuit of polycystic ovary syndrome.
Frontiers in immunologyA novel homozygous ADAMTS10 frameshift variant in Weill-Marchesani syndrome in a Chinese family.
BMC medical genomicsTracheal cartilaginous sleeve prevalence in syndromic craniosynostosis: A single institution study.
International journal of pediatric otorhinolaryngologyDevelopment of a zebrafish model of Loeys-Dietz syndrome through tgfbr2b knockdown.
Journal of human geneticsDownregulated ECHS1 and HADH-mediated fatty acid β-oxidation contributes to mitochondrial dysfunction in salivary glands of Sjögren's syndrome.
Journal of translational autoimmunityMarfan Syndrome-Comprehensive Dental/Surgical Management: Clinical Case Report.
International journal of clinical pediatric dentistryThe Metacarpophalangeal Pattern Profile: An Old Method With New Insights Into the Evaluation of Short Stature.
American journal of human biology : the official journal of the Human Biology CouncilEndothelial NLRP3 inflammasome activation drives immunothrombosis in Streptococcus pyogenes infection.
Life sciencesChronic fatigue syndrome induced by environmental toxic exposure: Effects of polyhexamethyleneguanidine phosphate exposure on mitochondrial function and neural health.
Environmental researchGenetic Analysis of Prenatal Renal Abnormalities in 17q12 Microdeletion Syndrome.
Maternal-fetal medicine (Wolters Kluwer Health, Inc.)Fetal MRI: abdominal cystic lesions.
Insights into imagingCase Report: Postmenopausal hyperandrogenism misled by adrenal incidentaloma: a rare case of androgen-secreting ovarian adult granulosa cell tumor and clinical implications.
Frontiers in oncologyHigh Prevalence of Anthropometric-Only Obesity and Cardiometabolic Risk: Evidence from a Population-Based Study.
NutrientsGaps in Current Cardiometabolic Risk Assessment: A Review Supporting the Development of the C.O.R.E. Indicator Model.
Journal of clinical medicineGut Microbiota in Lipodystrophies and Obesity: A Common Signature?
MicroorganismsState-of-the-Art Research and New Pharmacological Perspectives on Renal Involvement in Duchenne Muscular Dystrophy: A Narrative Review.
BiomedicinesBeyond Neurodevelopmental Delay: BICRA-Related Coffin-Siris Syndrome 12 with Severe Intestinal Dysmotility and Recurrent Pneumothorax.
GenesComprehensive Analysis of the Influence of Soft Palate Inflammation in Brachycephalic Dogs with BOAS III.
Animals : an open access journal from MDPIThe Role of Imaging Techniques in the Evaluation of Extraglandular Manifestations in Patients with Sjögren's Syndrome.
Diagnostics (Basel, Switzerland)Treacher-Collins Syndrome With Anorectal Malformation: A Rarity and a Challenge for the Surgical Team.
CureusInvestigation of Dietary Habits, Anthropometric Profile, and Hormone Levels of Women of Childbearing Age With Polycystic Ovary Syndrome (PCOS).
CureusMolecular profile of pediatric pseudotumor cerebri: the role of apelin isoforms and oxidative stress.
BMC pediatricsPersistent organic pollutants: Neurotoxic mechanisms and insights from organoid models.
ToxicologyIntegrated metabolomic and proteomic analysis of cardiac tissues in a murine model of Kawasaki disease.
Journal of pharmaceutical and biomedical analysisPrenatal Diagnosis of Radio-Tartaglia Syndrome Caused by a Loss-of-Function Variant in SPEN in a Chinese Family.
International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceYangjing Zhongyu decoction ameliorates polycystic ovary syndrome via multi-organ ferroptosis inhibition: A mechanistic study.
Journal of ethnopharmacologyImmune thrombocytopenia in patients with connective tissue disease.
Clinical rheumatologyAnnular Pancreas Presenting with Intermittent Duodenal Obstruction in Early Childhood: A Diagnostic Masquerade.
Reports (MDPI)Orthodontic Appliance-Related Mucosal Ulcerations in Newborns and Infants With Craniofacial Disorders.
Clinical and experimental dental researchClinical presentations of macrodactyly in adults vs. children: a descriptive analysis.
The Journal of hand surgery, European volumeHypercalcemia of malignancy in a dog with cutaneous apocrine gland carcinoma and malignant myoepithelioma.
