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Síndrome alcoólico fetal
ORPHA:1915CID-10 · Q86.0CID-11 · LD2F.00DOENÇA RARA

A síndrome alcoólica fetal (SAF) é uma síndrome de malformação rara causada pelo consumo excessivo de álcool pela mãe durante a gravidez. É caracterizada por deficiência de crescimento pré-natal e/ou pós-natal (peso e/ou altura <percentil 10), um conjunto único de anomalias faciais menores (fissuras palpebrais curtas, filtro palpebral plano e liso e lábio superior fino) e anormalidades graves do sistema nervoso central (SNC), incluindo microcefalia e comprometimento cognitivo e comportamental (deficiência intelectual, déficit na cognição geral, aprendizado e linguagem, função executiva, processamento visual-espacial, memória e atenção).

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Introdução

O que você precisa saber de cara

📋

A síndrome alcoólica fetal (SAF) é uma síndrome de malformação rara causada pelo consumo excessivo de álcool pela mãe durante a gravidez. É caracterizada por deficiência de crescimento pré-natal e/ou pós-natal (peso e/ou altura <percentil 10), um conjunto único de anomalias faciais menores (fissuras palpebrais curtas, filtro palpebral plano e liso e lábio superior fino) e anormalidades graves do sistema nervoso central (SNC), incluindo microcefalia e comprometimento cognitivo e comportamental (deficiência intelectual, déficit na cognição geral, aprendizado e linguagem, função executiva, processamento visual-espacial, memória e atenção).

Pesquisas ativas
13 ensaios
64 total registrados no ClinicalTrials.gov
Publicações científicas
2.732 artigos
Último publicado: 2026 Mar 30

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
6800.0
South Africa
Início
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q86.0
🇧🇷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
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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

😀
Face
8 sintomas
🧠
Neurológico
5 sintomas
🦴
Ossos e articulações
3 sintomas
👁️
Olhos
2 sintomas
👂
Ouvidos
2 sintomas
📏
Crescimento
2 sintomas

+ 5 sintomas em outras categorias

Características mais comuns

90%prev.
Dificuldade específica de aprendizagem
Muito frequente (99-80%)
90%prev.
Microcefalia
Muito frequente (99-80%)
90%prev.
Retardo do crescimento intrauterino
Muito frequente (99-80%)
90%prev.
Baixa estatura
Muito frequente (99-80%)
90%prev.
Comportamento atípico
Muito frequente (99-80%)
90%prev.
Comprometimento cognitivo
Muito frequente (99-80%)
32sintomas
Muito frequente (10)
Frequente (19)
Ocasional (3)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 32 características clínicas mais associadas, ordenadas por frequência.

Dificuldade específica de aprendizagemSpecific learning disability
Muito frequente (99-80%)90%
MicrocefaliaMicrocephaly
Muito frequente (99-80%)90%
Retardo do crescimento intrauterinoIntrauterine growth retardation
Muito frequente (99-80%)90%
Baixa estaturaShort stature
Muito frequente (99-80%)90%
Comportamento atípicoAtypical behavior
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico2.732PubMed
Últimos 10 anos200publicações
Pico202367 papers
Linha do tempo
2026Hoje · 2026🧪 2001Primeiro ensaio clínico📈 2023Ano de pico
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

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
2Fase 22
1Fase 11
·Pré-clínico17
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 20 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome alcoólico fetal

🗺️

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

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

Outros ensaios clínicos

64 ensaios clínicos encontrados, 13 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
636 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 636

#1

Costs of Underfunding Brain Development.

Developmental neuroscience2026

Healthcare costs are rising at an exponential rate. Given the constraints of limited resources, it is essential to make informed decisions about priorities to ensure the best possible health outcomes globally. The history of medicine illustrates how these priorities have shifted over time - from early focus on infectious diseases to later emphasis on noncommunicable conditions such as metabolic disorders. Today, neurodegenerative diseases and aging brain are the forefront of medical research, as these conditions profoundly affect individuals, families, and society. One in three people will experience a mental health disorder in their lifetime, yet it is not widely recognized that many of these conditions may have origins in pre-birth experiences and early life influences. Disruptions in progenitor proliferation, neuronal and glial migration, and differentiation during prenatal development can contribute to lifelong neurodevelopmental abnormalities. Despite the fundamental importance of brain development, most of the neuroscience funding is allocated to studying neurodegeneration, such as dementia and Parkinson's disease, while early life influences remain underexplored. Crucially, the impact of developmental factors begins even before conception. Environmental risks extend beyond direct maternal exposures during pregnancy; they include cumulative parental exposure to teratogenic agents affecting both male and female gametes, as well as early life environmental exposures affecting newborns, infants, and children. These influences are complex yet highly relevant to long-term health outcomes. We urge greater recognition of the developmental origins of disease and advocate for increased investment in preventive strategies. These include lifestyle modifications, dietary improvements, targeted supplementation, regular exercise, and minimizing exposure to environmental pollutants. Addressing these factors proactively could yield profound benefits for both individual and public health.

