Raras
Buscar doenças, sintomas, genes...
Cefalocelo
ORPHA:268817CID-10 · Q01CID-11 · LA01DOENÇA RARA

Defeito congênito no fechamento do tubo neural, resultando na protrusão do cérebro através de uma abertura no crânio. Quando a protrusão inclui as meninges, utiliza-se o termo encefalomeningocele.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Defeito congênito no fechamento do tubo neural, resultando na protrusão do cérebro através de uma abertura no crânio. Quando a protrusão inclui as meninges, utiliza-se o termo encefalomeningocele.

Pesquisas ativas
1 ensaio
3 total registrados no ClinicalTrials.gov
Publicações científicas
264 artigos
Último publicado: 2026 Apr 6

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
Worldwide
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q01
🇧🇷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
5 sintomas
😀
Face
1 sintomas
💪
Músculos
1 sintomas

+ 4 sintomas em outras categorias

Características mais comuns

Calcificação cerebral
Hipertelorismo
Encefalocele
Leucodistrofia
Convulsão
Defeito craniano
11sintomas
Sem dados (11)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 11 características clínicas mais associadas, ordenadas por frequência.

Calcificação cerebralCerebral calcification
HipertelorismoHypertelorism
EncefaloceleEncephalocele
LeucodistrofiaLeukodystrophy
ConvulsãoSeizure

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico264PubMed
Últimos 10 anos103publicações
Pico202113 papers
Linha do tempo
2026Hoje · 2026🧪 2019Primeiro ensaio clínico📈 2021Ano 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

1 gene identificado com associação a esta condição.

DACT1Dapper homolog 1Candidate gene tested inTolerante
FUNÇÃO

Involved in regulation of intracellular signaling pathways during development. Specifically thought to play a role in canonical and/or non-canonical Wnt signaling pathways through interaction with DSH (Dishevelled) family proteins. The activation/inhibition of Wnt signaling may depend on the phosphorylation status. Proposed to regulate the degradation of CTNNB1/beta-catenin, thereby modulating the transcriptional activation of target genes of the Wnt signaling pathway. Its function in stabilizin

LOCALIZAÇÃO

CytoplasmNucleusSynapse

VIAS BIOLÓGICAS (1)
Degradation of DVL
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.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Aorta
39.4 TPM
Nervo tibial
38.2 TPM
Cérebro - Hemisfério cerebelar
37.4 TPM
Artéria coronária
33.7 TPM
Cerebelo
28.9 TPM
OUTRAS DOENÇAS (4)
Townes-Brocks syndrome 2craniorachischisisTownes-Brocks syndromeoccipital encephalocele
HGNC:17748UniProt:Q9NYF0

Variantes genéticas (ClinVar)

25 variantes patogênicas registradas no ClinVar.

🧬 DACT1: NM_001079520.2(DACT1):c.763C>T (p.Leu255=) ()
🧬 DACT1: NM_001079520.2(DACT1):c.1703C>T (p.Thr568Met) ()
🧬 DACT1: GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1 ()
🧬 DACT1: GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 ()
🧬 DACT1: GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3 ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 2 variantes classificadas pelo ClinVar.

2
Patogênica (100.0%)
VARIANTES MAIS SIGNIFICATIVAS
PIBF1: NM_006346.4(PIBF1):c.1918A>T (p.Ile640Phe) [Pathogenic/Likely pathogenic]
PIBF1: NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys) [Likely pathogenic]

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

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

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Cefalocelo

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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

🟢 Recrutando agora

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

Outros ensaios clínicos

3 ensaios clínicos encontrados, 1 ativos.

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

Timeline de publicações
104 papers (10 anos)
#1

Cervical diastematomyelia in a patient with Pierre-Robin syndrome - A case report.

Surgical neurology international2026

Pierre-Robin syndrome (PRS) is a disorder characterized by mandibular hypoplasia, leading to upper airway obstruction and feeding difficulties due to backward displacement of the tongue (glossoptosis). Cervical diastematomyelia is another rare congenital condition in which the spinal cord splits into two hemicords at the level of the cervical spine. We report a unique case of a 6-month-old boy who has cervical diastematomyelia and PRS. At birth, our patient had mandibular hypoplasia, respiratory distress, a posterior parietal region swelling, and reduced tone in all four limbs. On current examination, he now also has left-sided torticollis along with the findings mentioned at birth. Imaging demonstrated features consistent with an atretic parietal cephalocele, enlarged cerebellum in comparison with age-matched group, and short segment type II diastematomyelia in the proximal cervical spinal cord. In patients with these complex congenital anomalies, improving outcomes requires early detection and tailored management strategies.

