Raras
Buscar doenças, sintomas, genes...
Onfalocelo
ORPHA:660CID-10 · Q79.2CID-11 · LB01OMIM 310980DOENÇA RARA

Onfalocele é uma má-formação que acontece no bebê ainda na barriga da mãe, classificada no grupo de defeitos na formação da parede abdominal. Ela se caracteriza por uma hérnia grande na parede do abdômen, bem na região do umbigo, onde os órgãos internos que ficam para fora são protegidos por uma bolsa.

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Introdução

O que você precisa saber de cara

📋

Onfalocele é uma má-formação que acontece no bebê ainda na barriga da mãe, classificada no grupo de defeitos na formação da parede abdominal. Ela se caracteriza por uma hérnia grande na parede do abdômen, bem na região do umbigo, onde os órgãos internos que ficam para fora são protegidos por uma bolsa.

Publicações científicas
2.404 artigos
Último publicado: 2026

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-5 / 10 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Europe
Início
Antenatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q79.2
🇧🇷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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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Características mais comuns

90%prev.
Onfalocele
Muito frequente (99-80%)
90%prev.
Marcador ultrassonográfico fetal de baixo risco
Muito frequente (99-80%)
90%prev.
Nascimento prematuro
Muito frequente (99-80%)
90%prev.
Concentração materna elevada de alfa-fetoproteína circulante
55%prev.
Defeito ventilatório restritivo
Frequente (79-30%)
5sintomas
Muito frequente (4)
Frequente (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 5 características clínicas mais associadas, ordenadas por frequência.

OnfaloceleOmphalocele
Muito frequente (99-80%)90%
Marcador ultrassonográfico fetal de baixo riscoFetal ultrasound soft marker
Muito frequente (99-80%)90%
Nascimento prematuroPremature birth
Muito frequente (99-80%)90%
Concentração materna elevada de alfa-fetoproteína circulanteElevated maternal circulating alpha-fetoprotein concentration
Muito frequente90%
Defeito ventilatório restritivoRestrictive ventilatory defect
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico2.404PubMed
Últimos 10 anos200publicações
Pico202595 papers
Linha do tempo
2026Hoje · 2026🧪 2010Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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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-clínico4
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 4 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Onfalocelo

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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

20 ensaios clínicos encontrados.

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

Timeline de publicações
782 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 782

#1

Early postnatal C-reactive protein elevation during initial hospitalization in neonates with giant omphalocele undergoing delayed repair.

Frontiers in pediatrics2026

To preliminarily describe the dynamic changes and clinical characteristics of serum C-reactive protein (CRP) in giant omphalocele (GO) neonates with delayed repair during the early postnatal period. A retrospective study included 15 neonates with GO who underwent delayed repair at our hospital. CRP was collected at 0, 5, 7, 10, 14, 21 days after birth and before discharge. Data on hospital stay duration, complications, and anti-infection treatment were recorded. Descriptive statistics were used to present the trend of CRP changes, and the relationship with clinical indicators was preliminarily analyzed. Among the 15 full-term neonates (average gestational age 38.5 weeks, birth weight 2,821 g), CRP reached a peak value on the 5th day after birth (median 87.1 mg/L), followed by a decreasing trend but remaining at a high level (78.0, 67.2, and 48.0 mg/L on the 7th, 10th, and 14th days, respectively). The peak CRP level was positively correlated with the hospital stay duration (R = 0.78, p = 0.001). 73.3% (11/15) of the GO neonates received empirical antibiotic treatment (average course of 11 days), while the pathogen positivity rate was only 20% (3/15), and all were cultured from the sac membrane secretions. Based on the duration of continuous CRP elevation as the classification criterion, it was found that neonates with a longer duration of elevated CRP had larger defects, longer hospital stays, and longer time to achieve full enteral nutrition. Neonates with GO undergoing delayed repair exhibit significant CRP elevation in the early postnatal period, but this rise correlates poorly with proven infection. Clinicians need to carefully interpret the changes in CRP and avoid excessive anti-infection treatment. This retrospective study provides preliminary data and hypothesis basis for subsequent large-sample studies.

#2

Ultrastructural and Immunohistochemical Alterations in Muscle and Vascular Tissues in Patients with Omphalocele.

International journal of molecular sciences2026 Feb 01

Omphalocele is a congenital abdominal wall defect whose underlying muscular and fascial structural characteristics remain incompletely understood. This study aimed to investigate the anatomical and ultrastructural features of the abdominal wall in patients with omphalocele to provide additional insight into tissue organization at the defect margins. We report a series of 11 term-born patients diagnosed with omphalocele between 2024 and 2025 who were admitted to a pediatric surgery department for operative management. Following informed consent from legal guardians, two small intraoperative biopsies were obtained during surgical repair from the rectus abdominis muscle and its anterior aponeurosis, sampled from the supraumbilical and subumbilical regions. Tissue specimens were fixed within 48 h and analyzed using conventional histopathology and scanning electron microscopy to assess potential structural and ultrastructural alterations. The combined microscopic approaches allowed for a detailed evaluation of muscle and aponeurotic architecture in different abdominal regions. These observations contribute to a more comprehensive understanding of abdominal wall tissue characteristics in omphalocele and may support improved interpretation of the structural changes associated with this congenital condition.

