Raras
Buscar doenças, sintomas, genes...
Hidranencefalia
ORPHA:2177CID-10 · Q04.3CID-11 · LA05.62DOENÇA RARA

Doença cerebral congênita rara em que os hemisférios cerebrais estão ausentes e são substituídos por bolsas que contêm líquido cefalorraquidiano. Os sinais e sintomas incluem irritabilidade, aumento do tônus ​​muscular, convulsões e hidrocefalia. O prognóstico é ruim.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Doença cerebral congênita rara em que os hemisférios cerebrais estão ausentes e são substituídos por bolsas que contêm líquido cefalorraquidiano. Os sinais e sintomas incluem irritabilidade, aumento do tônus ​​muscular, convulsões e hidrocefalia. O prognóstico é ruim.

Publicações científicas
559 artigos
Último publicado: 2026 Apr 9

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
Início
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q04.3
🇧🇷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
7 sintomas
👁️
Olhos
3 sintomas
📏
Crescimento
3 sintomas
❤️
Coração
2 sintomas
👂
Ouvidos
1 sintomas
🦴
Ossos e articulações
1 sintomas

+ 11 sintomas em outras categorias

Características mais comuns

90%prev.
Atraso global do desenvolvimento
Muito frequente (99-80%)
90%prev.
Retardo do crescimento pós-natal
Muito frequente (99-80%)
90%prev.
Cegueira
Muito frequente (99-80%)
90%prev.
Atrofia cortical cerebral
Muito frequente (99-80%)
90%prev.
Morfologia anormal do corpo estriado
Muito frequente (99-80%)
90%prev.
Deficiência auditiva neurossensorial infantil
Muito frequente (99-80%)
28sintomas
Muito frequente (7)
Frequente (17)
Ocasional (4)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 28 características clínicas mais associadas, ordenadas por frequência.

Atraso global do desenvolvimentoGlobal developmental delay
Muito frequente (99-80%)90%
Retardo do crescimento pós-natalPostnatal growth retardation
Muito frequente (99-80%)90%
CegueiraBlindness
Muito frequente (99-80%)90%
Atrofia cortical cerebralCerebral cortical atrophy
Muito frequente (99-80%)90%
Morfologia anormal do corpo estriadoAbnormal corpus striatum morphology
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico559PubMed
Últimos 10 anos119publicações
Pico202014 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

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive, Unknown.

NDE1Nuclear distribution protein nudE homolog 1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Required for centrosome duplication and formation and function of the mitotic spindle. Essential for the development of the cerebral cortex. May regulate the production of neurons by controlling the orientation of the mitotic spindle during division of cortical neuronal progenitors of the proliferative ventricular zone of the brain. Orientation of the division plane perpendicular to the layers of the cortex gives rise to two proliferative neuronal progenitors whereas parallel orientation of the

LOCALIZAÇÃO

Cytoplasm, cytoskeletonCytoplasm, cytoskeleton, microtubule organizing center, centrosomeChromosome, centromere, kinetochoreCytoplasm, cytoskeleton, spindleCleavage furrowCytoplasmic vesicle membrane

VIAS BIOLÓGICAS (10)
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signalRHO GTPases Activate ForminsMitotic PrometaphaseEML4 and NUDC in mitotic spindle formationResolution of Sister Chromatid Cohesion
MECANISMO DE DOENÇA

Lissencephaly 4 with microcephaly

A neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
54.8 TPM
Brain Spinal cord cervical c-1
24.3 TPM
Skin Sun Exposed Lower leg
21.6 TPM
Skin Not Sun Exposed Suprapubic
20.0 TPM
Vagina
17.1 TPM
OUTRAS DOENÇAS (4)
lissencephaly 4NDE1-related microhydranencephalyhydranencephalyNorman-Roberts syndrome
HGNC:17619UniProt:Q9NXR1

Variantes genéticas (ClinVar)

534 variantes patogênicas registradas no ClinVar.

