Raras
Buscar doenças, sintomas, genes...
Exencefalia isolada
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Introdução

O que você precisa saber de cara

📋

A exencefalia é um tipo de distúrbio cefálico no qual o cérebro está localizado fora do crânio. Essa condição é geralmente encontrada em embriões como um estágio inicial da anencefalia. À medida que uma gravidez exencefálica progride, o tecido neural degenera gradualmente.

🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q00.0
🇧🇷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

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

+ 5 sintomas em outras categorias

Características mais comuns

55%prev.
Morfologia anormal do cérebro
Frequente (79-30%)
55%prev.
Proptose
Frequente (79-30%)
55%prev.
Polidrâmnio
Frequente (79-30%)
55%prev.
Holoprosencefalia
Frequente (79-30%)
55%prev.
Aplasia/Hipoplasia do cerebelo
Frequente (79-30%)
55%prev.
Agenesia do corpo caloso
Frequente (79-30%)
16sintomas
Frequente (9)
Ocasional (7)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 16 características clínicas mais associadas, ordenadas por frequência.

Morfologia anormal do cérebroAbnormality of brain morphology
Frequente (79-30%)55%
ProptoseProptosis
Frequente (79-30%)55%
PolidrâmnioPolyhydramnios
Frequente (79-30%)55%
HoloprosencefaliaHoloprosencephaly
Frequente (79-30%)55%
Aplasia/Hipoplasia do cerebeloAplasia/Hypoplasia of the cerebellum
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202039 papers
Linha do tempo
2026Hoje · 2026📈 2020Ano 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

2 genes identificados com associação a esta condição.

VANGL2Vang-like protein 2Major susceptibility factor inAltamente restrito
FUNÇÃO

Involved in the control of early morphogenesis and patterning of both axial midline structures and the development of neural plate. Plays a role in the regulation of planar cell polarity, particularly in the orientation of stereociliary bundles in the cochlea. Required for polarization and movement of myocardializing cells in the outflow tract and seems to act via RHOA signaling to regulate this process. Required for cell surface localization of FZD3 and FZD6 in the inner ear (By similarity)

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (5)
Asymmetric localization of PCP proteinsPCP/CE pathwayRND1 GTPase cycleRND3 GTPase cycleRND2 GTPase cycle
MECANISMO DE DOENÇA

Neural tube defects

Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components.

EXPRESSÃO TECIDUAL(Ubíquo)
Skin Not Sun Exposed Suprapubic
50.4 TPM
Skin Sun Exposed Lower leg
43.2 TPM
Cérebro - Hemisfério cerebelar
30.7 TPM
Cerebelo
28.9 TPM
Vagina
28.4 TPM
OUTRAS DOENÇAS (3)
neural tube defects, susceptibility toisolated exencephalyisolated anencephaly
HGNC:15511UniProt:Q9ULK5
MTHFRMethylenetetrahydrofolate reductase (NADPH)Major susceptibility factor inTolerante
FUNÇÃO

Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine (PubMed:29891918). Represents a key regulatory connection between the folate and methionine cycles (Probable)

LOCALIZAÇÃO

VIAS BIOLÓGICAS (1)
Metabolism of folate and pterines
MECANISMO DE DOENÇA

Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity

An autosomal recessive inborn error of folate metabolism. Clinical severity is variable, ranging from severe neurologic features to absence of symptoms. Clinical features include homocysteinuria, homocysteinemia, developmental delay, severe intellectual disability, perinatal death, psychiatric disturbances, and later-onset neurodegenerative disorders.

EXPRESSÃO TECIDUAL(Ubíquo)
Ovário
25.6 TPM
Nervo tibial
24.0 TPM
Pulmão
21.5 TPM
Baço
21.4 TPM
Tireoide
20.6 TPM
OUTRAS DOENÇAS (6)
homocystinuria due to methylene tetrahydrofolate reductase deficiencyisolated anencephalyisolated exencephalyneural tube defects, folate-sensitive
HGNC:7436UniProt:P42898

Variantes genéticas (ClinVar)

313 variantes patogênicas registradas no ClinVar.

🧬 MTHFR: NM_005957.5(MTHFR):c.919C>T (p.Gln307Ter) ()
🧬 MTHFR: NM_005957.5(MTHFR):c.1603C>G (p.Arg535Gly) ()
🧬 MTHFR: NM_005957.5(MTHFR):c.799C>T (p.Gln267Ter) ()
🧬 MTHFR: NM_005957.5(MTHFR):c.200C>T (p.Pro67Leu) ()
🧬 MTHFR: NM_005957.5(MTHFR):c.1844ACT[1] (p.Tyr616del) ()
Ver todas no ClinVar

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 — Exencefalia isolada

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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

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Publicações mais relevantes

🥉Melhor nível de evidência: Relato de caso
Timeline de publicações
0 papers (10 anos)
#1

Effect of Maternal Hyperglycemia on Cortical Neuronal Migration: Hypofunction of Reelin Signaling.

