Raras
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Síndrome de craniossinostose-calcificações intracranianas
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Introdução

O que você precisa saber de cara

📋

A craniossinostose, uma condição em que as suturas cranianas se fundem prematuramente e, consequentemente, alteram o formato da cabeça, é observada em diversas condições, conforme listado abaixo. O grau de envolvimento varia de acordo com a condição e pode abranger desde craniossinostose leve de sutura única até craniossinostose grave e multissutural.

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
3
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.0
🇧🇷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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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Últimos 10 anos200publicações
Pico2025105 papers
Linha do tempo
2025Hoje · 2026
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome de craniossinostose-calcificações intracranianas

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Selecione um estado ou use sua localização para ver resultados.

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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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Aberrant multicellular interferon signaling underlies Adar1 mutation-driven Aicardi-Goutières syndrome-like encephalopathy.

Cell reports2026 Mar 17

Adenosine-to-inosine RNA editing by ADAR1 prevents aberrant innate immunity activation by modifying endogenous double-stranded RNA. Mice carrying a left-handed double-stranded RNA (Z-RNA) binding-deficient mutation develop Aicardi-Goutières syndrome (AGS)-like encephalopathy, characterized by ventricular enlargement, gliosis, calcification, and white matter degeneration with a type I interferon (IFN) signature. However, the mechanisms underlying encephalopathy development remain unknown. Here, we show that pathology was most severe in periventricular regions where IFN-stimulated gene (ISG) expression was elevated and ependymal cells were lost, accompanied by higher IFN-α levels in cerebrospinal fluid than in sera. Blocking type I IFN signaling fully reversed these abnormalities, which was not achieved by deleting downstream PKR or ZBP1. Microglial elimination partially alleviated the encephalopathy without suppressing ISGs. In contrast, neuron- or astrocyte-specific ADAR1 dysfunction evoked robust ISG expression and recapitulated AGS-like encephalopathy, with astrocytic dysfunction causing particularly severe effects. These findings identify aberrant multicellular IFN signaling as the central driver of AGS-like encephalopathy.

#2

Great debate: the new risk factor-weighted clinical likelihood model is useful to estimate the initial pre-test probability of obstructive coronary artery disease in individuals with suspected chronic coronary syndromes.

European heart journal2026 Mar 13

For individuals with suspected chronic coronary syndrome, the 2024 ESC guidelines recommend use of a structured estimate of the probability of obstructive coronary artery disease (CAD). This 'risk factor-weighted clinical likelihood' (RF-CL) model is recommended as the initial step after history taking and combines age, sex, symptom characteristics, and five clinical risk factors, with coronary calcification data, if available. The resulting numerical estimate indicates an initial 'pre-test probability' of obstructive CAD, that has been calibrated to provide improved accuracy compared with previous models. It can help triage patients for appropriate testing and identify individuals with a very low likelihood of obstructive CAD, for whom deferral of further diagnostic tests should be considered. Designed to assess the likelihood of obstructive CAD, the RF-CL model is not designed to predict ischaemia, which may occur in the absence of obstructive coronary disease and could account for patient symptoms. The score is easy and quick to use, with extensive external validation in contemporary populations including European, North American, and Asian cohorts. However, some have questioned the practical application of the RF-CL tool, citing challenges with the specificity and clarity of patient symptoms, definition and weighting of risk factors, as well as the other 'enrichment factors' that can enhance the likelihood. The RF-CL model is quantitative up to 45% and then becomes semi-quantitative/qualitative. For patients considered very high likelihood, with an estimated score > 85%, invasive coronary angiography is recommended, although how this score may be reached is not entirely clear. The RF-CL model undoubtedly improves the prediction of obstructive CAD and can 'de-risk' a significant number of symptomatic patients safely, reducing unnecessary testing. In the development and application of such a probability estimate, there is a need to strike a good balance between simplicity and usefulness, vs increased sensitivity at the expense of greater complexity. Here, the two sides of this Great Debate are presented, to help the reader better evaluate the practical usefulness of the new RF-CL assessment in predicting the probability of obstructive CAD.

#3

Calcific Aortopathy in Response to Aging and Injury.

Circulation2026 Mar 10

The arterial vasculature is the second most frequently calcified structure in the human body after the skeleton. Calcification of the aorta and aortic valves occurs in most individuals in westernized societies with advancing age, with abdominal aortic calcification generally preceding ascending thoracic aortic disease. In cardiac valves and the thoracic aorta, however, calcification often arises earlier in common disease contexts characterized by metabolic, mechanical, or inflammatory injury (eg, metabolic syndrome, chronic kidney disease, irradiation). In these settings, calcification frequently involves the arterial media as a histoanatomic feature, and is associated with accelerated neurocognitive decline and increased cardiovascular mortality, reflecting a form of precocious aging. The term arteriosclerosis was coined nearly 2 centuries ago to describe the calcium-mediated hardening of the aorta and conduit arteries observed at autopsy with aging. However, much of our understanding of the causes, characterization, and consequences of aortic calcium deposition has emerged only within the past decade. Features of disease biology, including engagement of innate immunity, senescence (inflammaging), and ectopic activation of osteogenic mechanisms, are consistently revealed. In this article, we briefly review the burgeoning literature, highlighting recent advances in clinical and discovery science with translational implications. Given the current trajectory, after 2 centuries of disease recognition, the next decade of innovation promises meaningful progress toward effective medical treatments to prevent and treat the clinical consequences of calcific aortopathy.

