Raras
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Síndrome Aicardi
ORPHA:50CID-10 · Q04.0CID-11 · LD20.YOMIM 304050DOENÇA RARA

A síndrome de Aicardi é uma doença rara do neurodesenvolvimento, ou seja, que afeta o desenvolvimento do cérebro. Ela é definida por três características principais: a ausência (total ou parcial) de uma estrutura cerebral chamada corpo caloso; manchas ou falhas típicas na retina e na coroide (partes do olho); e convulsões que aparecem na infância, conhecidas como espasmos infantis. A síndrome afeta quase que exclusivamente meninas.

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Introdução

O que você precisa saber de cara

📋

A síndrome de Aicardi é uma doença rara do neurodesenvolvimento, ou seja, que afeta o desenvolvimento do cérebro. Ela é definida por três características principais: a ausência (total ou parcial) de uma estrutura cerebral chamada corpo caloso; manchas ou falhas típicas na retina e na coroide (partes do olho); e convulsões que aparecem na infância, conhecidas como espasmos infantis. A síndrome afeta quase que exclusivamente meninas.

Pesquisas ativas
1 ensaio
3 total registrados no ClinicalTrials.gov
Publicações científicas
293 artigos
Último publicado: 2026 Jan

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
United States
Início
Neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q04.0
🇧🇷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
14 sintomas
🦴
Ossos e articulações
12 sintomas
👁️
Olhos
9 sintomas
😀
Face
7 sintomas
📏
Crescimento
4 sintomas
🫃
Digestivo
4 sintomas

+ 24 sintomas em outras categorias

Características mais comuns

90%prev.
Polimicrogiria
Muito frequente (99-80%)
90%prev.
Deficiência intelectual, moderada
Muito frequente (99-80%)
90%prev.
Espasmos infantis
Muito frequente (99-80%)
90%prev.
Agenesia parcial do corpo caloso
Muito frequente (99-80%)
90%prev.
Paquigiria
Muito frequente (99-80%)
90%prev.
Atraso global grave do desenvolvimento
Muito frequente (99-80%)
80sintomas
Muito frequente (9)
Frequente (20)
Ocasional (21)
Sem dados (30)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 80 características clínicas mais associadas, ordenadas por frequência.

PolimicrogiriaPolymicrogyria
Muito frequente (99-80%)90%
Deficiência intelectual, moderadaIntellectual disability, moderate
Muito frequente (99-80%)90%
Espasmos infantisInfantile spasms
Muito frequente (99-80%)90%
Agenesia parcial do corpo calosoPartial agenesis of the corpus callosum
Muito frequente (99-80%)90%
PaquigiriaPachygyria
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico293PubMed
Últimos 10 anos93publicações
Pico201617 papers
Linha do tempo
2026Hoje · 2026🧪 2002Primeiro ensaio clínico📈 2016Ano 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.
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 2 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome Aicardi

🗺️

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

1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

3 ensaios clínicos encontrados, 1 ativos.

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

📖Melhor nível de evidência: Revisão
Timeline de publicações
79 papers (10 anos)
#1

Fetal Neuroimaging in Aicardi Syndrome: A Case Report and Literature Review.

Cureus2026 Jan

Aicardi syndrome (AIC) is a congenital condition involving characteristic neurological and ocular abnormalities. We describe a 30-year-old pregnant woman referred at 32 weeks of gestation after an ultrasound at 29 weeks showed corpus callosum agenesis, an interhemispheric arachnoid cyst, and colpocephaly. These findings raised prenatal suspicion of AIC. Postnatal evaluation confirmed the diagnosis with the identification of chorioretinal lacunae on fundoscopic examination. In this case, the prenatal imaging findings were key to recognizing a pattern suggestive of AIC, while postnatal assessment provided the definitive confirmation. This report highlights the role of detailed fetal neuroimaging in raising suspicion of AIC during pregnancy and underscores the importance of coordinated postnatal evaluation and multidisciplinary counseling.