#2

Physiologic variation in sperm miRNAs tune embryonic gene regulatory programs and developmental outcomes.

bioRxiv : the preprint server for biology2026 Mar 18

Small RNAs delivered by sperm can transmit environmentally regulated, epigenetically inherited phenotypes to offspring, yet the mechanisms by which modest changes in sperm microRNA abundance overcome dilution within the much larger egg to influence embryonic development remain unresolved. Here, we show that physiologically relevant variation in individual sperm miRNAs is sufficient to quantitatively program embryonic gene expression and developmental outcomes. Using parthenogenetic and fertilized embryos, we show that as few as 200 molecules of miR-200c-3p or miR-465c-3p induces reproducible, dose-dependent gene expression responses across defined developmental windows. Parthenogenetic embryos faithfully recapitulate early miRNA-driven gene expression changes observed in fertilized embryos, validating their use for isolating early regulatory mechanisms. We further developed AGO2-REMORA, an RNA adenosine base editor fused to Argonaute2 to map miRNA-mRNA interactions in embryos, revealing that early mRNA repression reflects direct miRNA targeting, while transcriptional changes at later stages arise as secondary consequences of these initial interactions. Furthermore, we show that modest elevation of miR-200c-3p during early development is sufficient to induce transcriptional alterations through early development and produce craniofacial phenotypes in late-stage embryos, recapitulating features of fetal alcohol syndrome associated with paternal alcohol consumption. Together, these findings establish a generalizable framework by which small perturbations in sperm miRNA content quantitatively modulate early gene regulatory programs, triggering cascades that persist throughout development and influence offspring phenotype.

#3

Choline status and related health outcomes in humans: A scoping review.

Nutrition and health2026 Mar 18

Choline is an essential nutrient involved in human health and development across the lifespan. The evidence on choline and its health effects has been growing; yet the findings are inconsistent. We aimed to map the current evidence and identify gaps in knowledge. We conducted a scoping review of the studies that examined relationships between choline exposure and any health outcomes. MEDLINE, CINAHL, and the Cochrane Central Register of Controlled Trials were searched for research involving humans and published between January 2000 and May 2025. Screening and data abstraction were performed in duplicate. A total of 117 primary studies were included. Most of the studies were conducted in North America (54%) and Europe (22%). Cardiometabolic disease accounted for the largest proportion (34%), followed by offspring neurodevelopment (19%) and liver conditions (12%). The studies were predominantly observational (prospective 60%, retrospective 12%, cross-sectional 20%). The evidence regarding potential benefits and harms was reported to be insufficient or equivocal for many health outcomes. Based largely on data from small randomized controlled trials in women with prenatal exposure to alcohol or infants with fetal alcohol syndrome disorder, high maternal choline intake/status was associated with improved neurocognition and neurodevelopmental outcomes in the offspring. Potential benefits of high maternal choline intake/status was indicated for neurodevelopment of the offspring; however, the evidence was insufficient or equivocal for most of the outcomes reviewed. A more comprehensive synthesis incorporating preclinical evidence from animal studies will improve the current understanding of choline and its health effects.

#4

Organ-Specific Histopathological Effects of Prenatal Alcohol Exposure: A Narrative Review.

Congenital anomalies2026

The role of alcohol-induced epigenetic modifications that predispose the fetus to metabolic dysregulation, increased susceptibility to future substance use, and long-term behavioral and cognitive impairments has received increasing attention. Fetal alcohol syndrome (FAS) and fetal alcohol spectrum disorders (FASDs) remain underdiagnosed worldwide. As evidence continues to demonstrate that no safe level of alcohol consumption exists during pregnancy, strengthening public awareness, maternal education, and prenatal care services has become increasingly imperative. Prenatal alcohol exposure (PAE) induces distinct and reproducible histopathological alterations in multiple developing organs, including the brain, heart, liver, kidneys, lungs, eyes, limbs, and placenta. These alterations involve cellular degeneration, tissue disorganization, inflammatory infiltration, vascular abnormalities, and impaired organ architecture, arising from oxidative stress, inflammation, apoptosis, and disrupted developmental signaling during critical periods of fetal development. This narrative review provides a comprehensive synthesis of the organ-specific histopathological consequences of PAE and integrates the underlying cellular and molecular mechanisms contributing to these alterations. Future research should further elucidate the molecular basis of ethanol teratogenicity and explore potential therapeutic strategies, such as antioxidant supplementation, nutritional modulation, and neuroprotective agents. Nevertheless, complete maternal abstinence from alcohol remains the most effective preventive strategy. By integrating histopathological findings across multiple fetal organ systems within a unified developmental framework, this review offers a distinct contribution beyond existing literature focused primarily on epidemiology or diagnosis.

#5

Updating guidelines for the diagnosis of fetal alcohol spectrum disorders (FASD) in Poland.

Advances in clinical and experimental medicine : official organ Wroclaw Medical University2026 Mar 05

