A síndrome de Crouzon, acrocefalossindactilia tipo II ou disostose craniofacial foi descrita pela primeira vez em 1921 por Louis Crouzon e constitui uma das síndromes do grupo das acrocefalossindactilias. Esse grupo heterogêneo de síndromes caracteriza-se por uma fusão sutural prematura que ocorre isoladamente ou associada a outras anomalias.
Introdução
O que você precisa saber de cara
Condição autossômica recessiva rara associada a mutações no gene IL11RA, caracterizada pela fusão prematura de suturas cranianas (craniossinostose) e diversas anomalias dentárias, como erupção atrasada. Pode apresentar braquicefalia, dolicocefalia, proptose e ausência de martelo.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 20 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 49 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Receptor for interleukin-11 (IL11). The receptor systems for IL6, LIF, OSM, CNTF, IL11 and CT1 can utilize IL6ST for initiating signal transmission. The IL11/IL11RA/IL6ST complex may be involved in the control of proliferation and/or differentiation of skeletogenic progenitor or other mesenchymal cells (Probable). Essential for the normal development of craniofacial bones and teeth. Restricts suture fusion and tooth number Soluble form of IL11 receptor (sIL11RA) that acts as an agonist of IL11 a
MembraneSecreted
Craniosynostosis and dental anomalies
A disorder characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly.
Variantes genéticas (ClinVar)
112 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
1 via biológica associada aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Craniossinostose e anomalias dentárias
Centros de Referência SUS
24 centros habilitados pelo SUS para Craniossinostose e anomalias dentárias
Centros para Craniossinostose e anomalias dentárias
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
Nenhum ensaio clínico registrado para esta condição.
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The Turkish journal of pediatricsNon-ketotic hyperglycaemic hemichorea as the first manifestation of undiagnosed diabetes mellitus in an elderly patient.
Endocrinology, diabetes & metabolism case reportsAbnormality detection in soft tissues: Multivariate outlier framework based on multi mechanical characterization using indentation.
Medical engineering & physicsDetecting early signs of patient deterioration at home using wearable sensors: a personalized anomaly detection approach.
Biomedical physics & engineering expressAge, sex, smoking-specific prevalence and progression in interstitial lung abnormality: patient-level meta-analysis.
Annals of the American Thoracic SocietyDynamic Cytogenetic Evolution in Multiple Myeloma: Prognostic Implications from Diagnosis to First Relapse.
The oncologistHemorrhagic presentation of a DICER-1-mutant primary intracranial sarcoma with negative MR spectroscopy: illustrative case.
Journal of neurosurgery. Case lessonsPerineural spread of colorectal carcinoma into the sciatic nerve with positive circulating tumor DNA test: illustrative case.
Journal of neurosurgery. Case lessonsTime lag between functional and structural lymphatic changes after lymphadenectomy: Insights from ICG lymphography and lymphatic ultrasound.
PloS oneA Magnetic Anomaly Inversion Method Integrating Convolutional Block Attention Module and Physical Consistency Constraints.
Journal of visualized experiments : JoVEEfficacy of Lithium Carbonate Combined with Olanzapine, Risperidone, or Quetiapine in Bipolar Disorder Treatment and Effects on Glycolipid Metabolism.
Journal of visualized experiments : JoVEN6-methyladenosine-modified miR-873 promotes receptor-interacting protein kinase 3-mediated necroptosis after intracerebral hemorrhage in mice and HT22 cells.
NeuroreportPseudo Anomalies and Hard Sample Mining for Ventricular Arrhythmia Anomaly Detection.
IEEE journal of biomedical and health informaticsEnvironmental and Lifestyle Exposures and Male Factor Subfertility Proportion Among Infertile Couples: A Clinic-Based Multicenter Cross-Sectional Analysis from Indian Male Factor Subfertility Evaluation (IM-FaST) Study.
Environmental science and pollution research internationalOPM-based fetal magnetocardiography: fetal cardiac time intervals in healthy pregnancies compared to postnatal ECGs.
Archives of gynecology and obstetricsSilent complexity: a rare combination of polysplenia, cleft palate, retroaortic renal vein, and dorsal pancreatic agenesis.
Pediatric radiologyNavigating the spectrum: a comprehensive approach to fetal lung abnormalities in ultrasound and magnetic resonance imaging.
Pediatric radiologyBehavioural and physiological impacts of varying doses of methotrexate on Drosophila melanogaster.
Naunyn-Schmiedeberg's archives of pharmacologyUpdate on Cerebral/Cortical Visual Impairment (CVI) in Children.