#3

Proxy-reported health-related quality of life in children with omphalocele: a cross-sectional study in China.

Translational pediatrics2026 Jan 31

Omphalocele is a congenital anomaly requiring complex treatment. Existing evidence on the health-related quality of life (HRQoL) in omphalocele is limited by small sample sizes, inconsistent findings, and a lack of data from Chinese populations. This study aimed to quantify HRQoL in children with omphalocele using the Pediatric Quality of Life Inventory (PedsQL) in a relatively large patient cohort and to identify demographic and clinical factors associated with children's HRQoL. We conducted a cross-sectional, questionnaire-based study among caregivers of children with omphalocele treated at the Children's Hospital, Zhejiang University School of Medicine in Hangzhou, China. In total, caregivers of 124 children were recruited and completed the questionnaire. HRQoL was assessed using the Chinese version of PedsQL Infants Scales (parent-proxy for infants/toddlers aged 1-24 months) and PedsQL Generic Core Modules (GCM) (parent-proxy for children aged 2-4 years). Additionally, demographic and clinical information were also collected via questionnaires. Differences in HRQoL scores across subgroups were assessed by two-independent-samples t-tests and one-way analysis of variance (ANOVA). Multivariate linear regression analysis was performed to identify the determinants associated with children's HRQoL. Among 124 children, the median age was 2.0 years, and 46.8% were girls. For children aged 1-24 months, the total score and scores of certain scales (i.e., physical functioning, physical symptoms, emotional functioning, cognitive functioning) were significantly lower in patients than scores in the healthy controls (P values <0.05) with the effect sizes ranging from 0.33 to 0.86. For children aged 2 to 4 years, the total score and the scores on three scales (i.e., physical, emotional, and social functioning) were statistically significantly higher in patients than in healthy controls (P values <0.05), with effect sizes ranging from 0.53 to 0.94. Age and the presence of other malformations were significantly associated with the total score of PedsQL GCM (P values <0.05). The HRQoL of children under 2 years of age with omphalocele is lower than that of healthy children. With increasing age, the HRQoL of children with omphalocele improves, whereas the presence of additional malformations has a negative impact on their HRQoL.

#4

Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.

Clinical genetics2026 Mar

Otopalatodigital spectrum disorders (OPDSD), comprising otopalatodigital syndromes types 1 and 2 (OPD1, OPD2) and frontometaphyseal dysplasia (FMD), are rare X-linked disorders caused by FLNA gene variants, with phenotypes ranging from mild skeletal anomalies to severe multisystem malformations. We describe two unrelated cases: a 14-year-old male (P1, FMD) and an aborted fetus (P2, OPD2). Whole-exome sequencing identified hemizygous maternally inherited FLNA gene variants in P1 (c.733G>A; p.Glu245Lys) and P2 (c.3707G>A; p.Gly1236Asp, novel), expanding the OPD2 mutational spectrum (NM_001110556). P1 presented with facial dysmorphism, dental anomalies, flattened thumbs, and dermatoglyphic changes; P2 showed facial dysmorphism, skeletal and cardiac malformations, and omphalocele. These cases underscore the breadth of OPDSD phenotypic variability and add novel genetic data. Dental management demands multidisciplinary care from infancy through adolescence, including cleft repair, orthodontics for micrognathia and facial aesthetics, and treatment of dental anomalies. Early recognition, molecular diagnosis, and coordinated management are critical for improving outcomes in these complex disorders.

#5

ERNICA evidence based guideline on omphalocele.

Orphanet journal of rare diseases2026 Mar 07

Publicações recentes

Ver todas no PubMed

📚 EuropePMC1.104 artigos no totalmostrando 198

2026

Early postnatal C-reactive protein elevation during initial hospitalization in neonates with giant omphalocele undergoing delayed repair.

Frontiers in pediatrics
2026

Perioperative Care of a Four-Year-Old Child With Teebi Hypertelorism Syndrome: A Rare Craniofacial Disorder.

Journal of medical cases
2026

Patient-Reported Long-Term Gastrointestinal Outcomes in Children with Omphalocele and Gastroschisis: A PedsQL GI Module Study.

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie
2026

ERNICA evidence based guideline on omphalocele.

Orphanet journal of rare diseases
2026

A Pilot Study to Advance Task-Sharing of Gastroschisis Management in Uganda.

