Uma síndrome caracterizada por atraso no desenvolvimento, deficiência intelectual, alterações na face e nos dentes, e subdesenvolvimento do cerebelo. É causada por mutações em ambas as cópias do gene BRF1, localizado no cromossomo 14q32.
Introdução
O que você precisa saber de cara
Uma síndrome caracterizada por atraso no desenvolvimento, deficiência intelectual, alterações na face e nos dentes, e subdesenvolvimento do cerebelo. É causada por mutações em ambas as cópias do gene BRF1, localizado no cromossomo 14q32.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 20 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 67 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.
General activator of RNA polymerase which utilizes different TFIIIB complexes at structurally distinct promoters. The isoform 1 is involved in the transcription of tRNA, adenovirus VA1, 7SL and 5S RNA. Isoform 2 is required for transcription of the U6 promoter
Nucleus
Cerebellofaciodental syndrome
An autosomal recessive disorder characterized by cerebellar hypoplasia, delayed development and intellectual disability, as well as facial dysmorphic features, short stature, microcephaly, and dental anomalies.
Variantes genéticas (ClinVar)
96 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 15 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 cerebeloso-facial-dentária
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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
Ensaios em destaque
🟢 Recrutando agora
2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
0 ensaios clínicos encontrados.
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Current heart failure reportsArgon laser demarcation of AIDS-related cytomegalovirus retinitis in resource-limited setting.
International ophthalmologyParadoxical Expression of Ionotropic Glutamate Receptors in Leucocytes.
Clinical reviews in allergy & immunologyAn evaluation of axatilimab for the treatment of chronic graft-versus-host disease.
Expert opinion on biological therapyIntravenous non-specific immunoglobulins as adjunctive therapy for invasive Streptococcus pyogenes infection: an eleven-year retrospective study.
Revista espanola de quimioterapia : publicacion oficial de la Sociedad Espanola de QuimioterapiaModified Delphi Consensus Guidelines for Pelvic Floor Botulinum Toxin Injection.
Urogynecology (Philadelphia, Pa.)Danon Disease Diagnosed by Multimodal Imaging.
JACC. Case reportsRecurrent Transient Cortical Blindness After Bilateral Carotid Artery Stenting.
JACC. Case reportsWomen with chronic pelvic pain can be stratified using multimodal assessment.
PainLRP4-Related Lethal Syndromic Form of Syndactyly in Limousin Cattle.
Animal geneticsContinuous Versus Bolus Terlipressin for Acute Oesophageal Variceal Bleeding and Hepatorenal Syndrome in Cirrhosis: Meta-Analysis.
Liver international : official journal of the International Association for the Study of the LiverDelayed fatal neurotoxicity in post CAR-T cell therapy for multiple myeloma, a case report.
Leukemia research reportsQTc measurement using Apple Watch electrocardiogram in congenital long QT syndrome.
European heart journal. Digital healthAcute Esophageal Necrosis Secondary to Gastric Volvulus Presenting With Massive Aspiration of Upper Gastrointestinal Contents: A Case Report.
CureusGui Shen Wan ameliorates PCOS-like cellular phenotypes by suppressing TNF-α-mediated inflammation and restoring the PI3K/Akt signaling pathway.
Frontiers in immunologyFatal refractory chronic active Epstein-Barr virus infection with hemophagocytic lymphohistiocytosis and NK/T-cell lymphoma: a case report.
ASM case reportsBreathlessness presenting in a 74-year-old man: unravelling this complex clinical syndrome.
Breathe (Sheffield, England)Impact of PEEP on V/Q mismatch according to patient position and recruitability: a clinical prospective study.
Annals of intensive careClinical profile and treatment outcomes of patients with chronic presentations of autoimmune encephalitis: expanding the spectrum.
BMJ neurology openPreimplantation genetic testing for polygenic diseases: A novel paradigm in embryo selection.
Biochemistry and biophysics reportsHemophagocytic syndrome caused by Epstein-Barr virus and cytomegalovirus infection during neoadjuvant chemoradiotherapy for rectal cancer: a case report.
Frontiers in medicineAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Síndrome cerebeloso-facial-dentária
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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.
- Cost-utility and budget impact analyses of significant fibrosis detection in individuals with metabolic syndrome or obesity in Thailand.
- Time to initiate trophic feeding and predictors among preterm neonates admitted at General Hospitals in Tigray, 2025.
- Progressive bilateral nuclear cataracts associated with cerebellar-facial-dental syndrome: case report, literature review, and identification of a new genetic variant.
- Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.
- BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:444072(Orphanet)
- OMIM OMIM:616202(OMIM)
- MONDO:0014529(MONDO)
- GARD:17761(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55784869(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
