Raras
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Síndrome de convulsões-escoliose-macrocefalia
ORPHA:466926CID-10 · E77.8OMIM 616682DOENÇA RARA

A síndrome convulsiva-escoliose-macrocefalia é um distúrbio neurometabólico genético raro, caracterizado por convulsões, macrocefalia, atraso nos marcos motores, deficiência intelectual moderada, escoliose sem exostoses, hipotonia muscular presente desde o nascimento, bem como disfunção renal. Características faciais grosseiras (incluindo hipertelorismo e filtro hipoplásico longo) e criptorquidia bilateral (em homens) também são comumente relatadas. Manifestações adicionais incluem motilidade gastrointestinal anormal (resultando em constipação, diarréia, refluxo gastroesofágico e disfagia), distúrbios da marcha, estrabismo e defeitos do septo ventricular.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A síndrome convulsiva-escoliose-macrocefalia é um distúrbio neurometabólico genético raro, caracterizado por convulsões, macrocefalia, atraso nos marcos motores, deficiência intelectual moderada, escoliose sem exostoses, hipotonia muscular presente desde o nascimento, bem como disfunção renal. Características faciais grosseiras (incluindo hipertelorismo e filtro hipoplásico longo) e criptorquidia bilateral (em homens) também são comumente relatadas. Manifestações adicionais incluem motilidade gastrointestinal anormal (resultando em constipação, diarréia, refluxo gastroesofágico e disfagia), distúrbios da marcha, estrabismo e defeitos do septo ventricular.

Publicações científicas
2 artigos
Último publicado: 2019 Jan

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
10
pacientes catalogados
Início
Infancy
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: E77.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (6)
0202010279
Dosagem de aminoácidos (erros inatos)metabolic_test
0202010295
Dosagem de ácidos orgânicos na urinagenetic_test
0202010490
Teste de triagem para erros inatos do metabolismonewborn_screening
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202080013
Teste do pezinho (triagem neonatal)
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

🧠
Neurológico
11 sintomas
😀
Face
8 sintomas
🫃
Digestivo
6 sintomas
🦴
Ossos e articulações
6 sintomas
❤️
Coração
3 sintomas
🧬
Pele e cabelo
3 sintomas

+ 16 sintomas em outras categorias

Características mais comuns

100%prev.
Escoliose
Frequente (79-30%)
100%prev.
Deficiência intelectual, moderada
Frequente (79-30%)
100%prev.
Hipotonia
Frequente (79-30%)
100%prev.
Macrocefalia
Frequente (79-30%)
100%prev.
Convulsão
Muito frequente (99-80%)
100%prev.
Criptorquidia
Frequente (79-30%)
60sintomas
Muito frequente (8)
Frequente (22)
Ocasional (16)
Muito raro (1)
Sem dados (13)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 60 características clínicas mais associadas, ordenadas por frequência.

EscolioseScoliosis
Frequente (79-30%)100%
Deficiência intelectual, moderadaIntellectual disability, moderate
Frequente (79-30%)100%
HipotoniaHypotonia
Frequente (79-30%)100%
MacrocefaliaMacrocephaly
Frequente (79-30%)100%
ConvulsãoSeizure
Muito frequente (99-80%)100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico2PubMed
Últimos 10 anos200publicações
Pico2026196 papers
Linha do tempo
2026Hoje · 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

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.