Annals of global health
2026

Twin paradox: Monoamniotic twin pregnancy discordant for limb body wall complex: Presentation of a rare syndrome with a review of embryology.

Ultrasound (Leeds, England)
2026

A Population-Based Study of U.S. Trends in Selected Congenital Anomalies (2016-2023) and Socio-Demographic Disparities: A CDC WONDER Analysis.

Children (Basel, Switzerland)
2026

Otopalatodigital Syndrome Type 2: A Case Report.

Neonatal network : NN
2026

Corrigendum: Giant Omphalocele: Systematic Review of Pulmonary Complications and Implications for Neonatal Care.

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie
2026

Unraveling the genetic basis of omphalocele: A systematic review.

Journal of pediatric surgery
2026

Enhancing rare disease guideline development with real-world data: a method evaluation.

BMC medical research methodology
2026

Ultrastructural and Immunohistochemical Alterations in Muscle and Vascular Tissues in Patients with Omphalocele.

International journal of molecular sciences
2026

Proxy-reported health-related quality of life in children with omphalocele: a cross-sectional study in China.

Translational pediatrics
2026

Vaginal Reconstruction Using Urinary Bladder Tissue in a Patient with OEIS Complex: A Case Report.

Journal of pediatric and adolescent gynecology
2026

[Prenatal ultrasound manifestations and postnatal follow-up of fetuses with 22q11.2 microdeletion syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

A Historical Review of Gastroschisis: Evolution of Understanding, Diagnosis, and Surgical Management.

Children (Basel, Switzerland)
2026

A Case of Familial CDKN1C-Related Beckwith-Wiedemann Syndrome.

Prenatal diagnosis
2026

The Relationship between Social Vulnerability Index, Area Deprivation Index, and Child Opportunity Index, and Treatment Course Characteristics in Infants with Surgically Intervenable Congenital Anomalies.

American journal of perinatology
2026

Multidisciplinary perioperative management of cloacal exstrophy bladder closure: A single institution's approach.

Journal of pediatric urology
2026

CRISPR-Cas9-Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel-Gruber Syndrome Phenotype.

Genesis (New York, N.Y. : 2000)
2025

Surgeon annual volume impacts recurrence rates of pediatric inguinal hernia repairs: A multi-institutional study.

Journal of pediatric surgery
2025

Beyond the Diagnosis: A Journey of an 8-Year-Old Girl with Patau Syndrome: Case Report.

Children (Basel, Switzerland)
2025

Long-term follow-up of scar quality and satisfaction after surgical closure of congenital abdominal wall defects: a single center perspective.

Pediatric surgery international
2025

Loss of the Maternal Effect Gene NLRP2 Impairs Embryonic and Extra-Embryonic Development, Revealing a Novel Genetic Cause of Congenital Anomalies†.

Biology of reproduction
2025

Prospective outlook on negative pressure wound therapy (NPWT) for gastroschisis and ruptured omphalocele: A scoping review.

The Medical journal of Malaysia
2026

An Atypical Presentation of a Large Congenital Umbilical Cord Hernia Antenatally Diagnosed as an Omphalocele With the Sole Left Lobe of the Liver: A Case Report.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2026

Can Prenatal Ultrasonographic Markers Predict Enteral Feeding Tolerance in Neonates With Fetal Omphalocele?

Prenatal diagnosis
2025

Omphalocele and patent omphalomesenteric duct with ileal prolapse in a syndromic baby: A case report and review of the literature.

International journal of surgery case reports
2025

Obstructive uropathy in a female infant with a single kidney: Unmasking congenital urethral stenosis: A case report and review of the literature.

International journal of surgery case reports
2025

Open cholecystectomy via liver evisceration with a history of neonatal malrotation and omphalocele.

BMJ case reports
2025

A multi-institutional comparison of management techniques for infants with giant omphalocele.

Journal of pediatric surgery
2026

Ultrasound findings of abdominal compartment syndrome after omphalocele repair.

Pediatric radiology
2025

Clinical and Molecular Evaluation of Beckwith-Wiedemann Syndrome with the BWSICS Score.

Molecular syndromology
2025

Anterolateral thigh flap combined with free fascia lata graft for an adult abdominal wall defect reconstruction: a special case report.

Frontiers in surgery
2025

Surgical Repair of Tetralogy of Fallot and a Large Congenital Diaphragmatic Hernia in a 16-Week-Old Infant With Pentalogy of Cantrell and a Large Omphalocele: A Case Report.

World journal for pediatric &amp; congenital heart surgery
2025

Fetus in Fetu Presenting as a Second Head: A Rare Case Report with Pathologic Correlation.

