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Buscar doenças, sintomas, genes...
Síndrome Say-Barber-Miller
ORPHA:3132CID-10 · Q87.8CID-11 · 4A01.0YOMIM 251240DOENÇA RARA

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.

Mantido por Agente Raras·Colaborar como especialista →

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.

Publicações científicas
1 artigos
Último publicado: 2009 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
Antenatal
+ infancy, neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.8
🇧🇷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
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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

🦴
Ossos e articulações
10 sintomas
😀
Face
9 sintomas
👁️
Olhos
6 sintomas
💪
Músculos
5 sintomas
🧠
Neurológico
5 sintomas
🧬
Pele e cabelo
3 sintomas

+ 14 sintomas em outras categorias

Características mais comuns

90%prev.
Microcefalia
Muito frequente (99-80%)
90%prev.
Formato facial anormal
Muito frequente (99-80%)
90%prev.
Hipogamaglobulinemia transitória da infância
Muito frequente (99-80%)
90%prev.
Atraso global do desenvolvimento
Muito frequente (99-80%)
55%prev.
Paniculite
Frequente (79-30%)
55%prev.
Micrognatia
Frequente (79-30%)
60sintomas
Muito frequente (4)
Frequente (20)
Ocasional (33)
Sem dados (3)

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

MicrocefaliaMicrocephaly
Muito frequente (99-80%)90%
Formato facial anormalAbnormal facial shape
Muito frequente (99-80%)90%
Hipogamaglobulinemia transitória da infânciaTransient hypogammaglobulinemia of infancy
Muito frequente (99-80%)90%
Atraso global do desenvolvimentoGlobal developmental delay
Muito frequente (99-80%)90%
PaniculitePanniculitis
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
Pico2026197 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 Say-Barber-Miller

🗺️

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 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.

🇧🇷 traduzido
#2

Antibiotics in the first week of life are not associated with functional gastrointestinal disorders at 9-12 years of age.

Journal of pediatric gastroenterology and nutrition2026 Mar 23

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.

🇧🇷 traduzido
#3

Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.

Journal of inherited metabolic disease2026 Mar

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.

🇧🇷 traduzido
#4

Anaesthetic management of a paediatric patient with Goldenhar syndrome for oral rehabilitation and palatoplasty.

BMJ case reports2026 Mar 23

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.

🇧🇷 traduzido
#5

Second allogeneic stem cell transplantation for XMEN disease.

BMJ case reports2026 Mar 23

A doença XMEN é uma imunodeficiência genética tratável com transplante de células-tronco alogênico (TCTH), uma opção curativa. Contudo, o TCTH apresenta alta mortalidade em adultos, principalmente devido a hemorragias graves causadas por disfunção plaquetária durante a aplasia pós-transplante, sendo crucial manter as plaquetas acima de 30x10^9/L. Este artigo relata o primeiro TCTH alogênico secundário bem-sucedido para XMEN, reforçando que é uma alternativa curativa válida para pacientes adultos com doadores compatíveis, apesar dos riscos.

🇧🇷 traduzido

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BDNF genetic variants modulate the impact of childhood trauma on symptom dimensions in first-episode schizophrenia.

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Lifestyle and Complementary Approaches to Polycystic Ovary Syndrome During Perimenopause and Menopause A Scoping Review.

American journal of lifestyle medicine
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Synergistic effects of combined breathing training and aerobic exercise on cardiopulmonary function in chronic heart failure: a systematic review and meta-analysis.

PeerJ
2026

Restless legs syndrome and sleep quality in children with migraine and tension-type headache.

PeerJ
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Iliofemoral Venous Occlusion Due to Previous Intravenous Drug Abuse Crossed by Sharp Recanalization Technique With Endovascular Stenting: A Case Report.

Journal of the Society for Cardiovascular Angiography &amp; Interventions
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Late reconstruction of missed compartment syndrome after tibial plateau fixation surgery: A case report with 6 years of follow-up.

Orthopedic reviews
2026

Bouveret's syndrome complicated by iatrogenic esophageal perforation after endoscopic gallstone retrieval: a case report.

Journal of surgical case reports
2026

Dyskerin dysfunction in cancer development: from telomere dysregulation to immune deficiency.

American journal of cancer research
2026

Ovarian Sertoli-Leydig cell tumors with somatic DICER1 mutations: a clinicopathologic study of 15 cases.

American journal of cancer research
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Pneumomediastinum and Subcutaneous Emphysema as Initial Presentations of Pneumocystis Jirovecii Pneumonia in a Newly Diagnosed HIV-Infected Patient: A Case Report.

Journal of acute medicine
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Clinical Characteristics and Factors Associated With Critical Illness and Mortality in Patients Hospitalized With COVID-19: A Retrospective Cohort Study in Taiwan.

Journal of acute medicine
2026

Diagnosis of Polycystic Ovary Syndrome With Predictive Modeling of Select Clinical Features.

O&amp;G open
2026

Candidate Genes for Non-Syndromic Pediatric Cataracts.