The prevalence of fetal alcohol spectrum disorders (FASD) in Poland is about 2%, but the prevalence of prenatal alcohol exposure (PAE) is much higher than previously reported. In the absence of a single biomarker or imaging test that can confirm the diagnosis, the identification of FASD relies on clinical diagnostic criteria; therefore, the first Polish diagnostic standards were developed in 2020. To present the process of updating the national diagnostic guidelines for FASD in Poland and discuss the key revisions made based on clinical implementation feedback. The work was carried out by the members of the Council for FASD Prevention and Treatment at the National Centre for Addiction Prevention in 4 steps: 1) a pilot implementation study; 2) a structured literature review supporting the update; 3) a formalized expert consensus process; and 4) stakeholder consultation. The updated guidelines include the following sections: Introduction, Methodology, Diagnostic categories, Diagnostic scheme, Ethical considerations, Evaluation of PAE, Evaluation of facial dysmorphism, Evaluation of growth impairment, and Evaluation of the central nervous system (CNS). Appendices containing practical tools useful in the diagnostic procedure are an important element of the recommendations. Key amendments include the introduction of the partial fetal alcohol syndrome (pFAS) diagnostic category; the addition of biomarker analysis as a tool to confirm PAE; simplification of the assessment of facial dysmorphologies; clarification of CNS evaluation; and discussion of the ethical concerns associated with FASD diagnosis. The updated national guidelines may improve the quality and standardization of FASD diagnosis not only in Poland, but also worldwide. The practical utility of each recommendation should be continuously monitored, validated, and updated.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC1.024 artigos no totalmostrando 196

2026

Physiologic variation in sperm miRNAs tune embryonic gene regulatory programs and developmental outcomes.

bioRxiv : the preprint server for biology
2026

Choline status and related health outcomes in humans: A scoping review.

Nutrition and health
2026

Organ-Specific Histopathological Effects of Prenatal Alcohol Exposure: A Narrative Review.

Congenital anomalies
2026

Updating guidelines for the diagnosis of fetal alcohol spectrum disorders (FASD) in Poland.

Advances in clinical and experimental medicine : official organ Wroclaw Medical University
2026

Urinary alcohol and ethyl glucuronide as a screening tool for alcohol use in pregnancy: A multicenter prospective study.

Acta obstetricia et gynecologica Scandinavica
2026

The Role of Selenium During Gestation in the Development of Fetal Congenital Anomalies: A Systematic Review.

Nutrients
2026

An examination of child outcomes and predictors of severity when prenatal alcohol exposure is frequent and heavy.

Alcohol, clinical &amp; experimental research
2026

The 129S1/SvImJ Mouse Strain Is Resistant to the Effects of Early Embryonic Alcohol and Other Sonic Hedgehog Inhibitors.

Birth defects research
2026

Diagnosis across the fetal alcohol spectrum disorders (FASD) continuum.

Current problems in pediatric and adolescent health care
2026

Foster Care Status and the Timing of Diagnosis of Fetal Alcohol Syndrome in a Medicaid Sample.

Public health reports (Washington, D.C. : 1974)
2026

The Intersections of Fetal Alcohol Syndrome with Autism Spectrum Disorder and Mood Dysregulation: A Rare Case of Behavioral Complexity.

Psychopharmacology bulletin
2026

MicroRNAs in fetal alcohol spectrum disorders: A systematic review of prenatal exposure and molecular targets.

Reproductive toxicology (Elmsford, N.Y.)
2025

Alcohol exposure during pregnancy and its impact on fetal neurodevelopment: a bibliometric and scientific mapping analysis.

Naunyn-Schmiedeberg's archives of pharmacology
2026

Levels and patterns of prenatal alcohol exposure associated with increased risk of a clinically meaningful adverse effect on cognitive function.

Alcohol, clinical &amp; experimental research
2025

Posterior fossa decompression in syndromic children with chiari-like posterior fossa crowding: a nationwide US-based study.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Sleep disturbance in children with prenatal alcohol exposure: a systematic review and meta-analysis.

Sleep medicine reviews
2025

Determination of markers of ethyl alcohol consumption in pregnancy.

Ceska gynekologie
2026

Prenatal alcohol exposure impairs offspring cognition through oxidative stress disrupting CREB/BDNF/TrkB signaling and GABAergic neuron deficits.

Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association
2025

A Barrier to Understanding Teratogenicity: The Critical Periods of Sensitivity for Most Structural Birth Defects Precede the Established Hemochorial Placenta.

Birth defects research
2025

Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
2025

Modulatory role of epigallocatechin-3-gallate (EGCG) on male and female reproductive disorders.

Reproductive toxicology (Elmsford, N.Y.)
2025

Diagnosing prenatal alcohol exposure and fetal alcohol syndrome in military-connected children: Insights from US military data claims, 2016-2023.

Alcohol, clinical &amp; experimental research
2025

Astaxanthin reverses neurodevelopmental impairment by decreasing oxidative stress-induced disruption of Maf/Bcl2 signaling in prenatal alcohol exposure.

Neuroreport
2025

Comorbidities associated with fetal alcohol spectrum disorders in the United States.

Scientific reports
2025

Betaine: A Promising Natural Product for Neurological and Psychiatric Diseases.

Current neuropharmacology
2025

OXSeg: Multidimensional Attention UNet-Based Lip Segmentation Using Semi-Supervised Lip Contours.

IEEE access : practical innovations, open solutions
2025

The ventral midline thalamus: Participation in neurological and neuropsychiatric disorders.

Neuroscience and biobehavioral reviews
2025

Imaging Manifestations of Alcohol Use-associated Disorders and Diseases.

Radiographics : a review publication of the Radiological Society of North America, Inc
2026

Costs of Underfunding Brain Development.

Developmental neuroscience
2025

Craniofacial Manifestation and Oral Health Care Needs in Pediatric Population With Fetal Alcohol Syndrome: A Systematic Review.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2025

Pattern of Deep Grey Matter Undersizing Boosts MRI-Based Diagnostic Classifiers in Fetal Alcohol Spectrum Disorders.