#2

Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approach.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society2025 Nov 27

Aicardi syndrome (AIC) is a rare neurodevelopmental disorder historically characterised by the presence of chorioretinal lacunae, corpus callosum agenesis, infantile spasms and several supporting features that aid in diagnosis. However, the unclear aetiology and evolving diagnostic tools have led to ongoing reconsideration of the criteria, based on individual approaches. Our study aimed to establish, for the first time, an expert-based consensus on diagnostic criteria for AIC by integrating both existing and novel ones. A geographically diverse and multidisciplinary group of expert physicians was invited to participate in a modified Delphi study, to achieve consensus on major, supportive and alert diagnostic criteria applicable in clinical practice. Heterogeneity of available data, due to the rarity of the disease, we deliberately did not design the study to produce a fixed diagnostic algorithm. A total of 55 clinical experts participated in the Delphi study. The study found consensus on the historical triad of symptoms, while also introducing new major criteria: the coexistence of multiple cerebral malformations in a single patient, alongside cognitive impairment. The panel also identified additional supportive features and categorized infrequently reported, non-pathognomonic signs as alert criteria such as red flags that could prompt reconsideration of the diagnosis. The Delphi method successfully achieved a consensus on diagnostic criteria for AIC based on expert opinion. However, inherent limitations include the ultra-rare nature of AIC, variability in clinical experience among panellists, and uneven geographical representation, which may affect generalizability. The study emphasizes the need for ongoing research to validate and refine these criteria, particularly in light of advances in genetic and neurological knowledge. Given the unresolved aetiology of AIC, regular updates and enrichment of the diagnostic criteria remain essential, alongside the need to collect further evidence to support the development of a diagnostic algorithm.

#3

Women With Genetic Epilepsies.

Neurology. Genetics2025 Feb

Some epilepsy syndromes are more common in female individuals. Often, these syndromes have an underlying genetic variant involving the X chromosome that is typically lethal in male individuals, resulting in a higher female prevalence. However, some of the idiopathic generalized epilepsies such as juvenile myoclonic epilepsy are conditions with complex inheritance, with thousands of variants in genes throughout the genome. But they can also have a predominance in female individuals. In this study, we performed a narrative review of PubMed and Scopus using the following entries: "epilepsy in women," "genetic epilepsy in female individuals," "epilepsy genetics in women," "female-specific epilepsy genetics," "epilepsy and genetic mutations in female individuals." The findings were synthesized and described according to clinical characteristics, underlying genetic mechanisms, and treatment considerations for these epilepsy syndromes manifesting largely in female individuals. The epilepsy syndromes reviewed here include Rett syndrome, CDKL5 deficiency disorder, PCDH19-related epilepsy, subcortical band heterotopia, periventricular heterotopia, Aicardi syndrome, and juvenile myoclonic epilepsy. Recognizing these epilepsy syndromes and understanding their underlying genetic etiology helps provide a tailored treatment approach early in the course of the disease. It can also assist with genetic counselling for family members who plan to have children.

#4

Microphthalmia and Infantile Spasms Leading to the Diagnosis of Aicardi Syndrome: A Case Report and Literature Review of a Rare Entity.

Cureus2025 Dec

Aicardi syndrome is a rare neurodevelopmental disorder characterized by the triad of corpus callosum agenesis, chorioretinal lacunae, and infantile spasms. Clinical presentation may vary widely, and ocular abnormalities can precede neurological symptoms. We report a case of a four-month-old female infant, initially referred for evaluation of unilateral microphthalmia and mild developmental delay. Ophthalmological examination revealed marked right microphthalmia, chorioretinal lacunae, and an optic disc coloboma in the left eye. Approximately one month later, she presented with new-onset, clustered episodes of axial flexion spasms, characteristic of infantile spasms. An electroencephalogram showed hypsarrhythmia, leading to a diagnosis of West syndrome. Subsequent brain magnetic resonance imaging revealed complete agenesis of the corpus callosum, multiple interhemispheric and intraventricular cysts, and a posterior fossa cyst. The constellation of these findings confirmed the diagnosis of Aicardi syndrome. The definitive diagnosis relies on integrating ophthalmological findings with neuroimaging and electrophysiological studies. Early recognition of the triad, especially when atypical ocular features such as unilateral severe microphthalmia act as an early presenting feature preceding the onset of spasms, allows for prompt initiation of anti-epileptic therapy and coordinated multidisciplinary care, which is essential for managing the severe developmental and neurological challenges associated with this rare syndrome.

#5

Aicardi syndrome: Clinical spectrum of a rare disorder.