🧬 NDE1: NM_002474.3(MYH11):c.4955C>T (p.Ala1652Val) ()
🧬 NDE1: NM_002474.3(MYH11):c.4658A>G (p.Asp1553Gly) ()
🧬 NDE1: NM_002474.3(MYH11):c.5613+1G>A ()
🧬 NDE1: NM_002474.3(MYH11):c.3963+1G>A ()
🧬 NDE1: NM_002474.3(MYH11):c.5379G>T (p.Gln1793His) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 18 variantes classificadas pelo ClinVar.

11
5
2
Patogênica (61.1%)
VUS (27.8%)
Benigna (11.1%)
VARIANTES MAIS SIGNIFICATIVAS
CEP55: NM_018131.5(CEP55):c.547C>T (p.Gln183Ter) [Likely pathogenic]
FOXP3: NM_014009.4(FOXP3):c.648-2A>G [Likely pathogenic]
CEP55: NM_018131.5(CEP55):c.190C>T (p.Arg64Ter) [Pathogenic/Likely pathogenic]
CEP55: NM_018131.5(CEP55):c.993+3A>C [Pathogenic]
CEP55: NM_018131.5(CEP55):c.807T>G (p.Tyr269Ter) [Pathogenic/Likely pathogenic]

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 — Hidranencefalia

🗺️

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

Timeline de publicações
108 papers (10 anos)
#1

A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications.

European journal of human genetics : EJHG2026 Mar

FLVCR2 is a highly conserved member of the major facilitator superfamily (MFS), the largest superfamily of solute carriers that are involved in the transport of small molecules across lipid bilayers. The loss of the murine ortholog Mfsd7c, an endothelial transporter in brain blood vessels, causes brain angiogenic growth deficiency and lethality. Recessive FLVCR2 variants cause proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), also known as Fowler syndrome. This often-lethal condition features microcephaly, skeletal deformities, and severe cerebrovascular defects. Although a number of cases have been reported, very limited evidence of the pathogenicity of FLVCR2 variants is available. In this study, we thoroughly investigated a new fetal case of Fowler syndrome. Through exome sequencing, we identified two compound heterozygous FLVCR2 variants: the maternal c.1124+3_1124+6del and the paternal p.(Arg492Trp). The effects of the c.1124+3_1124+6del variant were investigated through a minigene assay, which showed impaired splicing of the exon 5 of FLVCR2. To characterize the impact of the p.(Arg492Trp) substitution, we performed protein modeling using Rosetta and DynaMut2, that showed a highly destabilizing effect. Then, based on the very recent evidence that choline is a major FLVCR2 ligand, we performed a radiolabeled-choline or ethanolamine transport assays in HEK 293 cells and found that the p.(Arg492Trp) variant causes a 50-60% reduction of FLVCR2 transport activity, resulting in a net activity of 25-30%. Our findings suggest that FLVCR2 deficiency may be sufficient to cause PVHH even in the absence of a complete loss of transport activity, possibly involving extragenetic factors in the pathophysiology of this complex condition.

#2

Hydranencephaly and porencephaly predominated among neuropathologic findings in stillborn and neonatal piglets during the first major outbreak of Japanese encephalitis in Australia.

Veterinary pathology2026 Feb 25

In 2022, piggeries in southeastern Australia experienced an increase in reproductive losses and occasional neurologic disease in neonates with up to 100% mortality in some litters. Molecular testing identified a genotype IV Japanese encephalitis virus (JEV) as the etiological agent, detected for the first time in Australia. Necropsy of 235 JEV-positive domestic piglets, mostly stillbirths with 30% mummified, revealed hydranencephaly-porencephaly impacting the dorsal cerebrum as the most common lesion. Microscopically, this was characterized by varying degrees of parenchymal collapse as a result of liquefactive necrosis, hypoplasia, and dysplasia, with nonsuppurative inflammation and mineralization. In the most severe cases, hydranencephaly reduced the cerebral parenchyma to a thin membrane enclosing dilated lateral ventricles. Histologically, the affected neuroparenchyma was largely devoid of mature neurons, axons, myelin, and oligodendrocytes. What remained was mostly a dense population of IBA-1-positive histiocytes and few CD3-positive T-lymphocytes, interspersed within a dense network of GFAP-positive astrocytic processes. Immunohistochemistry for flaviviral antigen showed colocalization of viral antigen-positive neurons and necrotic foci. In less severe cases, cerebral necrosis occurred in well-demarcated, locally extensive regions or isolated gyri, sometimes with a vascular distribution, resulting in porencephaly. In addition, vascular calcification was noted, although with unknown significance and pathogenesis. Arthrogryposis, scoliosis, and kyphosis were observed in a small subset of the cases, which had myelodysplasia. Myelodysplastic changes varied and included central canal duplication, dysplastic gray matter, and bifurcation of the ventral medial sulcus. Multifocal necrosis and inflammation were also observed in the spinal cord, although the extent was typically limited.