Human brain mapping
2025

Thalamic Nuclear Volumes in Fetal Alcohol Spectrum Disorders: From Adolescence to Middle-Age Twenty Years Later.

Biological psychiatry. Cognitive neuroscience and neuroimaging
2025

Special Health Care Needs in Internationally Adopted Children: Prevalence of Chronic Conditions and Interesting Origin-correlated Risk Factors.

Current pediatric reviews
2025

Prenatal Alcohol Exposure Inhibits Transient Expression of Autophagy and Synaptic Proteins in Developing Brain.

Obstetrics and gynecology research
2025

Healthcare utilisation and characteristics of adults with fetal alcohol syndrome: a descriptive population-based cohort study in Ontario, Canada.

Journal of intellectual &amp; developmental disability
2025

The chick embryo model as an educational tool to explore the effect of alcohol on cardiovascular development.

Advances in physiology education
2025

Prevalence of Fetal Alcohol Spectrum Disorders: A Pilot Study in Western Sweden.

Acta paediatrica (Oslo, Norway : 1992)
2025

Choline enhances elicited imitation memory performance in preschool children with prenatal alcohol exposure: a cumulative report of 3 randomized controlled trials.

The American journal of clinical nutrition
2025

Low to Moderate Prenatal Alcohol Exposure and Facial Shape of Children at Age 6 to 8 Years.

JAMA pediatrics
2025

Regional hippocampal thinning and gyrification abnormalities and associated cognition in children with prenatal alcohol exposure.

Journal of neurodevelopmental disorders
2025

The Impairment Argument's Coup de Grâce.

Bioethics
2024

Evaluation of Criminal Responsibility in a Patient with Fetal Alcohol Syndrome and Intellectual Disability.

Trends in psychiatry and psychotherapy
2025

Maternal and paternal risk factors associated with diagnoses within the continuum of fetal alcohol spectrum disorders in the USA: Proximal and distal influences.

Alcohol, clinical &amp; experimental research
2025

Fetal alcohol spectrum disorders: where we have come from, trends, and future directions.

Minerva pediatrics
2024

Purmorphamine Alters Anxiety-Like Behavior and Expression of Hedgehog Cascade Components in Rat Brain after Alcohol Withdrawal.

Biochemistry. Biokhimiia
2025

Surgical Treatment of Strabismus in Children With Developmental Delay: A Review of the Literature and Results of Personal Experience.

Journal of pediatric ophthalmology and strabismus
2025

Comparing rates of agreement between different diagnostic criteria for fetal alcohol spectrum disorder: A systematic review.

Alcohol, clinical &amp; experimental research
2025

Assessing Prenatal Alcohol Exposure History for Pediatric Patients: Practices Among U.S. Clinicians.

Maternal and child health journal
2024

Risk factors for self-reported alcohol consumption during pregnancy.

Bratislavske lekarske listy
2024

Italian Guidelines for the diagnosis and treatment of Fetal Alcohol Spectrum Disorders: structural abnormalities.

Rivista di psichiatria
2024

Italian Guidelines for the diagnosis and treatment of Fetal Alcohol Spectrum Disorders: clinical hallmarks.

Rivista di psichiatria
2024

Italian Guidelines for the diagnosis and treatment of Fetal Alcohol Spectrum Disorders.

Rivista di psichiatria
2024

Prenatal alcohol exposure and health at midlife: Self-reported health outcomes in two cohorts.

Alcohol, clinical &amp; experimental research
2025

Evaluation of TRPM2 Channel-Mediated Autophagic Signaling Pathway in Hippocampus and Cortex Tissues of Rat Offspring Following Prenatal Exposure to Elevated Alcohol Levels.

Environmental toxicology
2024

Effect of curcumin on the embryotoxic effect of ethanol in a zebrafish model.

Toxicology in vitro : an international journal published in association with BIBRA
2024

Efcab7 deletion sensitizes mice to the teratogenic effects of gastrulation-stage alcohol exposure.

Reproductive toxicology (Elmsford, N.Y.)
2024

Identification and Assessment of Undiagnosed Fetal Alcohol Spectrum Disorder: A Report of Three Cases.

Journal of insurance medicine (New York, N.Y.)
2024

Sex-Specific ADNP/NAP (Davunetide) Regulation of Cocaine-Induced Plasticity.

Journal of molecular neuroscience : MN
2024

Life outcomes in adults living with FASD in a rural South African community: A follow-up study.

African journal of disability
2024

A case of coexistence of multiple vascular anomalies including the absence of a left internal carotid artery, a left vertebral artery arising from the subclavian artery in a high cervical location, and a bovine arch associated with vertebral fusion.

Radiology case reports
2024

Administratively reported fetal alcohol spectrum disorders in commercially- and Medicaid-insured samples of children in the United States, 2015 - 2021.

Drug and alcohol dependence
2024

A Case of Secondary Pulmonary Hypertension in a Patient With Atrial Septal Defect and Fetal Alcohol Syndrome.

Cureus
2025

Fetal alcohol syndrome and population level health care usage in British Columbia, Canada.

Disability and health journal
2024

Genetic admixture predictors of fetal alcohol spectrum disorders (FASD) in a South African population.

Gene
2024

Prevalence of fetal alcohol spectrum disorder in foster care: A scoping review.

Alcohol, clinical &amp; experimental research
2024

Exercise reduces physical alterations in a rat model of fetal alcohol spectrum disorders.