International ophthalmology clinicsUsing Optical Coherence Tomography in Pediatric Neuro-ophthalmology.
International ophthalmology clinicsCongenital Optic Nerve Anomalies and Associated Systemic Conditions.
International ophthalmology clinicsTailored Charles' Procedure and Vascularized Lymph Node Transfer for Advanced Stage Klippel-Trenaunay Syndrome.
Acta chirurgica BelgicaVestibular dysfunction and infratentorial MRI abnormalities in multiple sclerosis.
Irish medical journalThe endocrine impact of immunotherapy: audit and future service implications.
Irish medical journalOvarian Hormones Moderate Systolic Hypertension in Female Eln Haploinsufficient Mice.
American journal of physiology. Renal physiologyA Triboelectric Nanogenerator-Based Electromechanical Synchronized Sensing Probe for Simultaneous Detection of Cardiac Physiological Activities.
ACS sensorsFirst Generation Proteolysis Targeting Chimeras (PROTACs) for the Treatment of Progeria.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)REM Sleep Abnormalities in Children With Autism Spectrum Disorder.
Autism research : official journal of the International Society for Autism ResearchCase Report: Successful natural conception and delivery in a primary cancer survivor involving the reproductive, respiratory, and endocrine systems auth.
Frontiers in oncologyCentral Ray Synpolydactyly with Bilateral Medial Foot Polydactyly and Hydrocephalus: A Case Report.
Plastic and reconstructive surgery. Global openAssociations of triglyceride-glucose-body mass Index and C-reactive protein with isolated nocturnal hypertension: evidence from a retrospective observational study.
Frontiers in cardiovascular medicineImpact on mitral regurgitation in patients with AVB undergoing permanent pacemaker implantation: left bundle branch pacing vs. right ventricular septum pacing.
Frontiers in cardiovascular medicineA Survey on the Treatment of Extra-Articular Malunions of the Distal Radius.
Journal of wrist surgeryPeripheral Nerve Ultrasound Findings in Leprosy: A Scoping Review of Echogenicity, Cross-Sectional Area, and Vascularization Across 15 Studies.
Clinical, cosmetic and investigational dermatologyInsights on Acute and Chronic Lacquer Cracks as Imaged with Visible Light OCT.
Ophthalmology scienceUnexpected 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 clinical, serological and myopathological features of a cohort of Chinese patients with inclusion body myositis: a single center analysis.
Frontiers in immunologyIschemic Stroke as the Initial Presentation of Advanced Pancreatic Adenocarcinoma: A Case of Marantic Endocarditis.
CureusGastric Mucosal Biopsy Revealing Immunoglobulin G4 (IgG4)-Related Disease With Subtle Macroscopic Changes: A Case Report.
CureusBrown Tumor in a Patient With End-Stage Renal Disease: A Case Report of Secondary Hyperparathyroidism Complications.
CureusPerforated Meckel's Diverticulum With Dual Gastric and Pancreatic Heterotopia: A Pediatric Case Report.
CureusComplete Diphallia With Associated Epispadias: A Rare Congenital Anomaly Diagnosed in Adulthood.
CureusUnusual Case of Extensor Indicis Attachment: Cadaveric Observation and Clinical Relevance.
CureusNovel Compound Heterozygous CFAP53 Variants in a Fetus With Situs Inversus Totalis: A Case Report.
CureusThe Hidden Face of Lyme Disease: Neuroinfection With Cranial Nerve Involvement.
CureusLeft bundle branch area pacing from the functional right ventricle in Ebstein's anomaly with atrioventricular block.
HeartRhythm case reportsFetal echocardiography combined with serum biomarkers for early diagnosis of congenital heart disease and birth defect risk prediction.
American journal of translational researchTrousseau's syndrome with cerebral infarction as the first manifestation.
American journal of translational researchDiagnosis of malignant pleural effusion using thoracoscopy combined with confocal endomicroscopy: a case report.
American journal of translational researchAltered EEG microstate associated with anxiety and somatization symptoms in major depressive disorder.
Frontiers in psychiatryAn exploratory study of altered regional homogeneity in Parkinson's disease with depression.
Frontiers in psychiatryZero Fluoroscopy Ablation of Arrhythmias in Patients With Congenital Heart Disease.
Journal of arrhythmiaPressure cycling technology-assisted data-independent acquisition proteomics reveals molecular alterations and potential therapeutic targets in minor glomerular abnormalities.
Precision clinical medicineUsing Embodied Artificial Intelligence Agents to Automate Biorisk Management Tasks in High-Containment Laboratories.