EXT2Exostosin-2Disease-causing germline mutation(s) (loss of function) inTolerante
FUNÇÃO

Glycosyltransferase forming with EXT1 the heterodimeric heparan sulfate polymerase which catalyzes the elongation of the heparan sulfate glycan backbone (PubMed:22660413, PubMed:36402845, PubMed:36593275). Glycan backbone extension consists in the alternating transfer of (1->4)-beta-D-GlcA and (1->4)-alpha-D-GlcNAc residues from their respective UDP-sugar donors. Both EXT1 and EXT2 are required for the full activity of the polymerase since EXT1 bears the N-acetylglucosaminyl-proteoglycan 4-beta-

LOCALIZAÇÃO

Golgi apparatus membraneGolgi apparatus, cis-Golgi network membraneEndoplasmic reticulum membraneSecreted

VIAS BIOLÓGICAS (2)
HS-GAG biosynthesisDefective EXT1 causes exostoses 1, TRPS2 and CHDS
MECANISMO DE DOENÇA

Hereditary multiple exostoses 2

EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
101.7 TPM
Útero
68.9 TPM
Cervix Endocervix
62.0 TPM
Aorta
59.6 TPM
Cervix Ectocervix
58.9 TPM
OUTRAS DOENÇAS (4)
seizures-scoliosis-macrocephaly syndromeexostoses, multiple, type 2Potocki-Shaffer syndromehereditary multiple osteochondromas
HGNC:3513UniProt:Q93063

Variantes genéticas (ClinVar)

301 variantes patogênicas registradas no ClinVar.

🧬 EXT2: NM_207122.2(EXT2):c.1908del (p.Asn637fs) ()
🧬 EXT2: NM_207122.2(EXT2):c.263_291del (p.His88fs) ()
🧬 EXT2: NM_207122.2(EXT2):c.672dup (p.Gly225fs) ()
🧬 EXT2: NM_207122.2(EXT2):c.918del (p.Phe306fs) ()
🧬 EXT2: NM_207122.2(EXT2):c.441del (p.Asn148fs) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 64 variantes classificadas pelo ClinVar.

10
54
Patogênica (15.6%)
VUS (84.4%)
VARIANTES MAIS SIGNIFICATIVAS
EXT2: NM_207122.2(EXT2):c.940-2A>T [Pathogenic/Likely pathogenic]
EXT2: NM_207122.2(EXT2):c.340dup (p.Tyr114fs) [Pathogenic]
EXT2: NM_207122.2(EXT2):c.760C>T (p.Leu254Phe) [Conflicting classifications of pathogenicity]
EXT2: NM_207122.2(EXT2):c.1171C>G (p.Gln391Glu) [Uncertain significance]
EXT2: NM_207122.2(EXT2):c.1049T>G (p.Leu350Trp) [Uncertain significance]

Vias biológicas (Reactome)

3 vias biológicas associadas aos genes desta condição.

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 convulsões-escoliose-macrocefalia

🗺️

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

Lessons From the Coronavirus Disease 2019 Pandemic: Implications for Antimicrobial Stewardship for COVID-19 Management.

Journal of Korean medical science2026 Mar 23

O artigo destaca que a pandemia de COVID-19 levou a um uso excessivo e frequentemente desnecessário de antibióticos, mesmo com baixas taxas de coinfecção bacteriana, o que exacerbou a ameaça da resistência antimicrobiana. Para pacientes e médicos, é crucial implementar estratégias como o uso direcionado de antibióticos guiado por testes diagnósticos, o reforço na prevenção de infecções e a vacinação contra a COVID-19, pois estas medidas reduzem o uso desnecessário de antimicrobianos e combatem a resistência.

🇧🇷 traduzido
#2

Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.

Nature communications2026 Mar 23

**Atenção:** O título fornecido ("Seizures-scoliosis-macrocephaly syndrome") não corresponde ao conteúdo do resumo, que é claramente sobre a **Síndrome de Alport**. Assumindo que o resumo fornecido é o que você quer que eu resuma: Este estudo aprofundou o conhecimento sobre as causas genéticas da Síndrome de Alport, conseguindo identificar as mutações em mais de 90% dos pacientes, incluindo muitas variantes genéticas novas. Para pacientes e médicos, isso significa que abordagens de sequenciamento genético mais avançadas são cruciais para diagnosticar casos complexos que testes padrão podem não detectar, como variantes não-codificantes ou estruturais. Este avanço melhora significativamente a capacidade de diagnóstico preciso da síndrome de Alport.

