Raras
Buscar doenças, sintomas, genes...
Esquizencefalia
ORPHA:799CID-10 · Q04.6CID-11 · LA05.61OMIM 269160DOENÇA RARA

Esquizencefalia é um problema raro na formação do cérebro, presente desde o nascimento. Ela se caracteriza por fendas ou aberturas em forma de linha em um ou nos dois lados do cérebro. Essas fendas se estendem das cavidades internas do cérebro até a sua superfície mais externa, e podem causar vários sintomas neurológicos, como epilepsia, dificuldades para se movimentar e um atraso no desenvolvimento motor e mental.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Esquizencefalia é um problema raro na formação do cérebro, presente desde o nascimento. Ela se caracteriza por fendas ou aberturas em forma de linha em um ou nos dois lados do cérebro. Essas fendas se estendem das cavidades internas do cérebro até a sua superfície mais externa, e podem causar vários sintomas neurológicos, como epilepsia, dificuldades para se movimentar e um atraso no desenvolvimento motor e mental.

Publicações científicas
563 artigos
Último publicado: 2026 Apr 15

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
0.0
Europe
Início
All ages
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q04.6
🇧🇷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

🧠
Neurológico
6 sintomas
👁️
Olhos
1 sintomas

+ 6 sintomas em outras categorias

Características mais comuns

90%prev.
Anormalidade no EEG
Muito frequente (99-80%)
90%prev.
Espasticidade
Muito frequente (99-80%)
90%prev.
Aplasia/Hipoplasia do corpo caloso
Muito frequente (99-80%)
90%prev.
Estrabismo
Muito frequente (99-80%)
90%prev.
Porencefalia
Muito frequente (99-80%)
55%prev.
Deficiência intelectual
Frequente (79-30%)
13sintomas
Muito frequente (5)
Frequente (5)
Sem dados (3)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 13 características clínicas mais associadas, ordenadas por frequência.

Anormalidade no EEGEEG abnormality
Muito frequente (99-80%)90%
EspasticidadeSpasticity
Muito frequente (99-80%)90%
Aplasia/Hipoplasia do corpo calosoAplasia/Hypoplasia of the corpus callosum
Muito frequente (99-80%)90%
EstrabismoStrabismus
Muito frequente (99-80%)90%
PorencefaliaPorencephaly
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico563PubMed
Últimos 10 anos183publicações
Pico202524 papers
Linha do tempo
2026Hoje · 2026🧪 1996Primeiro ensaio clínico📈 2025Ano 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

Genes associados

4 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.

SIX3Homeobox protein SIX3Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Transcriptional regulator which can act as both a transcriptional repressor and activator by binding a ATTA homeodomain core recognition sequence on these target genes. During forebrain development represses WNT1 expression allowing zona limitans intrathalamica formation and thereby ensuring proper anterio-posterior patterning of the diencephalon and formation of the rostral diencephalon. Acts as a direct upstream activator of SHH expression in the rostral diencephalon ventral midline and that i

LOCALIZAÇÃO

Nucleus

MECANISMO DE DOENÇA

Holoprosencephaly 2

A form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. It is a genetically and clinically heterogeneous disorder with a wide spectrum of severity, ranging from alobar holoprosencephaly with severe facial abnormalities, such as cyclopia and proboscis, to mild forms that include lobar or microform holoprosencephaly, without cerebral malformations and with mild craniofacial defects. HPE2 inheritance is autosomal dominant.

EXPRESSÃO TECIDUAL(Tecido-específico)
Brain Nucleus accumbens basal ganglia
52.0 TPM
Pituitária
42.5 TPM
Brain Caudate basal ganglia
41.0 TPM
Brain Putamen basal ganglia
30.8 TPM
Hipotálamo
13.7 TPM
OUTRAS DOENÇAS (8)
holoprosencephaly 2schizencephalyacquired schizencephalyalobar holoprosencephaly
HGNC:10889UniProt:O95343
EMX2Homeobox protein EMX2Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Transcription factor, which in cooperation with EMX1, acts to generate the boundary between the roof and archipallium in the developing brain. May function in combination with OTX1/2 to specify cell fates in the developing central nervous system. In the inner ear, it controls the distribution of GPR156 at hair cell boundaries, and regulates the organization of stereociliary bundles in opposite orientations across the line of polarity reversal (LPR)

LOCALIZAÇÃO

NucleusCell projection, axon

VIAS BIOLÓGICAS (1)
Formation of the nephric duct
MECANISMO DE DOENÇA

Schizencephaly

Extremely rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. These clefts are lined with gray matter and most commonly involve the parasylvian regions. Large portions of the cerebral hemispheres may be absent and replaced by cerebro-spinal fluid.

