Raras
Buscar doenças, sintomas, genes...
Síndrome cerebeloso-facial-dentária
ORPHA:444072CID-10 · Q87.0OMIM 616202DOENÇA RARA

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.

Mantido por Agente Raras·Colaborar como especialista →

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.

Publicações científicas
3 artigos
Último publicado: 2021 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
3
pacientes catalogados
Início
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.0
🇧🇷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?
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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

🧠
Neurológico
11 sintomas
🦴
Ossos e articulações
10 sintomas
😀
Face
6 sintomas
❤️
Coração
5 sintomas
📏
Crescimento
3 sintomas
🧬
Pele e cabelo
3 sintomas

+ 20 sintomas em outras categorias

Características mais comuns

100%prev.
Osso longo delgado
Ocasional (29-5%)
100%prev.
HP:0003577
Frequência: 6/6
100%prev.
Atraso no desenvolvimento da fala e da linguagem
Frequência: 6/6
100%prev.
Deficiência intelectual
Frequência: 6/6
100%prev.
Baixa estatura
Frequência: 6/6
100%prev.
Cabelo fino
Muito frequente (99-80%)
67sintomas
Muito frequente (20)
Frequente (14)
Ocasional (31)
Sem dados (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 67 características clínicas mais associadas, ordenadas por frequência.

Osso longo delgadoSlender long bone
Ocasional (29-5%)100%
HP:0003577
Frequência: 6/6100%
Atraso no desenvolvimento da fala e da linguagemDelayed speech and language development
Frequência: 6/6100%
Deficiência intelectualIntellectual disability
Frequência: 6/6100%
Baixa estaturaShort stature
Frequência: 6/6100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Total histórico3PubMed
Últimos 10 anos200publicações
Pico2026198 papers
Linha do tempo
2025Hoje · 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

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.

BRF1Transcription factor IIIB 90 kDa subunitDisease-causing germline mutation(s) (loss of function) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (3)
RNA Polymerase III Abortive And Retractive InitiationRNA Polymerase III Transcription Initiation From Type 1 PromoterRNA Polymerase III Transcription Initiation From Type 2 Promoter
MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (1)
cerebellar-facial-dental syndrome
HGNC:11551UniProt:Q92994

Variantes genéticas (ClinVar)

96 variantes patogênicas registradas no ClinVar.

🧬 BRF1: GRCh37/hg19 14q32.2-32.33(chr14:97521552-107285437)x3 ()
🧬 BRF1: GRCh37/hg19 14q32.2-32.33(chr14:101180490-106329074)x1 ()
🧬 BRF1: NM_001100913.3(PACS2):c.34_36del (p.Ala12del) ()
🧬 BRF1: NM_001100913.3(PACS2):c.111C>G (p.Cys37Trp) ()
🧬 BRF1: NM_001387567.1(BTBD6):c.375-1G>T ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 15 variantes classificadas pelo ClinVar.

7
7
1
Patogênica (46.7%)
VUS (46.7%)
Benigna (6.7%)
VARIANTES MAIS SIGNIFICATIVAS
BRF1: NM_001519.4(BRF1):c.1207G>A (p.Gly403Ser) [Conflicting classifications of pathogenicity]
BRF1: NM_001519.4(BRF1):c.793_794delinsCATTTA (p.Thr265fs) [Likely pathogenic]
BRF1: NM_001519.4(BRF1):c.1714C>G (p.Arg572Gly) [Conflicting classifications of pathogenicity]
BRF1: NM_001519.4(BRF1):c.875C>A (p.Pro292His) [Pathogenic/Likely pathogenic]
BRF1: NM_001519.4(BRF1):c.667C>T (p.Arg223Trp) [Pathogenic]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
2Fase 21
1Fase 12
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome cerebeloso-facial-dentária

🗺️

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

🟢 Recrutando agora

2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

0 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Divulgue para pacientes e familiares que acompanham esta doença.
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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

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 a resistência antimicrobiana (AMR) devido ao uso generalizado e muitas vezes desnecessário de antibióticos para uma doença viral, levando a infecções bacterianas secundárias mais difíceis de tratar, especialmente em casos graves. Para pacientes e médicos, é vital a conscientização sobre o uso racional de antibióticos, guiado por diagnósticos precisos e programas de controle, além da vacinação, que indiretamente reduz a necessidade de antibióticos e, consequentemente, a AMR.