🇧🇷 traduzido
#3

A WHO global research priority agenda for wasting and nutritional oedema in infants and children under 5 years.

BMJ global health2026 Mar 23

A Organização Mundial da Saúde (OMS) estabeleceu uma agenda global de prioridades de pesquisa para a desnutrição grave (emaciação e edema nutricional) em crianças menores de 5 anos. Este plano, focado em lacunas de evidência cruciais, direcionará futuros estudos para otimizar a prevenção e o tratamento, priorizando a eficácia e a entrega de intervenções diretamente relevantes para melhorar a prática médica e os resultados para os pacientes. **Observação:** O artigo científico que você forneceu para resumo (sobre uma agenda de pesquisa da OMS para desnutrição infantil) não corresponde ao título "Seizures-scoliosis-macrocephaly syndrome" mencionado na sua solicitação inicial. O resumo acima se baseia no conteúdo do artigo sobre desnutrição.

🇧🇷 traduzido
#4

Neuroblastoma-associated opsoclonus-myoclonus-ataxia syndrome: an important yet overlooked diagnosis in pediatric ataxia.

The Turkish journal of pediatrics2026 Feb 27

Este artigo foca na Síndrome de Opsoclonus-Mioclonus-Ataxia (OMAS) associada a neuroblastoma em crianças, uma doença neurológica rara e autoimune. Para pais e médicos, é crucial estar atento a sintomas como ataxia (descoordenação), distúrbios comportamentais e do sono, que são os mais comuns e podem indicar a síndrome. O opsoclonus, um movimento ocular característico, pode não estar presente inicialmente ou ser confundido com nistagmo, dificultando o diagnóstico e a identificação precoce do neuroblastoma subjacente, que é essencial para o tratamento.

🇧🇷 traduzido
#5

Cost-utility and budget impact analyses of significant fibrosis detection in individuals with metabolic syndrome or obesity in Thailand.

PloS one2026

Este estudo avaliou a custo-efetividade da triagem para fibrose hepática avançada em adultos tailandeses com síndrome metabólica ou obesidade. Para síndrome metabólica, a combinação do índice FIB-4 seguido por elastografia transitória (TE) foi a única estratégia custo-efetiva, enquanto para obesidade, todas as estratégias testadas (incluindo apenas TE) se mostraram custo-efetivas. Embora o rastreamento tenha benefícios potenciais, a implementação em larga escala exigirá um equilíbrio entre os ganhos de saúde esperados e o impacto orçamentário considerável, o que é crucial para médicos e formuladores de políticas na tomada de decisões.

🇧🇷 traduzido

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Advances in basic research on post-cardiac arrest syndrome in adults: a comprehensive review.

Frontiers in medicine
2026

Case Report: A rare but critical complication in patients with lumbar infection combined with cauda equina syndrome-sacrococcygeal pressure sores.

Frontiers in medicine
2026

C-reactive Protein/Albumin Ratio in Septic Polytrauma: Predictive Marker or Concurrent Indicator?

Indian journal of critical care medicine : peer-reviewed, official publication of Indian Society of Critical Care Medicine
2026

Comparison of craniofacial skeletal morphology in pediatric obstructive sleep apnea-hypopnea syndrome patients with class II and class III malocclusions: a retrospective cross-sectional study.

Frontiers in pediatrics
2026

Case Report: Long-term follow-up of a schoolboy with Gitelman syndrome and epilepsy-causation or coincidence?

Frontiers in pediatrics
2026

Etiology and longitudinal kidney outcomes in children with nephrocalcinosis: a retrospective cohort study.

Frontiers in pediatrics
2026

The quality of life of parents of children with disabilities in Saudi Arabia: a systematic review.