Journal of integrative neuroscience2026 Jan 23

Maternal diabetes increases the risk of neurodevelopmental alterations in the offspring, yet the molecular links to early corticogenesis remain unclear. During corticogenesis, radial migration is a coordinated process regulated by Reelin signaling and its disruption has been associated with abnormal cortical patterning. We reanalyze dorsal telencephalon transcriptomes from embryonic day 12 (E12) non-neural tube-defect rat embryos to identify canonical pathways perturbed by maternal hyperglycemia. Gene expression profiles from the dorsal prosencephalon at E12 from control and streptozotocin-treated dams (50 mg/kg at E5.5) were interrogated with Ingenuity Pathway Analysis (IPA). We then assessed Reelin pathway components using quantitative reverse transcription polymerase chain reaction (RT-qPCR), immunohistochemistry, and immunoblotting at E12 and E16, and examined postnatal cytoarchitecture/morphology in the primary motor cortex (M1) at postnatal day zero (P0) and P21 using hematoxylin-eosin and Golgi-Cox staining. All analyses excluded embryos with neural tube defects (NTD) to avoid cofounding by gross malformations. IPA revealed Reelin signaling in neurons as the only canonical pathway with a non-zero activation z-score, predicting inhibition in E12 embryos from diabetic rats. Concordantly, protein levels of Reelin (RELN), apolipoprotein E receptor 2/low-density lipoprotein receptor-related protein 8 (ApoER2/LRP8), very low-density lipoprotein receptor (VLDLR), and Disabled Homolog 1 (DAB1) were reduced at E12/E16 (all p < 0.05). N-cadherin (N-CAD) showed disrupted radial localization along the ventricular-pial axis despite unchanged total abundance, consistent with impaired neuron-radial glia adhesion/polarity. Postnatally, the M1 showed increased layer I cellularity, ectopic pyramidal neurons, and aberrant laminar organization. Maternal hyperglycemia is associated with attenuation of the Reelin signaling pathway and N-CAD mislocalization, providing a mechanistic framework for defective neuronal migration and abnormal lamination that persist into early postnatal life. Focusing on NTD-negative embryos isolates the pathway-specific effects of maternal hyperglycemia and nominates Reelin-pathway hypofunction as a candidate driver of altered fetal cortical patterning.

#2

Diagnostic Yield of Post-Mortem Fetal Micro-CT for Central Nervous System Abnormalities.

Prenatal diagnosis2026 Mar 06

This study demonstrates the central nervous system (CNS) abnormalities detected using fetal post-mortem micro-focus computed tomography (Micro-CT), independent of whether the abnormality contributed to the main diagnosis or cause of death. We retrospectively analyzed 1200 whole body post-mortem fetal Micro-CT scans in an unselected consecutive cohort between 2017 and 2024. The following categories for CNS abnormalities were used: enlarged cerebral spinal fluid (CSF) spaces, midline abnormalities, neural tube defects, disorders of neuronal proliferation, neuronal migration, and hindbrain development, and other cranial and facial abnormalities. Overall, 78 individual CNS abnormalities were identified in 62/1200 (5.2%) fetuses. The most common CNS abnormalities were neural tube defects (18/78; 23.1%), ventriculomegaly (16/78; 20.5%), and intracranial hemorrhage (12/78; 15.4%). CNS abnormalities were isolated findings in 27/62 (44%) abnormal cases, and part of a wider spectrum of extra-CNS abnormalities in 35/62 (56%) of cases. The commonest extra-CNS association was musculoskeletal (25/59; 42%). Despite significant maceration causing reduced image quality in 408/1200 (34%) cases, Micro-CT gave diagnostic CNS imaging in all 792/1200 (66%) fetuses with low, mild, or moderate maceration (score below 4). Post-mortem Micro-CT imaging can identify a wide range of CNS abnormalities following pregnancy loss in early gestation fetuses, even in the presence of maceration.

#3

Integrating Mathematics into Prenatal Diagnosis-Different Phenotypes of Complex Ventral Wall Malformations Determined by Hierarchical Clustering.

Journal of clinical medicine2026 Feb 08

Background/Objectives: To identify distinct sonographic phenotypes of complex malformations of the fetal ventral wall. Methods: We performed a retrospective analysis of ultrasound reports from 160 fetuses diagnosed with complex ventral wall defects at a single tertiary referral center between 1997 and 2021. Agglomerative hierarchical clustering was applied to identify distinct sonographic phenotypes based on the level of the ventral wall defect and associated anomalies. Results: Ventral wall defects involved the abdominal wall in 150 cases, the thoracic wall in 42 cases, and the pelvic wall in 28 cases, either in isolation or in combination. Open neural tube defects were present in 58 fetuses (36.3%), spinal defects in 110 fetuses (68.8%), and limb anomalies in 45 fetuses (28.1%). Additional anomalies were identified in 38 fetuses (23.8%), including cardiac anomalies in 18 cases (11.3%). Amniotic bands were observed in seven cases (4.4%). Using agglomerative hierarchical clustering, five groups of fetuses with differing numbers of observations were identified (cluster 1, n = 104; cluster 2, n = 5; cluster 3, n = 30; cluster 4, n = 10; cluster 5, n = 11). The silhouette score of the clustering model was 0.3285. The most discriminative features for each cluster, expressed as feature importance values, were as follows: kyphoscoliosis for cluster 1 (0.924), pelvic wall defect for cluster 2 (0.852), ectopia cordis for cluster 3 (0.662), limb anomalies for cluster 4 (0.767), and spina bifida for cluster 5 (0.691). Conclusions: Complex malformations of the fetal ventral wall are associated with a wide spectrum of additional anomalies. Hierarchical clustering identified five distinct sonographic phenotypes of complex ventral wall defects, highlighting the heterogeneity of these conditions.

#4

Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype-Specific Analysis.