#4

Extensive myocardial calcification following cytokine release syndrome and sepsis: a novel case report with advanced echocardiographic assessment.

European heart journal. Case reports2026 Mar

Myocardial calcification is a rare complication, typically associated with chronic myocardial injury or severe metabolic disturbances. Rapid development in the setting of cytokine release syndrome (CRS) and sepsis is exceptional and, to our knowledge, has not been previously reported. We describe a 44-year-old man with acute myeloid leukaemia who developed CRS and subsequent septic shock, requiring high-dose vasopressor support and continuous renal replacement therapy. On day 70 of hospitalization, a computed tomography scan revealed extensive intramyocardial calcification of the left ventricle. Serial transthoracic echocardiography demonstrated progressive systolic dysfunction, with global longitudinal strain deteriorating from -22% to -9%, and a markedly reduced global work index (GWI 780 mmHg%), indicating impaired intrinsic contractility. Global work efficiency (GWE 96%) remained preserved. This is the first reported case of rapidly progressive myocardial calcification associated with CRS, documented using advanced non-invasive imaging modalities such as GLS and myocardial work. These techniques enabled early detection and objective assessment of functional decline in a critically ill patient, in whom conventional diagnostic options were limited.

#5

Epilepsy and coeliac disease in children: a narrative review.

Frontiers in pediatrics2026

Neurological symptoms have been reported as extraintestinal manifestations (EIMs) in 3%-10% of children diagnosed with Coeliac disease (CD). Specifically, the prevalence of epilepsy has been reported to be approximately 1% in pediatric patients with CD, and this population shows an increased risk of developing epilepsy. However, there is still no comprehensive review of epidemiological data, seizure semiology, and electroencephalographic findings of epilepsy in pediatric patients with CD. We conducted a narrative review to provide the most recent data regarding prevalence of epilepsy in CD children, describe the typical seizure semiology reported in literature according to the recent classification of International League Against Epilepsy (ILAE) and illustrate the management of epilepsy in this specific population. Epidemiological data regarding the prevalence of epilepsy in CD children and vice versa are heterogenous due to different inclusion criteria considered in various studies. Overall, an increased risk of epileptic disorder in CD patients has been described in some studies. On the other hand, a higher risk of CD has been reported in children diagnosed with certain types of epileptic disorders [e.g., idiopathic generalized epilepsies]. In terms of seizure semiology, the majority of children with CD present with generalized tonic-clonic seizures or focal seizures, usually of temporal or occipital origin. However, few other patients may experience other types of seizures, such as typical and atypical absences. A subgroup of CD patients presenting with occipital seizures and occipital calcifications on neuroimaging can be diagnosed with CEC syndrome (CD, epilepsy and calcification). A different response to gluten free diet in terms of seizure control has been observed in CD patients. Clinicians should be aware of this possible neurological EIMs of CD in order to facilitate early recognition and refer patients for further investigations when required.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

Safety, Efficacy, and Outcomes of the Modified Rotational Atherectomy Approach: A Real-World Single-Center Experience.

Indian heart journal
2026

Safety and efficacy of a novel traction balloon technique for guide-extension advancement in complex coronary interventions: a case series.

American journal of cardiovascular disease
2026

TRANSORAL PARA-TONSILLAR ROBOTIC APPROACH FOR EAGLE SYNDROME: A TECHNICAL NOTE AND EXEMPLIFYING CASE.

Journal of stomatology, oral and maxillofacial surgery
2026

Biological, Radiological, and Clinical Significance of Spotty Calcification in Coronary Artery Disease: A State-of-the-Art Review.

JACC. Cardiovascular imaging
2026

Localized Pulmonary Amyloidosis Associated With Sjögren's Syndrome, Coexisting Lymphoid Interstitial Pneumonia, and a Severe Double Aortic Lesion: A Case Report and Literature Review.

Cureus
2026

Causal inference and mediating pathways of metabolic syndrome on calcific aortic valve stenosis: linkage disequilibrium score regression and two-sample, two-step mendelian randomization study.

Journal of cardiothoracic surgery
2026

Aberrant multicellular interferon signaling underlies Adar1 mutation-driven Aicardi-Goutières syndrome-like encephalopathy.

Cell reports
2026

Aicardi-Goutières Syndrome: Insights from a Middle Eastern Case Series.

AJNR. American journal of neuroradiology
2026

Hyposplenism in systemic lupus erythematosus: biological and radiological characteristics and its association with increased risk of infection.

RMD open
2026

Great debate: the new risk factor-weighted clinical likelihood model is useful to estimate the initial pre-test probability of obstructive coronary artery disease in individuals with suspected chronic coronary syndromes.

European heart journal
2026

"The Cancer that Carried the Chalk"-NXP2+ Paraneoplastic Dermatomyositis Unleashing Calcinosis Cutis and Peripheral Neuropathy.

The Journal of the Association of Physicians of India
2026

[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
2026

[Calcinosis cutis in a hemodialysis patient with Von Hippel-Lindau disease].

Nephrologie &amp; therapeutique
2026

Calcific Aortopathy in Response to Aging and Injury.