Frontiers in pediatrics
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

A Nonlinear Association Between Gamma-Glutamyltransferase to High-Density Lipoprotein Cholesterol Ratio and Arterial Stiffness in Japanese Population: A Secondary Analysis Based on a Cross-Sectional Study.

Vascular health and risk management
2026

G-quadruplexes regulate chromatin accessibility and gene expression in Bloom Syndrome.

bioRxiv : the preprint server for biology
2026

Physiologic variation in sperm miRNAs tune embryonic gene regulatory programs and developmental outcomes.

bioRxiv : the preprint server for biology
2026

Systems Pharmacology and Multi-Omics Reveal Synergistic Antidepressant Mechanisms of Radix Bupleurum-Radix Paeoniae Alba via Oxidative Stress, Neuroimmune Balance, and Circadian Rhythm.

Neuropsychiatric disease and treatment
2026

Edible bird's nest ameliorates hyperandrogenism and gonadotropin imbalance in a rat model of polycystic ovary syndrome.

Frontiers in nutrition
2025

Increased Risk of Melanoma and Basal Cell Carcinoma in Patients with Sjogren's Syndrome: A Nested Case-Control Study.

Archives of dermatological research
2026

Advocating the potential of artificial intelligence for syndrome discovery in syndromic surveillance systems: A scoping review.

iScience
2026

Impact of age on outcomes after CD19 CAR T-cell therapy for large B-cell lymphomas.

Blood neoplasia
2025

Genetic variants through exome sequencing in Spanish patients affected by primary congenital glaucoma and juvenile open-angle glaucoma.

Molecular vision
2025

Genetic phenotypic characteristics and inheritance patterns of patients with achromatopsia at a large academic institution and a review of the literature and gene therapies.

Molecular vision
2026

Revisiting the Intracranial Neurological Imaging Manifestations of Human Immunodeficiency Virus: Pictorial Review with a Pattern-Based Approach.

The Indian journal of radiology &amp; imaging
2026

Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.

medRxiv : the preprint server for health sciences
2026

Exploring the latest emerging drugs for the treatment of sickle cell disease.

Expert opinion on emerging drugs
2026

Pindolol Mitigates Cancer Cachexia by Modulating Inflammation, Lipolysis, and Muscle Atrophy.

Journal of biochemical and molecular toxicology
2026

Glucagon-like peptide agonists and use in short bowel syndrome - what about the side effects?

Current opinion in gastroenterology
2026

Low or Low-Normal Insulin-Like Growth Factor 1 After Traumatic Brain Injury: Interpretation and Implications.

Journal of neurotrauma
2026

No Significant Impact of Preoperative Electrodiagnostic Testing on Short-Term Outcomes after Carpal Tunnel Release.

The journal of hand surgery Asian-Pacific volume
2025

Expert Opinion on the Efficacy and Safety of Antispasmodics with a Focus on Irritable Bowel Syndrome.

The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology
2026

Predicting mortality with machine learning & biomarkers: A cohort analysis from aerosolized β₂-agonist for treatment of acute lung injury (ALTA) trial.

Physiological reports
2026

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult-Onset Acute Myeloid Leukemia.

American journal of medical genetics. Part A
2026

Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review.

Molecular genetics &amp; genomic medicine
2026

Recent Advances of Non-Nucleoside Polymerase Inhibitors With Broad-Spectrum Antiviral Activities.

Medicinal research reviews
2026

Thorough QT Study on the Effect of Therapeutic and Supratherapeutic Dosing of Givinostat in Healthy Volunteers.

Clinical pharmacology in drug development
2026

Primary cardiac angiosarcoma with isolated superior vena cava syndrome: a case report.

Journal of medical case reports
2026

Posterior reversible encephalopathy syndrome in a bilateral lung transplant recipient with subtherapeutic tacrolimus levels: a case report.

Journal of medical case reports
2026

Effective Connectivity Identifies Divergent Cerebro-Cerebellar Network Organization in Schizophrenia.