#2

Atretic Cephalocele.

The New England journal of medicine2026 Jan 08
#3

Prenatal Diagnosis of Atretic Cephalocele: Ultrasound Demonstration of Superior Sagittal Sinus Fenestration and Fibrous Stalk, and Potential Role of Brainstem-Tentorium Angle.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine2026 Feb

We present two cases highlighting novel prenatal ultrasound findings in atretic cephalocele (AC) using high-resolution ultrasound and microvascular flow imaging. This report includes the first prenatal ultrasound demonstration of key diagnostic AC features: superior sagittal sinus fenestration, observed in the parietal case, and a fibrous dural stalk, identified in both parietal and occipital cases. Both fetuses presented with a small midline scalp lesion, internal echoes, and an underlying bony defect without brain tissue herniation. Additionally, an increased brainstem-tentorium angle was measured in both, suggesting its potential utility as a supportive diagnostic marker. We propose a refined two-tiered diagnostic framework to improve the accuracy of prenatal AC diagnosis and distinguish AC from true encephaloceles, facilitating appropriate parental counseling.

#4

Bilateral Meckel's Cave Cephalocele Presenting as Cranial Nerve VI Palsy: A Case Report.

Case reports in neurology2025

Meckel's cave cephalocele, also known as petrous apex cephalocele (PAC), is a rare cystic lesion caused by herniation of the cerebrospinal fluid into the Meckel's cave. Bilateral PACs are exceptionally rare, with only 21 reported cases. PACs may present with headache, diplopia, tinnitus, or cranial nerve palsy. A 74-year-old male presented with acute onset headache, vision changes, and gait instability. His medical history included hypertension and melanoma. Examination revealed a left cranial nerve VI palsy. Initial imaging with head CT and CTA showed no acute intracranial abnormalities but revealed moderate chronic sinusitis. Magnetic resonance imaging demonstrated large bilateral Meckel's cave cephaloceles, more prominent on the left, with mass effect on the inferior margins of the cavernous sinus. Steroid treatment was initiated for suspected influenza-associated cranial neuropathy. Follow-up did not reveal an immediate improvement. However, after several weeks of steroid treatment, his symptoms improved significantly. The patient deferred surgical intervention. This case highlights a rare presentation of bilateral PACs with cranial nerve VI palsy. Although surgical intervention may be definitive, conservative treatment can provide relief of symptoms in select cases. More research is needed to guide optimal management strategies.

#5

In utero progression of cephaloceles: prenatal to postnatal analysis.

Journal of neurosurgery. Pediatrics2025 Apr 01

The natural history of cephaloceles is not well understood. The goal of this study was to better understand the natural history of fetal cephaloceles from prenatal diagnosis to the postnatal period. Between January 2013 and April 2023, all patients evaluated with a cephalocele at the Center for Fetal Diagnosis and Treatment were identified. All patients underwent prenatal and postnatal MRI. Demographic and imaging covariates were obtained from the electronic medical record. Volumetric analyses were performed to determine the percentage of neural tissue within the cephalocele. Progressive herniation was defined as an increase in cephalocele absolute neural tissue volume ≥ 5% or new herniation of an additional intracranial structure into the cephalocele. A total of 25 patients met the inclusion criteria. Of these patients, 6 (24%) exhibited progressive cephalocele herniation from the prenatal to postnatal MRI. The median sac volume was 2.2 mL (mean 6.2 mL, range 0.3-40.5 mL). The median change in brain volume in the patients with cephalocele progression was a decrease of 1.5% (mean -7.3%, range -36.4% to 3.1%). Cephalocele sac volume at the time of fetal imaging was predictive of progressive herniation, which persisted on multivariate analysis when controlling for gestational age, sex, and percentage of herniated neural tissue. While 44% of the patients had ventriculomegaly, 56% ultimately required permanent CSF diversion. Progressive neural herniation from the fetal to postnatal period is not commonly seen in fetal cephaloceles. Sac volume is associated with an increased risk of progressive herniation into the cephalocele.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC133 artigos no totalmostrando 100

2026

Cervical diastematomyelia in a patient with Pierre-Robin syndrome - A case report.

Surgical neurology international
2025

Suboccipital Atretic Cephalocele as a Marker for Joubert-Plus Syndrome: An Extended Phenotype of the CPLANE1 Gene Mutation.