Biological research
2024

Prenatal Exposures, Diagnostic Outcomes, and Life Experiences of Children and Youths with Fetal Alcohol Spectrum Disorder.

Nutrients
2024

Fetal Brain-Derived Exosomal miRNAs from Maternal Blood: Potential Diagnostic Biomarkers for Fetal Alcohol Spectrum Disorders (FASDs).

International journal of molecular sciences
2024

Analysis of alcohol-metabolizing enzymes genetic variants and RAR/RXR expression in patients diagnosed with fetal alcohol syndrome: a case-control study.

BMC genomics
2024

Alcohol exposure during pregnancy induces cardiac mitochondrial damage in offspring mice.

Birth defects research
2024

Alcohol intake during pregnancy reduces offspring bone epiphyseal growth plate chondrocyte proliferation through transforming growth factor β-1 inhibition in the Sprague Dawley rat humerus.

Anatomy &amp; cell biology
2024

Machine learning algorithms to the early diagnosis of fetal alcohol spectrum disorders.

Frontiers in neuroscience
2024

Development and psychometric evaluation of a questionnaire to measure university students' knowledge on the effects of alcohol use during pregnancy.

Frontiers in public health
2024

In Vivo Administration of Phosphatidic Acid, a Direct Alcohol Target Rescues Fetal Growth Restriction and Maternal Uterine Artery Dysfunction in Rat FASD Model.

Nutrients
2024

Lower resting state functional connectivity partially mediates adverse effects of prenatal alcohol exposure on arithmetic performance in children.

Alcohol, clinical &amp; experimental research
2025

Prescriptions for Antipsychotics: Youth with Intellectual/Developmental Disabilities Compared to Youth without Intellectual/Developmental Disabilities.

Journal of autism and developmental disorders
2024

An overview of current advances in perinatal alcohol exposure and pathogenesis of fetal alcohol spectrum disorders.

Journal of neurodevelopmental disorders
2024

GABA system as the cause and effect in early development.

Neuroscience and biobehavioral reviews
2024

Fetal alcohol spectrum disorder diagnostic clinic capacity in Canadian Provinces and territories.

PloS one
2024

Association of exposures to environmental chemicals estimated through primary teeth biomatrix and health outcomes in children and adolescents - A systematic review.

The Science of the total environment
2024

A dose-response analysis of the effects of prenatal alcohol exposure on cognitive development.

Alcohol, clinical &amp; experimental research
2024

A multi-year, multi-site study of the prevalence of fetal alcohol syndrome in South Africa.

Alcohol, clinical &amp; experimental research
2024

Constitutional chromosomal anomalies in children, fetal alcohol syndrome, and maternal toxicant exposures: A longitudinal cohort study.

Mutation research. Genetic toxicology and environmental mutagenesis
2024

Quantifying alcohol-attributable disability-adjusted life years to others than the drinker in Aotearoa/New Zealand: A modelling study based on administrative data.

Addiction (Abingdon, England)
2023

Common developmental trajectories and clinical identification of children with fetal alcohol spectrum disorders: A synthesis of the literature.

Advances in drug and alcohol research
2024

Scoping review on the role of the family doctor in the prevention and care of patients with foetal alcohol spectrum disorder.

BMC primary care
2024

Actions to prevent and identify fetal alcohol spectrum disorders to be implemented in general practice: a consensus.

Frontiers in medicine
2024

Population Level Mental Health Diagnoses for Youth with Intellectual/Developmental Disabilities Compared to Youth without Intellectual/Developmental Disabilities.

Research on child and adolescent psychopathology
2024

Reduced Interhemispheric Coherence and Cognition in Children with Fetal Alcohol Spectrum Disorder (FASD)-A Quantitative EEG Study.

Neuropediatrics
2023

Fetal Alcohol Spectrum Disorders and Inadequacy of Care: Importance of Raising Awareness in Clinical Practice.

Children (Basel, Switzerland)
2023

Expression of placental CD146 is dysregulated by prenatal alcohol exposure and contributes in cortical vasculature development and positioning of vessel-associated oligodendrocytes.

Frontiers in cellular neuroscience
2024

Developmental, sensory and behavioral outcomes among infants and toddlers with prenatal alcohol exposure.

Research in developmental disabilities
2024

Clinical Diagnosis and Management of Fetal Alcohol Spectrum Disorder and Sensory Processing Disorder in Children.

Children (Basel, Switzerland)
2023

Maternal and paternal risk factors for fetal alcohol spectrum disorders: Alcohol and other drug use as proximal influences.

Alcohol, clinical &amp; experimental research
2024

Hesperidin Protects Alcohol-Induced Mitochondrial Abnormalities via the Inhibition of Oxidative Stress and MPT Pore Opening in Newborn Male Rats as a Fetal Alcohol Syndrome Model.

Journal of studies on alcohol and drugs
2023

Distal tibial trabecular morphometry in a Sprague Dawley rat model of fetal alcohol syndrome: a micro focus X-ray computed tomography case-control study.

The Pan African medical journal
2023

Social prescribing for children and young people with neurodisability and their families initiated in a hospital setting: a systematic review.

BMJ open
2024

Gastrulation-stage alcohol exposure induces similar rates of craniofacial malformations in male and female C57BL/6J mice.