Cerebellum (London, England)
2026

Aortic dissection during the perinatal period in women with Marfan-related disorders: a retrospective cohort study using the Japanese Diagnosis Procedure Combination database.

The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2026

[A case of left ventricular apical hypoplasia].

Zhonghua xin xue guan bing za zhi
2026

Factors predicting STI-positive cervicitis and pelvic inflammatory disease, and implications on antibiotic use: a cross-sectional analysis.

Sexual health
2026

Educational attainment among primary school children with neurodisability: a population-based cohort study using linked education and health data from England.

Archives of disease in childhood
2026

How has genetics changed the diagnosis and care of multiple endocrine neoplasia type 2? The merits and pitfalls of a genetic-based diagnostic and therapeutic approach.

Annales d'endocrinologie
2026

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

Journal of stomatology, oral and maxillofacial surgery
2026

Thiamine pyrophosphate suppresses platelet activation by modulating PI3K-Akt and MAPK pathways: An integrated network pharmacology and experimental study.

Life sciences
2026

Acute Urinary Retention as a Complication of Sacral Herpes Zoster.

The American journal of medicine
2026

Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) in Schizophrenia: A Systematic Review and Meta-analysis.

Journal of the Academy of Consultation-Liaison Psychiatry
2026

Longitudinal Subphenotyping of Acute Respiratory Distress Syndrome: Implications in Prognostic Prediction and Clinical Intervention.

Respirology (Carlton, Vic.)
2026

Bidirectional association between irritable bowel syndrome and depression among probands and unaffected siblings: A nationwide population-based study.

General hospital psychiatry
2026

The Chinese medicine monomer Schisandrin C inhibits PRRSV infection by regulating the OGT-PI3K/AKT/mTOR signaling pathway.

Veterinary microbiology
2026

Impact of autoimmune comorbidity on inflammatory activity and disability accumulation in multiple sclerosis.

Multiple sclerosis and related disorders
2026

Phenylephrine attenuates LPS-induced lung injury via Foxh1/GSK-3β/β-catenin-mediated alveolar epithelial cell differentiation in ARDS.

International immunopharmacology
2026

A decade of change in delirium management: Temporal trends in psychotropic recommendations in a tertiary care hospital.

Journal of psychosomatic research
2026

Implementation of a best practice advisory alert for inpatient frailty screening and intervention: A pilot quality improvement program.

The Journal of frailty &amp; aging
2026

Longitudinal norms of frailty measured by the frailty index: A cross-national comparison using data from the survey of health, aging, and retirement in Europe (SHARE).

The Journal of frailty &amp; aging
2026

In vivo evolution of antibody CR3022 expands cross-neutralization of SARS-CoV-2 variants and informs pan-sarbecovirus immunity.

Cell reports
2026

Neuropathological measures of increased tau phosphorylation across the Down syndrome lifespan.

Acta neuropathologica
2026

Effect of PET-MPs exposure on the toxicology of PCOS: a multi-platform computational toxicology investigation.

Molecular diversity
2026

Therapeutic Plasma Exchange for Uncontrollable Bleeding After Platelet Inhibition with Ticagrelor: A Report of 2 Cases.

The American journal of case reports
2026

Association of Total Small Bowel Length with Glycaemic Control and Metabolic Syndrome in Metabolic and Bariatric Surgery Patients: A Cross-Sectional Study in a Taiwanese Cohort.

Obesity surgery
2026

The prevalence of fibromyalgia syndrome in individuals with obstructive sleep apnea syndrome and the impact of continuous positive airway pressure treatment on fibromyalgia symptoms.

Sleep &amp; breathing = Schlaf &amp; Atmung
2026

Acute food protein-induced enterocolitis syndrome in Switzerland: a 10-year retrospective review.

European journal of pediatrics
2026

Relationship between body weight and daytime sleepiness in patients with untreated OSA: The role of hypoventilation due to obesity.