Clinical ophthalmology (Auckland, N.Z.)
2026

Lower fat-free mass is independently linked to restless legs syndrome in men: a cross-sectional PSG-BIA study.

Frontiers in neurology
2026

Arterial thoracic outlet syndrome due to a first-rib anomaly causing brachial artery embolic occlusion: a case report.

Radiology case reports
2026

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

Radiology case reports
2026

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

Cureus
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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

Epidemiology and molecular characterization of lumpy skin disease virus in cattle in the Poro Region of Ivory Coast.

Frontiers in veterinary science
2026

Development of a colloidal gold immunochromatographic strip for the rapid detection of fowl adenovirus serotype 4 using prepared penton protein-specific monoclonal antibodies.

Frontiers in veterinary science
2026

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

Frontiers in microbiology
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

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

Frontiers in medicine
2026

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
2026

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

Frontiers in medicine
2026

Electroacupuncture for the prevention of acute gastrointestinal injury in patients with sepsis undergoing mechanical ventilation (EAGISM): a protocol for an open-label randomized controlled trial.

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

Role of Sodium-Glucose Transport Protein-2 Inhibitors in Renal Protection: A Narrative Review from the Cardiovascular-Kidney-Metabolic Interconnection.

Drug design, development and therapy
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

C-reactive Protein-to-albumin Ratio (CAR) in Polytrauma-Early Warning or Marker of Disease Evolution?

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

What if the Intensive Care Unit Abandoned the Physiology Myth-The Case of "Physiological PEEP".

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

Letter in Response to the Article: Utility of Extracellular Nicotinamide Phosphoribosyl Transferase as a Novel Biomarker in Predicting Early Severe Organ Dysfunction and Mortality in Acute Respiratory Distress Syndrome: A Prospective Observational Study.

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

East Asian Mendelian-Randomization Evidence Linking PCOS to Gestational Diabetes Mellitus.

International journal of women's health
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Brucellosis Complicated by Thyroid Abscess and Life-Threatening Hemophagocytic Syndrome: A Case Report.

Infection and drug resistance
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

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

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

Treatment of glomerular and tubular proteinuria in the nephrotic range in a female cat: case report.

Brazilian journal of veterinary medicine
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

FDA-approved drug library screen identifies antidepressants, antimicrobials, anti-COPD, and anti-CVD agents as blockers of NLRP3 inflammasome and sepsis in a sex-dependent manner.

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
2026

Predictive Factors of Low HDL-C in Patients with Schizophrenia.

Neuropsychiatric disease and treatment
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
2026

Evaluation of nutritional interventions and their impact on metabolic syndrome risk markers in older adults.

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
2026

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

Blood neoplasia
2026

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

Associations Between COVID-19 Anxiety Syndrome and Pandemic Fatigue in a Post-Lockdown Context: The Roles of Community and Personal Resilience.

Psychology research and behavior management
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Association of GLP-1 Receptor Agonist Use with Hypersomnolence: A Real-world Cohort Analysis.

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

International medical case reports journal
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Deciphering the genetic basis of inherited retinal dystrophies via whole-exome sequencing in a Turkish cohort.

Molecular vision
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Association of Urinary Equol Concentration with Frailty in Community-Dwelling Older Adults: The Itabashi Longitudinal Study on Aging.

Clinical interventions in aging
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Case Report: Maculopathy following standard dose intracameral cefuroxime injection during ICL surgery.

Frontiers in ophthalmology
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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
2026

Characterizing SCN1A -Related Disorders Using Real-World Data Across 681 Patient-Years.

medRxiv : the preprint server for health sciences

Associações

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Comunidades

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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. Antibiotics in the first week of life are not associated with functional gastrointestinal disorders at 9-12 years of age.
    Journal of pediatric gastroenterology and nutrition· 2026· PMID 41872049mais citado
  3. Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.
    Journal of inherited metabolic disease· 2026· PMID 41872043mais citado
  4. Anaesthetic management of a paediatric patient with Goldenhar syndrome for oral rehabilitation and palatoplasty.
    BMJ case reports· 2026· PMID 41871901mais citado
  5. Second allogeneic stem cell transplantation for XMEN disease.
    BMJ case reports· 2026· PMID 41871900mais citado
  6. [Cerebromediastinal tuberculosis in a child with a probable Say-Barber-Miller syndrome: a causative link?].
    Rev Neurol (Paris)· 2009· PMID 19108857recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:3132(Orphanet)
  2. OMIM OMIM:251240(OMIM)
  3. MONDO:0009620(MONDO)
  4. GARD:239(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. 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

Síndrome Say-Barber-Miller
Compêndio · Raras BR

Síndrome Say-Barber-Miller

ORPHA:3132 · MONDO:0009620
Prevalência
<1 / 1 000 000
Casos
4 casos conhecidos
Herança
Unknown
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
CID-11
Início
Antenatal, Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1855078
EuropePMC
Wikidata
DiscussaoAtiva

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