EXPRESSÃO TECIDUAL(Ubíquo)
Útero
168.5 TPM
Cervix Endocervix
120.6 TPM
Fallopian Tube
97.5 TPM
Cervix Ectocervix
81.4 TPM
Rim - Córtex
33.6 TPM
INTERAÇÕES PROTEICAS (5)
OUTRAS DOENÇAS (2)
schizencephalyacquired schizencephaly
HGNC:3341UniProt:Q04743
SHHSonic hedgehog proteinCandidate gene tested inAltamente restrito
FUNÇÃO

The C-terminal part of the sonic hedgehog protein precursor displays an autoproteolysis and a cholesterol transferase activity (By similarity). Both activities result in the cleavage of the full-length protein into two parts (ShhN and ShhC) followed by the covalent attachment of a cholesterol moiety to the C-terminal of the newly generated ShhN (By similarity). Both activities occur in the endoplasmic reticulum (By similarity). Once cleaved, ShhC is degraded in the endoplasmic reticulum (By simi

LOCALIZAÇÃO

Endoplasmic reticulum membraneGolgi apparatus membraneSecretedCell membrane

VIAS BIOLÓGICAS (5)
Hedgehog 'on' stateActivation of SMOLigand-receptor interactionsRelease of Hh-Np from the secreting cellFormation of lateral plate mesoderm
MECANISMO DE DOENÇA

Microphthalmia/Coloboma 5

A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure).

EXPRESSÃO TECIDUAL(Tecido-específico)
Nervo tibial
21.7 TPM
Glândula adrenal
7.7 TPM
Fígado
7.4 TPM
Estômago
3.8 TPM
Rim - Medula
3.5 TPM
OUTRAS DOENÇAS (15)
microphthalmia, isolated, with coloboma 5holoprosencephaly 3solitary median maxillary central incisor syndrometibia, hypoplasia or aplasia of, with polydactyly
HGNC:10848UniProt:Q15465
COL4A1Collagen alpha-1(IV) chainCandidate gene tested inAltamente restrito
FUNÇÃO

Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen Arresten, comprising the C-terminal NC1 domain, inhibits angiogenesis and tumor formation. The C-terminal half is found to possess the anti-angiogenic activity. Specifically inhibits endothelial cell proliferation, migration and tube formation

LOCALIZAÇÃO

Secreted, extracellular space, extracellular matrix, basement membrane

VIAS BIOLÓGICAS (1)
Collagen degradation
MECANISMO DE DOENÇA

Hereditary angiopathy with nephropathy aneurysms and muscle cramps

The clinical renal manifestations include hematuria and bilateral large cysts. Histologic analysis revealed complex basement membrane defects in kidney and skin. The systemic angiopathy appears to affect both small vessels and large arteries.

OUTRAS DOENÇAS (8)
brain small vessel disease 1 with or without ocular anomaliesautosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndromeretinal arterial tortuositymicroangiopathy and leukoencephalopathy, pontine, autosomal dominant
HGNC:2202UniProt:P02462

Variantes genéticas (ClinVar)

1,148 variantes patogênicas registradas no ClinVar.

🧬 COL4A1: NM_001845.6(COL4A1):c.967G>T (p.Gly323Cys) ()
🧬 COL4A1: NM_001845.6(COL4A1):c.388-2del ()
🧬 COL4A1: GRCh38/hg38 13q31.3-34(chr13:89779269-114338054)x1 ()
🧬 COL4A1: NM_001845.6(COL4A1):c.563G>T (p.Gly188Val) ()
🧬 COL4A1: NM_001845.6(COL4A1):c.878G>C (p.Gly293Ala) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 28 variantes classificadas pelo ClinVar.

7
17
4
Patogênica (25.0%)
VUS (60.7%)
Benigna (14.3%)
VARIANTES MAIS SIGNIFICATIVAS
SHH: NM_000193.4(SHH):c.44C>A (p.Ser15Ter) [Pathogenic]
SHH: NM_000193.4(SHH):c.593G>A (p.Cys198Tyr) [Pathogenic]
COL4A1: NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) [Conflicting classifications of pathogenicity]
COL4A1: NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) [Conflicting classifications of pathogenicity]
SIX3: NM_005413.4(SIX3):c.187GGC[8] (p.Gly69dup) [Conflicting classifications of pathogenicity]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Esquizencefalia

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
183 papers (10 anos)
#1

Predictors of Seizure Development in Septo-optic Dysplasia: A Retrospective Study.

