A síndrome de Say-Barber-Miller é caracterizada pela combinação de traços faciais incomuns, cabeça menor que o normal (microcefalia), atraso no desenvolvimento e um crescimento muito lento após o nascimento.
Introdução
O que você precisa saber de cara
A síndrome de Say-Barber-Miller é caracterizada pela combinação de traços faciais incomuns, cabeça menor que o normal (microcefalia), atraso no desenvolvimento e um crescimento muito lento após o nascimento.
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
+ 14 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
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 Say-Barber-Miller
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
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Pediatric COVID-19 in Korea: Lessons and Strategies for Future Disease-X Preparedness.
A experiência da Coreia com a COVID-19 em crianças revelou que, embora os casos fossem numerosos, as ocorrências graves foram raras. Para os pacientes, o sistema de saúde adaptou-se rapidamente, permitindo isolamento domiciliar para quadros leves e acompanhamento de cuidadores durante internações pediátricas, além de implementar a vacinação para crianças e adolescentes. Para médicos e planejamento futuro, o estudo enfatiza a importância de estratégias pediátricas específicas, incluindo vigilância adaptada para síndromes inflamatórias e protocolos de saúde que considerem as particularidades da faixa etária para a preparação contra futuras pandemias.
🇧🇷 traduzidoAntibiotics in the first week of life are not associated with functional gastrointestinal disorders at 9-12 years of age.
Uma pesquisa recente indica que o uso de antibióticos na primeira semana de vida não está associado a um maior risco de distúrbios gastrointestinais funcionais (DGIFs) em crianças de 9 a 12 anos, nem a história de cólica infantil. Contudo, o estudo revelou que crianças com alergia alimentar apresentam uma probabilidade significativamente maior de desenvolver distúrbios funcionais de dor abdominal (DFDAs). Portanto, pais e médicos podem ficar mais tranquilos quanto ao impacto dos antibióticos precoces no desenvolvimento de DGIFs a longo prazo, mas devem estar atentos à conexão entre alergias alimentares e dores abdominais funcionais.
🇧🇷 traduzidoTyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.
A síndrome de Say-Barber-Miller (deficiência de tirosina hidroxilase, DTH) é uma doença genética rara que causa distonia e parkinsonismo infantil devido à produção insuficiente de dopamina, com resposta variável ao tratamento com L-Dopa. Este estudo essencial revela que a redução da enzima TH em áreas cerebrais chave não se deve à degeneração neuronal, mas sim a um transporte defeituoso da proteína TH dentro das células, o que é uma notícia crucial para o prognóstico dos pacientes. Essa disfunção leva a alterações nos circuitos cerebrais, como o estriado, e desencadeia plasticidade neuronal compensatória, sem causar a morte dos neurônios.
🇧🇷 traduzidoAnaesthetic management of a paediatric patient with Goldenhar syndrome for oral rehabilitation and palatoplasty.
A Síndrome de Goldenhar apresenta desafios anestésicos significativos devido a deformidades craniofaciais e vertebrais, exigindo uma avaliação pré-operatória meticulosa e um planejamento detalhado das vias aéreas e ventilação. Um caso pediátrico de sucesso para reabilitação oral e palatoplastia demonstrou que a antecipação de vias aéreas difíceis e a ventilação personalizada são cruciais para reduzir riscos perioperatórios e garantir um bom resultado, enfatizando a importância do planejamento anestésico individualizado.
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Practical laboratory medicineAssociations Between COVID-19 Anxiety Syndrome and Pandemic Fatigue in a Post-Lockdown Context: The Roles of Community and Personal Resilience.
Psychology research and behavior managementAssociation of GLP-1 Receptor Agonist Use with Hypersomnolence: A Real-world Cohort Analysis.
Journal of diabetes and metabolic disordersEtiological Diagnosis and Disease Course of Birk-Barel Syndrome in an Adult Woman with a KCNK9 Variant.
International medical case reports journalDeciphering the genetic basis of inherited retinal dystrophies via whole-exome sequencing in a Turkish cohort.
Molecular visionAssociation of Urinary Equol Concentration with Frailty in Community-Dwelling Older Adults: The Itabashi Longitudinal Study on Aging.
Clinical interventions in agingCase Report: Maculopathy following standard dose intracameral cefuroxime injection during ICL surgery.
Frontiers in ophthalmologyOvercoming Complexity: Percutaneous Embolization for Hepatic Artery Pseudoaneurysms in Hereditary Hemorrhagic Telangiectasia (HHT).
The Indian journal of radiology & imagingCorrigendum 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 reportsCharacterizing SCN1A -Related Disorders Using Real-World Data Across 681 Patient-Years.
medRxiv : the preprint server for health sciencesAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome Say-Barber-Miller.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Síndrome Say-Barber-Miller
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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.
- Antibiotics in the first week of life are not associated with functional gastrointestinal disorders at 9-12 years of age.
- Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.
- Anaesthetic management of a paediatric patient with Goldenhar syndrome for oral rehabilitation and palatoplasty.
- Second allogeneic stem cell transplantation for XMEN disease.
- [Cerebromediastinal tuberculosis in a child with a probable Say-Barber-Miller syndrome: a causative link?].
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:3132(Orphanet)
- OMIM OMIM:251240(OMIM)
- MONDO:0009620(MONDO)
- GARD:239(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55782100(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