Fetal and pediatric pathology
2025

Extremely Rare Co-occurrence of Left Gastroschisis-Like Abdominal Wall Defect and an Omphalocele in a Very Low Birth Weight Infant: A Case Report.

Surgical case reports
2025

Maternal Health Literacy and Prenatal Learning Experiences Related to Diagnosis and Surgical Management: A Qualitative Study of Women With Pregnancies Associated With Surgically Correctable Congenital Anomalies.

Prenatal diagnosis
2026

High-volume hospitals experience fewer postoperative complications after neonatal surgery: Analyses of the National Clinical Database Pediatric Surgical Registry in Japan.

Journal of pediatric surgery
2025

Maternal and offspring outcomes associated with prescribed ADHD medication in pregnancy: a systematic review.

Archives of women's mental health
2025

The effect of imaging evaluation on surgery for giant omphalocele: a case description.

Quantitative imaging in medicine and surgery
2025

Neonatal demise from a complex abdominal wall defect in a low-resource setting: A case study on the consequences of a fractured perinatal care cascade.

Radiology case reports
2025

Borderline Z-scores in non-invasive prenatal screening: does its presence hold clinical significance?

Archives of gynecology and obstetrics
2025

Concurrent Prolapsed Omphalocele and Giant Hepatic Cyst Initially Suspected as an Umbilical Cord Cyst in the Prenatal Period: A Case Report.

Surgical case reports
2025

Hyperbaric oxygen treatment of neonates: a case series.

Diving and hyperbaric medicine
2025

Neurodevelopmental disorders in children with congenital abdominal wall defects: a national population-based study.

Pediatric surgery international
2025

Hand1 gene replacement with Hand2 reveals overlap in function with unique occurrence of omphalocele and heart defects.

Development (Cambridge, England)
2025

Clinical phenotype and molecular genetic analysis of 24 cases of Beckwith-Wiedemann syndrome.

Translational pediatrics
2025

Leveraging Health Insurance Claims Data to Complement the Centers for Disease Control and Prevention Surveillance System for Birth Defects.

Birth defects research
2026

Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.

Clinical genetics
2025

Prevalence of Congenital Malformations in the Oriental Region of Morocco.

Cureus
2025

Thyroid Hormone Deficiency Disrupts Embryonic Ventral Body Wall Development and Myogenesis With Partial Recovery Following LevothyroxineTherapy.

Birth defects research
2025

Challenges in prenatal care of ectopic cordis: Case series and literature review.

Radiology case reports
2025

Haploinsufficiency of ABL1 is associated with dominant isolated omphalocele.

Frontiers in cell and developmental biology
2025

Mind the right ventricle: Tackling right heart dysfunction in left ventricular diverticulum with omphalocele.

Journal of clinical imaging science
2025

[Beckwith-Wiedemann syndrome with ganglioneuroblastoma: a case report].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
2025

Late-onset midgut volvulus 8 years following a neonatal omphalocele repair: a case report and review.

Journal of surgical case reports
2025

Prenatal detection rate of congenital anomalies over a period of 30 years: A population-based registry study.

European journal of obstetrics, gynecology, and reproductive biology
2025

Partial Glossectomy in a 2-month-old Infant with Beckwith-Wiedemann Syndrome - A Case Report.

Annals of maxillofacial surgery
2025

Distinguishing omphalocele from pseudo-omphalocele, highlighting the ultrasonography pitfall: a case report.

Journal of medical case reports
2025

Delayed primary surgery and outcomes in children with gastrointestinal anomalies in 264 hospitals and 74 countries.

American journal of epidemiology
2025

Distal Ileal Atresia in a Preterm Infant with Minor Omphalocele: A Case Report.

Surgical case reports
2026

Giant Omphalocele: Systematic Review of Pulmonary Complications and Implications for Neonatal Care.

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie
2025

Prevalence of Critical Congenital Heart Defects Among Neonates Born With Abdominal Wall Defects.

Prenatal diagnosis
2025

Gastroschisis - current options for prenatal diagnosis and subsequent management.

Ceska gynekologie
2025

Systematic Review of the Prevalence of Gastrointestinal Congenital Anomalies: A Global and Regional Review Protocol.

Sage open pediatrics
2025

The Global Burden of Major Gastrointestinal Anomalies: A Global, Systematic Review of Gastrointestinal Anomaly Birth Prevalence.

Sage open pediatrics
2025

Associations Between Fetal Genetic Abnormalities, Lesion Size, and Postnatal Outcomes Among Pregnancies Complicated by Fetal Omphalocele.

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

Vaginal Delivery in Cases of Prenatally Diagnosed Omphalocele: Feasibility and Outcomes.

Prenatal diagnosis
2025

Sigmoid colon duplication associated with urogenital malformations: A rare case report.

International journal of surgery case reports
2025

Renal MRI radiomics in Beckwith-Wiedemann syndrome: a novel imaging approach for genotype identification.

