Raras
Buscar doenças, sintomas, genes...
Síndrome de cegueira-escoliose-aracnodactilia
ORPHA:171844CID-10 · Q87.5CID-11 · LD28.YOMIM 612445DOENÇA RARA

Esta síndrome combina perda progressiva da visão com curvaturas na coluna (escoliose ou cifoescoliose) e dedos longos e finos nas mãos e nos pés.

Mantido por Agente Raras·Colaborar como especialista →

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.

Publicações científicas
1 artigos
Último publicado: 2015 Nov-Dec

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
4
pacientes catalogados
Início
Adolescent
+ childhood
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.5
🇧🇷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
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

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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

👁️
Olhos
6 sintomas
🦴
Ossos e articulações
2 sintomas

+ 3 sintomas em outras categorias

Características mais comuns

90%prev.
Perda visual
Muito frequente (99-80%)
90%prev.
Cegueira
Muito frequente (99-80%)
90%prev.
Aracnodactilia
Muito frequente (99-80%)
90%prev.
Escoliose
Muito frequente (99-80%)
55%prev.
Esotropia
Frequente (79-30%)
55%prev.
Anormalidade da pigmentação retiniana
Frequente (79-30%)
11sintomas
Muito frequente (4)
Frequente (7)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 11 características clínicas mais associadas, ordenadas por frequência.

Perda visualVisual loss
Muito frequente (99-80%)90%
CegueiraBlindness
Muito frequente (99-80%)90%
AracnodactiliaArachnodactyly
Muito frequente (99-80%)90%
EscolioseScoliosis
Muito frequente (99-80%)90%
Esotropia
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico1PubMed
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

🧬

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 cegueira-escoliose-aracnodactilia

🗺️

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.

🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Pediatric COVID-19 in Korea: Lessons and Strategies for Future Disease-X Preparedness.

Journal of Korean medical science2026 Mar 23

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.

🇧🇷 traduzido
#2

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

Journal of Korean medical science2026 Mar 23

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.

🇧🇷 traduzido
#3

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

Nature communications2026 Mar 23

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.

🇧🇷 traduzido
#4

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) 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.

🇧🇷 traduzido
#5

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

The Turkish journal of pediatrics2026 Feb 27

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.

🇧🇷 traduzido

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Pelvic pain and a missing kidney: Unveiling OHVIRA syndrome with a tubo-ovarian abscess.

Radiology case reports
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The Hidden Perils of Allopurinol: A Systematic Review of Allopurinol-Induced DRESS (Drug Reaction With Eosinophilia and Systemic Symptoms) Syndrome.

Cureus
2026

Implantable cardioverter-defibrillator utilization in coronary artery spasm: A case series of cardiac arrest survivors and a patient with typical angiography.

American heart journal plus : cardiology research and practice
2026

Prospective Evaluation of Postoperative SIRS and Serum Inflammatory Indices in Percutaneous Nephrolithotomy Patients.

Therapeutics and clinical risk management
2026

The applicability of pig oral fluid in laboratory diagnostics of porcine reproductive and respiratory syndrome and its effectiveness in controlled exposure of gilts.

Frontiers in veterinary science
2026

Secondary fungal infections in severe acute viral diseases: clinical features and underlying immune mechanisms.

Frontiers in microbiology
2026

Ultrasound-Guided Atelocollagen Injection for Chronic Pain After Spinal Surgery: A Retrospective Cohort Study.

Journal of pain research
2026

Spectrum of Movement Disorders in Hematological Malignancies: A Comprehensive Systematic Review of Clinical Phenotypes, Mechanisms, and Outcomes.

Tremor and other hyperkinetic movements (New York, N.Y.)
2026

Multidimensional Phenotyping of Orthostatic Tremor and Orthostatic Myoclonus: Baseline Findings from a Longitudinal Clinical Study.

Tremor and other hyperkinetic movements (New York, N.Y.)
2026

Bilateral ovarian steroid cell tumor in a postmenopausal woman with progressive hyperandrogenism.

JCEM case reports
2026

Nursing interventions and multidomain physiological trajectories in ARDS: a retrospective cohort study.

Frontiers in medicine
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Development and validation of a prediction model for refeeding syndrome in ICU patients receiving mechanical ventilation and enteral nutrition support: a single-center retrospective study from China.

Frontiers in medicine
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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

Diagnostic and Prognostic Value of Presepsin in Sepsis: A Prospective Observational Study.