Birth defects research
2023

Alcohol induces neural tube defects by reducing retinoic acid signaling and promoting neural plate expansion.

Frontiers in cell and developmental biology
2024

Maternal risk factors for fetal alcohol spectrum disorders: Distal variables.

Alcohol, clinical &amp; experimental research
2023

Functional connectivity of cognition-related brain networks in adults with fetal alcohol syndrome.

BMC medicine
2024

Pregnancy characteristics and outcomes among birthing individuals with a diagnosis of fetal alcohol syndrome.

Alcohol, clinical &amp; experimental research
2023

[Alcohol and pregnancy: talking about it without taboos to prevent pregnancy].

Revue de l'infirmiere
2024

Extension for Community Healthcare Outcomes fetal alcohol spectrum disorder (ECHO FASD): Tele-mentoring program to increase healthcare capacity for FASD diagnosis.

Alcohol, clinical &amp; experimental research
2024

Secondary physical features in children with FASD.

European journal of medical genetics
2023

Spectral-based thickness profiling of the corpus callosum enhances anomaly detection in fetal alcohol spectrum disorders.

Frontiers in neuroscience
2023

Adult William's Syndrome: The Cause of an Unusual Vasculopathy and Biliary Abnormalities.

Cureus
2023

Brain Volume in Fetal Alcohol Spectrum Disorders Over a 20-Year Span.

JAMA network open
2023

Transcranial magnetic stimulation as a feasible, non-invasive, neuromodulatory intervention in fetal alcohol spectrum disorders. A very first proof of concept.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2024

A reply to Gillham on the impairment principle.

Medicine, health care, and philosophy
2024

Comparing narrative storytelling ability in individuals with autism and fetal alcohol spectrum disorders.

International journal of language &amp; communication disorders
2022

A hierarchical meta-analysis for settings involving multiple outcomes across multiple cohorts.

Stat (International Statistical Institute)
2023

Serum Levels of Hormones Regulating Appetite in Patients with Fetal Alcohol Spectrum Disorders.

Nutrients
2023

Alterations in Placental Inflammation-Related Gene Expression Partially Mediate the Effects of Prenatal Alcohol Consumption on Maternal Iron Homeostasis.

Nutrients
2023

Significance of Selected Environmental and Biological Factors on the Risk of FASD in Women Who Drink Alcohol during Pregnancy.

Journal of clinical medicine
2023

Autocrine positive feedback of tumor necrosis factor from activated microglia proposed to be of widespread relevance in chronic neurological disease.

Pharmacology research &amp; perspectives
2023

A Case Report on Congenital Cytomegalovirus.

Cureus
2024

Ethyl glucuronide and ethyl sulfate in the zebrafish after ethanol exposure.

Alcohol (Fayetteville, N.Y.)
2023

In utero ethanol exposure induces mitochondrial DNA damage and inhibits mtDNA repair in developing brain.

Frontiers in neuroscience
2023

Brain structural differences in children with fetal alcohol spectrum disorder and its subtypes.

Frontiers in neuroscience
2023

Ethanol Causes Cell Death and Neuronal Differentiation Defect During Initial Neurogenesis of the Neural Retina by Disrupting Calcium Signaling in Human Retinal Organoids.

Stem cell reviews and reports
2023

High-resolution imaging in studies of alcohol effect on prenatal development.

Advances in drug and alcohol research
2023

Neurotoxicology of alcohol: a bibliometric and science mapping analysis.

Frontiers in pharmacology
2024

Defending the impairment argument.

Journal of medical ethics
2023

Fragile X Syndrome and Fetal Alcohol Syndrome: Occurrence of Dual Diagnosis in a Set of Triplets.

Journal of developmental and behavioral pediatrics : JDBP
2023

Predicting Fetal Alcohol Spectrum Disorders Using Machine Learning Techniques: Multisite Retrospective Cohort Study.

Journal of medical Internet research
2023

Vision outcomes in children with fetal alcohol spectrum disorders.

Birth defects research
2023

Fetal alcohol syndrome in the UK.

Archives of disease in childhood
2023

Fetal Alcohol-Related Postnatal Growth Restriction Is Independent of Infant Feeding Practices and Postnatal Alcohol Exposure in a Prospective South African Birth Cohort.

Nutrients
2023

Genetically programmed retinoic acid deficiency during gastrulation phenocopies most known developmental defects due to acute prenatal alcohol exposure in FASD.

Frontiers in cell and developmental biology
2024

Impairing the impairment argument.

Journal of medical ethics
2023

Abortion, Impairment, and Well-Being.

The Journal of medicine and philosophy
2023

Oxidative Stress in a Mother Consuming Alcohol during Pregnancy and in Her Newborn: A Case Report.

Antioxidants (Basel, Switzerland)
2023

A systematic review: facial, dental and orthodontic findings and orofacial diagnostics in patients with FASD.

Frontiers in pediatrics
2023

Mapping corpus callosum surface reduction in fetal alcohol spectrum disorders with sulci and connectivity-based parcellation.

Frontiers in neuroscience
2023

Growth response of syndromic versus non-syndromic children born small for gestational age (SGA) to growth hormone therapy: a Belgian study.

Frontiers in endocrinology
2024

Establishing a multidisciplinary specialist centre for fetal alcohol spectrum disorders-Lessons learned from a model project in Germany.