Orphanet journal of rare diseases
2025

Clinical Utility of Indocyanine Green Fluorescence in Neonatal Surgery: A Single-Center Study and Systematic Review.

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie
2025

Maternal Prenatal Cannabis Use and Major Structural Birth Defects.

Birth defects research
2025

Third trimester diagnosis of body stalk anomaly in a dichorionic diamniotic twin pregnancy.

BMJ case reports
2025

A 19-Month-Old Girl With Acute Choledocholithiasis: A Case Report.

Cureus
2025

Risk factors for neural tube defects in the war and siege-affected tigray regional state of ethiopia: a case-control study.

BMC pregnancy and childbirth
2025

Long-Term Pulmonary Function Outcomes in Children with Pulmonary Hypoplasia.

The Journal of pediatrics
2025

Aberrant Splicing Caused by Compound Heterozygous Variants in WDR35 Identified in a Fetus With Cranioectodermal Dysplasia 2.

Prenatal diagnosis
2025

Imaging of the umbilicus.

Abdominal radiology (New York)
2025

Deep clinical and genetic analysis of 17p13.3 region: 38 pediatric patients diagnosed using next-generation sequencing and literature review.

BMC medical genomics
2025

European Paediatric Surgeons' Association Consensus Statement on the Management of Giant Omphalocele.

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie
2025

Unique Case of Epigastric Heteropagus Twins: A Surgical Challenge.

Cureus
2025

Contribution of nationwide medico administrative data on congenital anomalies in France: Validation study on congenital diaphragmatic hernia.

Journal of epidemiology and population health
2025

Beyond the womb: prenatal MRI's prognostic abilities for morbidity and mortality in neonates with omphaloceles.

Journal of perinatology : official journal of the California Perinatal Association
2025

Maternal Cell-Free DNA Analysis in a Fetus Affected by Beckwith-Wiedemann Syndrome: Potential for Prenatal Diagnosis.

Cureus
2025

Mosaic trisomy 18 at amniocentesis in a pregnancy associated with omphalocele, intrauterine growth restriction, trisomy 18 placenta, an elevated sFlt-1/PlGF ratio and an adverse perinatal outcome in the fetus.

Taiwanese journal of obstetrics &amp; gynecology
2025

Pediatric Perioperative Mortality in Southeastern (SE) Nigeria-A Multicenter, Prospective Study.

Nigerian journal of clinical practice
2025

The Value of Nuchal Translucency (NT) Ultrasonography for Fetal Malformation Screening.

Nigerian journal of clinical practice
2025

Insights into Congenital Body Stalk Anomaly Coupled with Placenta Accreta Conditions: A Case Report.

The American journal of case reports
2025

Tissue expansion in the pediatric patient: A 23-year single-institution experience.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2025

Ectopia cordis with multiple congenital malformations: rare but real.

Journal of ultrasound
2025

Elective Terminations Because of Fetal Abnormalities: Findings in A Tertiary Maternity Center Over 41 Years (1972-2012).

American journal of medical genetics. Part A
2025

Anesthesia for Pentalogy of Cantrell with Surgical Repair of Tetralogy of Fallot Along with Absent Diaphragm: A Case Study.

Annals of cardiac anaesthesia
2025

Management of an omphalocele with ileal perforation: A case report.

International journal of surgery case reports
2025

Navigating cholecystitis in an ectopic pelvic liver: a surgical challenge after omphalocele repair.

Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract
2025

Reconstruction of a Sternal Cleft and Ventral Hernia in an Adolescent with Pentalogy of Cantrell Utilizing Titanium Plates.

The American surgeon
2025

Omphalocele and Associated Anomalies: Exploring Pulmonary Development and Genetic Correlations-A Literature Review.

Diagnostics (Basel, Switzerland)
2025

Navigating the intricacies of a term neonate with coexistent giant omphalocele, right diaphragmatic hernia and partial Cantrell's pentalogy.

BMJ case reports
2025

The Prognostic Impact of Defect Size Based on Body Surface Area in Omphaloceles.

Journal of pediatric surgery
2025

Concomitant omphalocele, craniorachischisis and ectopic cordis associated with trisomy 18 diagnosed in first trimester.

Taiwanese journal of obstetrics &amp; gynecology
2025

Population-based assessment of major congenital malformations in the United States: smoking risk association.

Journal of developmental origins of health and disease
2025

Maternal Diarrhea During the Periconceptional Period and the Risk of Birth Defects, National Birth Defects Prevention Study, 2006-2011.

Birth defects research
2025

The Relationship Between Socioeconomic Status and Omphalocele Prevalence.

Journal of pediatric surgery
2025

Unravelling complexity: simultaneous detection of fetal omphalocele and myelomeningocele misdiagnosed as sacrococcygeal teratoma.