Journal of child neurology2026 Mar 03

ObjectiveTo elucidate factors associated with epilepsy in children with septo-optic dysplasia (SOD).MethodPatients (<21 years) diagnosed with SOD (2013-2023) were identified. Multivariate binomial regression predicted seizures in patients with SOD.ResultsWe identified 107 children (M:F = 46:61) with SOD. Among those, 103 had seizure data. Fifty-two (52/103; 50.5%) experienced seizures. Median age of seizure onset was 9 months (IQR: 4 months -2 years 5 months). Abnormal neurologic examinations were seen in 82.6% with seizures (P = .002). Global developmental delay was noted in 46 (43.0%) and associated with seizures (P = .004). Of 24 patients with autism spectrum disorder, 75% had seizures (P = .01). Ventriculomegaly and schizencephaly were associated with seizures (P = .015, P = .004). No significant associations were found between seizures and SOD diagnostic criteria combinations.InterpretationSeizures are highly prevalent in SOD patients. Diagnostic criteria for SOD do not predict seizures, underscoring the need for comprehensive screening in all SOD patients, irrespective of phenotype.

#2

Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations.

Clinical genetics2026 Feb

Deleterious variants in COL4A2, encoding type IV collagen's alpha-2 chain, cause heterogeneous cerebrovascular and developmental brain malformations. While many dominant variants are known, biallelic changes are rarely reported. We reported two severe cases: Case #1, an aborted fetus with cerebral calcifications, hemorrhages, periventricular leukomalacia, and cerebellar disruption; and Patient #2, a 2-year-old girl with neurodevelopmental impairment, cortical malformations (frontal schizencephaly, polymicrogyria), and reduced white matter volume. Exome sequencing identified a homozygous missense COL4A2 variant in case #1 and compound heterozygous loss-of-function variants (splicing and truncating) in case #2. All variants were rare and predicted to affect protein stability and function in silico. Our cases reinforce the association between biallelic COL4A2 variants and brain small vessel disease, expanding the recessive COL4A2-related phenotype to include cortical malformations.

#3

Paradoxical Ipsilateral Hemiparesis With Thrombectomy Recanalization: DTI Reveals Uncrossed Corticospinal Tract in Adult Schizencephaly.

Neurology2026 Apr 14
#4

Sixteen-Year Interval CT Comparison in Chiari II Malformation After Early Ventriculoperitoneal Shunting: Marked Ventricular Improvement and a Prolonged Seizure-Free Interval.

Cureus2026 Feb

Chiari II malformation is commonly associated with hydrocephalus requiring early cerebrospinal fluid (CSF) diversion and may coexist with complex supratentorial developmental abnormalities. As a result, patients with severe congenital structural brain anomalies and long-term ventriculoperitoneal (VP) shunting often experience neurodevelopmental impairment and are at increased risk of epilepsy. We report a 17-year-old girl with Chiari II malformation, repaired myelomeningocele, and ventriculoperitoneal shunting since birth (revision at five years of age), demonstrating marked ventricular improvement over a 16-year interval and a prolonged seizure-free interval despite severe congenital supratentorial malformations.

#5

A rare case of peri-ocular congenital infiltrating lipomatosis with associated schizencephaly.

Orbit (Amsterdam, Netherlands)2026 Apr

Congenital infiltrating lipomatosis of the face (CILF) is a rare, congenital disorder, characterised by non-encapsulated overgrowth of mature adipose tissue with a propensity to infiltrate the soft tissues of the face and surrounding anatomical spaces. Although benign, the involvement of multiple soft tissue planes, muscles, and bone make complete or near complete surgical excision both challenging and disfiguring. Whilst this condition may present in the early stages of life, the hypertrophic changes are typically progressive, with more significant manifestations being reported in older age groups. Advancements in radiological testing have allowed for more accurate identification of cases with precise management through planned and staged surgical interventions. To the best of our knowledge, this is the first case in the literature to report orbital involvement of CILF with associated intracranial manifestations, in this case, schizencephaly with grey matter heterotopia.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC291 artigos no totalmostrando 179

2026

Paradoxical Ipsilateral Hemiparesis With Thrombectomy Recanalization: DTI Reveals Uncrossed Corticospinal Tract in Adult Schizencephaly.

Neurology
2026

Predictors of Seizure Development in Septo-optic Dysplasia: A Retrospective Study.

Journal of child neurology
2026

Sixteen-Year Interval CT Comparison in Chiari II Malformation After Early Ventriculoperitoneal Shunting: Marked Ventricular Improvement and a Prolonged Seizure-Free Interval.

Cureus
2026

Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations.

Clinical genetics
2025

Rethinking fetal central nervous system anomalies: predicting central nervous system anomalies with corpus callosum to head circumference and occipitofrontal diameter ratios.