Veterinary research communicationsA Clinico-Epidemiological Study of Scrub Typhus Cases in a Tertiary Care Center of a Non-endemic Area.
CureusAssessment of Thyroid Hormone Status Among Patients With Chronic Kidney Disease in a Tertiary Care Center: A Cross-Sectional Study.
CureusEntirely Right-Sided Colon: A Case Report.
CureusThe Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome.
American journal of medical genetics. Part AGrowth factor analysis in children with non-syndromic orofacial clefts: a systematic review.
BMC oral healthA typical canine Ehlers-Danlos-like syndrome without collagen abnormalities: a suspected case of Tenascin-X deficiency.
BMC veterinary researchMitochondrial AR overactivation coupled with uterine decidual mitochondrial defects in PCOS-associated pregnancy loss.
The Journal of endocrinologyQuantitative Assessment of Visual Function in Japanese Patients With Lecithin-Cholesterol Acyltransferase Gene Abnormalities: A Case-Control Study.
CureusOsteoporosis in Patients With Marfan Syndrome: A Narrative Review of Bone Health and Management.
CureusProximal Junctional Kyphosis Following Spinal Thoracic Deformity Correction in a Patient with Kabuki Syndrome: A Case Report.
Journal of orthopaedic case reportsUnraveling cardiac anomalies in pediatric neurofibromatosis type 1: insights and implications.
European journal of pediatricsPaediatric Presentations of Early-Onset Glaucoma and Stickler Syndrome: A Case Series.
Case reports in ophthalmologyIdentification and Evaluation of Menstruation-Related Disorders in Adolescent Girls Attending a Tertiary Care Center: An Observational Study.
CureusPrimary pulmonary hypoplasia masquerading as pneumonia in a preterm neonate and creating a diagnostic challenge: a case report.
Journal of medical case reportsFertility preservation and counselling in prepubertal and pubertal girls with Turner syndrome.
Human reproduction (Oxford, England)Degradation of Elastic Fiber Triggers Lacrimal Gland Dysfunction in Marfan Syndrome Mice.
Investigative ophthalmology & visual scienceEffectiveness of Delivery Room Continuous Positive Airway Pressure in Term Neonates With Respiratory Distress: A Single-Center Experience.
CureusPulmonary Involvement in Proteus Syndrome: Clinical and Imaging Correlates in a Rare Case.
Case reports in radiologyThe Sh3Pxd2bnee-/- mouse reveals developmental features of Frank-ter Haar syndrome.
Development (Cambridge, England)Variability, asymmetry and sexual dimorphism in craniofacial anomalies in Loeys-Dietz syndrome 2: geometric morphometric analysis in mice.
Scientific reportsAnaesthetic Management of a Patient with Marfan Syndrome Undergoing Elective Ventral Hernia Repair.
Healthcare (Basel, Switzerland)Mayer-Rokitansky-Kuster-Hauser Syndrome: From Radiological Diagnosis to Further Challenges-Review and Update.
Diagnostics (Basel, Switzerland)Virus-induced endothelial senescence as a cause and driving factor for ME/CFS and long COVID: mediated by a dysfunctional immune system.
Cell death & diseaseCongenital perineal and perianal lipoma with and without anorectal malformation. A case series of eleven patients and updated literature review.
Journal of pediatric surgerySpinal Pathologies Associated With Loeys-Dietz Syndrome: A Systematic Review.
Global spine journalComparative Real-World Safety Profiles of Six Selective Serotonin Reuptake Inhibitors: A Global Pharmacovigilance Analysis.
CureusSurveillance of a PLOD gene variant linked to fragile foal syndrome in Silesian horses in Poland: implications for genetic monitoring and breeding strategies.
Journal of veterinary researchStructural and functional gastrointestinal abnormalities in ACTA2 R179H mice modeling multisystemic smooth muscle dysfunction syndrome.
JCI insightSARS-CoV-2 Spike Protein-Mediated Cardiac Dysfunction: Structural Abnormalities, Impaired Calcium Dynamics, and Gene Expression Changes in Human Stem Cell-Derived Cardiomyocytes.
Journal of medical virologyViolaceous Pretibial Plaques: A Clue to Periodontal Variant of Ehlers-Danlos Syndrome.
Fetal and pediatric pathologyMarfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity.
American journal of medical genetics. Part AMagnetic resonance imaging of penile Prostheses: A pictorial review of normal appearances and complications.