BMJ case reports
2025

A Teen With Trisomy 18: Challenges and Triumphs of a Long Life With Edwards Syndrome.

Cureus
2025

Unexpected Detection of Cephalad Renal Ectopia Due to Large Omphalocele Containing the Liver on Tc-99m DMSA Scintigraphy.

Molecular imaging and radionuclide therapy
2025

Complete pentalogy of Cantrell associated with ectopia cordis and multiple anomalies: A case report from a low-resource setting.

Radiology case reports
2025

Global birth prevalence of major congenital anomalies: a systematic review and meta-analysis.

BMC public health
2025

Prenatal diagnosis of congenital anomalies and birth institution complexity levels in Argentina.

Journal of community genetics
2025

Placental Membrane Transplantation: Can It Be A Solution For Tissue Defect Repair In Giant Omphaloceles.

Transplantation proceedings
2025

Combined negative pressure wound therapy with new wound dressings to repair a ruptured giant omphalocele in a neonate: a case report and literature review.

BMC pediatrics
2025

Pre- and postnatal botulinum toxin abdominal wall muscle relaxation in hepato-omphalocele.

Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica
2024

Neurosurgical strategy based on the type of occult spinal dysraphism in omphalocele-exstrophy-imperforate anus-spinal defects complex: A review of 10 cases.

Surgical neurology international
2024

Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.

European journal of pediatrics
2025

A Whole MED12 Gene Deletion in a Female Fetus With Features Encountered in Hardikar Syndrome.

Prenatal diagnosis
2025

[Clinical characteristics and risk factors for adverse outcomes in omphalocele].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2024

Bladder exstrophy-epispadias-cloacal exstrophy complex: characteristics, aetiologies, and epidemiologic findings.

African urology
2025

A rare presentation of OEIS complex in a spontaneous dizygotic twin pregnancy: A case report and literature review.

Radiology case reports
2025

Surgical management of a massive omphalocele in a newborn: A case report study.

International journal of surgery case reports
2024

Anterior abdominal wall defects and their management outcomes in Tikur Anbessa Specialized Hospital, neonatal intensive care unit.

JPGN reports
2024

Omphalocele prevalence and co-occurring malformations: a nationwide register-based study of Danish live births in 1997-2021.

Pediatric surgery international
2024

The Role of Antenatal Ultrasound Scans in the Early Detection of Alobar Holoprosencephaly: A Case Report.

Cureus
2024

Outcomes of Gastroschisis and Omphalocele Treated at Children's Surgery Verified Centers in Texas.

The Journal of surgical research
2024

Temporal trends in the prevalence of major birth defects in China: a nationwide population-based study from 2007 to 2021.

World journal of pediatrics : WJP
2024

Prenatal diagnosis and postnatal follow-up of 15 fetuses with 16p13.11 microduplication syndrome.

Frontiers in genetics
2025

Optimal Strategies for Screening Common Birth Defects in Children of Low- and Middle-Income Countries: A Systematic Review.

Neonatology
2024

Case Report: Tissue Expanders-Another Tool in the Armamentarium for the Treatment of Complex Ventral Hernia.

Journal of abdominal wall surgery : JAWS
2024

Management of cloacal exstrophy: Experience from tertiary hospital, Tanzania. Case series.

International journal of surgery case reports
2024

A case of isolated malrotation without midgut volvulus diagnosed prenatally and treated by laparoscopic surgery.

Surgical case reports
2024

Comparison of total prevalence, perinatal prevalence, and livebirth prevalence of birth defects in Hunan Province, China, 2016-2020.

Frontiers in public health
2024

Prenatal diagnosis of omphalocele with extracorporeal liver.

Radiology case reports
2025

The application value of prenatal ultrasound in conjoined twins.

Journal of clinical ultrasound : JCU
2024

Giant omphalocele with right lung agenesia and bronchial tracheal hypoplasia: A case report.

Radiology case reports
2024

Embryonic Thyroid Hormone Insufficiency Causes Structural Anomalies in the Embryo of Domestic Chick, Gallus domesticus.

Anatomia, histologia, embryologia
2024

Perinatal outcomes of antenatally diagnosed omphalocele and gastroschisis: a survey from a university hospital.

Journal of the Turkish German Gynecological Association
2024

Congenital Umbilical Cord Hernia: Prenatal and Postnatal Management.

AJP reports
2024

Prenatal diagnosis of recurrent Kagami-Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review.

BMC medical genomics
2024

Limited Role of MSAFP Screening for Prenatal Omphalocele Detection.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
2024

Long-Term Assessment of Aesthetic Results in Omphalocele Repair with POSAS Scale.

Aesthetic plastic surgery
2024

International treatment outcomes of neonates on extracorporeal membrane oxygenation (ECMO) with persistent pulmonary hypertension of the newborn (PPHN): a systematic review.