🇧🇷 traduzido
#2

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

Nature communications2026 Mar 23

É importante notar que o artigo científico fornecido é sobre a **Síndrome de Alport**, e não a Síndrome Cerebelar-facial-dentária, conforme mencionado na sua solicitação inicial. O resumo a seguir foca na Síndrome de Alport. --- Este estudo avançado aprofundou o diagnóstico genético da Síndrome de Alport, uma doença renal hereditária, ao identificar variantes genéticas em mais de 90% dos pacientes, sendo quase metade delas inéditas. Crucialmente, os pesquisadores demonstraram que métodos de sequenciamento mais completos são essenciais, pois detectaram tipos de variantes (não codificantes e estruturais) que seriam perdidas por testes padrão, como o sequenciamento do exoma completo. Isso oferece a médicos e pacientes uma compreensão mais clara das causas genéticas da doença, melhorando significativamente as chances de um diagnóstico preciso.

🇧🇷 traduzido
#3

A WHO global research priority agenda for wasting and nutritional oedema in infants and children under 5 years.

BMJ global health2026 Mar 23

Este artigo da OMS estabelece uma agenda global de pesquisa prioritária para preencher as lacunas de conhecimento na prevenção e manejo da desnutrição aguda (wasting) e do edema nutricional em bebês e crianças menores de 5 anos. Para médicos e pacientes, isso é crucial, pois foram identificadas 40 questões de pesquisa que guiarão os esforços até 2030, focando na eficácia e na entrega prática de intervenções. O objetivo é desenvolver soluções mais eficientes e acessíveis para prevenir e tratar essas condições graves, visando melhores resultados de saúde para as crianças.

🇧🇷 traduzido
#4

Cost-utility and budget impact analyses of significant fibrosis detection in individuals with metabolic syndrome or obesity in Thailand.

PloS one2026

Este estudo avaliou a custo-efetividade de diferentes estratégias de rastreamento para detectar fibrose hepática significativa em indivíduos com síndrome metabólica ou obesidade na Tailândia. Para pacientes com síndrome metabólica, apenas o rastreamento com o índice FIB-4 seguido de elastografia transitória (TE) mostrou ser custo-efetivo. Já para indivíduos com obesidade, todas as estratégias avaliadas (FIB-4+TE, SAFE+TE, ou apenas TE) foram consideradas custo-efetivas. Contudo, os autores alertam que a custo-efetividade não é uniformemente robusta e o impacto orçamentário é substancial, sugerindo que a implementação dessas estratégias deve equilibrar os potenciais ganhos de saúde com a acessibilidade e sustentabilidade financeira do sistema de saúde.

🇧🇷 traduzido
#5

Time to initiate trophic feeding and predictors among preterm neonates admitted at General Hospitals in Tigray, 2025.

PloS one2026

Este estudo revelou um atraso significativo no início da alimentação trófica para neonatos prematuros na região de Tigray, Etiópia, com uma mediana de 45 horas, bem acima das 24 horas recomendadas. Fatores como baixo peso ao nascer (<1500g), baixa pontuação APGAR ao 1º e 5º minuto, síndrome do desconforto respiratório e ausência de método canguru foram identificados como preditores importantes desse atraso. Para pacientes e médicos, isso destaca a necessidade urgente de focar nessas condições de risco para acelerar o início da alimentação e, assim, reduzir complicações graves como restrição de crescimento e mortalidade associadas a essa demora.

🇧🇷 traduzido

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2026

First Identification of a Heterozygous RNU4-2 and RNU4-1 Deletion Associated With Fetal Urogenital and Anorectal Malformations.

Prenatal diagnosis
2026

Partial resuscitative endovascular balloon occlusion of the aorta as a resuscitative strategy in traumatic hemorrhagic shock: A retrospective analysis of a Chinese single-center cohort.

Chinese journal of traumatology = Zhonghua chuang shang za zhi
2026

Reader comment regarding using "HINTS family" to diagnose stroke in the acute vestibular syndrome: A systematic review and meta-analysis.

The American journal of emergency medicine
2026

Psychological Recovery of "Second Victims" After Adverse Events: Experiences From Generation Z Emergency Nurses.

Journal of nursing management
2026

Perrault Syndrome Unmasked: Genomic Reclassification of a Fabry-Like CKDx Phenotype.

Kidney international
2026

Zonulin as an endophenotype for schizophrenia: A study in patients and unaffected siblings.

Psychiatry research
2026

Cancer risk associated with DPP4 inhibitors in type 2 diabetes: A pharmacovigilance analysis of the FDA Adverse Event Reporting System (FAERS).

PloS one
2026

Simultaneous Management of May-Thurner Syndrome and Spigelian Hernia: A Case Report.