#3

The Evolution of Cephalocentesis in Contemporary Obstetric Practice: From Emergency Intervention to Planned Procedure.

Fetal diagnosis and therapy2026 Jan 19

The aim of the study was to analyze the evolution, indications, and outcomes of cephalocentesis over a 38-year period at two tertiary fetal medicine centers. A retrospective review of 70 cephalocentesis procedures (1985-2023) was conducted at Mount Sinai Hospital, Toronto, and the National Maternity Hospital, Dublin. Cases were divided into pre-2002 (n = 37) and 2002-onward (n = 33) cohorts in order to evaluate practice evolution. Mean gestational age at diagnosis was 32.7 ± 5.4 weeks with severe hydrocephalus in 95.7% (67/70) and hydranencephaly in 4.3% (3/70) of cases. Pre-2002, 94.6% (35/37) of procedures were performed intrapartum; 2002 onward, this shifted to 66.7% (22/33) pre-labor planned procedures with 84.8% (28/33) using a transabdominal approach. Concurrent fetal analgesia and potassium chloride (KCl) to achieve fetal asystole was introduced in 2002. Vaginal delivery was achieved in 95.7% (67/70) of cases. Perinatal mortality (excluding KCl cases) was 91.8% (45/49). All four survivors (5.8%) demonstrated neurodevelopmental impairment. Cephalocentesis has evolved from an intrapartum intervention to a planned procedure with standardized protocols. Our findings support reserving this procedure for cases where there is no expectation of postnatal survival, with the primary purpose of facilitating vaginal delivery when caesarean section could unnecessarily increase maternal morbidity.

#4

A neutralizing antibody protects Kunming mice against AKAV lethal challenge.

BMC veterinary research2026 Jan 09

Akabane virus (AKAV) infection is associated with arthrogryposis-hydranencephaly syndrome in ruminants. Current commercialized AKAV live attenuated vaccines have safety concerns and cannot fully protect against all genotypes or emerging strains. Thus, developing a new type of vaccine or treatment is urgently required. The neutralizing antibodies (NAbs) directed against the Gc protein can efficiently neutralize the corresponding Bunyavirales viruses. We previously generated three NAbs against the Gc protein of AKAV that collectively recognize a highly conserved epitope among diverse AKAV genotypes and established a mouse model of AKAV infection. Here, our objective was to evaluate the protective efficacy of one of the produced NAbs, 4F12, against AKAV infection using the mouse model. Suckling Kunming mice were first intraperitoneally administered varying doses of the NAb 4F12, followed by intraperitoneal (IP) or intracerebral (IC) challenge with a lethal dose of AKAV. Clinical symptoms, body weight, and mortality were then monitored and recorded daily for 14 days. The AKAV RNA, viral particles, antigens distribution, and microscopic lesions in the brain tissues of the experimental mice were analyzed. All mice that did not receive 4F12 pretreatment died before the experimental endpoint, regardless of the AKAV challenge routes. While a dose-dependent survival increase (50% ~ 83.33%) was observed in 4F12-pretreated mice, with higher antibody concentrations conferring greater protection against both IC and IP AKAV challenges. Moreover, all mice that survived AKAV challenge due to 4F12 pretreatment showed complete absence of AKAV RNA, viral particles, and antigens in brain tissues, with no detectable virus-associated brain lesions. We proved that the NAb 4F12 could reduce the AKAV-induced mortality in mice. 4F12 is a promising candidate suitable for clinical development as an AKAV therapeutic. The highly conserved epitope recognized by 4F12 provides critical insights for the design of new broadly protective AKAV vaccines.