Prenatal diagnosis2026 Feb 19

To explore potential genetic contributors across different subtypes of isolated neural tube defects (NTDs) - acrania-exencephaly-anencephaly sequence (AEAS), spinal dysraphism, and encephalocele - using exome sequencing (ES) in a prenatal cohort, with the goal of gaining insight into the molecular diversity underlying these distinct phenotypes. We retrospectively reviewed all fetuses diagnosed prenatally with isolated NTDs at Tel Aviv Sourasky Medical Center between September 2020 and July 2025. Detailed anatomical ultrasound excluded additional malformations. Chromosomal microarray (CMA) and trio-based ES were performed using standard protocols. Variant interpretation followed ACMG/AMP guidelines, integrating phenotypic concordance via Human Phenotype Ontology (HPO) terms. The cohort comprised 23 fetuses: 10 with AEAS (9 acrania, 1 exencephaly), 8 with spinal dysraphism (5 myelomeningocele, 3 meningocele), and 5 with encephalocele. Across the cohort, exome sequencing yielded pathogenic or likely pathogenic variants in 26% (6/23) of cases and a variant of uncertain significance in 4% (1/23). Detection rates varied by subtype, highest in encephalocele (60%), followed by spinal dysraphism (25%) and AEAS (20%). However, these findings reflect diagnostic associations rather than definitive causal relationships. Identified genes included PPP1R12A, ARHGAP35, PIEZO2, KIAA0586, TSC2, and CLCN7, representing diverse pathways in cytoskeletal organization, ciliary function, mechanotransduction, and mTOR signaling. Notably, recurrent PPP1R12A variants were found in 2 fetuses: one with AEAS and one with encephalocele, suggesting a shared morphogenetic pathway affecting cranial fold formation and mesenchymal remodeling. Our findings indicate that these distinct types of NTD, namely AEAS, spinal dysraphism, and encephalocele, may represent partially divergent embryologic and genetic entities rather than a single phenotypic continuum. Subtype-specific analysis revealed differing molecular patterns, emphasizing the value of trio-based ES in elucidating the etiology of isolated NTDs. Larger studies are needed to refine detection rates and expand our understanding of the genetic architecture underlying these distinct malformations.

#5

Mortality Through 2021 Among Persons Born With Spina Bifida in Metropolitan Atlanta, 1981-2018.

Birth defects research2026 Feb

Information on prevalence, predictors, and causes of mortality is sparse among persons born with spina bifida (SB), especially adults over age 25 years. Individuals with SB born in 1981-2018 were identified in surveillance data from the Metropolitan Atlanta Congenital Defects Program, an active population-based birth defects surveillance system, and linked with Georgia death certificates (1981-2021). Survival probability was assessed using Kaplan-Meier curves. Selected factors were examined using Cox proportional hazards regression, estimating crude (cHR) and adjusted hazards ratios (aHR) and 95% confidence intervals (CIs). Of 458 infants born with SB, 341 met eligibility criteria; 18% (n = 61) died. The overall 25-year and 35-year survival probabilities were 82% and 75%, respectively. Survival improved between 1981-1999 and 2000-2018 for individuals with isolated SB (p < 0.05), but not for those with multiple defects (p = 0.41). Preterm birth (aHR = 2.28; 95% CI = 1.32, 3.95), having multiple major birth defects (aHR = 2.07; 95% CI = 1.04, 4.13), or upper-level spinal lesion (aHR = 3.86; 95% CI = 2.23, 6.69) was associated with increased mortality risk. SB was often listed as the cause of death, even among adults; respiratory and cardiovascular conditions and infections were other commonly listed causes for mortality after infancy. Survival for individuals with isolated SB improved over time; further improvements might be achieved by targeting age-specific risk factors in clinical and public health settings.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 196

2026

Diagnostic Yield of Post-Mortem Fetal Micro-CT for Central Nervous System Abnormalities.

Prenatal diagnosis
2026

Integrating Mathematics into Prenatal Diagnosis-Different Phenotypes of Complex Ventral Wall Malformations Determined by Hierarchical Clustering.

Journal of clinical medicine
2026

Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype-Specific Analysis.

Prenatal diagnosis
2026

Mortality Through 2021 Among Persons Born With Spina Bifida in Metropolitan Atlanta, 1981-2018.

Birth defects research
2026

Cerebrospinal fluid matrix-remodeling biomarkers in neonates with myelomeningocele: MMP-9, TIMP-1, and TGF-β1 expression.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2026

Effect of Maternal Hyperglycemia on Cortical Neuronal Migration: Hypofunction of Reelin Signaling.

Journal of integrative neuroscience
2025

Subpial cerebellar tonsillectomy for decompression of the cervicomedullary junction in children and young adults.

Journal of neurosurgery. Pediatrics
2025

Birth prevalence and parental stress associated with neural tube defects in Amhara's public comprehensive specialized hospitals, Ethiopia, 2024.

PloS one
2025

Paediatric isolated foot drop-a rare presentation of Chiari 1 malformation with holocord syrinx (case report and the review of literature).

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

FGFR1 Tyrosine Kinase Domain Variant p.Val561Met in Caudal Dysraphism: A Case Report.

Birth defects research
2025

Management of Prenatally Diagnosed Malformations of the Central Nervous System: Factors Influencing Decision-making and the Time of Termination of Pregnancy.

Geburtshilfe und Frauenheilkunde
2025

Maternal and Placental Inflammation Influence Formation of Neural Tube Defects in Quaternary Ammonium Compound Exposed Mice.

Birth defects research
2025

Epidemiological insights into neural tube and orofacial malformations in Chile using data from the National Registry of Congenital Anomalies (RENACH).

BMC pediatrics
2025

Redefining Chiari Malformation Type III: a systematic review of prognostic stratification based on a three-tier MRI-based anatomical classification.