Sleep &amp; breathing = Schlaf &amp; Atmung
2026

Design and Validation of a Hand Interossei Muscle Dynamometer (HIMDNA) for Finger Abduction and Adduction Strength Measurement.

Annals of biomedical engineering
2026

AGEX: a comprehensive database of clinically relevant genetic variants associated with Alagille syndrome across diverse populations.

Hepatology international
2026

Atorvastatin reduces recurrent decompensation events in advanced cirrhosis in a randomized placebo-controlled trial.

Scientific reports
2026

Prevalence and associated factors of pseudoexfoliation syndrome among cataract patients attending comprehensive specialized hospitals in Northwest Ethiopia.

Scientific reports
2026

Urine microscopy can identify cholemic nephropathy as a distinct form of kidney dysfunction in patients with acute on chronic liver failure.

Scientific reports
2026

Exploring the knowledge and attitudes of nursing students regarding protection from Polycystic Ovary Syndrome (PCOS): a cross-sectional study.

BMC nursing
2026

A Standardized workflow for Orthohantavirus production, detection, and antiviral screening.

Virology journal
2026

A diagnostic challenge: right-sided infective endocarditis presenting as isolated fatigue in a psychiatric patient.

International journal of emergency medicine
2026

Tetrahedral framework nucleic acid delivery of emodin enables precision antibacterial and anti-inflammatory therapy for drug-resistant Staphylococcus aureus.

Journal of nanobiotechnology
2026

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

Journal of clinical lipidology
2026

Empowerment Intervention in Female Patients With Fibromyalgia Syndrome: A Randomized Controlled Trial.

Pain management nursing : official journal of the American Society of Pain Management Nurses
2026

Reversible cerebral lesions in adult STEC-associated hemolytic uremic syndrome.

Kidney international
2026

Sodium-glucose transporter 2 inhibition in acute takotsubo syndrome: An appealing hypothesis.

International journal of cardiology
2026

Surreptitious Glucocorticoid-Containing Supplements Causing Severe Adrenal Insufficiency in Hospitalized Patients.

Mayo Clinic proceedings
2026

Impact of Post-Transplant Cyclophosphamide on the Prognostic Value of HCT-CI.

Transplantation and cellular therapy
2026

Aerosolized adenoviral IL4/IL10 delivery alleviates LPS-induced acute lung injury.

European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences
2026

Daneman Syndrome Revisited.

The Journal of pediatrics
2026

Retrospective study of photodynamic therapy for the GNA-Related Capillary Malformation spectrum of pediatric patients.

Photodiagnosis and photodynamic therapy
2026

Joint effects of cardiometabolic index and remnant cholesterol on cardiovascular disease in cardiovascular-kidney-metabolic syndrome stages 0-3: a nationwide cohort study.

Experimental gerontology
2026

KDM1A pathogenic variants link epigenetic regulation to GIP-dependent Primary Bilateral Macronodular Adrenal Hyperplasia.

Annales d'endocrinologie
2026

Genotype-phenotype correlation and challenges in mutation detection in McCune-Albright syndrome: a retrospective study of a French cohort.

Annales d'endocrinologie
2026

Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes.

American journal of human genetics
2026

Biomarkers in Traumatic Lung Injury - A Systematic Review.

The Journal of surgical research
2026

Safety of vaginal estrogen in breast cancer survivors: Current evidence on systemic absorption and oncologic outcomes.

Maturitas
2026

Nonlinear association between triglyceride-glucose frailty index and new-onset stroke in adults at cardiovascular-kidney-metabolic syndrome stages 0-3: a CHARLS cohort study.

Maturitas
2026

Gray matter volume associations with clinical outcomes in epilepsy: A regional cohort study.

Epilepsy research
2026

Multifactorial anticholinergic toxicity-like presentation and malignant parkinsonism in Perry syndrome.

Parkinsonism &amp; related disorders
2026

A gated pathway for suspected urinary tract infection in dementia.