#5

Research progress on the N gene of Akabane virus.

Frontiers in veterinary science2025

Akabane disease, an arthropod-borne viral infection transmitted by Culicoides mosquitoes, causes severe reproductive disorders in livestock, including abortion, stillbirth, and congenital arthrogryposis-hydranencephaly syndrome. Caused by Akabane virus (AKAV), a single-stranded negative-sense RNA virus of the genus Orthobunyavirus (family Peribunyaviridae), this pathogen poses significant economic threats to global cattle and sheep industries. This review comprehensively examines the nucleocapsid protein (N) encoded by the AKAV S segment, which forms a conserved ribonucleoprotein (RNP) complex essential for viral genome protection, replication, and transcription. The structural characteristics of the N gene were analyzed, its minimal genetic variation across genotypes (97-100% homology), and functional roles in viral pathogenesis. Furthermore, applications of the N gene in diagnostic development (e.g., ELISA, PCR, colloidal gold immunoassays) and vaccine design were summarized, highlighting its utility as an immunogenic target due to high conservation and early antibody in-duction. By integrating these genetic, structural, and applied research advances, this review provides a theoretical foundation for novel control strategies against AKAV.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC330 artigos no totalmostrando 117

2026

Hydranencephaly and porencephaly predominated among neuropathologic findings in stillborn and neonatal piglets during the first major outbreak of Japanese encephalitis in Australia.

Veterinary pathology
2026

The Evolution of Cephalocentesis in Contemporary Obstetric Practice: From Emergency Intervention to Planned Procedure.

Fetal diagnosis and therapy
2026

A neutralizing antibody protects Kunming mice against AKAV lethal challenge.

BMC veterinary research
2025

Cattle Abortions and Congenital Malformations Due to Bluetongue Virus Serotype 3 in Southern Belgium, 2024.

Viruses
2025

Research progress on the N gene of Akabane virus.

Frontiers in veterinary science
2025

Construction and Characterization of a Vesicular Stomatitis Virus Chimera Expressing Schmallenberg Virus Glycoproteins.

Veterinary sciences
2025

Congenital Malformations of the Central Nervous System Caused by Bluetongue Virus Serotype 3 (BTV-3) in Two Calves.

Veterinary sciences
2025

Cerebral Malformations in Calves Presumed to Be Associated with an Outbreak of Bluetongue Virus Serotype 3 Infection.

Animals : an open access journal from MDPI
2025

Identification of Fowler syndrome (hydrocephaly-hydranencephaly proliferative vasculopathy) in a pregnancy following single euploid embryo transfer.

Journal of assisted reproduction and genetics
2025

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

Developmental medicine and child neurology
2025

Investigating serological evidence of Schmallenberg virus in cattle in eastern Algeria.

Veterinary research forum : an international quarterly journal
2026

A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications.

European journal of human genetics : EJHG
2024

Hydranencephaly: exploring the role of CT features in the diagnosis of 22 cases.

Malawi medical journal : the journal of Medical Association of Malawi
2025

Cerebrolith in hydranencephaly.

Pediatric radiology
2024

Hydranencephaly in a Newborn: A Case Report and a Review of the Literature.

Cureus
2024

Generation of IPi002-A/B/C human induced pluripotent stem cell lines from MARCH amniotic fluid cells.

Stem cell research
2025

Biallelic missense CEP55 variants cause prenatal MARCH syndrome.

Journal of human genetics
2025

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.

Genetics in medicine : official journal of the American College of Medical Genetics
2024

Study of Akabane disease in an Iranian dairy herd: a re-emerging disease.

Veterinary research communications
2024

An outbreak of Akabane disease in a cattle herd on the Mughan plain, Iran.

Veterinary research forum : an international quarterly journal
2024

Replication of Akabane virus and related orthobunyaviruses in a fetal-bovine-brain-derived cell line.

Archives of virology
2024

Prevalence of congenital anomalies and prenatal diagnosis by birth institution (public vs. non-public): indicators of inequality in access to elective termination of pregnancy for fetal anomalies.

Journal of community genetics
2024

A case of testicular cancer in a long-term hydranencephaly survivor with undescended testes.