Circulation
2026

Unilateral port wine stain on the face: a case report and review.

Canadian journal of dental hygiene : CJDH = Journal canadien de l'hygiene dentaire : JCHD
2026

Marked regression of calcinosis with canakinumab in hyperphosphatemic familial tumoral calcinosis.

JBMR plus
2026

Extensive myocardial calcification following cytokine release syndrome and sepsis: a novel case report with advanced echocardiographic assessment.

European heart journal. Case reports
2026

Using Orbital Atherectomy in ST-Elevation Myocardial Infarction: A Case Report From a Nonsurgical Centre.

Case reports in cardiology
2026

Idiopathic multifocal calcinosis cutis presenting in a cat with vestibular syndrome: clinical, radiographic and histopathological findings.

JFMS open reports
2026

Introduction of a Brain MRI Scoring System with Clinical Relevance for Sturge-Weber Syndrome.

Academic radiology
2026

Two-Step Clinical Pathways to Cardiovascular Mortality in Chronic Kidney Disease and Dialysis -- A Narrative Review.

Journal of atherosclerosis and thrombosis
2026

Diagnostic Challenge of a Tumor-mimicking Spinal Pseudogout Lesion: Case Report and Literature Review.

Cancer diagnosis &amp; prognosis
2026

Minimally Invasive Skull Base Approach Styloidectomy for Treatment of Eagle Syndrome.

ORL; journal for oto-rhino-laryngology and its related specialties
2026

In-Stent Restenosis Pathophysiology and Risk Factors: A Comprehensive Review.

Medicina (Kaunas, Lithuania)
2026

Relationship Between Mitral Annular Calcification and Inflammatory Indices in Patients with Cardiometabolic Risk Factors.

Biomedicines
2026

Testicular regression syndrome revisited: Insights from a 15-year retrospective study and evolving perspectives on management.

Journal of pediatric urology
2026

Crowned Dens Syndrome Mimicking Atlantoaxial Infection in a Patient With Systemic Sclerosis: A Case Report.

Case reports in rheumatology
2026

Epilepsy and coeliac disease in children: a narrative review.

Frontiers in pediatrics
2026

Airway Involvement in Conradi-Hünermann-Happle Syndrome: A Novel Clinical Manifestation.

The Laryngoscope
2026

Applications of genetic testing in cardiovascular disease.

Current opinion in cardiology
2026

[Risk factor analysis of excessive resection of facet joint after large-channel spinal endoscopic depression for degenerative lumbar diseases].

Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery
2026

Erythropoietin alleviates syndrome-associated intellectual disability and autism-like behavior in Zbtb20-haploinsufficient Primrose syndrome mouse model.

JCI insight
2026

Case Report: A case of ruptured renal epithelioid angiomyolipoma leading to the diagnosis of TSC2/PKD1 contiguous gene syndrome.

Frontiers in pediatrics
2026

Update of guideline for diagnosis and treatment of subacromial pain syndrome: a multidisciplinary review by the Dutch Orthopedic Association Part 2: Operative considerations and treatment of various conditions related to subacromial pain syndrome.

Acta orthopaedica
2026

Update of guideline for diagnosis and treatment of subacromial pain syndrome: a multidisciplinary review by the Dutch Orthopedic Association Part 1: preventive measures, diagnostics, and non-surgical treatment of subacromial pain syndrome.

Acta orthopaedica
2026

[Aortobifemoral bypass surgery using aortic balloon occlusion in patients with total aortic calcification].

Khirurgiia
2026

A fast fully automated approach for evaluating calcified lesions in intravascular ultrasound.

European heart journal. Digital health
2026

Multimodal management of hormonal and oncological progression in PTHrP-secreting pancreatic neuroendocrine tumours.

Endocrine oncology (Bristol, England)
2026

[A case report of severe hypocalcemia secondary to Fahr's syndrome].

Anales del sistema sanitario de Navarra
2026

A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS).

Molecular genetics and metabolism
2026

Multimodal imaging follow-up of a left main trunk pseudoaneurysm presenting with cardiopulmonary arrest.

European heart journal. Case reports
2026

A simplified algorithm for management of CP/CPPS and associated entities: A summary table for general urologists.

Current urology
2026

T1 mapping on cardiac magnetic resonance of myocardial calcification after septic shock.

Pediatrics international : official journal of the Japan Pediatric Society
2026

Endomyocardial calcification with pulmonary and systemic hypertension in a term neonate with multisystem inflammatory syndrome of newborn (MIS-N).

BMJ case reports
2026

Coronary plaque volume quantification using coronary computed tomography angiography is associated with periprocedural myocardial injury in patients with chronic coronary syndrome.

Journal of cardiovascular computed tomography
2026

Coronary Artery Calcium Score Is Associated with Steatotic Liver Disease, Fatty Pancreas, and Benign Pancreaticobiliary Disorders, Independent of Metabolic Syndrome.

Metabolic syndrome and related disorders
2026

Cerebral Calcification and Treatment-Resistant Seizures: A Rare Syndromic Presentation of Pseudohypoparathyroidism-A Case Report.

AACE endocrinology and diabetes
2026

Fahr Syndrome, Hypoparathyroidism and Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome.