BMC pregnancy and childbirth
2025

Dandy-Walker syndrome linked to amelia, genu recurvatum, haemangioma, complex congenital heart defects, schizencephaly, and dyslipidaemia: a case report.

BMC pediatrics
2026

A rare case of peri-ocular congenital infiltrating lipomatosis with associated schizencephaly.

Orbit (Amsterdam, Netherlands)
2025

ECT for Catatonia in Schizencephaly.

The journal of ECT
2025

Complex neurological interplay: adult-onset migraine-triggered seizures in schizencephaly-a case report.

Frontiers in human neuroscience
2025

Hemispherotomy for Drug-Resistant Epilepsy in a Low-Resource Setting: Surgical Outcomes and Quality of Life in 23 Children Treated in a Hybrid Program in Panama.

Pediatric neurosurgery
2025

Early-Onset 15q11.2 Microdeletion Syndrome in a Six-Year-Old Child: A Case Report of Refractory Epilepsy, Autism, and Multisystem Manifestations.

Cureus
2025

Broad Clinical Spectrum of Mosaic Trisomy 2: Report of Two New Cases in Tunisia.

Fetal and pediatric pathology
2025

Schizencephaly in neonates and clinical importance. Cases report.

Boletin medico del Hospital Infantil de Mexico
2025

Epileptic Spasms in Septo-Optic-Pituitary Dysplasia: A Retrospective Cohort Study.

Pediatric neurology
2025

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography.

Developmental medicine and child neurology
2025

A unilateral open-lip schizencephaly in a neonate: A rare case report.

Radiology case reports
2025

Open Lip Schizencephaly Misdiagnosed as Paralytic Poliomyelitis in an 85-Year-Old: A Case Report.

Clinical case reports
2025

Subependymal Gray Matter Heterotopia With Seizure in a 6-Month-Old Child.

Clinical case reports
2025

Unilateral schizencephaly open lip with septo optic dysplasia in adult woman with glaucoma: A rare case.

Radiology case reports
2025

Phenotype and surgical management of drug-resistant epilepsy in patients with COL4A1 and COL4A2 variants.

Epilepsia open
2025

Fetal malformations of cortical development: review and clinical guidance.

Brain : a journal of neurology
2025

Burr Hole Hemispherotomy: Case Series.

Operative neurosurgery (Hagerstown, Md.)
2025

Grey matter hypertropia in a child with recurrent seizure: A case report.

Radiology case reports
2025

Hydrocortisone Attenuates the Development of Malformations of the Polymicrogyria Spectrum.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
2025

Septo-optic dysplasia with associated closed lip schizencephaly: "SOD-plus syndrome".

Acta neurologica Belgica
2024

Undiagnosed Schizencephaly Presenting as Breakthrough Seizures.

Clinical practice and cases in emergency medicine
2024

EROTOMANIC DELUSIONS AND TACTILE HALLUCINATIONS IN A LATE ADOLESCENT GIRL WITH SCHIZENCEPHALY.

Psychiatria Danubina
2025

Exploring the diverse imaging spectrum of Septo-optic dysplasia: A case series.

Radiology case reports
2024

Two-stage surgical intervention for a rare case of intersected nasoethmoidal encephalocele and open-lip schizencephaly in an infant: illustrative case.

Journal of neurosurgery. Case lessons
2025

Ictal sign of the cross: A case report and a short literature review.

Epileptic disorders : international epilepsy journal with videotape
2025

Fetal MRI Findings, Etiology, and Outcome in Prenatally Diagnosed Schizencephaly.

AJNR. American journal of neuroradiology
2024

[Malformations of cortical development: what's new?].

Medicina
2024

Open lip schizencephaly: An unusual cause of hemiparesis: A case report.

Radiology case reports
2024

Frontal lobe closed-lip schizencephaly as an atypical cause of adult-onset seizures.

Radiology case reports
2024

Septo-optic dysplasia plus syndrome in a 2-year-old child: A case report.

Radiology case reports
2024

Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.

American journal of medical genetics. Part C, Seminars in medical genetics
2024

Col4a2 Mutations Contribute to Infantile Epileptic Spasm Syndrome and Neuroinflammation.

International journal of medical sciences
2024

Primary acalvaria with open-lip schizencephaly in indigenous South Papuan surviving newborn: a rare case report.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Rare encounter: Adult-onset temporal lobe schizencephaly with septo-optic dysplasia - a case report on comprehensive diagnosis and management.

Radiology case reports
2024

Schizencephaly Associated With Bipolar Affective Disorder.

Cureus
2024

PAEDIATRIC SYMPTOMATIC SEIZURES IN INDIA: UNRAVELLING VARIED ETIOLOGIES AND NEUROIMAGING PATTERNS - A MULTICENTRIC STUDY.