The American journal of case reports
2026

[Oropharyngeal dysphagia as a neurogeriatric syndrome].

Zeitschrift fur Gerontologie und Geriatrie
2026

Hip Spine Syndrome: Management of Patients With Concurrent Hip and Spine Degenerative Pathologies: Erratum.

The Journal of the American Academy of Orthopaedic Surgeons
2026

Biological, Radiological, and Clinical Significance of Spotty Calcification in Coronary Artery Disease: A State-of-the-Art Review.

JACC. Cardiovascular imaging
2026

Is Sex by Age Interaction The Missing Factor in Acute Kidney Injury Epidemiology?

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
2026

Ticagrelor Versus Prasugrel in Diabetes and Multivessel Coronary Disease: Insights From the TUXEDO-2 Trial.

Cardiology in review
2026

[Post-COVID neurological sequelae, proposed mechanisms and therapeutic approaches].

Medecine sciences : M/S
2026

Midterm Outcomes of Staged Bilateral Hip Arthroscopy for Femoroacetabular Impingement Syndrome Show Comparable Outcomes Between Time Interval More or Less Than 12 Months of Bilateral Procedures.

Arthroscopy : the journal of arthroscopic &amp; related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy Association
2026

The evaluation of plozasiran for the treatment of familial chylomicronemia syndrome.

Expert review of endocrinology &amp; metabolism
2026

Robot-assisted resection of a large intrathoracic osteochondroma originating from the third rib in the context of hereditary multiple osteochondroma syndrome.

Multimedia manual of cardiothoracic surgery : MMCTS
2026

Author Correction: Rescuing fertility: C-Phycocyanin prevents ovarian damage through NRF2-mediated ferroptosis pathways in polycystic ovary syndrome models.

Zoological research
2026

The Economic Burden of Metabolic Syndrome in Elective Surgery: An Australian Cost-of-Illness Study.

ANZ journal of surgery
2026

The effects of anabolic-androgenic steroids administration on oral health in humans: a scoping review.

The Journal of sports medicine and physical fitness
2026

Combining blood biomarkers and the German version of the Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID-G) for diagnosing cognitive decline in Down syndrome.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2026

Predicting cardiovascular events in hemodialysis patients based on the fusion of physicochemical indicators and tongue images: a prospective and multicenter study.

Frontiers in physiology
2026

Epidemiological Risk Factor Analysis for Maternal Mortality Associated with Eclampsia: A Single-Center Study from Tertiary Hospital Garut.

International journal of women's health
2026

A Rash Decision: Mycoplasma-Induced Mucositis in a Young Adult.

Cureus
2026

Localized Pulmonary Amyloidosis Associated With Sjögren's Syndrome, Coexisting Lymphoid Interstitial Pneumonia, and a Severe Double Aortic Lesion: A Case Report and Literature Review.

Cureus
2026

Extrapulmonary Tuberculosis (TB) Mimicking Meigs' Syndrome: A Case Report.

Cureus
2026

The roles of salivary secretory IgA on the development of oral candidiasis.

Frontiers in oral health
2026

Bilateral Hypertrophic Olivary Degeneration Following Unilateral Mesencephalic Hemorrhage.

Clinical case reports
2026

Revisiting the Concept of DIC: A Phenotype-guided Framework for Modern Hemostatic Medicine.

Juntendo medical journal
2026

Case Report: Fatal Streptococcus pyogenes infection secondary to closed femoral fracture.

Frontiers in medicine
2026

Established and emerging non-cellular therapies in inherited bone marrow failure syndromes.

Frontiers in immunology
2026

Fractional CO2 laser therapy for genitourinary syndrome of menopause: symptom-specific trajectories, exposure-outcome associations, and ultrasonographic changes in vulvar soft tissue in a cohort of 826 women.

Frontiers in reproductive health
2026

Beyond body mass index: visceral adiposity and metabolic alterations as early markers of atrial dysfunction and atrial fibrillation in midlife.

Frontiers in endocrinology
2026

Effectiveness and safety of auricular therapy for polycystic ovary syndrome: a systematic review and meta-analysis.

Frontiers in endocrinology
2026

An Overview of Ischemic Preconditioning as a Potential Therapeutic Target for Chronic Muscle Pain.

Journal of pain research
2026

The evolving landscape of CAR T cell therapy in children and young adults with B cell acute lymphoblastic leukemia.

Molecular therapy. Oncology
2026

Unmasking Brugada syndrome: a case report of diagnostic oversights.