Journal of cardiothoracic surgery
2024

Thoracic ectopia cordis: A case report.

Medwave
2024

Morbidity in giant omphaloceles: Predictive factors and management strategies.

Acta paediatrica (Oslo, Norway : 1992)
2024

Prenatal Prognosis of Omphalocele Using Magnetic Resonance Imaging Measurement of Fetal Lung Volumes.

American journal of obstetrics &amp; gynecology MFM
2024

Ruptured giant omphalocele with congenital short small intestine: a case report.

Frontiers in nutrition
2024

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

American journal of obstetrics &amp; gynecology MFM
2024

Clinical characteristics and outcome of omphalocele and gastroschisis: a 20-year multicenter regional experience.

Pediatric surgery international
2024

Two Congenital Gastrointestinal Malformations: A Case of Omphalocele and Meckel's Diverticulum in a Neonate.

Cureus
2024

Managing giant omphalocele: A systematic review of surgical techniques and outcomes.

Acta paediatrica (Oslo, Norway : 1992)
2023

Phenotypic and cytogenetic variability of patau syndrome in Morocco.

African health sciences
2024

Use of a new vertical traction device for early traction-assisted staged closure of congenital abdominal wall defects: a prospective series of 16 patients.

Pediatric surgery international
2024

[Analysis of Prenatal Ultrasound Manifestations in 15 Cases of Cantrell Syndrome].

Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition
2024

Prenatal Diagnosis of Beckwith-Wiedemann Syndrome with Omphalocele.

NeoReviews
2024

BODY STALK ANOMALY: CLINICAL AND HISTOPATHOLOGIC FINDINGS OF THIS RARE ANOMALY IN A NIGERIAN NEWBORN.

Annals of Ibadan postgraduate medicine
2024

Congenital anomalies in Santa Catarina, Southern Brazil: macroregional and temporal birth prevalence for the period 2011-2020.

Journal of community genetics
2024

Cloacal Exstrophy with Normal Penis and Urethra - A Rare Variant.

Journal of Indian Association of Pediatric Surgeons
2024

Acellular Bovine Pericardial Patch for Difficult Abdominal Closure in the Pediatric Population: Our Experience with Review of Literature.

Journal of Indian Association of Pediatric Surgeons
2024

Ovary and Fallopian Tube Displacement in an Adolescent Patient with a History of Omphalocele.

Journal of pediatric and adolescent gynecology
2024

Frequency of gastroschisis and omphalocele and possible influence of maternal folic acid supplementation. A narrative review.

Congenital anomalies
2024

Prune belly syndrome: A rare case report.

Clinical case reports
2024

Biallelic loss-of-function variants in the centriolar protein CCP110 leads to a ciliopathy-like phenotype.

European journal of medical genetics
2024

Clinical image of omphalocele: a rare congenital defect of the abdominal wall.

The Pan African medical journal
2024

Expanded phenotype and cancer risk in patients with Beckwith-Wiedemann spectrum caused by CDKN1C variants.

American journal of medical genetics. Part A
2024

Surgical Management of Omphalocele With Concurrent Ileal Atresia: A Case Report.

Cureus
2024

Expansion of the prenatal phenotype of Baraitser-Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome.

American journal of medical genetics. Part A
2024

A rare case of extremely low birth weight infant with Beckwith-Wiedemann syndrome.

International journal of surgery case reports
2024

Anatomic parameters of omphaloceles and their association with anatomic, genetic, or syndromic malformations: a retrospective study.

Pediatric surgery international
2024

A Comparative Analysis of Quality of Life in Children Managed for Omphalocele and Gastroschisis.

African journal of paediatric surgery : AJPS
2024

Beckwith-Wiedemann Syndrome With Severe Relapsing Hypoglycemia After the Neonatal Period: A Case Report and a Literature Review.

Cureus
2023

OBSTRUCTED CONGENITAL HERNIA OF UMBILICAL CORD IN A NIGERIAN NEWBORN AND ITS DIAGNOSTIC CONUNDRUM.

Annals of Ibadan postgraduate medicine
2024

Surgical technique for epigastric incisional hernia after omphalocele repair: bilateral modified composite flaps using the upper rectus abdominis muscle and the vertically inverted flap of the lower rectus abdominis fascia.

Journal of surgical case reports
2024

OIES complex diagnosed by in utero ultrasound a case report.

International journal of surgery case reports
2024

Novel Autopsy Findings in Premature Infant With Beckwith-Wiedemann Syndrome Uniparental Disomy: Multifocal Developmental Dysplastic Chrondromatous Lesions and Cortical Neuronal Heterotopias.