Georgian medical news
2024

Expanding Ventricular Diverticulum Overlying the Cerebral Hemisphere through an Open-Lip Schizencephalic Cleft: A Report of Two Pediatric Cases.

Pediatric neurosurgery
2024

[Congenital malformations of the brain misinterpreted as sequelae of poliomyelitis].

Zeitschrift fur Gerontologie und Geriatrie
2024

Potential risks associated with laparoscopic gastrostomy in patients with the COL4A1 variant: Two case reports.

Asian journal of endoscopic surgery
2023

Incidental Open-Lip Type Schizencephaly in a Patient with Severe Traumatic Brain Injury.

Neurology India
2024

Newly diagnosed Parkinson's disease in a middle-aged cerebral palsy patient with schizencephaly.

Acta neurologica Belgica
2023

Schizencephaly: A rare cause of late-onset epilepsy in an adult.

Radiology case reports
2023

Spectrum of Fetal Intraparenchymal Hemorrhage in COL4A1/A2-Related Disorders.

Pediatric neurology
2023

Intracranial arachnoid cysts.

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

Septo-optic dysplasia PLUS syndrome in a 23 years old patient: A case report.

Radiology case reports
2023

A case of closedlip schizencephaly with absent septum pellucidum in an adult presenting with seizure disorder.

Clinical case reports
2023

Vascular anomaly, lipoma, and polymicrogyria associated with schizencephaly: developmental and diagnostic insights. Illustrative case.

Journal of neurosurgery. Case lessons
2023

Schizencephaly diagnosed after an episode of seizure during labor: A case report.

Clinical case reports
2023

Role of Fetal Magnetic Resonance Imaging in Differentiating Isolated Septal Agenesis from Septo-Optic Dysplasia: Case Study and Review.

Fetal diagnosis and therapy
2023

[Clinical and functional disturbances in epilepsy patients with schizencephaly].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2023

Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.

Molecular neurobiology
2022

A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria.

Genes
2022

Encephalocraniocutaneous Lipomatosis: A Case Report and Literature Review.

Cureus
2023

Stereo-EEG for Epileptogenic Focus Localization in Schizencephaly: A Single-center Experience in Four Patients.

World neurosurgery
2022

Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes.

Molecular syndromology
2022

Schizencephaly in Hereditary Hemorrhagic Telangiectasia.

AJNR. American journal of neuroradiology
2022

Delineating septo-optic dysplasia.

Birth defects research
2022

Imaging of Congenital Malformations of the Brain.

Clinics in perinatology
2022

Schizencephaly as an Unusual Cause of Adult-Onset Epilepsy: A Case Report.

Cureus
2022

[Septo optic dysplasia plus: about a case].

The Pan African medical journal
2022

Altered excitatory and inhibitory neocortical circuitry leads to increased convulsive severity after pentylenetetrazol injection in an animal model of schizencephaly, but not of microgyria.

Epilepsia open
2022

Hypothesis: By-products of vascular disruption carried in the CSF affect prenatal brain development.

Birth defects research
2022

Neurological outcome in WDR62 primary microcephaly.

Developmental medicine and child neurology
2022

Sudden Unexpected Death in Epilepsy: A Report of Three Commonly Encountered Anatomic Findings in the Forensic Setting With Recommendations for Best Practices.

The American journal of forensic medicine and pathology
2022

Schizencephaly and the Neurodevelopmental Model of Psychosis.

Neurology India
2022

Cleft size and type are associated with development of epilepsy and poor seizure control in patients with schizencephaly.

Seizure
2022

Bilateral open lip schizencephaly.

Annals of medicine and surgery (2012)
2022

Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development.

JIMD reports
2021

Neurodevelopmental Findings and Epilepsy in Malformations of Cortical Development.

Turkish archives of pediatrics
2021

Traumatic epidural hematoma in a patient with severe schizencephaly.

Clinical case reports
2022

Magnetic Resonance Imaging of Malformations of Cortical Development-A Comprehensive Review.

World neurosurgery
2021

Teenage Neurologic Manifestation of a Complex Brain Malformation Consisting of Gray Matter Heterotopia, Schizencephaly and Absent Septum Pellucidum.

Journal of the Belgian Society of Radiology
2021

Motor Organization in Schizencephaly: Outcomes of Transcranial Magnetic Stimulation and Diffusion Tensor Imaging of Motor Tract Projections Correlate with the Different Domains of Hand Function.

BioMed research international
2021

Malformations of Cortical Development, Cognitive Involvementand Epilepsy: A Single Institution Experience in 19 Young Patients.

Children (Basel, Switzerland)
2021

Two Novel HSD17B4 Heterozygous Mutations in Association With D-Bifunctional Protein Deficiency: A Case Report and Literature Review.