Cureus
2026

Prenatal Diagnosis of Atretic Cephalocele: Ultrasound Demonstration of Superior Sagittal Sinus Fenestration and Fibrous Stalk, and Potential Role of Brainstem-Tentorium Angle.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
2025

Bilateral Meckel's Cave Cephalocele Presenting as Cranial Nerve VI Palsy: A Case Report.

Case reports in neurology
2025

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

American journal of medical genetics. Part A
2025

Joubert Plus syndrome in a child with Dandy-Walker malformation and occipital cephalocele: A case report.

Radiology case reports
2025

Occipital Cephalocele, Polymicrogyria, Ocular Anomaly and Vermian Dysplasia: Prenatal Markers for Knobloch Syndrome.

Prenatal diagnosis
2025

Undiagnosed complex neurological malformation in a geriatric patient presenting with seizures.

Radiology case reports
2025

Persistent Craniopharyngeal Canal (Type 3C) with Vertebrobasilar Dolichoectasia and Bilateral Sclerochoroidal Calcification.

Asian journal of neurosurgery
2025

Atretic Cephalocele as the Cause of Swelling on the Head of an Infant.

Deutsches Arzteblatt international
2025

Posterior vault encephaloceles: from antenatal management to post-surgical follow-up-a cooperative study.

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

Unusual Case of Multi-etiology Conductive Hearing Loss from Cephalocele and Prolapsed Facial Nerve.

The Laryngoscope
2025

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

Radiology case reports
2025

In utero progression of cephaloceles: prenatal to postnatal analysis.

Journal of neurosurgery. Pediatrics
2024

Spontaneous Lateral Sphenoid Cephalocele in Association with Idiopathic Intracranial Hypertension: A Case Report.

Journal of the Korean Society of Radiology
2024

Unusual Case of Fetal Meningocele Mimicking Dacryocystocele.

Global pediatric health
2024

Imaging-Based Prediction Parameters of Perinatal Morbidity and Mortality for Fetal Occipital Cephaloceles.

Prenatal diagnosis
2025

Spontaneous Lateral Sphenoid Cephalocele.

Ophthalmic plastic and reconstructive surgery
2024

Morning Glory Disc Anomaly: Expanding the MR Phenotype.

AJNR. American journal of neuroradiology
2024

Fetal Head and Neck Imaging.

Magnetic resonance imaging clinics of North America
2024

Surviving against the odds: exploring the clinical and radiological features of iniencephaly compatible with life. Illustrative case.

Journal of neurosurgery. Case lessons
2024

Incidental Petrous Apex Cephalocele Presenting With Transient Global Amnesia: A Case Report and Rapid Literature Review.

Cureus
2024

Atretic cephalocele and differential considerations: A small case series.

The neuroradiology journal
2023

Acalvaria: the first case report from Nepal.

Annals of medicine and surgery (2012)
2024

Atretic cephalocele associated with sinus pericranii: a single-center analysis.

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

Atretic cephaloceles with different imaging phenotypes - Case series with review of literature.

Journal of neurosciences in rural practice
2023

Anatomy and Pathology of the Skull Base: Malignant and Nonmalignant Lesions.

Oral and maxillofacial surgery clinics of North America
2023

Frontonasal Dysplasia: A Diagnostic Challenge with Fetal MRI in Twin Pregnancy.

Child neurology open
2023

NID1-related autosomal dominant Dandy-Walker malformation with occipital cephalocele in three generations.

European journal of medical genetics
2023

Atretic cephalocele and encephalocele: A single-institution clinicopathological study.

Journal of cutaneous pathology
2023

First Trimester Ultrasound Detection of Fetal Central Nervous System Anomalies.

Brain sciences
2023

Persistent falcine sinus in the newborn: 3 case reports of associated anomalies.

Radiology case reports
2023

INDIAMAN-20 (INstant DIAgnosis of 20 Major ANomalies) protocol: application of IOTA diagnostic strategy to fetal anomalies.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2022

Prenatal intracranial hypotension syndrome in congenital cephalocele: Insights into pathophysiologic mechanisms and importance of defect coverage.

Prenatal diagnosis
2022

Imaging of Congenital Malformations of the Brain.

Clinics in perinatology
2022

Joubert-Plus syndrome with an atretic cephalocele: a case report.

Radiology case reports
2022

Prenatal Diagnosis of Otocephaly: A Rare Facial Anomaly.

Journal of obstetrics and gynaecology of India
2022

Natural history of posterior fetal cephaloceles and incidence of progressive cephalocele herniation.

Journal of neurosurgery. Pediatrics
2022

Atretic Parietal Cephalocele With First Trimester Chiari Malformation and Sinus Pericranii Companion Case.