European heart journal. Case reports
2026

Burning Mouth Syndrome and the Oral Microbiome: Unveiling Potential Links.

Biomedicine hub
2026

Unraveling the complexities: A comprehensive review of severe fever with thrombocytopenia syndrome and its associated complications.

iScience
2026

Early hypocortisolism with persistent remission following osilodrostat in a patient with long-standing Cushing disease.

JCEM case reports
2026

Successful treatment of a case of paraganglioma presenting Takotsubo syndrome.

World journal of emergency medicine
2026

Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).

Clinical genetics
2026

Extending t linear mixed models for longitudinal data with non-ignorable dropout applied to AIDS studies.

Biometrical journal. Biometrische Zeitschrift
2026

Therapeutic dissociation of CGRP-targeted treatments in migraine and complex regional pain syndrome: Authors' reply.

Cephalalgia : an international journal of headache
2026

Children and adolescents with disorders of gut-brain interaction with comorbid hypermobility and orthostatic intolerance have worse outcomes.

Journal of pediatric gastroenterology and nutrition
2026

Efficacy and safety of Clevidipine for blood pressure control after carotid endarterectomy: a prospective cohort study.

Journal of anesthesia, analgesia and critical care
2026

Treatment of Xerostomia with Mesenchymal Stem Cells - A Systematic Review and Meta-Analysis of Clinical Trials.

Stem cell reviews and reports
2026

Increased VH4+JH6+ antibody heavy chain use in plasmablasts from asymptomatic multiple sclerosis patients.

Genes and immunity
2026

Body Iron Stores and Metabolic Syndrome in Adults Free of Cardiometabolic Disease From Southwestern Colombia.

Biological trace element research
2026

Why Is Colorectal Cancer Occurring Earlier? Metabolic Dysfunction, Underrecognized Carcinogens, and Emerging Controversies.

Current obesity reports
2026

Treatment of Acute Myeloid Leukemias and Myelodisplastic Syndromes Relapsing After Allogeneic Stem Cell Transplantation: An In-Depth Analysis of the GITMO AML/MDS-Relapse Registry Study.

Clinical lymphoma, myeloma &amp; leukemia
2026

[Erythrocyte sedimentation rate: Rest in peace].

La Revue de medecine interne
2026

Beyond the tear: the enduring role of aortic pathology in the era of genomic medicine.

Open heart
2026

Lung ultrasound score ≥ 6 predicts surfactant administration decisions in meconium aspiration syndrome: a multicenter prospective study.

Jornal de pediatria
2026

In-hospital cardiac arrest in non-ST-segment elevation myocardial infarction: characteristics and association of early intervention with risk -findings from the CCC-ACS project.

Resuscitation
2026

Self-testing for 5 respiratory viruses in adults ≥50 years of age in Germany for longitudinal monitoring of community-acquired acute respiratory infections.

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases
2026

Development and application of NanoLuc-based LIPS assay for antibody detection of orthohantavirus infections and vaccine responses.

International journal of biological macromolecules
2026

Mycophenolate mofetil versus prednisone for the initial treatment of idiopathic steroid-sensitive nephrotic syndrome in children in Germany (INTENT): a multicentre, open-label, randomised, controlled, parallel-group, non-inferiority, phase 3 trial.

The Lancet. Child &amp; adolescent health
2026

Anti-CD19 CAR T cell therapy for refractory SLE-ITP.

Med (New York, N.Y.)
2026

Reframing schizophrenia as a neurodevelopmental syndrome: The scientific and social imperative.

Schizophrenia research
2026

Non-pharmacological care in neonatal abstinence syndrome. Scoping review.

Journal of pediatric nursing
2026

Neurofeedback interventions for obsessive-compulsive and related disorders: Current evidence and future directions.

Journal of psychiatric research
2026

The effect of adrenalectomy on the patients with Mild Autonomous Cortisol Secretion.

American journal of surgery
2026

Longitudinal associations among childhood trauma, oxytocin, and metabolic risk in schizophrenia.

Psychiatry research
2026

Physical activity patterns and chronic kidney disease risk: a 5-year study in stage 1 cardiovascular-kidney-metabolic syndrome.

Annals of physical and rehabilitation medicine
2026

Early Steroid and Anakinra Use to Manage Axicabtagene Ciloleucel Toxicity Reduces the Total Duration of CRS and ICANS.

Blood advances
2026

Association between COVID-19 vaccination and sudden death in apparently healthy younger individuals: A population-based case-control study.