Frontiers in pediatrics
2021

Progressive cerebral atrophies in three children with COL4A1 mutations.

Brain &amp; development
2021

Super-refractory status epilepticus in a pregnant woman with schizencephaly.

Epileptic disorders : international epilepsy journal with videotape
2021

A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation.

Frontiers in genetics
2022

Porencephaly causing limb size asymmetry.

Acta neurologica Belgica
2021

Novel COL4A2 mutation causing familial malformations of cortical development.

European review for medical and pharmacological sciences
2021

Brain and Placental Pathology in Fetal COL4A1 Related Disease.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2021

Intermittent photic stimulation triggering a temporal lobe seizure in a patient with schizencephaly and pachygyria.

Epilepsy &amp; behavior reports
2021

Excitatory/Inhibitory Synaptic Ratios in Polymicrogyria and Down Syndrome Help Explain Epileptogenesis in Malformations.

Pediatric neurology
2020

A Rare Case of an Infant with Left Hemiparesis: A Case Report of Bilateral Open-lip Schizencephaly.

Malaysian family physician : the official journal of the Academy of Family Physicians of Malaysia
2020

Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations.

Human genome variation
2021

The spectrum of brain malformations and disruptions in twins.

American journal of medical genetics. Part A
2021

Neuroimaging manifestations and genetic heterogeneity of Walker-Warburg syndrome in Saudi patients.

Brain &amp; development
2020

Absent Cavum Septi Pellucidi.

American journal of obstetrics and gynecology
2021

Fetal brain small vessel disease 1 caused by a novel mutation in the COL4A1 gene.

Pediatric radiology
2020

Dissociative Language Representation in a Patient with Schizencephaly.

European neurology
2022

Pseudo-Roberts Syndrome: An Entity or Not?

Fetal and pediatric pathology
2021

Review of the MRI brain findings of septo-optic dysplasia.

Clinical radiology
2020

Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay.

Frontiers in pediatrics
2020

Unilateral right closed-lip schizencephaly.

BMJ case reports
2020

An Unusual, Intermediate-Sized Lesion Affecting Motor Organization in a Patient With Schizencephaly: A Case Report.

Frontiers in human neuroscience
2020

Prenatal cranial MR findings in fetuses with suspected CMV infection: Correlation with postnatal outcome and differential diagnostic considerations.

Journal of medical imaging and radiation oncology
2021

Prenatal clinical manifestations in individuals with COL4A1/2 variants.

Journal of medical genetics
2020

Epilepsy in paediatric patients with schizencephaly.

Annals of agricultural and environmental medicine : AAEM
2021

Prevalence of COL4A1 and COL4A2 mutations in severe fetal multifocal hemorrhagic and/or ischemic cerebral lesions.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2020

Neuroimaging of septo-optic dysplasia-plus with midbrain hypoplasia and ophthalmoplegia.

eNeurologicalSci
2020

Adult-Onset Seizure Disorder Secondary to Schizencephaly.

Asian journal of neurosurgery
2020

Agenesis of the septum pellucidum: Prenatal diagnosis and outcome.

Prenatal diagnosis
2019

Unilateral Open-lip Schizencephaly with Tonsillar Herniation in a Preterm Infant.

Journal of pediatric neurosciences
2020

A journey through formation and malformations of the neo-cortex.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2020

Inborn errors of metabolism leading to neuronal migration defects.

Journal of inherited metabolic disease
2019

Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3.

Frontiers in cellular neuroscience
2020

Persistent falcine sinus with temporo-occipital schizencephaly: case report with a review of literature in relation to the undeveloped vein of Galen and/or straight sinus.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2018

SCREENING OF PROP-1, LHX2 AND POU1F1 MUTATIONS IN PATIENTS WITH ECTOPIC POSTERIOR PITUITARY GLAND.

Acta endocrinologica (Bucharest, Romania : 2005)
2019

Schizencephaly accompanied by occipital encephalocele and deletion of chromosome 22q13.32: a case report.

Fetal and pediatric pathology
2019

Malignant Hyperthermia and Cerebral Venous Sinus Thrombosis After Ventriculoperitoneal Shunt in Infant with Schizencephaly and COL4A1 Mutation.

World neurosurgery
2019

Cortical malformations and COL4A1 mutation: Three new cases.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2018

Septo-optic Dysplasia Plus Syndrome.

Cureus
2018

Frontoethmoidal encephalocele presenting in concert with schizencephaly.

Surgical neurology international
2018

Schizencephaly: A Review of 734 Patients.