Child: care, health and development
2023

Simultaneous Determination of Direct Blood Biomarkers of Ethanol in a Fetal Alcohol Syndrome Case Leading to Pregnancy Termination.

Therapeutic drug monitoring
2023

Birth Defects Associated with Prenatal Alcohol Exposure-A Review.

Children (Basel, Switzerland)
2023

Is perinatal substance abuse falling through the cracks?

Irish journal of psychological medicine
2023

Enhancing fetal alcohol spectrum disorders diagnosis with a classifier based on the intracerebellar gradient of volumetric undersizing.

Human brain mapping
2022

Orofacial Manifestations of Fetal Alcohol Syndrome: Two Case Reports and a Scoping Review.

Journal of dentistry for children (Chicago, Ill.)
2023

Racial/Ethnic Disparity in Association Between Fetal Alcohol Syndrome and Alcohol Intake During Pregnancy: Multisite Retrospective Cohort Study.

JMIR public health and surveillance
2023

In Utero Alcohol Exposure Impairs Retinal Angiogenesis and the Microvessel-Associated Positioning of Calretinin Interneurons.

eNeuro
2023

Population level administrative data evidence of visits to the emergency department by youth with intellectual/developmental disabilities in BC, Canada.

The American journal of emergency medicine
2023

Three Problems with the Impairment Argument.

Asian bioethics review
2023

The Association of the Hypothalamic-Pituitary-Adrenal Axis with Appetite Regulation in Children with Fetal Alcohol Spectrum Disorders (FASDs).

Nutrients
2023

Protective effects of resveratrol on the ethanol-induced disruption of retinogenesis in pluripotent stem cell-derived organoids.

FEBS open bio
2023

Prognostic factors for long-term outcome in children with fetal alcohol spectrum disorders.

Research in developmental disabilities
2023

Multifaceted case management during pregnancy is associated with better child outcomes and less fetal alcohol syndrome.

Annals of medicine
2023

Prenatal exposure to opioids and neurodevelopment in infancy and childhood: A systematic review.

Frontiers in pediatrics
2023

Comorbidities in autism spectrum disorder and their etiologies.

Translational psychiatry
2023

Development and Evaluation of a Virtual Model for Fetal Alcohol Spectrum Disorder (FASD) Assessment and Diagnosis in Children: A Pilot Study.

Children (Basel, Switzerland)
2023

Modeling the enigma of complex disease etiology.

Journal of translational medicine
2023

Fetal alcohol spectrum disorders.

Nature reviews. Disease primers
2023

Validation of the FASD-Tree as a screening tool for fetal alcohol spectrum disorders.

Alcohol, clinical &amp; experimental research
2023

Inhibitory control in young adult women with fetal alcohol syndrome: Findings from a pilot functional magnetic resonance imaging study.

Alcohol, clinical &amp; experimental research
2023

The Changes in the Level of Knowledge about the Effects of Alcohol Use during Pregnancy among Three Last Generations of Women in Poland.

International journal of environmental research and public health
2023

The impairment argument, ethics of abortion, and nature of impairing to the n + 1 degree.

Medicine, health care, and philosophy
2023

Why the wrongness of intentionally impairing children in utero does not imply the wrongness of abortion.

Journal of medical ethics
2023

Effects of developmental alcohol exposure on cortical multisensory integration.

The European journal of neuroscience
2023

Washington and Alaska statewide fetal alcohol spectrum disorder diagnostic clinical networks: Comparison of three decades of 4-Digit Code diagnostic outcomes and prenatal alcohol exposure histories.

Advances in pediatric research
2022

Long-term follow-up of a randomized controlled trial of choline for neurodevelopment in fetal alcohol spectrum disorder: corpus callosum white matter microstructure and neurocognitive outcomes.

Journal of neurodevelopmental disorders
2023

Comparison of three systems for the diagnosis of fetal alcohol spectrum disorders in a community sample.

Alcohol, clinical &amp; experimental research
2023

Baseline heart rate in infants with prenatal alcohol exposure: A systematic review and independent analysis.

Birth defects research
2022

Reading impairment in adolescents with fetal alcohol spectrum disorders.

Scientific studies of reading : the official journal of the Society for the Scientific Study of Reading
2022

Decreased tubulin-binding cofactor B was involved in the formation disorder of nascent astrocyte processes by regulating microtubule plus-end growth through binding with end-binding proteins 1 and 3 after chronic alcohol exposure.

Frontiers in cellular neuroscience
2022

Knowledge, attitudes, and practices of fetal alcohol spectrum disorder in health, justice, and education professionals: A systematic review.

Research in developmental disabilities
2023

Ethanol exposure perturbs sea urchin development and disrupts developmental timing.

Developmental biology
2023

Profiles of language and communication abilities in adolescents with fetal alcohol spectrum disorders.

Journal of the International Neuropsychological Society : JINS
2022

Mediating and Moderating Effects of Iron Homeostasis Alterations on Fetal Alcohol-Related Growth and Neurobehavioral Deficits.

Nutrients
2022

Fetal Alcohol Spectrum Disorder in a Newborn.

Cureus
2023

Prenatal alcohol exposure causes persistent microglial activation and age- and sex- specific effects on cognition and metabolic outcomes in an Alzheimer's Disease mouse model.

The American journal of drug and alcohol abuse
2022

Psychotropic Medication Utilization Among Children Diagnosed With Fetal Alcohol Spectrum Disorder.