Diagnostic microbiology and infectious disease
2026

Interhemispheric CA1 projections to the subiculum support spatial cognition and are affected in a mouse model of the 22q11.2 deletion syndrome.

Cell reports
2026

Standard work tools for managing pediatric baclofen pump infections and withdrawal.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2026

B cell depletion with rituximab in children with steroid-sensitive nephrotic syndrome: does depletion duration change outcome?

Pediatric nephrology (Berlin, Germany)
2026

Pulmonary Hypertension in Pediatric Patients with Noonan Syndrome Undergoing Cardiac Catheterization.

Pediatric cardiology
2026

Effectiveness of pelvic floor rehabilitation in the prevention and treatment of postoperative bowel symptoms in patients with rectal cancer: a systematic review and meta-analysis of randomized controlled trials.

Journal of cancer survivorship : research and practice
2026

Beyond anti-SSA and anti-SSB. The clinical significance of new antibodies in the diagnosis of Sjögren disease.

Rheumatology international
2026

Tuberculosis before and during COVID-19 Pandemic, United States, 2010-2023.

Emerging infectious diseases
2026

Mapping the Interplay Between Childhood Trauma, Substance Use, and Psychopathology in Early Psychosis: A Network Analysis Approach.

Schizophrenia bulletin
2026

Short-, Medium-, and Long-Term Cardiometabolic Outcomes in First-Episode Psychosis: A Systematic Review and Meta-analysis.

Schizophrenia bulletin
2026

Symptom Network Dynamics during Antipsychotic Treatment in First-Episode Psychosis.

Schizophrenia bulletin
2026

Gaming Disorder in First Episode Psychosis: Prevalence and Impact on Symptomatology and Functioning in a Prospective Cohort Study.

Schizophrenia bulletin
2026

Recent Advances in Guillain-Barré Syndrome: Neurological Disorder, Pathophysiology, Diagnosis, Treatment, and Challenges.

Current neuropharmacology

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Síndrome de convulsões-escoliose-macrocefalia.

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Síndrome de convulsões-escoliose-macrocefalia

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

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. Lessons From the Coronavirus Disease 2019 Pandemic: Implications for Antimicrobial Stewardship for COVID-19 Management.
    Journal of Korean medical science· 2026· PMID 41873444mais citado
  2. Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.
    Nature communications· 2026· PMID 41872207mais citado
  3. A WHO global research priority agenda for wasting and nutritional oedema in infants and children under 5 years.
    BMJ global health· 2026· PMID 41871869mais citado
  4. Neuroblastoma-associated opsoclonus-myoclonus-ataxia syndrome: an important yet overlooked diagnosis in pediatric ataxia.
    The Turkish journal of pediatrics· 2026· PMID 41871563mais citado
  5. Cost-utility and budget impact analyses of significant fibrosis detection in individuals with metabolic syndrome or obesity in Thailand.
    PloS one· 2026· PMID 41871114mais citado
  6. Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype.
    Clin Genet· 2019· PMID 30288735recente
  7. Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses.
    J Med Genet· 2015· PMID 26246518recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:466926(Orphanet)
  2. OMIM OMIM:616682(OMIM)
  3. MONDO:0014731(MONDO)
  4. GARD:17836(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q55784965(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 convulsões-escoliose-macrocefalia
Compêndio · Raras BR

Síndrome de convulsões-escoliose-macrocefalia

ORPHA:466926 · MONDO:0014731
Prevalência
<1 / 1 000 000
Casos
10 casos conhecidos
Herança
Autosomal recessive
CID-10
E77.8 · Outros distúrbios do metabolismo de glicoproteínas
Início
Infancy
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C4225248
Repurposing
21 candidatos
beclamideanticonvulsant
carbamazepinecarboxamide antiepileptic
eslicarbazepine-acetatesodium channel blocker
+17 outros
Wikidata
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