PLoS medicine
2026

Sleep performance in MELAS is related not only to the syndrome, but also to several other endogenous and exogenous determinants.

Sleep &amp; breathing = Schlaf &amp; Atmung
2026

The Prevention of Heart Failure Risk Assessment and Early Intervention along the Cardiovascular Continuum.

Current heart failure reports
2026

Argon laser demarcation of AIDS-related cytomegalovirus retinitis in resource-limited setting.

International ophthalmology
2026

Paradoxical Expression of Ionotropic Glutamate Receptors in Leucocytes.

Clinical reviews in allergy &amp; immunology
2026

An evaluation of axatilimab for the treatment of chronic graft-versus-host disease.

Expert opinion on biological therapy
2026

Intravenous 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 Quimioterapia
2026

Modified Delphi Consensus Guidelines for Pelvic Floor Botulinum Toxin Injection.

Urogynecology (Philadelphia, Pa.)
2026

Danon Disease Diagnosed by Multimodal Imaging.

JACC. Case reports
2026

Recurrent Transient Cortical Blindness After Bilateral Carotid Artery Stenting.

JACC. Case reports
2026

Women with chronic pelvic pain can be stratified using multimodal assessment.

Pain
2026

LRP4-Related Lethal Syndromic Form of Syndactyly in Limousin Cattle.

Animal genetics
2026

Continuous 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 Liver
2026

Delayed fatal neurotoxicity in post CAR-T cell therapy for multiple myeloma, a case report.

Leukemia research reports
2026

QTc measurement using Apple Watch electrocardiogram in congenital long QT syndrome.

European heart journal. Digital health
2026

Acute Esophageal Necrosis Secondary to Gastric Volvulus Presenting With Massive Aspiration of Upper Gastrointestinal Contents: A Case Report.

Cureus
2026

Gui Shen Wan ameliorates PCOS-like cellular phenotypes by suppressing TNF-α-mediated inflammation and restoring the PI3K/Akt signaling pathway.

Frontiers in immunology
2026

Fatal refractory chronic active Epstein-Barr virus infection with hemophagocytic lymphohistiocytosis and NK/T-cell lymphoma: a case report.

ASM case reports
2026

Breathlessness presenting in a 74-year-old man: unravelling this complex clinical syndrome.

Breathe (Sheffield, England)
2026

Impact of PEEP on V/Q mismatch according to patient position and recruitability: a clinical prospective study.

Annals of intensive care
2026

Clinical profile and treatment outcomes of patients with chronic presentations of autoimmune encephalitis: expanding the spectrum.

BMJ neurology open
2026

Preimplantation genetic testing for polygenic diseases: A novel paradigm in embryo selection.

Biochemistry and biophysics reports
2026

Hemophagocytic syndrome caused by Epstein-Barr virus and cytomegalovirus infection during neoadjuvant chemoradiotherapy for rectal cancer: a case report.

Frontiers in medicine

Associações

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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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. Lessons From the Coronavirus Disease 2019 Pandemic: Implications for Antimicrobial Stewardship for COVID-19 Management.
    Journal of Korean medical science· 2026· PMID 41873444mais citado
  2. Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.
    Nature communications· 2026· PMID 41872207mais citado
  3. 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
  4. Cost-utility and budget impact analyses of significant fibrosis detection in individuals with metabolic syndrome or obesity in Thailand.
    PloS one· 2026· PMID 41871114mais citado
  5. Time to initiate trophic feeding and predictors among preterm neonates admitted at General Hospitals in Tigray, 2025.
    PloS one· 2026· PMID 41871109mais citado
  6. Progressive bilateral nuclear cataracts associated with cerebellar-facial-dental syndrome: case report, literature review, and identification of a new genetic variant.
    J AAPOS· 2021· PMID 34628026recente
  7. Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.
    Am J Med Genet A· 2020· PMID 32896090recente
  8. BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies.
    Clin Genet· 2017· PMID 27748960recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:444072(Orphanet)
  2. OMIM OMIM:616202(OMIM)
  3. MONDO:0014529(MONDO)
  4. GARD:17761(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. 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

Síndrome cerebeloso-facial-dentária
Compêndio · Raras BR

Síndrome cerebeloso-facial-dentária

ORPHA:444072 · MONDO:0014529
Prevalência
<1 / 1 000 000
Casos
3 casos conhecidos
Herança
Autosomal recessive
CID-10
Q87.0 · Síndromes com malformações congênitas afetando predominantemente o aspecto da face
Início
Antenatal, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C4015495
EuropePMC
Wikidata
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