Cureus
2022

Unilateral expanding petrous apex cephalocele and contralateral vitreous hemorrhage in a young patient with intracranial hypertension.

American journal of ophthalmology case reports
2022

Imaging of pediatric nasal masses: A review.

Journal of neuroimaging : official journal of the American Society of Neuroimaging
2022

Bilateral Petrous Apex Cephalocele Associated with a Wide Sella.

The Journal of craniofacial surgery
2021

Chiari III Malformation on Prenatal and Postnatal Imaging Complicated by Syndrome of Inappropriate Secretion of Anti-diuretic Hormone (SIADH) and Serratia marcescens Meningitis.

Cureus
2022

Endoscopic endonasal and transorbital approaches to petrous apex lesions.

Journal of neurosurgery
2021

The spectrum of venous anomalies associated with atretic parietal cephaloceles: A literature review.

Surgical neurology international
2021

Cavum trigeminale cephalocele associated with intracranial hypertension in an 18-month-old child: illustrative case.

Journal of neurosurgery. Case lessons
2022

Rare Neuroimaging Findings in an Adult Neurofibromatosis Type 1 Patient.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
2021

Rare case of bilateral petrous apex cephalocele.

BMJ case reports
2021

Contribution of computed tomography and magnetic resonance imaging in the analysis of fetal craniofacial malformations.

Pediatric radiology
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

Petrous Apex Cephaloceles: Radiology Features and Surgical Management of a Rare Entity.

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

Atretic cephalocele: Report of an infrequent dermatopathologic finding.

Journal of cutaneous pathology
2021

Dural Venous Sinus Stenosis: Why Distinguishing Intrinsic-versus-Extrinsic Stenosis Matters.

AJNR. American journal of neuroradiology
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

Routine first-trimester ultrasound screening using a standardized anatomical protocol.

American journal of obstetrics and gynecology
2021

First-trimester fetal neurosonography: technique and diagnostic potential.

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

Systematic review of anterior congenital cephaloceles: open vs endoscopic repair.

International forum of allergy &amp; rhinology
2020

Prenatal Diagnosis of a De Novo Partial Trisomy 6q and Partial Monosomy 18p Associated with Cephalocele: A Case Report.

Balkan journal of medical genetics : BJMG
2020

Nasal meningoencephalocele: A retrospective study of clinicopathological features and diagnosis of 16 patients.

Annals of diagnostic pathology
2020

Atretic cephalocele with hypertrichosis.

Cutis
2020

Bilateral petrous apex cephaloceles: Is surgical intervention indicated?

International journal of surgery case reports
2020

Prevalence of Sigmoid Sinus Dehiscence and Diverticulum among Adults with Skull Base Cephaloceles.

AJNR. American journal of neuroradiology
2020

Giant Cephalocele Case Mimicking Cystic Neoplasia in Skull Base.

The Journal of craniofacial surgery
2020

[Cutaneous signs of occult cranial and spinal dysraphism].

Annales de dermatologie et de venereologie
2020

Proatlas anomalies in craniofacial malformations: 5-year experience in King Chulalongkorn Memorial Hospital.

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

Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review.

Prenatal diagnosis
2019

Prenatal evaluation of the Sakoda complex.

Pediatric radiology
2019

Neural Crest Cell Failure as Embryogenesis for Fusiform Aneurysm of the Anterior Communicating Artery: Case Report and Review of the Literature.

World neurosurgery
2019

Role of High-Frequency Ultrasound in the Diagnosis of Atretic Cephalocele.

Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
2019

NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes.

American journal of medical genetics. Part A
2019

Bipartite craniopharyngeal canal with a lipoma and cephalocele: a previously unreported entity.

Acta neurochirurgica
2019

Prenatal Diagnosis and Management of Ectopia Cordis: Varied Presentation Spectrum.

Fetal and pediatric pathology
2019

Association of Hydrocephalus with Neural Tube Defect: Our Experience with the Surgical Treatment in One or in Two Operative Stages (on Separate Days).

Pediatric neurosurgery
2018

Neuroimaging findings of extensive sphenoethmoidal dysplasia in NF1.

Clinical imaging
2018

Intradiploic cephalocele: a rare entity at a rare site.

BMJ case reports
2018

Recurrence of atretic parietal cephalocele in adult: a case report and review of literature.

Folia morphologica
2017

Masses of the Nose, Nasal Cavity, and Nasopharynx in Children.

Radiographics : a review publication of the Radiological Society of North America, Inc
2018

Hair-Collar-and-Tuft-Sign Associated with an Atretic Cephalocele and a Persistent Primitive Falcine Sinus.