Journal of family medicine and primary care2025 Mar

Aicardi syndrome is a rare genetic syndrome reported exclusively in females, with reported incidence of approximately 1 in 1.1 lakh live births. The clinical condition comprises of triad of infantile spasms, and mental retardation with neuroimaging findings of complete corpus callosum, agenesis and presence of chorioretinal degeneration observed during on eye examination. Here, authors reported the case of a 2-year-old female who exhibited typical clinical features, including seizures, developmental delay, and distinctive ocular abnormalities. MRI showed corpus callosum agenesis, an interhemispheric fissure cyst, and polymicrogyria. EEG depicted high voltage, polymorphic rhythm with superimposed multifocal spikes and wave discharges. Fundus examination revealed chorioretinal degeneration. This case emphasizes the importance of early recognition, accurate diagnosis, and comprehensive management strategies to optimizing outcomes for individuals with Aicardi syndrome.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC226 artigos no totalmostrando 90

2026

Fetal Neuroimaging in Aicardi Syndrome: A Case Report and Literature Review.

Cureus
2025

Microphthalmia and Infantile Spasms Leading to the Diagnosis of Aicardi Syndrome: A Case Report and Literature Review of a Rare Entity.

Cureus
2025

Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approach.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2025

Aicardi syndrome: Clinical spectrum of a rare disorder.

Journal of family medicine and primary care
2025

Women With Genetic Epilepsies.

Neurology. Genetics
2024

Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published cases.

Orphanet journal of rare diseases
2024

Transforming neurosurgical approaches to Aicardi syndrome through Artificial Intelligence.

Neurosurgical review
2024

Prenatal and Postnatal Diagnosis and Genetic Background of Corpus Callosum Malformations and Neonatal Follow-Up.

Children (Basel, Switzerland)
2024

Population-based study of rare epilepsy incidence in a US urban population.

Epilepsia
2024

Aicardi Syndrome in an Infant with Migrating Focal Seizure.

Neurology India
2023

Teaching Neuroimage - Aicardi Syndrome: A Triad of Epileptic Spasms, Agenesis of Corpus Callosum, and Chorio-Retinal Lacunae.

Neurology India
2023

Utilizing Infantile Spasm Seizure Activity as a Baseline Vital in the Setting of Acute Pseudomonas aeruginosa Pneumonia.

Cureus
2023

Aicardi syndrome in a Nigerian female child: A case report and literature review of a rare neuro-developmental disorder from North-Western Nigeria.

Journal of the National Medical Association
2023

Aicardi Syndrome Is a Genetically Heterogeneous Disorder.

Genes
2023

Intracranial arachnoid cysts.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2023

Therapeutic positioning to address neuromuscular scoliosis on an adolescent child with Aicardi syndrome: a case study.

Assistive technology : the official journal of RESNA
2022

Evaluation of immunological abnormalities in patients with rare syndromes.

Central-European journal of immunology
2023

A case of Aicardi syndrome associated with duplication event of Xp22 including SHOX.

Ophthalmic genetics
2022

Ocular features in Aicardi syndrome: A case report.

Medicine
2023

Imaging Similarities Between Oral-Facial-Digital Syndrome Type 1 and Aicardi Syndrome: Prenatal and Postnatal Magnetic Resonance Imaging (MRI) Findings in 4 Patients.

Journal of child neurology
2022

EEG at onset and MRI predict long-term clinical outcome in Aicardi syndrome.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
2022

A Case of Ophthalmoplegia, Hypotonia, and Developmental Delay in the Setting of Corpus Callosum Hypoplasia.

Cureus
2022

Diagnostic approach to Aicardi syndrome: A case report.

Radiology case reports
2022

A rare case of bilateral vitreoretinopathy of Aicardi syndrome.

American journal of ophthalmology case reports
2022

The role of vagus nerve stimulation in genetic etiologies of drug-resistant epilepsy: a meta-analysis.

Journal of neurosurgery. Pediatrics
2022

Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case-series.

Prenatal diagnosis
2021

Current medico-psycho-social conditions of patients with West syndrome in Japan.

Epileptic disorders : international epilepsy journal with videotape
2021

Case Report: Subtotal Hemispherotomy Modulates the Epileptic Spasms in Aicardi Syndrome.