AACE endocrinology and diabetes
2025

Coronary complexity and inflammatory burden in HIV-infected patients with acute coronary syndrome: a two-year prospective cohort study in China.

Frontiers in cardiovascular medicine
2026

[Artificial intelligence in the diagnosis and management of aortic disease: current applications and future directions].

Giornale italiano di cardiologia (2006)
2025

Fahr's Syndrome Secondary to Hypoparathyroidism Presenting With Neurological and Cardiac Manifestations.

Cureus
2026

Basal Ganglia Calcification Secondary to Postsurgical Hypoparathyroidism Presenting With Seizures and Acute Confusion: A Case Report (Fahr Syndrome).

Cureus
2025

Disease-modifying effects of iron deficiency in mouse models of chronic renal failure.

Blood. Red cells &amp; iron
2026

Literature review of leukoencephalopathy with calcifications and cysts and a case report.

Frontiers in neuroscience
2026

Atypical Histopathological Findings in an Epilepsy Surgery Case of Sturge-Weber Syndrome With Coexisting Developmental Venous Anomaly.

Neuropathology : official journal of the Japanese Society of Neuropathology
2026

Chinese medicine and intermittent fasting integration therapy attenuate diabetic vascular calcification via miR21-5p/Tpm1-mediated osteogenic differentiation of VSMCs.

Acta pharmaceutica Sinica. B
2026

Clinical Approach to Medullary Thyroid Carcinoma in Pregnancy: Experience and Review of the Literature.

JCEM case reports
2026

RNF 213 positive Moyamoya angiopathy with sporadic idiopathic basal ganglia calcification: a rare association.

Acta neurologica Belgica
2026

Beyond the breast: Mammographic manifestations of systemic disease.

Current problems in diagnostic radiology
2026

Blocking Sphingosine 1-phosphate Metabolism With Fingolimod Prevents the Progression of Vascular Smooth Muscle Cells Calcification in Chronic Kidney Disease.

Journal of cellular physiology
2026

Multimodal imaging of acquired aortic diseases: clinical efficacy, comparative analysis, and future perspectives.

The international journal of cardiovascular imaging
2026

Clinical Care for Patients With Elevated Lipoprotein(a) Level in Canada: A Practical Framework for Screening, Risk Assessment, and Management.

The Canadian journal of cardiology
2026

Targeting Hypercalciuria in SLC34A1-Related Disorders: Impact of Oral Phosphate Therapy and Novel Genetic Insights in Pediatric Case Series.

Calcified tissue international
2026

Percutaneous coronary intervention employing a double drug-eluting stent sandwich strategy for a right coronary artery aneurysm with severe calcified stenosis: a case report.

BMC cardiovascular disorders
2026

Association of NXP2 autoantibodies with a more severe clinical phenotype of juvenile dermatomyositis.

Clinical and experimental rheumatology
2026

Aortoiliac and superior mesenteric artery narrowing and calcification in Singleton Merten syndrome.

Radiology case reports
2025

Basal Ganglia Calcifications for Nephrologists: Fahr/Primary Familial Brain Calcification (PFBC) at the Interface of Chronic Kidney Disease-Mineral and Bone Disorder (CKD-MBD) and Hypoparathyroidism.

Cureus
2026

Coronary CT Angiography in Acute Coronary Syndrome and Analysis of Factors That Influence This Assessment.

Kardiologiia
2025

Rare systemic artery lesions due to Kawasaki disease diagnosed in adults: a review of the literature on abdominal aortic aneurysms and renovascular hypertension.

Cardiology in the young
2026

Occipital Extracranial Dermoid Cyst in a Neonate With Cardiofaciocutaneous Syndrome Type 4 (CFC4): A Case Report.

Clinical case reports
2026

Standardized ultrasound assessment with a classification system in greater trochanteric pain syndrome: a pilot study.

Quantitative imaging in medicine and surgery
2026

Greyscale, colour Doppler and oscillometric macroangiopathy indices in patients with autoinflammatory syndromes: the INFLAMMACARD cohort.

Rheumatology (Oxford, England)
2025

Phosphate and Inflammation in Health and Kidney Disease.

International journal of molecular sciences
2025

Fatal West Nile Encephalomyelitis in a Young Woman with Hypoparathyroidism and Sjögren's Syndrome. Molecular Insights into Viral Neuro-Invasivity.

International journal of molecular sciences
2025

Bicuspid Aortic Valve: Old and Novel Gene Contribution to Disease Onset and Complications.

Diagnostics (Basel, Switzerland)
2026

Primary cortical neurons precipitate and extrude large mitochondria-associated calcium-phosphate sheets with a bone-precursor-like ultrastructure.

Molecular brain
2026

Association of Coronary Vasculitis Sequelae With Atherosclerosis in Adults With a History of Kawasaki Disease: Autopsy Pathological Findings.

Arteriosclerosis, thrombosis, and vascular biology
2026

One mutation, divergent journeys: expanding the clinical spectrum of homozygous SAMHD1 deficiency in childhood.

Rheumatology (Oxford, England)
2026

Clinical Profiles of Psoriasis Patients With Coronary Artery Calcification and Assessment of Acute Coronary Syndrome Risk Factors Using Coronary Computed Tomography Angiography-Estimated Fractional Flow Reserve.