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

Gene-by-Environment Interactions Involving Maternal Exposures with Orofacial Cleft Risk in Filipinos.

Genes
2025

Evaluation of NOS3 894G>T (p.Glu298Asp) Variant as Risk Factor for Open Neural Tube Defects in Infants from Western Mexico.

Genetic testing and molecular biomarkers
2025

Prenatal diagnosis of chiari type 1 malformation.

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

Perceptions of Social Functioning Among Adolescents Aged 12-14 with Spina Bifida and Their Parents.

Comprehensive child and adolescent nursing
2025

Isolation and characterization of human cKIT positive amniotic fluid stem cells obtained from pregnancies with spina bifida.

Scientific reports
2025

[Limited dorsal myeloschisis: From antenatal screening to postnatal evolution. About a series of cases from the Grand Est, Bourgogne and Franche-Comté].

Gynecologie, obstetrique, fertilite &amp; senologie
2025

Chromosomal Microarray Analysis in Spina Bifida: Genetic Heterogeneity and Its Clinical Implications.

Journal of Indian Association of Pediatric Surgeons
2025

Clinical Outcome and Risk Factors for Progression of Prenatally Diagnosed Fetal Ventriculomegaly: A Retrospective Multicenter Study.

Prenatal diagnosis
2025

NOTCH3 -Related Lateral Meningocele Syndrome Presenting as Radiological Copenhagen Syndrome.

American journal of medical genetics. Part A
2025

Outcome of Children With Prenatally Diagnosed Saccular Limited Dorsal Myeloschisis: The Importance of Accurate Diagnosis.

Prenatal diagnosis
2025

Incidence of neural tube defects in tertiary care university hospital in Bangladesh.

Clinical and experimental pediatrics
2025

Lumbosacral (myelo) meningoceles in dogs, related tethered cord syndrome, and their surgical management: review of the literature and clinical experience.

Frontiers in veterinary science
2025

Spiral Monti catheterisable continent channel performed by robot-assisted approach.

Journal of pediatric urology
2025

SEMANTICS AND DYNAMICS OF HEADACHE IN PATIENTS WITH CHIARI MALFORMATION TYPE I AFTER DECOMPRESSION SURGERY: EXPERIENCE FROM AZERBAIJAN.

Georgian medical news
2025

Neural Tube Defects in South Carolina 1992-2019: A Review of Risk Factors.

Southern medical journal
2025

Craniosynostosis and Chiari I Malformation Managed With Middle 1/3 Calvarial Vault Expansion.

The Journal of craniofacial surgery
2025

Occult craniosynostosis in normocephalic children with Chiari I malformation.

Journal of neuroradiology = Journal de neuroradiologie
2025

Ultrasound assessment of bladder and motor function in fetuses with open spina bifida: cohort study.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2025

Optical genome mapping identifies rare structural variants in neural tube defects.

Genome research
2025

Prenatal diagnosis and pregnancy outcomes in fetuses with vertebral abnormalities.

The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2025

A CRISPR mis-insertion in the Zic3 5'UTR inhibits in vivo translation and is predicted to result in formation of an mRNA stem-loop hairpin.

Biology open
2025

Variants in Chromatin Remodeling Genes Are Involved in Patients With Chiari Malformation Type 1.

Birth defects research
2025

Neural tube defects in a war-torn Tigray regional state of Ethiopia: a retrospective study of 54,626 deliveries.

BMC pregnancy and childbirth
2025

Altered placental phenotype and increased risk of placental pathology in fetal spina bifida: A matched case-control study.

Placenta
2024

Amniotic fluid-derived stem cells: potential factories of natural and mimetic strategies for congenital malformations.

Stem cell research &amp; therapy
2024

Safety and efficacy of human umbilical cord-derived mesenchymal stromal cells in fetal ovine myelomeningocele repair.

Stem cell research &amp; therapy
2024

Corpus callosum structure and auditory interhemispheric transfer in spina bifida myelomeningocele.

Neuropsychology
2024

Imaging of a subcutaneous abscessation in the back of a calf with hindlimb paralysis.

Open veterinary journal
2024

Maternal Minocycline as Fetal Therapy in a Rat Model of Myelomeningocele.

The Journal of surgical research
2024

Associations between exposure to extreme ambient heat and neural tube defects in Georgia, USA: A population-based case-control study.

Environmental research
2024

Maternal implications of fetal anomalies: a population-based cross-sectional study.

American journal of obstetrics &amp; gynecology MFM
2024

First-trimester ultrasound of the cerebral lateral ventricles in fetuses with open spina bifida: a retrospective cohort study.

American journal of obstetrics &amp; gynecology MFM
2024

Proposal for standardized prenatal assessment of fetal open dysraphisms by the European reference network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies (ITHACA) and eUROGEN.

Prenatal diagnosis
2024

Noonan syndrome and type 1 Chiari malformation: Possible association.

American journal of medical genetics. Part A
2024

Surgical management of a rare giant sacral meningocele in a child.

Neuro-Chirurgie
2024

Patterns and short term neurosurgical treatment outcomes of neonates with neural tube defects admitted to Felege Hiwot Specialized Hospital, Bahir Dar, Ethiopia.

BMC pediatrics
2024

Classification of isolated versus multiple birth defects: An automated process for population-based registries.

American journal of medical genetics. Part A
2024

Are Chiari Malformation and Basilar Invagination Associated with Jugular Foramen Stenosis?