Frontiers in neurology
2021

Ketogenic Diet Therapy for Epilepsy Associated With Aicardi Syndrome.

Journal of child neurology
2021

Aicardi syndrome in a 7-month-old girl with tonic seizures and skeletal defects: A case report.

Annals of medicine and surgery (2012)
2021

Hepatic Adenomatosis in Aicardi Syndrome: a Clinical Report and Review of the Literature.

Journal of gastrointestinal cancer
2021

Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome.

Neurology
2021

Hypercalcemia in Children Using the Ketogenic Diet: A Multicenter Study.

The Journal of clinical endocrinology and metabolism
2020

Aicardi syndrome in a prematurely born baby with retinopathy of prematurity: eye as a window to a systemic pathology.

BMJ case reports
2020

[Retinal abnormalities in three genetic disorders involving the X chromosome].

Journal francais d'ophtalmologie
2020

3D facial morphometry in Italian patients affected by Aicardi syndrome.

American journal of medical genetics. Part A
2020

Teaching Video NeuroImages: Epileptic spasms and characteristic ophthalmologic findings: A diagnostic conundrum.

Neurology
2021

Morning glory optic nerve in Aicardi syndrome: Report of a case with fluorescein angiography.

European journal of ophthalmology
2020

Corpus Callosotomy for Refractory Epilepsy in Aicardi Syndrome: Case Report and Focused Review of the Literature.

World neurosurgery
2020

Aicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis.

Neuropediatrics
2020

Chorioretinal Lacunae in Aicardi's Syndrome: Key for the Diagnosis.

Neuropediatrics
2020

Filamin A-negative hyaline astrocytic inclusions in pediatric patients with intractable epilepsy: report of 2 cases.

Journal of neurosurgery. Pediatrics
2020

Agenesis of the corpus callosum and hepatoblastoma.

American journal of medical genetics. Part A
2020

Yolk Sac Tumors of the Head and Neck in Aicardi Syndrome.

The Annals of otology, rhinology, and laryngology
2019

Rapidly growing, multifocal, benign choroid plexus tumor in an infant: case report.

Journal of neurosurgery. Pediatrics
2019

Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development.

Journal of neurology
2018

Unsolved recognizable patterns of human malformation: Challenges and opportunities.

American journal of medical genetics. Part C, Seminars in medical genetics
2018

An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome.

American journal of medical genetics. Part C, Seminars in medical genetics
2018

Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination.

American journal of medical genetics. Part C, Seminars in medical genetics
2018

Aicardi syndrome in a 20-year-old female.

American journal of ophthalmology case reports
2018

Comorbidities of Rare Epilepsies: Results from the Rare Epilepsy Network.

The Journal of pediatrics
2018

Open-label use of highly purified CBD (Epidiolex®) in patients with CDKL5 deficiency disorder and Aicardi, Dup15q, and Doose syndromes.

Epilepsy &amp; behavior : E&amp;B
2018

Sleep in Children with Congenital Malformations of the Central Nervous System.

Current neurology and neuroscience reports
2018

Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst.

Human mutation
2018

High-dose Chemotherapy is Efficacious and Well Tolerated in a Toddler With Aicardi Syndrome and Malignant Sacrococcygeal Teratoma.

Journal of pediatric hematology/oncology
2018

Adenocarcinoma of Pigmented Ciliary Epithelium in a Child With Aicardi Syndrome and Congenital Microphthalmia With Cyst.

Ophthalmic plastic and reconstructive surgery
2018

Triad of gloom in a girl child: Aicardi syndrome.

Neurology India
2018

Congenital lymphocytic choriomeningitis virus-an underdiagnosed fetal teratogen.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2017

Exploring genome-wide DNA methylation patterns in Aicardi syndrome.

Epigenomics
2017

Foetal Magnetic Resonance Images of Two Cases of Aicardi Syndrome.

Journal of clinical and diagnostic research : JCDR
2017

Autopsy findings in EPG5-related Vici syndrome with antenatal onset.

American journal of medical genetics. Part A
2017

Aicardi syndrome and cognitive abilities: A report of five cases.

Epilepsy &amp; behavior : E&amp;B
2017

[Epileptic encephalopathies in infancy. How do we treat them? Does the aetiology influence the response to treatment?].