Pediatric neurology
2018

Fetal stroke and cerebrovascular disease: Advances in understanding from lenticulostriate and venous imaging, alloimmune thrombocytopaenia and monochorionic twins.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2018

Incongruent hemiatrophy and hemiparkinsonism in a patient with schizencephaly.

Clinical neurology and neurosurgery
2019

Increased Sylvian fissure angle as early sonographic sign of malformation of cortical development.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2018

Further refinement of COL4A1 and COL4A2 related cortical malformations.

European journal of medical genetics
2018

A Patient with Schizencephaly and Agenesis of Corpus Callosum with No Neurological Deficits.

Journal of neurosciences in rural practice
2018

Schizencephaly revisited.

Neuroradiology
2019

A rare case of super-refractory epileptic status in pregnant woman: Schizencephaly.

Anaesthesia, critical care &amp; pain medicine
2019

Latent Schizencephaly With Psychotic Phenotype or Schizophrenia With Schizencephaly? A Case Report and Review of the Literature.

Clinical EEG and neuroscience
2018

[Disorders of migration and gyration].

Der Radiologe
2018

Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly.

Human genome variation
2019

Septo-optic Dysplasia : Assessment of Associated Findings with Special Attention to the Olfactory Sulci and Tracts.

Clinical neuroradiology
2017

Schizencephaly and Porencephaly Due to Fetal Intracranial Hemorrhage: A Report of Two Cases.

Yonago acta medica
2018

Schizencephaly in children: A single medical center retrospective study.

Pediatrics and neonatology
2017

A rare case of schizencephaly in an adult with late presentation.

Journal of family medicine and primary care
2018

Neuronal Migration Disorders.

Radiologic technology
2018

COL4A1 and fetal vascular origins of schizencephaly.

Neurology
2017

Stereoelectroencephalography and surgical outcome in polymicrogyria-related epilepsy: A multicentric study.

Annals of neurology
2017

Application of array comparative genomic hybridization in Korean children under 6 years old with global developmental delay.

Korean journal of pediatrics
2017

HYDROCEPHALY, SCHIZENCEPHALY, SPONDYLOCOSTAL DYSPLASIA, AND HYPOPARATHYROIDISM IN AN INFANT OF A DIABETIC MOTHER.

Acta endocrinologica (Bucharest, Romania : 2005)
2017

Prenatal and postnatal evaluation of polymicrogyria with band heterotopia.

Radiology case reports
2017

Functional brain neuroimaging-guided repetitive transcranial magnetic stimulation in neurodevelopmental disorders: The case of a schizencephaly-related spastic dystonia.

Journal of the neurological sciences
2017

Growth and Psychological Development in Postoperative Patients With Anterior Encephaloceles.

Pediatric neurology
2017

Clinical and Radiologic Spectrum of Septo-optic Dysplasia: Review of 17 Cases.

Journal of child neurology
2017

Imaging of Laser Therapy in Epilepsy.

Journal of neuroimaging : official journal of the American Society of Neuroimaging
2017

Severe Neurologic Disorders in 2 Fetuses with Zika Virus Infection, Colombia.

Emerging infectious diseases
2017

Recurrence of Epileptic Spasms as Reflex Seizures Induced by Eating: A Case Report and Literature Review.

Neuropediatrics
2017

Teaching NeuroImages: Homotopic motor distribution on fMRI in closed-lip schizencephaly.

Neurology
2017

A severe pulmonary complication in a patient with COL4A1-related disorder: A case report.

European journal of medical genetics
2016

Fetal Central Nervous System Anomalies Detected by Magnetic Resonance Imaging: A Two-Year Experience.

Iranian journal of pediatrics
2017

New-Onset Seizure Associated With Schizencephaly.

The Journal of emergency medicine
2017

Tadpole-shaped lateralized parietal atretic cephalocele associated with an ipsilateral lacrimal gland fistula and schizencephalic clefts.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2016

Cortical Clefts and Cortical Bumps: A Continuous Spectrum.

Journal of clinical and diagnostic research : JCDR
2016

Bilateral giant open-lip schizencephaly: A rare case report.

Journal of pediatric neurosciences
2016

Telencephalic Flexure and Malformations of the Lateral Cerebral (Sylvian) Fissure.

Pediatric neurology
2016

Successful hemispherotomy for a patient with intractable epilepsy secondary to bilateral congenital brain malformation with lateralized pyramidal tract of diffusion tensor image tractography.

Epilepsy &amp; behavior case reports
2017

The pathology of incipient polymicrogyria.

Brain &amp; development
2017

Contactin-associated protein-like (CNTNAP) 2 gene mutation in a patient with bilateral schizencephaly.

Acta neurologica Belgica
2016

"Quartered cerebrum": Bilateral schizencephaly with partial agenesis of corpus callosum.