IJU case reports
2024

Type 1 early infantile epileptic encephalopathy: A case report and literature review.

Molecular genetics &amp; genomic medicine
2024

Ethics in Practice: Laryngotracheoplasty Versus Tracheostomy in a Patient With Severe Hydranencephaly.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
2024

Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.

Neurogenetics
2024

Ventriculoperitoneal Shunt Alone for Spontaneous Cerebrospinal Fluid Rhinorrhea as a Presenting Symptom of Hemi-hydranencephaly.

The Journal of craniofacial surgery
2023

CEP55-associated lethal fetal syndrome: a case report of a Chinese family.

Frontiers in genetics
2024

Congenital malformations caused by Akabane virus in porcine fetuses in southern Japan.

Veterinary research communications
2023

A forensic case of hydranencephaly in a preterm neonate fully documented by postmortem imaging techniques.

Forensic sciences research
2023

Hydranencephaly following carbon monoxide poisoning during pregnancy: An uncommon and potentially fatal complication in infant.

Birth defects research
2023

Congenital cerebral and cerebellar anomalies in relation to bovine viral diarrhoea virus and Akabane virus in newborn calves.

Acta veterinaria Hungarica
2023

Epidemiology of Chuzan Virus Infection in Free-Ranging and Farmed Cervids in South Korea: A Seroprevalence Survey.

Journal of wildlife diseases
2023

Hemihydranencephaly in a cat.

The Journal of small animal practice
2022

Hydranencephaly in CENPJ-related Seckel syndrome.

European journal of medical genetics
2024

Hydranencephaly in a newborn due to occupational toluene exposure during pregnancy: a case report.

Acute and critical care
2022

Peripartum cephalocenthesis in a large fetal hydranencephaly.

Journal of perinatal medicine
2021

Choroid Plexectomy for Hydrocephalus Management in a Pediatric Patient with a Pilocytic Astrocytoma.

Journal of neurosciences in rural practice
2022

NDE1-related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly.

American journal of medical genetics. Part A
2021

Seroepidemiology of Aino Virus in Farmed and Free-Ranging Cervids in the Republic of Korea.

Frontiers in veterinary science
2021

A novel ARX loss of function variant in female monozygotic twins is associated with chorea.

European journal of medical genetics
2021

Computed tomography (CT) scan findings in calves with hydranencephaly.

Iranian journal of veterinary research
2021

Fatal fetal abnormality Irish live-born survival-an observational study.

Journal of community genetics
2021

Ultrasonographic approach and findings in calves with hydranencephaly.

Veterinary medicine and science
2021

Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy.

AJP reports
2021

The spectrum of brain malformations and disruptions in twins.

American journal of medical genetics. Part A
2020

Prenatal diagnosis of fetal microhydranencephaly: a case report and literature review.

BMC pregnancy and childbirth
2020

Hydranencephaly: Clinical Features and Survivorship in a Retrospective Cohort.

World neurosurgery
2020

Variability of non-lethal Fowler syndrome phenotype associated with FLVCR2 variants.

Clinical genetics
2020

Unveiling what is absent within: illustrating anesthetic considerations in a patient with hydranencephaly - a case report.

BMC anesthesiology
2020

Multiple Cephalic Malformations in a Calf.

Animals : an open access journal from MDPI
2021

Quantitative contrast-enhanced ultrasound of the brain on twin fetal lambs maintained by the extrauterine environment for neonatal development (EXTEND): initial experience.

Pediatric radiology
2021

A video polysomnographic study of spontaneous smiling during sleep in newborns.

Journal of sleep research
2020

Abnormalities of the Fetal Central Nervous System: Prenatal US Diagnosis with Postnatal Correlation.

Radiographics : a review publication of the Radiological Society of North America, Inc
2020

Expanding the phenotype of COL4A1-related disorders-Four novel variants.

Brain &amp; development
2020

Hydranencephaly treatments: retrospective case series and review of the literature.

Journal of neurosurgery. Pediatrics
2020

Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature.

Clinical genetics
2020

Hydranencephaly in a Neonate: A Literature Review.

Neurology India
2020

Expanding the spectrum of CEP55-associated disease to viable phenotypes.