World neurosurgery
2024

Continuous Fetal Cardiac Monitoring during Fetoscopic Myelomeningocele Repair and Relationship to Spectral Doppler Changes.

Fetal diagnosis and therapy
2024

Altered placental immune cell composition and gene expression with isolated fetal spina bifida.

American journal of reproductive immunology (New York, N.Y. : 1989)
2024

An Apple and Acáchul Berry Snack Rich in Bioaccessible Antioxidants and Folic Acid: A Healthy Alternative for Prenatal Diets.

Foods (Basel, Switzerland)
2024

Treatment of an anterior cervicothoracic myelomeningocele together with spine deformity correction in a child: illustrative case.

Journal of neurosurgery. Case lessons
2024

The Role of Lumbar Drains in the Perioperative Management of Primary Spontaneous Temporal Lobe Encephaloceles and Cerebrospinal Fluid Leaks.

Otology &amp; neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
2024

Double Myelomeningocele Repair by Fetal Surgery with a Single Micro-Hysterotomy.

Pediatric neurosurgery
2024

Molecular landscape of congenital vertebral malformations: recent discoveries and future directions.

Orphanet journal of rare diseases
2024

Cervical split cord malformation (diastematomyelia) with associated Klippel-Feil deformity presenting in adulthood with bimanual synkinesis.

European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society
2024

Fetal spina bifida associates with dysregulation in nutrient-sensitive placental gene networks: Findings from a matched case-control study.

Clinical and translational science
2023

Fetal surgery for occipital encephalocele: A case report.

Surgical neurology international
2023

Embryonic exposure to decitabine induces multiple neural tube defects in developing zebrafish.

Fish physiology and biochemistry
2024

Intrauterine Correction of Fetal Myelomeningocele Through Minihysterotomy.

World neurosurgery
2024

Relationship of Morphometrics and Symptom Severity in Female Type I Chiari Malformation Patients with Biological Resilience.

Cerebellum (London, England)
2023

Role of Magnetic Resonance Imaging in the Screening of Closed Spinal Dysraphism.

Neurologia medico-chirurgica
2023

A New Surgical Paradigm for Postnatal Repair of Open Neural Tube Defects Using Intraoperative Neurophysiology Monitoring.

Advances and technical standards in neurosurgery
2024

Long-term outcomes and complications of isolated anterior thoracolumbar fusion for neuromuscular scoliosis associated with myelomeningocele.

Spine deformity
2023

Anatomical Implications of Chiari I and Basilar Invagination (Type B) in the IV Ventricle and Cisterna Magna.

World neurosurgery
2024

A novel classification and management scheme for craniocervical junction disorders with ventral neural element compression.

Journal of neurosurgery
2023

Prenatal Diagnosis of Diastematomyelia: a Case Report and Literature Review.

Reproductive sciences (Thousand Oaks, Calif.)
2023

Neuronavigated endoscopic aqueductoplasty with panventricular stent plus septostomy for isolated fourth ventricle in complex hydrocephalus and syringomyelia associated with myelomeningocele: how I do it.

Acta neurochirurgica
2023

The role of routine first-trimester ultrasound screening for central nervous system abnormalities: a longitudinal single-center study using an unselected cohort with 3-year experience.

BMC pregnancy and childbirth
2023

Combined Endoscopic Endonasal and Transpalatal Repair of Congenital Anterior Cranial Fossa Agenesis.

Operative neurosurgery (Hagerstown, Md.)
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

Practical Algorithm for the Management of Multisutural Craniosynostosis with Associated Chiari Malformation and/or Hydrocephalus.

Pediatric neurosurgery
2023

Prevalence of Chiari malformation type 1 is increased in pseudohypoparathyroidism type 1A and associated with aberrant bone development.

PloS one
2023

Prevention of Surgical Site Infection Following Open Spine Surgery: The Efficacy of Intraoperative Wound Irrigation with Normal Saline Containing Gentamicin Versus Dilute Povidone-Iodine.

World neurosurgery
2023

Two differential cavities in syringomyelia of pediatric Chiari I malformation presenting with unilateral foot drop.

Brain &amp; development
2024

Epilepsy Surgery Outcome of Traumatic Intradiploic Meningoencephalocele: A Case Report and Literature Review.

Clinical EEG and neuroscience
2023

Pathogenic/likely pathogenic copy number variations and regions of homozygosity in fetal central nervous system malformations.

Archives of gynecology and obstetrics
2022

Hyperglycemia affects neuronal differentiation and Nestin, FOXO1, and LMO3 mRNA expression of human Wharton's jelly mesenchymal stem cells of children from diabetic mothers.

Biochemical and biophysical research communications
2022

Folate Receptor Alpha is Decreased in Pregnancy Affected with Fetal Neural Tube Defect: A Case Control Study.

Neurology India
2023

Medical management of neurogenic bladder in patients with spina bifida: A scoping review.

Journal of pediatric urology
2022

Non-Isolated Neural Tube Defects with Comorbid Malformations Are Responsive to Population-Level Folic Acid Supplementation in Northern China.

Biology
2022

Tripeptide Leu-Pro-Phe from Corn Protein Hydrolysates Attenuates Hyperglycemia-Induced Neural Tube Defect in Chicken Embryos.

Oxidative medicine and cellular longevity
2022

CIC missense variants contribute to susceptibility for spina bifida.

Human mutation
2023

Charcot arthropathy of elbow due to syringomyelia: a case series and systematic review of literature.

Clinical rheumatology
2022

Impact of sleep-disordered breathing on the management of children with Chiari malformation type I.