Neurology India
2016

Schizencephaly: A case report and review of literature.

The Nigerian postgraduate medical journal
2016

Scalp Arteriovenous Malformation with Concomitant, Flow-Dependent Malformation and Aneurysm.

World neurosurgery
2016

Successful surgery for refractory seizures associated with bilateral schizencephaly: two case reports and literature review.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2016

Right Homonymous Hemianopia: A Clinical Case Report of Schizencephaly.

Case reports in ophthalmology
2016

Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection.

Birth defects research. Part A, Clinical and molecular teratology
2016

Astrocyte membrane properties are altered in a rat model of developmental cortical malformation but single-cell astrocytic glutamate uptake is robust.

Neurobiology of disease
2016

Epileptic spasms in clusters with focal EEG paroxysms: A study of 12 patients.

Seizure
2015

Prenatal diagnosis of chromosome 8p23.1 microdeletion by array comparative genomic hybridization using uncultured amniocytes in a pregnancy associated with fetal partial corpus callosum agenesis and schizencephaly.

Taiwanese journal of obstetrics &amp; gynecology
2016

Surgical management of medically refractory epilepsy in patients with polymicrogyria.

Epilepsia
2015

Intracranial sonographic features demonstrating in utero development of hemorrhagic brain damage leading to schizencephaly-associated COL4A1 mutation.

Journal of medical ultrasonics (2001)
2015

ERRATA: Intracranial Hemorrhage and Tortuosity of Veins Detected on Susceptibility-weighted Imaging of a Child with a Type IV Collagen α1 Mutation and Schizencephaly.

Magnetic resonance in medical sciences : MRMS : an official journal of Japan Society of Magnetic Resonance in Medicine
2016

Neuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan.

Pediatric neurology
2015

Malformations of cortical development: 3T magnetic resonance imaging features.

World journal of radiology
2015

[Scintigraphic imaging in the diagnosis of failed intrathecal baclofen therapy: a case report of a 7-year-old boy with ventriculoperitoneal shunt].

No to hattatsu = Brain and development
2015

Botulinum toxin A injection of UES in schizencephaly with dysphagia: Case report.

International journal of pediatric otorhinolaryngology
2015

Central nervous system injury in utero: selected entities.

Pediatric radiology
2015

Schizencephaly associated psychosis.

Asian journal of psychiatry
2016

Models of cortical malformation--Chemical and physical.

Journal of neuroscience methods
2015

Schizencephaly: Dramatic Images in a Normally Functioning Adult.

PM &amp; R : the journal of injury, function, and rehabilitation
2015

Clinical Profile of Children with Malformations of Cortical Development.

Indian journal of pediatrics
2015

Schizencephaly-diagnostics and clinical dilemmas.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2014

Clinical and morphological aspects of gray matter heterotopia type developmental malformations.

Polish journal of radiology
Ver todos os 291 no EuropePMC

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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Predictors of Seizure Development in Septo-optic Dysplasia: A Retrospective Study.
    Journal of child neurology· 2026· PMID 41773577mais citado
  2. Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations.
    Clinical genetics· 2026· PMID 41499643mais citado
  3. Paradoxical Ipsilateral Hemiparesis With Thrombectomy Recanalization: DTI Reveals Uncrossed Corticospinal Tract in Adult Schizencephaly.
    Neurology· 2026· PMID 41855456mais citado
  4. Sixteen-Year Interval CT Comparison in Chiari II Malformation After Early Ventriculoperitoneal Shunting: Marked Ventricular Improvement and a Prolonged Seizure-Free Interval.
    Cureus· 2026· PMID 41635566mais citado
  5. A rare case of peri-ocular congenital infiltrating lipomatosis with associated schizencephaly.
    Orbit (Amsterdam, Netherlands)· 2026· PMID 41348555mais citado
  6. Morphological patterns of fetal lateral ventricular border irregularities: descriptive study.
    Ultrasound Obstet Gynecol· 2026· PMID 41987549recente
  7. Malformations of Cortical Development.
    Neuroimaging Clin N Am· 2026· PMID 41932774recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:799(Orphanet)
  2. OMIM OMIM:269160(OMIM)
  3. MONDO:0010011(MONDO)
  4. GARD:166(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. Q1457267(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

Esquizencefalia
Compêndio · Raras BR

Esquizencefalia

ORPHA:799 · MONDO:0010011
Prevalência
Unknown
Herança
Autosomal dominant, Autosomal recessive
CID-10
Q04.6 · Cistos cerebrais congênitos
CID-11
Início
All ages
Prevalência
0.0 (Europe)
MedGen
UMLS
C0266484
EuropePMC
Wikidata
Wikipedia
Papers 10a
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