The Journal of pediatrics
2017

Fetal cephaloceles: prenatal diagnosis and course of pregnancy in 65 consecutive cases.

Archives of gynecology and obstetrics
2018

Non-visualization of choroid plexus of fourth ventricle as first-trimester predictor of posterior fossa anomalies and chromosomal defects.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2016

Surgically Cured, Relapsed Pneumococcal Meningitis Due to Bone Defects, Non-invasively Identified by Three-dimensional Multi-detector Computed Tomography.

Internal medicine (Tokyo, Japan)
2017

The scalp hair collar and tuft signs: A retrospective multicenter study of 78 patients with a systematic review of the literature.

Journal of the American Academy of Dermatology
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

Atretic cephaloceles: a comprehensive analysis of historical cohort.

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

Giant occipital meningohydroencephalocele in an adult: Another historical case in neural tube defects.

Neuro-Chirurgie
2017

Venous anomaly analogous to vertical embryonic positioning of the straight sinus associated with atretic cephalocele at the suboccipital region.

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

A mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closure.

Disease models &amp; mechanisms
2016

Nasoethmoidal meningocele in a child presenting bilateral congenital cystic adenomatoid malformation: Evidence for a new entity or consequence of gestational exposures?

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

Occipital cephalocele with neural crest remnants? Radiological and pathological findings in a newborn boy.

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

Petrous apex cephalocele presenting with cerebrospinal fluid rhinorrhea in an adult.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2015

Chiari 3 Malformation and Cephalocele: Perinatal Evaluation.

Ultrasound quarterly
2015

The cephaloceles: A clinical, epidemiological and therapeutic study of 50 cases.

Neuro-Chirurgie
2016

[Cephalocele of the petrous apex: a rare etiology of trigeminal neuralgia].

RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin
2016

Two cases of atretic cephalocele, and histological evaluation of skin appendages in the surrounding skin.

Clinical and experimental dermatology
2015

Parietal atretic cephalocele: Associated cerebral anomalies identified by CT and MR imaging.

The neuroradiology journal
2015

The association between petrous apex cephalocele and empty sella.

Surgical and radiologic anatomy : SRA
2015

Excavating Meckel's cave: Cavum-trigeminale-cephaloceles (CTCs).

Journal of neuroradiology = Journal de neuroradiologie
2015

Abnormal sonographic appearance of posterior brain at 11-14 weeks and fetal outcome.

Prenatal diagnosis
2015

Frontoethmoidal cephalocele: our experience of eleven cases managed surgically.

Pediatric neurosurgery
2015

A scalp lesion with intracranial extension. Atretic cephalocele.

JAMA otolaryngology-- head &amp; neck surgery
Ver todos os 133 no EuropePMC

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

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

  1. Cervical diastematomyelia in a patient with Pierre-Robin syndrome - A case report.
    Surgical neurology international· 2026· PMID 41783179mais citado
  2. Atretic Cephalocele.
    The New England journal of medicine· 2026· PMID 41499734mais citado
  3. Prenatal Diagnosis of Atretic Cephalocele: Ultrasound Demonstration of Superior Sagittal Sinus Fenestration and Fibrous Stalk, and Potential Role of Brainstem-Tentorium Angle.
    Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine· 2026· PMID 40920064mais citado
  4. Bilateral Meckel's Cave Cephalocele Presenting as Cranial Nerve VI Palsy: A Case Report.
    Case reports in neurology· 2025· PMID 40755950mais citado
  5. In utero progression of cephaloceles: prenatal to postnatal analysis.
    Journal of neurosurgery. Pediatrics· 2025· PMID 39793016mais citado
  6. Surgical management of petrous apex trigeminal nerve herniation causing trigeminal neuralgia with long-term outcome: illustrative case.
    J Neurosurg Case Lessons· 2026· PMID 41941838recente
  7. Suboccipital Atretic Cephalocele as a Marker for Joubert-Plus Syndrome: An Extended Phenotype of the CPLANE1 Gene Mutation.
    Cureus· 2025· PMID 41552241recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:268817(Orphanet)
  2. MONDO:0017078(MONDO)
  3. GARD:20967(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55786791(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

Cefalocelo
Compêndio · Raras BR

Cefalocelo

ORPHA:268817 · MONDO:0017078
Prevalência
Unknown
CID-10
Q01 · Encefalocele
CID-11
Ensaios
1 ativos
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0014065
EuropePMC
Wikidata
Papers 10a
DiscussaoAtiva

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