Revista de neurologia
2017

Independent variant analysis of TEAD1 and OCEL1 in 38 Aicardi syndrome patients.

Molecular genetics &amp; genomic medicine
2017

Agenesis of the Corpus Callosum and Aicardi Syndrome: A Neuroimaging and Clinical Comparison.

Pediatric neurology
2017

Ocular manifestations in the X-linked intellectual disability syndromes.

Ophthalmic genetics
2016

Aicardi syndrome: epilepsy surgery as a palliative treatment option for selected patients and pathological findings.

Epileptic disorders : international epilepsy journal with videotape
2016

Iris cyst in a child with Aicardi syndrome: a novel association.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2016

Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.

Molecular syndromology
2016

Hyaline Protoplasmic Astrocytopathy:  A Clinicopathologic Study.

American journal of clinical pathology
2016

Late Presentation of Retinoblastoma in a Teen with Aicardi Syndrome.

Ocular oncology and pathology
2016

Aicardi syndrome: when to suspect the unexpected.

Epileptic disorders : international epilepsy journal with videotape
2016

Hyaline protoplasmic astrocytopathy with associated focal cortical dysplasia and hippocampal sclerosis.

Clinical neuropathology
2016

Hyaline protoplasmic astrocytopathy in the setting of tuberous sclerosis.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2016

A clinical study of Aicardi syndrome in Northern Ireland: the spectrum of ophthalmic findings.

Eye (London, England)
2016

[Role of fundus examination in Aicardi syndrome].

Journal francais d'ophtalmologie
2016

[Repeated Anesthesia Management in a Patient with Aicardi Syndrome].

Masui. The Japanese journal of anesthesiology
2016

Goltz syndrome and PORCN: A view from Europe.

American journal of medical genetics. Part C, Seminars in medical genetics
2016

Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.

European journal of medical genetics
2016

In Memoriam: Professor Jean Aicardi (1926-2015).

Pediatric neurology
2015

Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene.

The Turkish journal of pediatrics
2016

Cortical interneuron dysfunction in epilepsy associated with autism spectrum disorders.

Epilepsia
2016

Corpus callosum abnormalities: neuroradiological and clinical correlations.

Developmental medicine and child neurology
2015

Prof. Jean François Marie Aicardi (1926-2015).

Neuropediatrics
2015

Severe CNS involvement in WWOX mutations: Description of five new cases.

American journal of medical genetics. Part A
2015

De novo inbred heterozygous Zeb2/Sip1 mutant mice uniquely generated by germ-line conditional knockout exhibit craniofacial, callosal and behavioral defects associated with Mowat-Wilson syndrome.

Human molecular genetics
2015

[Aicardi syndrome with Dandy-Walker type malformation].

Revista de neurologia
2015

A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome.

Investigative ophthalmology &amp; visual science
2015

Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

American journal of medical genetics. Part A
2015

Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencing.

Brain &amp; development
Ver todos os 226 no EuropePMC

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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. Fetal Neuroimaging in Aicardi Syndrome: A Case Report and Literature Review.
    Cureus· 2026· PMID 41728564mais citado
  2. Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approach.
    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society· 2025· PMID 41389753mais citado
  3. Women With Genetic Epilepsies.
    Neurology. Genetics· 2025· PMID 39944415mais citado
  4. Microphthalmia and Infantile Spasms Leading to the Diagnosis of Aicardi Syndrome: A Case Report and Literature Review of a Rare Entity.
    Cureus· 2025· PMID 41573467mais citado
  5. Aicardi syndrome: Clinical spectrum of a rare disorder.
    Journal of family medicine and primary care· 2025· PMID 40256067mais citado

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:50(Orphanet)
  2. OMIM OMIM:304050(OMIM)
  3. MONDO:0010568(MONDO)
  4. GARD:5764(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. Q403463(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 Aicardi
Compêndio · Raras BR

Síndrome Aicardi

ORPHA:50 · MONDO:0010568
Prevalência
1-9 / 1 000 000
Herança
X-linked dominant
CID-10
Q04.0 · Malformações congênitas do corpo caloso
CID-11
Ensaios
1 ativos
Início
Neonatal
Prevalência
0.0 (United States)
MedGen
UMLS
C0175713
EuropePMC
Wikidata
Wikipedia
Papers 10a
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