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.
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.
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
+ 16 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 60 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.
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-
Golgi apparatus membraneGolgi apparatus, cis-Golgi network membraneEndoplasmic reticulum membraneSecreted
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.
Variantes genéticas (ClinVar)
301 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 64 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
3 vias biológicas associadas 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 — 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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Scientific reportsUrine microscopy can identify cholemic nephropathy as a distinct form of kidney dysfunction in patients with acute on chronic liver failure.
Scientific reportsExploring the knowledge and attitudes of nursing students regarding protection from Polycystic Ovary Syndrome (PCOS): a cross-sectional study.
BMC nursingA Standardized workflow for Orthohantavirus production, detection, and antiviral screening.
Virology journalA diagnostic challenge: right-sided infective endocarditis presenting as isolated fatigue in a psychiatric patient.
International journal of emergency medicineTetrahedral framework nucleic acid delivery of emodin enables precision antibacterial and anti-inflammatory therapy for drug-resistant Staphylococcus aureus.
Journal of nanobiotechnologyLong-term prognostic value of apolipoprotein Β levels in patients with very premature (≤40 years) acute coronary syndrome.
Journal of clinical lipidologyEmpowerment Intervention in Female Patients With Fibromyalgia Syndrome: A Randomized Controlled Trial.
Pain management nursing : official journal of the American Society of Pain Management NursesReversible cerebral lesions in adult STEC-associated hemolytic uremic syndrome.
Kidney internationalSodium-glucose transporter 2 inhibition in acute takotsubo syndrome: An appealing hypothesis.
International journal of cardiologySurreptitious Glucocorticoid-Containing Supplements Causing Severe Adrenal Insufficiency in Hospitalized Patients.
Mayo Clinic proceedingsImpact of Post-Transplant Cyclophosphamide on the Prognostic Value of HCT-CI.
Transplantation and cellular therapyAerosolized adenoviral IL4/IL10 delivery alleviates LPS-induced acute lung injury.
European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical SciencesDaneman Syndrome Revisited.
The Journal of pediatricsRetrospective study of photodynamic therapy for the GNA-Related Capillary Malformation spectrum of pediatric patients.
Photodiagnosis and photodynamic therapyJoint effects of cardiometabolic index and remnant cholesterol on cardiovascular disease in cardiovascular-kidney-metabolic syndrome stages 0-3: a nationwide cohort study.
Experimental gerontologyKDM1A pathogenic variants link epigenetic regulation to GIP-dependent Primary Bilateral Macronodular Adrenal Hyperplasia.
Annales d'endocrinologieGenotype-phenotype correlation and challenges in mutation detection in McCune-Albright syndrome: a retrospective study of a French cohort.
Annales d'endocrinologieBi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes.
American journal of human geneticsBiomarkers in Traumatic Lung Injury - A Systematic Review.
The Journal of surgical researchSafety of vaginal estrogen in breast cancer survivors: Current evidence on systemic absorption and oncologic outcomes.
MaturitasNonlinear association between triglyceride-glucose frailty index and new-onset stroke in adults at cardiovascular-kidney-metabolic syndrome stages 0-3: a CHARLS cohort study.
MaturitasGray matter volume associations with clinical outcomes in epilepsy: A regional cohort study.
Epilepsy researchMultifactorial anticholinergic toxicity-like presentation and malignant parkinsonism in Perry syndrome.
Parkinsonism & related disordersA gated pathway for suspected urinary tract infection in dementia.
Diagnostic microbiology and infectious diseaseInterhemispheric CA1 projections to the subiculum support spatial cognition and are affected in a mouse model of the 22q11.2 deletion syndrome.
Cell reportsStandard work tools for managing pediatric baclofen pump infections and withdrawal.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryB cell depletion with rituximab in children with steroid-sensitive nephrotic syndrome: does depletion duration change outcome?
Pediatric nephrology (Berlin, Germany)Pulmonary Hypertension in Pediatric Patients with Noonan Syndrome Undergoing Cardiac Catheterization.
Pediatric cardiologyEffectiveness 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 practiceBeyond anti-SSA and anti-SSB. The clinical significance of new antibodies in the diagnosis of Sjögren disease.
Rheumatology internationalTuberculosis before and during COVID-19 Pandemic, United States, 2010-2023.
Emerging infectious diseasesMapping the Interplay Between Childhood Trauma, Substance Use, and Psychopathology in Early Psychosis: A Network Analysis Approach.
Schizophrenia bulletinShort-, Medium-, and Long-Term Cardiometabolic Outcomes in First-Episode Psychosis: A Systematic Review and Meta-analysis.
Schizophrenia bulletinSymptom Network Dynamics during Antipsychotic Treatment in First-Episode Psychosis.
Schizophrenia bulletinGaming Disorder in First Episode Psychosis: Prevalence and Impact on Symptomatology and Functioning in a Prospective Cohort Study.
Schizophrenia bulletinRecent Advances in Guillain-Barré Syndrome: Neurological Disorder, Pathophysiology, Diagnosis, Treatment, and Challenges.
Current neuropharmacologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Lessons From the Coronavirus Disease 2019 Pandemic: Implications for Antimicrobial Stewardship for COVID-19 Management.
- Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.
- A WHO global research priority agenda for wasting and nutritional oedema in infants and children under 5 years.
- Neuroblastoma-associated opsoclonus-myoclonus-ataxia syndrome: an important yet overlooked diagnosis in pediatric ataxia.
- Cost-utility and budget impact analyses of significant fibrosis detection in individuals with metabolic syndrome or obesity in Thailand.
- Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype.
- Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:466926(Orphanet)
- OMIM OMIM:616682(OMIM)
- MONDO:0014731(MONDO)
- GARD:17836(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- 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