European journal of radiologyAplasia Cutis Congenita and Congenital Heart Disease: A Case Report, Highlighting the Limitation of Antenatal Screening.
The American journal of case reportsAdipose-androgen crosstalk in polycystic ovary syndrome: mechanisms and therapeutic implications.
Frontiers in endocrinologyA 4-Decade Population-Based Registry of Thoracic Aortic Dissection Causing Sudden Death in the Young.
JACC. AdvancesA Rare Case of Müllerian Agenesis With a Giant Tumor Arising From Uterine Remnants.
Case reports in obstetrics and gynecologyAcute Exacerbation of Interstitial Lung Disease: Early Diagnosis and Treatment.
Medicina (Kaunas, Lithuania)Clinical Validation of a Fast MRI Method to Evaluate Brain Vascular and Parenchymal Abnormalities in Sturge-Weber Syndrome.
Journal of magnetic resonance imaging : JMRIDifferential phenotypes in mice with smooth muscle-specific heterozygous versus homozygous deletion of Stk11.
Scientific reportsBiophysical basis for brain folding and misfolding patterns in ferrets and humans.
eLifeAn Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery.
Clinical, cosmetic and investigational dermatologyUsefulness of salivary gland ultrasonography in Sjögren's syndrome: The Tunisian Experience.
Clinical rheumatologyCXCR4 antagonism corrects neutrophil abnormalities and reduces pneumonia severity in a pharmacological mouse model of CXCR2 loss-of-function-mediated neutropenia.
Frontiers in immunologyBeyond Traditional Risk Factors: Inflammation, Asymmetric Dimethylarginine, and N-Terminal pro-B-Type Natriuretic Peptide Predict Cardiovascular Risk in Chronic Kidney Disease.
CureusClinical Significance of Molecular Genetic Analysis in Diffuse Intrinsic Pontine Glioma: Two Case Reports.
Pediatric blood & cancerIntegrated Multi-Omic Analysis Identifies Altered Colonic Brush Border Profile as a Key Feature of Microscopic Colitis.
United European gastroenterology journalWhy and How Are Infants with Hutchinson-Gilford Progeria Syndrome Born Without Severe Manifestations?
Medical sciences (Basel, Switzerland)Trained immunity attenuated acute lung injury by activating alveolar macrophages via AKT2-PDK1 axis-mediated metabolic reprogramming.
Journal of translational medicineSignificant improvement of neurological and radiological findings caused by multiple lateral meningocele by cyst-subarachnoid shunt in a 6-year-old boy: case report.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryBrain perfusion scintigraphy with [99mTc]Tc-HMPAO in patients with autoimmune diseases.
Nuclear medicine review. Central & Eastern EuropeAscher syndrome unmasked: a rare cause of acquired blepharochalasis in a young female.
Orbit (Amsterdam, Netherlands)Kisspeptin mediates the impact of chronic psychological stress on reproductive and metabolic dysregulation in polycystic ovary syndrome: evidence from human and rat models.
Journal of ovarian researchAdalimumab-responsive Monogenic Inflammatory Bowel Disease With Pseudopolyposis Characteristic of TGFBR2 Variant in Loeys-Dietz Syndrome.
DEN openThe role of interleukin-37 and interleukin-38 in the development and remission of autism spectrum disorder: a comprehensive review of neuroinflammatory mechanisms and potential therapeutic implications.
Frontiers in immunologyCardiac Postpneumonectomy Syndrome.
Annals of thoracic surgery short reportsPyometrocolpos: A Case Series and Proposed Management Framework for the Pediatric Infectious Diseases Consultant.
The Pediatric infectious disease journalThe association of point-of-care coagulation testing with bleeding symptoms in patients with Ehlers-Danlos syndrome: an exploratory cross-sectional study.
Canadian journal of anaesthesia = Journal canadien d'anesthesieAnorectal Pathophysiology in Solitary Rectal Ulcer Syndrome: Insights From a Cross-Sectional Study.
CureusWeather and Seasonality Associations With Vestibular Neuritis.
CureusChest Imaging Findings and Tissue Biopsy Experience in a Patient with Type IV Ehlers-Danlos Syndrome: A Case Report.
Journal of the Korean Society of RadiologyBiallelic null RAB3GAP1 variants impair cortical development and autophagy in Warburg Micro syndrome: evidence from fetal brain tissue and patient fibroblasts.