Pediatrics
2023

Combining neuroanatomical features to support diagnosis of fetal alcohol spectrum disorders.

Developmental medicine and child neurology
2023

Eye Abnormalities in Children with Fetal Alcohol Spectrum Disorders: A Systematic Review.

Ophthalmic epidemiology
2022

Fetal alcohol spectrum disorders and access to regional center services in San Diego County.

Alcoholism, clinical and experimental research
2022

The Strengths and Positive Influences of Children With Fetal Alcohol Spectrum Disorders.

American journal on intellectual and developmental disabilities
2022

Fetal alcohol syndrome and the risk of neurodevelopmental disorders: A longitudinal cohort study.

Brain &amp; development
2022

The prevalence of fetal alcohol spectrum disorders in rural communities in South Africa: A third regional sample of child characteristics and maternal risk factors.

Alcoholism, clinical and experimental research
2022

Prenatal maternal alcohol exposure: diagnosis and prevention of fetal alcohol syndrome.

Obstetrics &amp; gynecology science
2022

Photonics probing of pup brain tissue and molecular-specific nuclear nanostructure alterations due to fetal alcoholism via light scattering/localization approaches.

Journal of biomedical optics
2022

Infant Social Withdrawal Behavior: A Key for Adaptation in the Face of Relational Adversity.

Frontiers in psychology
2022

In utero alcohol exposure impairs vessel-associated positioning and differentiation of oligodendrocytes in the developing neocortex.

Neurobiology of disease
2022

Autism Spectrum Disorder and Fetal Alcohol Spectrum Disorder: A Literature Review.

Brain sciences
2022

Epigenetics and Neuroinflammation Associated With Neurodevelopmental Disorders: A Microglial Perspective.

Frontiers in cell and developmental biology
2022

Proceedings of the 2021 annual meeting of the Fetal Alcohol Spectrum Disorders Study Group.

Alcohol (Fayetteville, N.Y.)
2022

Effectiveness of nutritional interventions to prevent nonprogressive congenital and perinatal brain injuries: a systematic review and meta-analysis of randomized trials.

Nutrition reviews
2022

Prenatal and postnatal insults differentially contribute to executive function and cognition: Utilizing touchscreen technology for perinatal brain injury research.

Experimental neurology
2022

Stability and change in the interpretation of facial emotions in fetal alcohol spectrum disorders from childhood to adolescence.

Alcoholism, clinical and experimental research
2022

Gestational weight gain and dietary energy, iron, and choline intake predict severity of fetal alcohol growth restriction in a prospective birth cohort.

The American journal of clinical nutrition
2022

Aging-Related Behavioral, Adiposity, and Glucose Impairments and Their Association following Prenatal Alcohol Exposure in the C57BL/6J Mouse.

Nutrients
2022

Effectiveness of Digital Interventions for Preventing Alcohol Consumption in Pregnancy: Systematic Review and Meta-analysis.

Journal of medical Internet research
2022

The pro-apoptotic Bax gene modifies susceptibility to craniofacial dysmorphology following gastrulation-stage alcohol exposure.

Birth defects research
2022

Prenatal smoking, alcohol and caffeine exposure and offspring externalizing disorders: a systematic review and meta-analysis.

Addiction (Abingdon, England)
2022

Purkinje cell-specific deletion of CREB worsens alcohol-induced cerebellar neuronal losses and motor deficits.

Alcohol (Fayetteville, N.Y.)
Ver todos os 1.024 no EuropePMC

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

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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. Costs of Underfunding Brain Development.
    Developmental neuroscience· 2026· PMID 40451172mais citado
  2. Physiologic variation in sperm miRNAs tune embryonic gene regulatory programs and developmental outcomes.
    bioRxiv : the preprint server for biology· 2026· PMID 41867768mais citado
  3. Choline status and related health outcomes in humans: A scoping review.
    Nutrition and health· 2026· PMID 41847819mais citado
  4. Organ-Specific Histopathological Effects of Prenatal Alcohol Exposure: A Narrative Review.
    Congenital anomalies· 2026· PMID 41793070mais citado
  5. Updating guidelines for the diagnosis of fetal alcohol spectrum disorders (FASD) in Poland.
    Advances in clinical and experimental medicine : official organ Wroclaw Medical University· 2026· PMID 41784045mais citado
  6. Early Postnatal Ethanol Exposure Has Long-Term Behavioral Consequences in Female Mice.
    Cells· 2026· PMID 41972698recente
  7. Growth hormone therapy in a patient with short stature due to fetal alcohol syndrome: seven-year follow-up.
    Clin Pediatr Endocrinol· 2026· PMID 41923788recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1915(Orphanet)
  2. MONDO:0016011(MONDO)
  3. GARD:599(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Artigo Wikipedia(Wikipedia)
  6. Q400277(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 alcoólico fetal
Compêndio · Raras BR

Síndrome alcoólico fetal

ORPHA:1915 · MONDO:0016011
Prevalência
Unknown
Herança
Not applicable
CID-10
Q86.0 · Síndrome fetal alcoólico (dismórfico)
CID-11
Ensaios
13 ativos
Início
Antenatal, Neonatal
Prevalência
6800.0 (South Africa)
MedGen
UMLS
C0015923
EuropePMC
Wikidata
Wikipedia
Papers 10a
DiscussaoAtiva

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