Pediatric pulmonology
2022

Cranial dermal sinuses in pediatrics: Presentation, diagnosis, complications, and management. Experience at a tertiary care children's hospital.

Archivos argentinos de pediatria
2022

Biodistribution of allogenic umbilical cord-derived mesenchymal stromal cells after fetal repair of myelomeningocele in an ovine model.

Stem cell research &amp; therapy
2022

Preconception of folic acid supplementation knowledge among Ethiopian women reproductive age group in areas with high burden of neural tube defects: a community based cross-sectional study.

Journal of nutritional science
2022

Detection, isolation, and characterization of a novel impurity from several folic acid products.

Journal of Zhejiang University. Science. B
2022

Large Isolated Nasoorbital Type of Frontoethmoidal Encephalomeningocele: A Case Report With Long-Term Follow-up.

Annals of plastic surgery
2022

Dietary practice among cohort pregnant women who gave birth to neonates with and without neural tube defect: a comparative cross-sectional study.

Journal of nutritional science
2022

A complete case of Cantrell's Pentalogy with isolated left ventricular diverticulum.

Cardiology in the young
2022

Utility of 3D-T2 space MRI sequence in diagnosing a rare cause of lower backache: horseshoe cord and meningocoele manqué in a case of composite split cord malformation.

BMJ case reports
2022

Maternal hereditary hemolytic anemia and birth defects in the National Birth Defects Prevention Study.

Birth defects research
2022

Persisting embryonal infundibular recess (PEIR) and transsphenoidal-transsellar encephaloceles: distinct entities or constituents of one continuum?

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2022

Impact of Gestational Age on Neuroprotective Function of Placenta-Derived Mesenchymal Stromal Cells.

The Journal of surgical research
2022

Infantile hydrocephalus: A retrospective cohort of 467 patients from a single center.

Neuro-Chirurgie
2022

Comparison of Outcomes of Surgical Repair of Spontaneous Temporal Bone CSF Leaks and Encephaloceles Using Bone Cement and Autologous Material.

Otology &amp; neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
2021

Asymptomatic Hypernatremia in an Infant with Midline Defects.

EJIFCC
2022

New Association between Idiopathic Scoliosis and Luckenschadel Skull (Lacunar Skull).

Medical principles and practice : international journal of the Kuwait University, Health Science Centre
2021

Implementation Process and Evolution of a Laparotomy-Assisted 2-Port Fetoscopic Spina Bifida Closure Program.

Fetal diagnosis and therapy
2021

Isolated fetal neural tube defects associate with increased risk of placental pathology: Evidence from the Collaborative Perinatal Project.

Placenta
2022

Brain Doppler abnormalities in fetuses with open spina bifida.

The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2022

Longitudinal Trajectories of Clean Intermittent Catheterization Responsibility in Youths with Spina Bifida.

The Journal of urology
2023

Early Neonatal Mortality among Babies Born with Spina Bifida in Finland (2000-2014).

American journal of perinatology
2021

Brace treatment for scoliosis secondary to chiari malformation type 1 or syringomyelia without neurosurgical intervention: A matched comparison with idiopathic scoliosis.

European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society
2022

Chiari malformation type 1 presenting as isolated unilateral foot drop with rapid recovery following posterior fossa decompression.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2022

Diagnosis and treatment of Chiari malformation and syringomyelia in adults: international consensus document.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2022

Diagnosis and treatment of Chiari malformation type 1 in children: the International Consensus Document.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2021

Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants.

Acta neuropathologica communications
2022

Migraine in Chiari 1 Malformation: a cross-sectional, single centre study.

Acta neurologica Belgica
2021

Posterior occipital gunshot wound causing orbital roof blow-in fracture with encephalocele.

International journal of oral and maxillofacial surgery
2021

Incidence and patterns of abnormal corpus callosum in fetuses with isolated spina bifida aperta.

Prenatal diagnosis
2021

A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2021

Enhancement of transamniotic stem cell therapy for spina bifida by genetic engineering of donor mesenchymal stem cells with an Fgf2 transgene.

Journal of pediatric surgery
2021

Maternal ethnicity and the prevalence of British pregnancies affected by neural tube defects.

Birth defects research
2021

Incidence of neural tube defects and their risk factors within a cohort of Moroccan newborn infants.

BMC pediatrics
2021

Open Fetal Microneurosurgery for Intrauterine Spina Bifida Repair.

Fetal diagnosis and therapy
2021

Neurodevelopmental outcome of children born with an isolated atretic cephalocele.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2021

Characterization of Risk Factors for Neural Tube Defects: A Case-Control Study in Bogota and Cali, Colombia, 2001-2018.

Journal of child neurology
2021

Illness Experiences of Adults with Spina Bifida: Protecting the Whole Self.

Asian nursing research
2021

Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.

Human genetics
2021

Delayed recurrence of spontaneous intracranial hypotension syndrome mimicking a Chiari I malformation: Case report with a review of the literature.

Neuro-Chirurgie
2020

Risk of congenital birth defects during COVID-19 pandemic: Draw attention to the physicians and policymakers.

Journal of global health
2021

Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children.

European journal of ophthalmology
2020

Abnormal Head Size in Children and Adolescents with Congenital Nervous System Disorders or Neurological Syndromes with One or More Neurodysfunction Visible since Infancy.

Journal of clinical medicine
2021

Characteristics Associated With Depression, Anxiety, and Social Isolation in Adults With Spina Bifida.

Urology
2020

First report of Vibrio cholerae O9, novel st520, isolated from a child with bacteraemia-associated sepsis.