American journal of medical genetics. Part A
2020

Management and problems of prolonged survival with hydranencephaly in the modern treatment era.

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

Clinical cases of Bluetongue serotype 8 in calves in France in the 2018-2019 winter.

Transboundary and emerging diseases
2020

Prenatal sonographic diagnosis of Dandy-Walker malformation and type III lissencephaly: A novel association.

Journal of clinical ultrasound : JCU
2019

Schmallenberg virus: a systematic international literature review (2011-2019) from an Irish perspective.

Irish veterinary journal
2019

Schmallenberg virus affects T-bet, Gata3, RoRrγt, Foxp3 and Eomes in mice brain.

Acta virologica
2019

The Benefits of a Guideline on Safe Termination of Pregnancy for Legal Indications: An Illustrative Case Report of a Hydranencephaly.

African journal of reproductive health
2019

Marching out of the crypt.

Science (New York, N.Y.)
2019

Involvement of the centrosomal protein 55 (cep55) gene in zebrafish head formation.

Genes to cells : devoted to molecular &amp; cellular mechanisms
2019

Right Brain: A state of emotional aphasia.

Neurology
2019

Hydranencephaly complicated by central diabetes insipidus: report of two cases and systematic review of literature.

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

An unusual presentation of bobble-head doll syndrome in a patient with hydranencephaly and Chiari 3 malformation.

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

Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly.

American journal of medical genetics. Part A
2019

An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia.

European journal of human genetics : EJHG
2019

Aerodigestive and communicative behaviors in anencephalic and hydranencephalic infants.

Birth defects research
2019

First genomic detection of Peaton virus in a calf with hydranencephaly in Israel.

Veterinary medicine and science
2018

Cabergoline versus bromocriptine for the treatment of giant prolactinomas: A quantitative and systematic review.

Metabolic brain disease
2018

Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus.

Pediatric radiology
2018

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.

Molecular genetics &amp; genomic medicine
2018

Prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia.

Taiwanese journal of obstetrics &amp; gynecology
2018

Malformations attributed to the process of vascular disruption.

Birth defects research
2018

[Treatment with sublingual desmopressin in two infants with hydranencephaly and central diabetes insipidus].

Archivos argentinos de pediatria
2017

Discrepancy Between Cerebral Structure and Cognitive Functioning: A Review.

The Journal of nervous and mental disease
2018

Seroprevalence of Schmallenberg virus in dairy cattle in Ethiopia.

Acta tropica
2017

Teratogenic bluetongue and related orbivirus infections in pregnant ruminant livestock: timing and pathogen genetics are critical.

Current opinion in virology
2017

Congenital arthrogryposis-hydranencephaly syndrome caused by Akabane virus in newborn calves of Basrah Governorate, Iraq.

Veterinary world
2017

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

Korean journal of pediatrics
2017

A large-scale serological survey of Akabane virus infection in cattle, yak, sheep and goats in China.

Veterinary microbiology
2017

Diagnosis and treatment of herpes simplex 1 virus infection in pregnancy.

Obstetric medicine
2017

Choroid plexus cauterization on treatment of hydranencephaly and maximal hydrocephalus.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2017

Heparan Sulfate Proteoglycan Is an Important Attachment Factor for Cell Entry of Akabane and Schmallenberg Viruses.

Journal of virology
2017

Evidence of extensive renewed Schmallenberg virus circulation in Belgium during summer of 2016 - increase in arthrogryposis-hydranencephaly cases expected.

Transboundary and emerging diseases
2017

A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.

Journal of medical genetics
2017

Infant outcomes among women with Zika virus infection during pregnancy: results of a large prenatal Zika screening program.

American journal of obstetrics and gynecology
2016

Prevalence of Antibodies to Zika Virus in Mothers from Hawaii Who Delivered Babies with and without Microcephaly between 2009-2012.

PLoS neglected tropical diseases
2017

Hydranencephaly in Monochorionic-Diamniotic Twins.

Pediatric neurology
2016

Characterization of Shuni viruses detected in Israel.

Virus genes
2016

A Case of Hydranencephaly in Which Ophthalmic Examinations Were Performed.

