Esta síndrome combina perda progressiva da visão com curvaturas na coluna (escoliose ou cifoescoliose) e dedos longos e finos nas mãos e nos pés.
Introdução
O que você precisa saber de cara
Esta síndrome combina perda progressiva da visão com curvaturas na coluna (escoliose ou cifoescoliose) e dedos longos e finos nas mãos e nos pés.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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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
+ 3 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 11 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
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
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 cegueira-escoliose-aracnodactilia
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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.
Publicações mais relevantes
Pediatric COVID-19 in Korea: Lessons and Strategies for Future Disease-X Preparedness.
A experiência da Coreia do Sul com a COVID-19 pediátrica oferece lições valiosas para futuras pandemias. Para pacientes, mostrou que, apesar do alto número de casos infantis, as complicações graves foram raras, e o sistema de saúde adaptou-se permitindo isolamento domiciliar para casos leves e acompanhamento de cuidadores em hospitais. Para médicos, destacou a importância de estratégias pediátricas específicas: vigilância adaptada (ex: para síndromes inflamatórias), protocolos de atendimento infantil amigáveis e comunicação eficaz para aceitação da vacina.
🇧🇷 traduzidoLessons From the Coronavirus Disease 2019 Pandemic: Implications for Antimicrobial Stewardship for COVID-19 Management.
A pandemia de COVID-19 exacerbou significativamente a ameaça da resistência antimicrobiana (AMR), principalmente devido ao uso generalizado e, muitas vezes, desnecessário de antibióticos no início da pandemia, apesar das baixas taxas de co-infecção bacteriana, especialmente em casos graves e UTIs. Para pacientes e médicos, o artigo enfatiza a urgência de fortalecer o gerenciamento de antimicrobianos (AMS), focando em diagnósticos precisos para diferenciar infecções virais de bacterianas e em intervenções direcionadas para reduzir o uso indevido de antibióticos. A vacinação contra a COVID-19 também se mostra uma estratégia crucial, pois ao diminuir a incidência de doenças graves e infecções bacterianas secundárias, indiretamente contribui para reduzir o uso de antimicrobianos e frear a AMR.
🇧🇷 traduzidoSequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.
Este estudo sobre a Síndrome de Alport, uma doença renal hereditária, utilizou múltiplas técnicas avançadas de sequenciamento genético em um grande grupo de pacientes, identificando mutações em mais de 90% dos casos. É importante para pacientes e médicos porque revelou muitas variantes genéticas novas e, crucialmente, variantes que testes genéticos padrão não detectam, como as não-codificantes e estruturais. Isso significa um avanço significativo para um diagnóstico genético mais preciso e completo da Síndrome de Alport e de outras doenças hereditárias, permitindo um melhor entendimento e manejo da condição.
🇧🇷 traduzidoA WHO global research priority agenda for wasting and nutritional oedema in infants and children under 5 years.
A Organização Mundial da Saúde (OMS) identificou grandes lacunas nas evidências científicas para suas diretrizes de prevenção e manejo da desnutrição aguda (wasting) e edema nutricional em crianças. Em resposta, foi desenvolvida uma agenda global de pesquisa prioritária, focada em encontrar as melhores formas de entregar e avaliar a eficácia de intervenções para diferentes grupos de crianças, desde bebês até os 5 anos de idade, e na prevenção. O objetivo é orientar futuros estudos para abordar questões cruciais, garantindo que médicos e pacientes tenham acesso a métodos mais eficazes e baseados em evidências para combater essas condições.
🇧🇷 traduzidoNeuroblastoma-associated opsoclonus-myoclonus-ataxia syndrome: an important yet overlooked diagnosis in pediatric ataxia.
Este artigo descreve a síndrome de Opsoclonus-Mioclonus-Ataxia (OMAS), uma condição neurológica rara e imunomediada em crianças, frequentemente associada ao neuroblastoma e que pode ser subdiagnosticada. Para pais, sintomas como ataxia (descoordenação), alterações de comportamento ou sono em crianças pequenas (18-36 meses) devem servir de alerta, sendo importante saber que o opsoclonus (movimentos oculares rápidos) pode ser mal interpretado inicialmente. Médicos devem considerar ativamente o diagnóstico de OMAS em casos de ataxia pediátrica e investigar a presença de neuroblastoma, dada a importância da ligação entre as condições para um manejo adequado.
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The Turkish journal of gastroenterology : the official journal of Turkish Society of GastroenterologyPredicting mortality with machine learning & biomarkers: A cohort analysis from aerosolized β₂-agonist for treatment of acute lung injury (ALTA) trial.
Physiological reportsA New Patient With SPOUT1-Related Neurodevelopmental Disorder Identified by Genomic Data Re-Analysis: Novel Phenotypic Features and Literature Review.
American journal of medical genetics. Part AComplex 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 AReporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review.
Molecular genetics & genomic medicineRecent Advances of Non-Nucleoside Polymerase Inhibitors With Broad-Spectrum Antiviral Activities.
Medicinal research reviewsThorough QT Study on the Effect of Therapeutic and Supratherapeutic Dosing of Givinostat in Healthy Volunteers.
Clinical pharmacology in drug developmentSetting PEEP in patients with COVID-19-related ARDS: a physiological comparison between methods.
Intensive care medicine experimentalPrimary cardiac angiosarcoma with isolated superior vena cava syndrome: a case report.
Journal of medical case reportsPosterior reversible encephalopathy syndrome in a bilateral lung transplant recipient with subtherapeutic tacrolimus levels: a case report.
Journal of medical case reportsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome de cegueira-escoliose-aracnodactilia.
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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 cegueira-escoliose-aracnodactilia
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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.
- Pediatric COVID-19 in Korea: Lessons and Strategies for Future Disease-X Preparedness.
- 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.
- Autozygosity in a Turkish family with scoliosis, blindness, and arachnodactyly syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:171844(Orphanet)
- OMIM OMIM:612445(OMIM)
- MONDO:0012907(MONDO)
- GARD:17070(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55783902(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