The Journal of dermatology
2026

A Western Diet High in Phosphate Primes the Development of the CKD-Mineral Bone Disorder in an Alport Syndrome Model.

Kidney360
2025

Expanding the clinicopathological spectrum of nevoid basal cell carcinoma syndrome associated with odontogenic keratocyst in the Indian population: an institutional experience of 39 cases and review of the literature.

International journal of oral and maxillofacial surgery
2025

Atypical Calciphylaxis Following Parathyroidectomy and Persistent Severe Hypocalcemia in a Hemodialysis Patient: A Case Report.

Cureus
2025

Bilateral Cerebral Calcifications in Secondary Fahr's Syndrome.

Case reports in neurological medicine
2025

Clinical Validation of a Fast MRI Method to Evaluate Brain Vascular and Parenchymal Abnormalities in Sturge-Weber Syndrome.

Journal of magnetic resonance imaging : JMRI
2025

Unexpected Diagnosis of Fahr's Disease in a Patient with Severe Obesity and a Heterozygotic Variant in the TMEM67 Gene.

Genes
2025

Prevalence and Underreporting of Crowned Dens Syndrome-Associated Calcifications on Cervical Spine CT in Patients with Neck Pain.

Journal of clinical medicine
2025

Characterization of 843 children with Zika-related microcephaly in the first three years of life: An individual participant data meta-analysis of 12 cohorts in the Zika Brazilian Cohorts consortium.

PLOS global public health
2026

Incremental Value of Non-Gated Chest CT Coronary Artery Calcium Score in Predicting Major Adverse Cardiovascular Events by GRACE Score After Percutaneous Coronary Intervention in Patients With Acute Coronary Syndrome.

Clinical cardiology
2025

Basal Ganglia Calcifications With Acute Behavioral Changes: A Case of Fahr's Syndrome.

Cureus
2026

Role of endothelial shear stress metrics in the development and eruption of coronary calcified nodules.

International journal of cardiology
2025

A Vexing Diagnosis: ENT Presentation of Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) Syndrome.

Cureus
2025

Beyond Traditional Risk Factors: Inflammation, Asymmetric Dimethylarginine, and N-Terminal pro-B-Type Natriuretic Peptide Predict Cardiovascular Risk in Chronic Kidney Disease.

Cureus
2026

Repurposing osteoporosis medications for other diseases: a narrative review by the European Calcified Tissue Society (ECTS).

Bone
2025

Demographic and clinicopathological analysis of odontogenic keratocyst: A retrospective study.

The Malaysian journal of pathology
2025

Fahr syndrome associated with hypoparathyroidism: Case report.

Medicine
2025

When teeth and kidneys fail together: a case series of amelogenesis imperfecta-renal syndromes in childhood.

The Pan African medical journal
2025

Constrictive Pericarditis with Caseous Necrosis: A Rare and Underrecognized Presentation.

Arquivos brasileiros de cardiologia
2025

[Crowned Dens Syndrome Mimicking Acute Meningitis in an Elderly Patient].

Revista medica de Chile
2026

Fahr's syndrome: Evaluation of bilateral basal ganglia and calcifications in other brain regions: A report of 3 cases.

Radiology case reports
2025

Exploring the association between insulin resistance and diffuse idiopathic skeletal hyperostosis: a cross-sectional observational study.

The spine journal : official journal of the North American Spine Society
2025

Type 1 Bartter syndrome presenting as primary diabetes insipidus: a rare Case Report with 8-year follow-up.

Frontiers in genetics
2026

Periarticular Soft Tissue Disorders: Enthesopathies, Tendinopathies, and Bursitis-Pathophysiology and Radiotherapeutic Approaches.

Seminars in radiation oncology
2025

Intravascular lithotripsy with or without rotational atherectomy for coronary calcific nodule treatment.

Cardiovascular revascularization medicine : including molecular interventions
2026

A Novel Biallelic STN1 Mutation Is Associated With Adult-Onset Multisystemic Involvement: Broadening the Mutational Spectrum in Coats Plus Syndrome.

Clinical genetics
2026

Lipid Metabolism Alterations in Hereditary Inorganic Pyrophosphate Deficiency Syndromes: A Narrative Review of Insights and Controversies.

Journal of inherited metabolic disease
2025

Diagnosing Dysphagia in Forestier Syndrome: A Dynamic Digital Radiology Application.

Diagnostics (Basel, Switzerland)
2025

Anatomical vs Physiological Lesion Characteristics in Prediction of Acute Coronary Syndrome.

JACC. Cardiovascular interventions
2026

Characterizing Paratesticular Neoplasms in Proteus Syndrome.

The American journal of surgical pathology
2025

Posterior scleritis in an 18-year-old female with primary familial brain calcification syndrome: Incidental finding or association?

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society
2025

Type 3 Sturge-Weber Syndrome Presenting With Concurrent Epilepsy and Migraine.

Cureus
2026

Stent-Free PCI With OCT-Guided Drug-Coated Balloon Angioplasty for Calcified Coronary Stenosis After Kawasaki Disease.

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography &amp; Interventions
2025

Evaluation of individual and composite CT-based markers in frailty diagnostics in older patients with cancer undergoing major abdominal surgery.

BMC geriatrics
2026

Tuberculosis Effusive-Constrictive Pericarditis.