Case reports in ophthalmology
2016

A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly.

Gene
2016

A lethal phenotype associated with tissue plasminogen deficiency in humans.

Human genetics
2015

[Vascular disruption birth defects are not associated to chromosomal alterations].

Ginecologia y obstetricia de Mexico
2016

Glioblastoma in hemihydranencephaly: preoperative and postoperative language ability of the right hemisphere.

Acta neurochirurgica
2016

Bilateral population receptive fields in congenital hemihydranencephaly.

Ophthalmic &amp; physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists)
2016

Zika Virus Infection and Stillbirths: A Case of Hydrops Fetalis, Hydranencephaly and Fetal Demise.

PLoS neglected tropical diseases
2015

Congenital multi-organ malformations in a Holstein calf.

Veterinary research forum : an international quarterly journal
2016

Seroprevalence of Schmallenberg virus infection in sheep and goats flocks in Germany, 2012-2013.

Veterinary medicine and science
2016

SEVERE HYDROCEPHALUS, KIDNEY AND SKELETAL ANOMALIES IN A FEMALE PATIENT WITH MILD NEUROLOGICAL ALTERATIONS.

Genetic counseling (Geneva, Switzerland)
2016

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

Pediatric neurology
2015

TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.

Scientific reports
2015

Hydranencephaly: Considering Prolonged Survival and Treatment by Endoscopic Choroid Plexus Coagulation.

Turkish neurosurgery
2015

Schmallenberg disease in sheep or goats: Past, present and future.

Veterinary microbiology
2015

Profound Bradycardia After Intrathecal Baclofen Injection in a Patient With Hydranencephaly.

Pediatric neurology
2015

Virus-induced congenital malformations in cattle.

Acta veterinaria Scandinavica
2015

Central nervous system injury in utero: selected entities.

Pediatric radiology
2015

Generation of a Recombinant Akabane Virus Expressing Enhanced Green Fluorescent Protein.

Journal of virology
2015

Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.

Frontiers in neuroscience
2015

Hyperbole as Harmful as Cocaine.

Birth defects research. Part A, Clinical and molecular teratology
2015

Increased expressions of ADAMTS-13, neuronal nitric oxide synthase, and neurofilament correlate with severity of neuropathology in Border disease virus-infected small ruminants.

PloS one
2016

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy.

Clinical genetics
Ver todos os 330 no EuropePMC

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Comunidades

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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. A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications.
    European journal of human genetics : EJHG· 2026· PMID 40133703mais citado
  2. Hydranencephaly and porencephaly predominated among neuropathologic findings in stillborn and neonatal piglets during the first major outbreak of Japanese encephalitis in Australia.
    Veterinary pathology· 2026· PMID 41738435mais citado
  3. The Evolution of Cephalocentesis in Contemporary Obstetric Practice: From Emergency Intervention to Planned Procedure.
    Fetal diagnosis and therapy· 2026· PMID 41553942mais citado
  4. A neutralizing antibody protects Kunming mice against AKAV lethal challenge.
    BMC veterinary research· 2026· PMID 41514363mais citado
  5. Research progress on the N gene of Akabane virus.
    Frontiers in veterinary science· 2025· PMID 41070379mais citado
  6. [Hydranencephaly in a newborn calf after intrauterine BTV-3 infection in a beef cattle herd in Saxony/Germany].
    Tierarztl Prax Ausg G Grosstiere Nutztiere· 2026· PMID 41956352recente
  7. Cattle Abortions and Congenital Malformations Due to Bluetongue Virus Serotype 3 in Southern Belgium, 2024.
    Viruses· 2025· PMID 41157629recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2177(Orphanet)
  2. MONDO:0016344(MONDO)
  3. GARD:6681(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. Q2565270(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

Hidranencefalia
Compêndio · Raras BR

Hidranencefalia

ORPHA:2177 · MONDO:0016344
Prevalência
Unknown
Herança
Autosomal recessive, Unknown
CID-10
Q04.3 · Outras deformidades por redução do encéfalo
CID-11
Início
Antenatal, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0020225
EuropePMC
Wikidata
Wikipedia
Papers 10a
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