Indian journal of medical microbiology
2021

Prevalence of open neural tube defects and risk factors related to isolated anencephaly and spina bifida in live births from the "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara (Jalisco, Mexico).

Congenital anomalies
2021

Hypogonadism: Is It Always Hypogonadotropic in an Adolescent With a Cleft Palate? A Surprising Case of Klinefelter Syndrome.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2020

Prenatal diagnosis of frontal encephalocele.

Journal of clinical ultrasound : JCU
2020

Neurogenic Cough Associated with Hyperintensity in Dorsal Medulla: Case Report and Anatomical Discussion.

World neurosurgery
2020

FKBP8 variants are risk factors for spina bifida.

Human molecular genetics
2022

Experience with revision craniovertebral decompression in adult patients with Chiari malformation type 1, with or without syringomyelia.

British journal of neurosurgery
2020

Emergency Department Visits Following Suboccipital Decompression for Adult Chiari Malformation Type I.

World neurosurgery
2020

Postoperative fever workup in pediatric neurosurgery patients.

Journal of neurosurgery. Pediatrics
2020

[Clinical and radiological rationale for distinguishing subtypes of primary Chiari I malformation].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2020

Association Between Congenital Cytomegalovirus and the Prevalence at Birth of Microcephaly in the United States.

JAMA pediatrics
2020

Prevalence rates study of selected isolated non-Mendelian congenital anomalies in the Hutterite population of Alberta, 1980-2016.

American journal of medical genetics. Part A
2021

New surgical paradigm for open neural tube defects.

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

Revisiting the Resolution of Chiari Malformation in Nonsyndromic Craniosynostosis: A Case of Posterior Cranial Vault Reconstruction in Secondary Pan-Suture Synostosis.

World neurosurgery
2020

Congenital Anterior Skull Base Encephaloceles: Long-Term Outcomes After Transnasal Endoscopic Reconstruction.

World neurosurgery
2021

Fetal Open and Closed Spina Bifida on a Routine Scan at 11 Weeks to 13 Weeks 6 Days.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
2020

Update on the gestational effects of maternal hyperthermia.

Birth defects research
2020

High Prevalence of Gram-Negative Rod and Multi-Organism Surgical Site Infections after Pediatric Complex Tethered Spinal Cord Surgery: Preliminary Report from a Single-Center Study.

Pediatric neurosurgery
2020

Understanding the Mothers of Children with Spina Bifida and Hydrocephalus in Tanzania.

World neurosurgery
2020

Neural Tube Defects and Associated Anomalies before and after Folic Acid Fortification.

The Journal of pediatrics
2022

Prenatal diagnosis of a rare isolated thoracic-type ectopia cordis with complete form: a case report.

Journal of ultrasound
2020

Posterior Cranial Fossa Maldevelopment in Infants with Repaired Open Myelomeningoceles: Double Trouble or a Dynamic Process of Posterior Cranial Fossa Abnormalities?

World neurosurgery
2020

Concomitant Heterotopic Pancreas and Endometriosis as a Rare Cause of Ileo-Ileal Intussusception in a Young Woman with Spina Bifida: Case Report and Literature Review.

Digestive diseases and sciences
2021

Amniotic band syndrome associated with limited dorsal myeloschisis: a case report of an unusual case and review of the literature.

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

The N-terminus of MTRR plays a role in MTR reactivation cycle beyond electron transfer.

Bioorganic chemistry
2020

Severe and progressive neuronal loss in myelomeningocele begins before 16 weeks of pregnancy.

American journal of obstetrics and gynecology
2020

Repair of a Temporal Bone Encephalocele With the Surgical Exoscope.

Otology &amp; neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
2020

Syringomyelia in Patient with Concurrent Posttraumatic Hydrocephalus and Tethered Spinal Cord: Implications for Surgical Management.

World neurosurgery
2020

Maternal Folic Acid Supplementation Mediates Offspring Health via DNA Methylation.

Reproductive sciences (Thousand Oaks, Calif.)
2020

Acute presentation of Chiari 1 malformation in children.

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

Bilateral Bochdalek Hernias Associated with Arnold-Chiari I Malformation.

Case reports in radiology
2020

A perspective in the management of myelomeningocoele in the KwaZulu-Natal Province of South Africa.

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

Decreased placental folate transporter expression and activity in first and second trimester in obese mothers.

The Journal of nutritional biochemistry
2022

Amylase concentration and activity in the amniotic fluid of fetal rats with retinoic acid induced myelomeningocele.

The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2020

Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome.

American journal of medical genetics. Part A
2020

Need for botulinum toxin injection and bladder augmentation after isolated bladder outlet procedure in pediatric patients with myelomeningocele.

Journal of pediatric urology
2020

Risk of Stillbirth for Fetuses With Specific Birth Defects.

Obstetrics and gynecology
2020

Association between maternal pregestational diabetes mellitus and spina bifida: A population-based case-control study, Finland, 2000-2014.

Birth defects research
2019

Streptococcus Oralis meningitis from right sphenoid Meningoencephalocele and cerebrospinal fluid leak.

BMC infectious diseases
2020

Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Genetics in medicine : official journal of the American College of Medical Genetics
2019

Xq27.1 Duplication Encompassing SOX3: Variable Phenotype and Smallest Duplication Associated with Hypopituitarism to Date - A Large Case Series of Unrelated Patients and a Literature Review.

Hormone research in paediatrics
2019

Surgical Repair of an Occipital Meningocele in a Foal.