JACC. Case reports
2025

Severe cardiac valvular calcification in two Chinese brothers with mandibuloacral dysplasia type A: a case report.

Frontiers in cardiovascular medicine
2025

Not Just a Birthmark: A Case Report of a Subtle Port-Wine Stain Heralding Sturge-Weber Syndrome.

Cureus
2025

Calcified mass attached to mitral valve chordae tendineae in a dog with hyperadrenocorticism: A case report.

BMC veterinary research
2025

Malnutrition and sarcopenia: a combined risk factor for vascular calcification and cardiovascular events in hemodialysis patients.

Frontiers in nutrition
2025

Echoes of Scleroderma: A Case Report Unmasking CREST (Calcinosis, Raynaud's Phenomenon, Oesophageal Dysmotility, Sclerodactyly, and Telangiectasia) Syndrome With Point-of-Care Ultrasound in Acute Medicine.

Cureus
2025

Longitudinal Neuroimaging of a Pediatric Patient With Sturge-Weber Syndrome: From Birth to Adolescence.

Cureus
2025

Basal Ganglia Calcification With Treatment-Resistant Hypocalcaemia and Persistent Psychosis in an 18-Year-Old: A Case Report.

Cureus
2025

Silent stone: Idiopathic presentation of Fahr's disease.

SAGE open medical case reports
2025

Pseudohypoparathyroidism Presenting With Recurrent Twitching: Challenges Making a Diagnosis in a Low-Resource Environment.

Case reports in endocrinology
2026

Efficacy and safety of SGLT2 inhibitor on insulin resistance and hyperglycemia in Werner syndrome-A case report.

Journal of diabetes investigation
2025

Coronary Artery Calcium Score Is Associated with Acute Pancreatitis Independent of Metabolic Syndrome.

Metabolic syndrome and related disorders
2025

Leukoencephalopathy, brain calcifications, and cysts (LCC): Two unique cases.

Rare (Amsterdam, Netherlands)
2025

Birt-Hogg-Dubé: CT characteristics of renal tumors in a rare syndrome.

Abdominal radiology (New York)
2025

Adipokines and Vascular Modulators in CKM: Emerging Biomarkers as Diagnostic and Therapeutic Targets.

International journal of molecular sciences
2026

Is there histological evidence supporting capsulectomy in patients with breast implant illness: A case-control study.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2026

Elevated cardiovascular risk in people with HIV: the association with coronary artery calcification and endothelial dysfunction.

AIDS (London, England)
2025

Diagnostic accuracy of panoramic radiography in detecting styloid process elongation: a cone-beam computed tomography referenced retrospective study.

BMC oral health
2026

Clinical and Molecular Study of a Gorlin Syndrome Type 1 Case.

Advances in experimental medicine and biology
2025

Crowned dens syndrome combined with cervical disc herniation: A case report and literature review.

Medicine
2025

Predictive Models for Stylohyoid Complex Elongation: A Multivariate Statistical Analysis with Evidence-Based Diagnostic Criteria.

Journal of clinical and experimental dentistry
2025

FAM20C and FAM20A in normal and ectopic mineralization: A focus on oro-renal syndromes.

Matrix biology : journal of the International Society for Matrix Biology
2026

Chronic interferon-alpha overexpression induces white matter damage and neurovascular abnormalities in a mouse model of Aicardi-Goutières syndrome.

Experimental neurology
2025

Expanding the Phenotype Spectrum of β-Mannosidosis.

Neurology. Genetics
2025

Predictive value of plaque features quantified by coronary CT angiography for periprocedural myocardial infarction in Non-ST-Segment elevation acute coronary syndrome.

The international journal of cardiovascular imaging
2026

Myocardial calcification revealed by postmortem computed tomography in a case of infantile myocardial ischemia caused by anomalous origin of the left coronary artery from the pulmonary artery.

Legal medicine (Tokyo, Japan)
2025

Managing Dialysis-Associated Haemodynamic Instability in Critical Calcific Left Main Stem Disease With Tachycardia-Bradycardia Syndrome Using Intravascular Lithotripsy-Assisted Percutaneous Coronary Intervention and Permanent Pacemaker Implantation.

Cureus
2025

The Heart's Small Molecules: The Importance of MicroRNAs in Cardiovascular Health.

Journal of clinical medicine
2026

Association of albumin with coronary plaque characteristics in patients with acute coronary syndrome: An optical coherence tomography study.

Heart &amp; lung : the journal of critical care
2025

Imaging Features of Amyloid of the Breast: Review of 94 Cases From the Literature and 6 New Cases.

Journal of breast imaging
2025

Predictors of long-term atrial fibrillation following percutaneous coronary intervention in acute coronary syndrome.

Scientific reports
2025

USP18 gene mutation associated with recurrent encephalopathy, intracranial calcification, and microcephaly: case report, long-term follow-up, and literature review.

Clinical dysmorphology
2025

Total Pancreatectomy and Islet Autotransplantation for Chronic Pancreatitis Relieves Pain and Mitigates Diabetes Development.

WMJ : official publication of the State Medical Society of Wisconsin
2025

Upper extremity deep vein thrombosis associated with systemic lupus erythematosus and antiphospholipid syndrome.