Applied biosafety : journal of the American Biological Safety AssociationClinical characteristics and long-term treatment outcomes of patients with new-onset epileptic seizures associated with COVID-19 infection.
Frontiers in neurologyArterial thoracic outlet syndrome due to a first-rib anomaly causing brachial artery embolic occlusion: a case report.
Radiology case reportsPelvic pain and a missing kidney: Unveiling OHVIRA syndrome with a tubo-ovarian abscess.
Radiology case reportsPostoperative acute ultra-early fish mouthing of a Surpass Evolve flow diverter leading to ischemic complication.
Radiology case reportsIncidental Detection of Glutamate Formiminotransferase Deficiency Through Newborn Screening in a Clinically Asymptomatic Infant: Molecular Findings and Counseling Considerations.
CureusInterconnected roles of astrocytes and the blood-brain barrier in Parkinson's disease: pathological evidence, mechanistic insights, and knowledge gaps.
Frontiers in aging neuroscienceDiagnostic odyssey of a German shepherd dog with disseminated Penicillium labradoris infection: a case report.
Frontiers in veterinary scienceIncreased contributions of climate-driven wildfires to nitrogen deposition in the United States.
Communications earth & environmentComplex interactions of gut-derived short-chain fatty acids in hyperuricemia and gout pathophysiology.
Frontiers in microbiologyMachine Learning Models Reveal New Risk Factors for Sub-/Supra-Therapeutic Concentrations of Sirolimus in Children with Vascular Anomalies.
Drug design, development and therapyMidline congenital upper lip sinus: a rare clinical case with analytical review of diagnostic and therapy strategies.
Frontiers in pediatricsCase Report: Genetic testing reveals Wilson disease with familial hypertriglyceridemia in a 12-year-old boy.
Frontiers in pediatricsCase Report: Pediatric chylous ascites beyond congenital malformations-infectious causes and nutritional management with a literature review.
Frontiers in pediatricsAPOE3 astrocytes can rescue lipid abnormalities and dystrophic neurites of APOE4 human neurons.
PNAS nexusMetabolic pathways and chemotherapy resistance in acute myeloid leukemia (AML): Insights into Enoyl-CoA hydratase domain-containing protein 3 (ECHDC3) as a potential therapeutic target.
Cancer pathogenesis and therapyEarly Binding of Anti-Amyloid Antibodies to CAA Drives Complement Activation, Inflammation and ARIA in Mice.
bioRxiv : the preprint server for biologyPreclinical validation of AAV9-TECPR2 gene therapy in a novel knock-in model of TECPR2-related disorder.
bioRxiv : the preprint server for biologySuppression of early pro-inflammatory senescent signature post-radiotherapy mitigates chronic bone damage.
bioRxiv : the preprint server for biologyAssociation of Ambulatory Arterial Pressure Index with Circadian Blood Pressure Patterns in Patients with Primary Hypertension and Coronary Artery Disease.
International journal of general medicineTEM-based Study of the Phenotype of Astrocytes Differentiated from Induced Pluripotent Stem Cells from a Healthy Donor and a Patient with Parkinson's Disease.
Sovremennye tekhnologii v meditsineManaging metabolic risks in coronary artery disease: A scoping review of recent clinical and therapeutic evidence.
Journal of diabetes and metabolic disordersMolecular insights into foveal hypoplasia: development, genetics, mechanisms, and models.
Molecular visionGlobal Perspectives in Plastic Surgery: View of Plastic Surgeons From Vietnam.
Plastic and reconstructive surgery. Global openGlobal Perspectives in Plastic Surgery: View of Plastic Surgeons From Peru.
Plastic and reconstructive surgery. Global openAssociações
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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.
- Fixel-Based Analysis of Pretreatment MRI Identifies White Matter Abnormalities in Pediatric Anti-NMDAR Encephalitis.
- Registries and surveillance models used to screen neonates for congenital anomalies in LMIC settings: a scoping review.
- Neuropsychological aspects of impulse control disorders in Parkinson's disease.
- Inferior wall ST-elevation myocardial infarction in a patient with a single coronary artery from the right coronary cusp trifurcating into the left anterior descending, left circumflex, and right coronary arteries: a rare coronary anomaly, case report.
- Comprehensive assessment of the genomic stability of human induced pluripotent stem cells for clinical applications.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:284149(Orphanet)
- OMIM OMIM:614188(OMIM)
- MONDO:0013615(MONDO)
- Variantes catalogadas(ClinVar)
- Q55784239(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