Journal of equine veterinary science
2019

Efficacy of Periconceptional High-Dose Folic Acid in Isolated Orofacial Cleft Prevention: A Systematic Review.

Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of India
2019

Reversible Progressive Multiple Cranial Nerve Paresis in the Isolated Fourth Ventricle following Placement of Fourth Ventricle Shunt: Case Report and Review of the Literature.

Pediatric neurosurgery
2020

Bioengineering and in utero transplantation of fetal skin in the sheep model: A crucial step towards clinical application in human fetal spina bifida repair.

Journal of tissue engineering and regenerative medicine
2019

[Multiple stones of the prostatic urethra associated with anejaculation revealing spinal dysraphism such as tethered cord syndrome at the base of the spinal canal in a young man: about an exceptional case].

The Pan African medical journal
2020

A Case of Sulfhemoglobinemia Secondary to a Urinary Tract Infection.

Journal of pediatric hematology/oncology
2020

Periumbilical swelling, erythema, and discharge in a girl: Answers.

Pediatric nephrology (Berlin, Germany)
2020

Periumbilical swelling, erythema, and discharge in a girl: Questions.

Pediatric nephrology (Berlin, Germany)
2019

Chiari Type I Malformation with Syringomyelia Presenting with Isolated Hemi-anhidrosis: Report of a Rare Case.

Neurology India
2020

Birth defects in Brazil: Outcomes of a population-based study.

Genetics and molecular biology
2019

In Utero Amniotic Fluid Stem Cell Therapy Protects Against Myelomeningocele via Spinal Cord Coverage and Hepatocyte Growth Factor Secretion.

Stem cells translational medicine
2021

South African adolescents living with spina bifida: contributors and hindrances to well-being.

Disability and rehabilitation
2019

Scoliosis in patients with Chiari malformation type I.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2019

SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.

Prenatal diagnosis
2019

Ultrasound to Evaluate Neonatal Spinal Dysraphism: A First-Line Alternative to CT and MRI.

Journal of neuroimaging : official journal of the American Society of Neuroimaging
2019

Autopsy Findings of Central Nervous System Anomalies in Intact Fetuses Following Termination of Pregnancy After Prenatal Ultrasound Diagnosis.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2019

Isolated spina bifida aperta: prenatal ventriculomegaly as an ultrasound prognostic marker.

Prenatal diagnosis
2019

Unilateral vagus nerve lesion revealing clival meningocele.

European annals of otorhinolaryngology, head and neck diseases
2020

Comparison of brain microstructure after prenatal spina bifida repair by either laparotomy-assisted fetoscopic or open approach.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2019

Clubfoot and Tethered Cord Syndrome: Results of Treatment With the Ponseti Method.

Journal of pediatric orthopedics
2019

Pituitary Adenoma Concomitant with Chiari I Malformation: Case Report and Literature Review.

World neurosurgery
2019

Nationwide survey of fetal myelomeningocele in Japan: Background for fetal surgery.

Pediatrics international : official journal of the Japan Pediatric Society
2019

Arthrogryposis in a Case of Chiari Malformation II: First Case Report in a Mediterranean Population.

The American journal of case reports
2019

Do we need to scan the whole neuraxis for coexistent abnormalities in children with surgically treated occult spinal dysraphism?

ANZ journal of surgery

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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. Effect of Maternal Hyperglycemia on Cortical Neuronal Migration: Hypofunction of Reelin Signaling.
    Journal of integrative neuroscience· 2026· PMID 41609037mais citado
  2. Diagnostic Yield of Post-Mortem Fetal Micro-CT for Central Nervous System Abnormalities.
    Prenatal diagnosis· 2026· PMID 41793079mais citado
  3. Integrating Mathematics into Prenatal Diagnosis-Different Phenotypes of Complex Ventral Wall Malformations Determined by Hierarchical Clustering.
    Journal of clinical medicine· 2026· PMID 41753031mais citado
  4. Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype-Specific Analysis.
    Prenatal diagnosis· 2026· PMID 41714291mais citado
  5. Mortality Through 2021 Among Persons Born With Spina Bifida in Metropolitan Atlanta, 1981-2018.
    Birth defects research· 2026· PMID 41673516mais citado
  6. Simplified nutritional and inflammatory indicators for long-term survival from all-cause mortality in maintenance hemodialysis.
    Clin Nephrol· 2026· PMID 41994879recente
  7. Self-Disproportionation-Induced H-Adsorption/Desorption Zones in Amorphous Nickel Boride Cocatalyst for Efficient Photocatalytic Hydrogen Evolution.
    J Am Chem Soc· 2026· PMID 41994858recente
  8. Isolated Paramedian Lower Lip Cleft: A Case of a Rare Form of a 28-29 Tessier Cleft.
    Cureus· 2026· PMID 41994837recente
  9. Integrating Space Sexology Into Long-Duration Mission Architecture: A Five-Pillar Operational Framework.
    Cureus· 2026· PMID 41994831recente
  10. Diffuse Gastrointestinal Polyposis Revealing Mantle Cell Lymphoma: A Case Highlighting a Diagnostic Pitfall.
    Cureus· 2026· PMID 41994825recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:563612(Orphanet)
  2. MONDO:0035402(MONDO)
  3. GARD:22255(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)

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

Exencefalia isolada
Compêndio · Raras BR

Exencefalia isolada

ORPHA:563612 · MONDO:0035402
CID-10
Q00.0 · Anencefalia
CID-11
Início
Antenatal
MedGen
UMLS
C0266453
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