Journal of general and family medicine
2025

Operationalizing vascular frailty: structural and functional vascular ageing as determinants of geriatric phenotypes.

Journal of the Formosan Medical Association = Taiwan yi zhi
2025

Eagle syndrome as a rare cause of recurrent neck pain: a case report.

Archives of craniofacial surgery
2025

Treatment of Refractory Pruritic Dermatitis in the Setting of Primary Biliary Cholangitis and CREST Syndrome With Upadacitinib.

Journal of drugs in dermatology : JDD
2025

Calcinosis Cutis in Triple Overlap Syndrome.

Deutsches Arzteblatt international
2026

Basal ganglia calcifications and hypocalcemic seizure in an adolescent with late-diagnosed DiGeorge syndrome.

Pediatrics and neonatology
2025

Spontaneous Cervical Epidural Hematoma Mimicking Crowned Dens Syndrome: A Case Report.

Cureus
2025

Managing anticoagulation in a patient with Calciphylaxis and mechanical valve: a therapeutic dilemma.

Oxford medical case reports
2026

FLCN-mutated eosinophilic renal tumors: clinicopathologic and molecular analysis of five cases highlighting morphologic heterogeneity.

Virchows Archiv : an international journal of pathology
2025

Hypercalcemia of Down Syndrome.

JCEM case reports
2025

Adult-Onset Neurological Deterioration in Dravet Syndrome Associated With a Novel SCN1A Missense Variant (p.Gly1371Asp): A Case Report.

Cureus
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The role of calcium serum level in clinical manifestation and progress of psoriasis vulgaris in a patient with Fahr's syndrome.

Dermatology reports
2025

Immune mechanisms in chronic kidney disease-mineral and bone disorder: current insights and therapeutic implications.

Frontiers in medicine
2026

Diagnostic yield of referring patients for invasive coronary angiography primarily based on high CAC scores: Positive predictive value for obstructive coronary artery disease in a consecutive real-life cohort.

International journal of cardiology
2025

Beyond the leptomeningeal angioma: a comprehensive review of MR imaging features of Sturge-Weber Syndrome, from early vascular responses to tissue necrosis.

Pediatric radiology
2026

Clinical and Technical Predictors of Adverse Cardiovascular Events Following Coronary Lithotripsy in the BENELUX-IVL Registry.

The American journal of cardiology
2025

ST-elevation myocardial infarction caused by plaque erosion in a 23-year-old male.

Journal of cardiology cases
2025

Implications of computed tomography reconstruction algorithms on coronary atheroma composition: A head-to-head comparison with multimodality near-infrared spectroscopy intravascular ultrasound imaging.

Journal of cardiovascular computed tomography
2025

[Aicardi-Goutières syndrome with atypical presentation: RNASEH2B gene mutation in an infant without microcephaly or intracranial calcifications (a case report)].

The Pan African medical journal
2025

Gardner Fibroma Presenting as a Suspected Encephalocele: A Case Report and Literature Review.

Cureus
2025

Clinical Outcomes Following Percutaneous Coronary Intervention With Drug-Eluting Stents and Drug-Coated Balloons in Lesion With Eruptive Calcified Nodules.

The American journal of cardiology
2025

Idiopathic Sclerochoroidal Calcification With a Concurrent COL11A2 Variant: A Case Report.

Cureus
2025

Variable response of germline activating PDGFRB variants to receptor tyrosine kinase inhibitors: implications for treatment.

European journal of human genetics : EJHG
2025

Have no fear, IR is here: A case of right brachiocephalic vein /svc recanalization for port placement.

Radiology case reports
2025

Associations between systemic inflammation response index and abdominal aortic calcification: a cross-sectional study.

Scientific reports
2025

Calcified Nodules: Pathology, Mechanisms, and Clinical Challenges.

Current cardiology reports
2025

Breathe easy, baby, breathe. Lung ultrasound in neonatal critical care.

Frontiers in pediatrics
2025

Calcific Changes in an End-Stage Kidney following Long-Term Dialysis, Tertiary Hyperparathyroidism, and Treatment for Complement-Mediated Thrombotic Microangiopathy: A Case Report.

Glomerular diseases
2025

From exposure to neurotoxicity induced by micro-nanoplastics with brain accumulation and cognitive decline.

Ecotoxicology and environmental safety
2025

Acute Occlusion of Right Coronary Artery During Transcatheter Aortic Valve Replacement of a Bicuspid Valve.

JACC. Case reports
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"RotaTripsy" as State-of-the-Art Strategy for Coronary Artery Calcification: A Scoping Review.

Cardiovascular therapeutics
2025

Clinical spectrum of cervical involvement in calcium pyrophosphate deposition disease.

ARP rheumatology
2025

Diagnostic Challenges in Fahr's Disease: A Rare Case of Extensive Basal Ganglia Calcifications.

Cureus
2025

Ultrasound-Guided Prolotherapy for Sciatica Secondary to Sacrospinous Ligament Calcification: A Potential and Previously Overlooked Etiological Factor in Deep Gluteal Syndrome-A Case Report and Literature Review.

Life (Basel, Switzerland)
2025

Calcium Hides the Clue: Unraveling the Diagnostic Value of Coronary Calcium Scoring in Cardiac Arrest Survivors.