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

Role of Growth Hormone and Insulin-Like Growth Factor-1 in Modulating Disease Severity in Children with COVID-19 and Multisystem Inflammatory Syndrome.

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

bioRxiv : the preprint server for biology
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Physiologic variation in sperm miRNAs tune embryonic gene regulatory programs and developmental outcomes.

bioRxiv : the preprint server for biology
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MUTYH cancer-associated variants within the interdomain connector differentially impact glycosylase activity and cellular DNA repair.

bioRxiv : the preprint server for biology
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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
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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

A Clinical Data-Based Nomogram Prediction Model for ARDS in Patients With Acute Pancreatitis.

International journal of general medicine
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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
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A professional training simulator for skill acquisition in ultrasound-guided lumbar facet syndrome intervention: design and educational evaluation.

Frontiers in digital health
2026

A complete blood count-based machine learning model for rapid differentiation of aplastic anemia, immune thrombocytopenia, and myelodysplastic syndromes in routine clinical practice.

Practical laboratory medicine
2026

Etiological Diagnosis and Disease Course of Birk-Barel Syndrome in an Adult Woman with a KCNK9 Variant.

International medical case reports journal
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

Overcoming Complexity: Percutaneous Embolization for Hepatic Artery Pseudoaneurysms in Hereditary Hemorrhagic Telangiectasia (HHT).

The Indian journal of radiology &amp; imaging
2026

Corrigendum to "Smooth muscle cell (SMC) Specific SNRK deletion in mouse causes congenital short bowel syndrome and premature death" [Biochem. Biophys. Rep. 44 (2025) 102298].

Biochemistry and biophysics reports
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Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.

medRxiv : the preprint server for health sciences
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Active Surveillance for Heartland virus in North Carolina: Clinical and Genomic Epidemiology.

medRxiv : the preprint server for health sciences
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Case Report: Spontaneous Tumor Lysis Syndrome in a Patient With Cholangiocarcinoma.

Journal of investigative medicine high impact case reports
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Exploring the latest emerging drugs for the treatment of sickle cell disease.

Expert opinion on emerging drugs
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Pindolol Mitigates Cancer Cachexia by Modulating Inflammation, Lipolysis, and Muscle Atrophy.

Journal of biochemical and molecular toxicology
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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
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No Significant Impact of Preoperative Electrodiagnostic Testing on Short-Term Outcomes after Carpal Tunnel Release.

The journal of hand surgery Asian-Pacific volume
2026

Craniospinal cerebrospinal fluid volume changes after extreme bilateral frontotemporoparietal craniectomy and cranioplasty: a volumetric magnetic resonance imaging case report.

Croatian medical journal
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Effects of craniectomy on cerebrospinal fluid pressure gradient in the craniospinal space in different body positions of cats.

Croatian medical journal
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
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A 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 A
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

Setting PEEP in patients with COVID-19-related ARDS: a physiological comparison between methods.

Intensive care medicine experimental
2026

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

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

Journal of medical case reports

Associações

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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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. Pediatric COVID-19 in Korea: Lessons and Strategies for Future Disease-X Preparedness.
    Journal of Korean medical science· 2026· PMID 41873445mais citado
  2. Lessons From the Coronavirus Disease 2019 Pandemic: Implications for Antimicrobial Stewardship for COVID-19 Management.
    Journal of Korean medical science· 2026· PMID 41873444mais citado
  3. Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.
    Nature communications· 2026· PMID 41872207mais citado
  4. 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
  5. Neuroblastoma-associated opsoclonus-myoclonus-ataxia syndrome: an important yet overlooked diagnosis in pediatric ataxia.
    The Turkish journal of pediatrics· 2026· PMID 41871563mais citado
  6. Autozygosity in a Turkish family with scoliosis, blindness, and arachnodactyly syndrome.
    Ann Saudi Med· 2015· PMID 26657231recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:171844(Orphanet)
  2. OMIM OMIM:612445(OMIM)
  3. MONDO:0012907(MONDO)
  4. GARD:17070(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. 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

Síndrome de cegueira-escoliose-aracnodactilia
Compêndio · Raras BR

Síndrome de cegueira-escoliose-aracnodactilia

ORPHA:171844 · MONDO:0012907
Prevalência
<1 / 1 000 000
Casos
4 casos conhecidos
Herança
Autosomal dominant
CID-10
Q87.5 · Outras síndromes com malformações congênitas com outras alterações do esqueleto
CID-11
Início
Adolescent, Childhood
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C2676234
Wikidata
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