Acta neuropathologica communicationsIdentification of Novel and Recurrent FBN1 Gene Mutations in Two Unrelated Turkish Families with Isolated Ectopia Lentis: A Case Report with Insights from a Literature Review.
Molecular syndromologyWNT10A-SMOC2-LRP4 network affects permanent tooth development via potential tooth-bone interaction.
BMC oral healthAnother ciliopathy? Uncovering the ciliary basis of biliary atresia.
Hepatology internationalCharacteristics of the meibomian gland in a population without dry eye symptoms.
Scientific reports[POEMS syndrome misdiagnosed as systemic sclerosis: A case report].
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciencesCase Report: Skeletal and cardiovascular alterations compatible with a connective tissue disorder in an elderly dog.
Frontiers in veterinary scienceClinical application of preimplantation genetic testing for pathogenic microdeletion and microduplication based on an effective and convenient sequencing platform.
Journal of assisted reproduction and geneticsLate Gadolinium Enhancement in Takotsubo Syndrome: Mechanism and Its Clinical Significance.
Echocardiography (Mount Kisco, N.Y.)[Hidden paths: rare etiology of renal pelvicalyceal dilatation].
PraxisLipid Metabolism Alterations in Hereditary Inorganic Pyrophosphate Deficiency Syndromes: A Narrative Review of Insights and Controversies.
Journal of inherited metabolic diseaseTibial Nerve Palsy Secondary to Spontaneous Isolated Popliteus Muscle Rupture and Localized Compartment Syndrome.
Diagnostics (Basel, Switzerland)Alterations in Resident Immune Cells in Prenatal Trisomy 21 Lungs.
CellsUnveiling the Spectrum of Liver Endurance in Systemic Lupus Erythematosus: A Single-Center Experience From Kashmir, India.
CureusSternotomy healing by secondary intention in a complex single ventricle patient after stage 1 palliation.
Journal of cardiothoracic surgeryModulation of PI3K/AKT/mTOR signaling pathway by combined stem cell and phytochemical treatment improves metabolic and reproductive outcomes in PCOS.
Journal of ovarian researchTranscriptome analyses reveal the fertility defect in the Dp(16)1Yey/+ mouse model of Down syndrome.
Journal of assisted reproduction and geneticsMuscle mitochondrial changes in antisynthetase syndrome and other idiopathic inflammatory myopathies.
Journal of neuropathology and experimental neurologyMitral Valve Repair for Mitral Regurgitation Associated with Antiphospholipid Syndrome: A Case Report.
Surgical case reportsClinical presentation of the accessory soleus muscle: a quantitative systematic review.
Surgical and radiologic anatomy : SRAA proposed nosology of inherited disorders of the extracellular matrix (ECM): Insights from the IEMbase and dyadic classification.
Molecular genetics and metabolismVideo-Polysomnography in Peripheral Nerve Hyperexcitability: Clues to Morvan Syndrome in Two Patients and Literature Review.
Journal of clinical neurophysiology : official publication of the American Electroencephalographic SocietyA Rare Autopsy Finding of Müllerian and Renal Agenesis Linked to Suspected AMHR2 Pathway Disruption.
CureusDelayed Dexamethasone Absorption from Gluteal Abscesses: Persistent Iatrogenic Cushing Syndrome.
Clinical medicine insights. Endocrinology and diabetesMacrophages in ventricular remodeling and heart failure: orchestrators of inflammation and repair.
Frontiers in immunologyMapping cardiac innervation in the long QT syndrome type 1 transgenic mouse model using whole heart imaging.
Cardiovascular pathology : the official journal of the Society for Cardiovascular PathologyFindings in younger versus older patients with the symptoms of gastroparesis undergoing gastric electrical stimulation.
Journal of pediatric gastroenterology and nutritionOmphalocele and patent omphalomesenteric duct with ileal prolapse in a syndromic baby: A case report and review of the literature.
International journal of surgery case reportsAssociações
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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.
- Mavacamten Derivatives Significantly Ameliorate Lipopolysaccharide-Induced Acute Lung Injury, Partly by Modulating Nuclear Factor Kappa‑B Signaling.
- Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience· 2026· PMID 41839214mais citado
- Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
- Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.
- Collectin-11 regulates osteoclastogenesis and bone maintenance via a complement-dependent mechanism.Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41774788mais citado
- Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1321(Orphanet)
- MONDO:0008900(MONDO)
- GARD:1064(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55781705(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