Journal of personalized medicine
2025

Pulmonary calcified nodules and cysts as the initial presentation of Sjögren's syndrome secondary nodular pulmonary amyloidosis: a rare case report.

BMC pulmonary medicine
2025

Confirmation bias in medical referrals: an unusual presentation of pain at the base of the skull.

BMJ case reports
2025

Association between different insulin resistance surrogates and severe abdominal aortic calcification: A cross‑sectional study.

Medicine
2025

Adult-onset asymmetric pallido-pyramidal syndrome due to hereditary diffuse leukoencephalopathy with spheroids.

Parkinsonism &amp; related disorders
2025

Intravascular Large B-Cell Lymphoma Presenting as Systemic Capillary Leak Syndrome With Immunological Phenomena: A Case Report.

Case reports in hematology
2025

Adolescent-onset primary brain calcification: a case report presenting with neuropsychiatric symptoms.

Neurocase
2026

Plaque fissure and calcified nodule: histopathological findings.

European heart journal
2025

Effect of metabolic syndrome on coronary artery atherosclerotic plaque in type 2 diabetes mellitus patients.

Frontiers in endocrinology
2025

Beyond Glycemic Control: Glucagon-Like Peptide-1 Receptor Agonists as Potential Modifiers of Aortic Disease.

Cardiology in review
2025

Pearls & Oy-sters: Adult-Onset Coats Plus: A Case of Leukoencephalopathy With Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease.

Neurology
2026

Stone, paper… seizure? A case report of hypocalcemic seizures worsened by anti-seizure medications.

The American journal of emergency medicine
2025

USP18 Deficiency Presenting as Severe Neonatal Encephalopathy: A Case Report and Review of Pseudo-TORCH Syndromes.

Cureus
2025

Seizures and hypoparathyroidism post-thyroidectomy: Fahr's syndrome.

BMJ case reports
2025

Entheseal structural damage according to OMERACT definitions unveils distinct ultrasound phenotypes in SpA: findings from the DEUS multicentre study.

Seminars in arthritis and rheumatism
2025

Significance of aortic arch calcification as a cardiovascular risk marker: analysis of a cohort of hospitalized patients in internal medicine.

Revista clinica espanola
2025

Fuelling aortic stenosis: the integral role of 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3-mediated glycolysis in Lp(a)-induced valve inflammation.

European heart journal open
2025

Interplay between endocrine disorders and liver dysfunction: Mechanisms of damage and therapeutic approaches.

World journal of gastroenterology
2025

Pseudohypoparathyroidism type 1B mimicking gitelman syndrome: diagnostic pitfalls and molecular insights.

Frontiers in genetics
2025

Surgical Aortic Valve Replacement Combined With Coronary Artery Bypass Grafting in a Patient With Progeria.

JACC. Case reports
2025

OCT-Based Morphological Classification of Healed Coronary Plaques: Insights from Imaging of Fresh Thrombi at Different Stages of Healing and Implications for Post-Stenting Edge Dissections.

Medicina (Kaunas, Lithuania)

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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.

  1. Aberrant multicellular interferon signaling underlies Adar1 mutation-driven Aicardi-Gouti&#xe8;res syndrome-like encephalopathy.
    Cell reports· 2026· PMID 41855203mais citado
  2. Great debate: the new risk factor-weighted clinical likelihood model is useful to estimate the initial pre-test probability of obstructive coronary artery disease in individuals with suspected chronic coronary syndromes.
    European heart journal· 2026· PMID 41823519mais citado
  3. Calcific Aortopathy in Response to Aging and Injury.
    Circulation· 2026· PMID 41802024mais citado
  4. Extensive myocardial calcification following cytokine release syndrome and sepsis: a novel case report with advanced echocardiographic assessment.
    European heart journal. Case reports· 2026· PMID 41798601mais citado
  5. Epilepsy and coeliac disease in children: a narrative review.
    Frontiers in pediatrics· 2026· PMID 41737235mais citado
  6. [Crowned Dens Syndrome Mimicking Acute Meningitis in an Elderly Patient].
    Rev Med Chil· 2025· PMID 41405637recente
  7. Crowned dens syndrome combined with cervical disc herniation: A case report and literature review.
    Medicine (Baltimore)· 2025· PMID 41261598recente
  8. Painful Os Peroneum Syndrome: An Unusual Diagnosis.
    Kurume Med J· 2025· PMID 40518310recente
  9. [Clinical phenotype and genotype analysis of neuroinflammation, autoinflammation, splenomegaly and anemia syndrome caused by IRAK4 gene variant].
    Zhonghua Er Ke Za Zhi· 2025· PMID 40468499recente
  10. Generation of iPSCs line from patient with Singleton-Merten syndrome.
    Hum Cell· 2025· PMID 40106038recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:52054(Orphanet)
  2. MONDO:0012035(MONDO)
  3. GARD:16653(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55783579(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

Síndrome de craniossinostose-calcificações intracranianas
Compêndio · Raras BR

Síndrome de craniossinostose-calcificações intracranianas

ORPHA:52054 · MONDO:0012035
Prevalência
<1 / 1 000 000
Casos
3 casos conhecidos
Herança
Autosomal recessive
CID-10
Q87.0 · Síndromes com malformações congênitas afetando predominantemente o aspecto da face
OMIM
608432
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1842058
Wikidata
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