Fetal and pediatric pathology
2024

Open abdominal wall defects and open spina bifida at a regional hospital in northern KwaZulu-Natal - bellwether conditions for neonatal surgery capacity.

South African journal of surgery. Suid-Afrikaanse tydskrif vir chirurgie
2024

Understanding and managing a case of the omphalocele-exstrophy-imperforate anus-spinal defect complex.

Journal of surgical case reports
2024

Rapid detection of maternal origin of trisomy 18 by quantitative fluorescent polymerase chain reaction in a fetus associated with increased nuchal translucency thickness and omphalocele on first-trimester prenatal ultrasound.

Taiwanese journal of obstetrics &amp; gynecology
2024

LUMBAR syndrome-OEIS complex overlap: A case series and review.

American journal of medical genetics. Part A
2024

Limb-body wall complex: Literature review and case report.

Birth defects research
2024

[Gastroschisis and omphalocele: Incidence and outcome].

Laeknabladid
2024

Reassessing acquired neonatal intestinal diseases using unsupervised machine learning.

Pediatric research
2024

Investigation of a transient increase in omphalocele prevalence in a birth cohort of TRICARE beneficiaries.

Birth defects research
2024

Gastroschisis prevalence patterns in 27 surveillance programs from 24 countries, International Clearinghouse for Birth Defects Surveillance and Research, 1980-2017.

Birth defects research
2024

Mental Health Outcomes of Mothers of Children With Congenital Gastrointestinal Anomalies Are Similar to Control Mothers: A Longitudinal Retrospective Cohort Study.

Journal of pediatric surgery
2024

Monochorionic triplet pregnancy complicated by conjoined twins and early twin-twin transfusion syndrome.

Birth defects research
2024

Associations between maternal periconceptional alcohol consumption and risk of omphalocele among offspring, National Birth Defects Prevention Study, 1997-2011.

Preventive medicine
2025

Beckwith-Wiedemann Syndrome Diagnosed in the Early Second Trimester in Two Fetuses with Isolated Omphalocele.

Journal of medical ultrasound
2024

National population-based estimates for major birth defects, 2016-2020.

Birth defects research
2024

Rapid diagnosis of maternal origin of fetal trisomy 13 by quantitative fluorescent polymerase chain reaction in a pregnancy associated with young maternal age and omphalocele on prenatal ultrasound.

Taiwanese journal of obstetrics &amp; gynecology
2024

Temporal Trends of Neonatal Surgical Conditions in Texas and Accessibility to Pediatric Surgical Care.

The Journal of surgical research
2023

The Co-Existence of Patent Omphalomesenteric Duct and Omphalocele in Patau's Syndrome in Saudi Arabia: A Case Report.

Cureus
2023

Development of a low-cost congenital abdominal wall defect simulator (wall-go) for undergraduate medical education: a validation study.

BMC medical education
2024

De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex.

American journal of medical genetics. Part A
2023

Autonomous and non-cell autonomous role of cilia in structural birth defects in mice.

PLoS biology
2023

Neonate with an abnormal umbilicus.

Journal of the American College of Emergency Physicians open
2023

Retrospective Analysis of Neonatal Surgery at Tottori University over the Past Ten Years.

Yonago acta medica
2023

Enhancing Omphalocele Care: Navigating Complications and Innovative Treatment Approaches.

Cureus
2023

Giant omphalocele: A novel approach for primary repair in the neonatal period using botulinum toxin.

Revista do Colegio Brasileiro de Cirurgioes
2023

Echocardiographic measurements of left ventricular dimensions and function in newborns with omphalocele and pulmonary.

BMC pediatrics
2023

Unrepaired cloacal exstrophy in an adult: Medical and ethical considerations.

Urology case reports
Ver todos os 1.104 no EuropePMC

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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. Early postnatal C-reactive protein elevation during initial hospitalization in neonates with giant omphalocele undergoing delayed repair.
    Frontiers in pediatrics· 2026· PMID 41867931mais citado
  2. Ultrastructural and Immunohistochemical Alterations in Muscle and Vascular Tissues in Patients with Omphalocele.
    International journal of molecular sciences· 2026· PMID 41683881mais citado
  3. Proxy-reported health-related quality of life in children with omphalocele: a cross-sectional study in China.
    Translational pediatrics· 2026· PMID 41657450mais citado
  4. Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.
    Clinical genetics· 2026· PMID 40884164mais citado
  5. ERNICA evidence based guideline on omphalocele.
    Orphanet journal of rare diseases· 2026· PMID 41794806mais citado
  6. Prenatal detection of Gorlin-Goltz syndrome: a case report and focused review of the literature.
    Front Med (Lausanne)· 2026· PMID 41994461recente
  7. Case Report: Staged surgical repair and negative pressure wound therapy in congenital omphalocele.
    Front Pediatr· 2026· PMID 41929918recente
  8. Prolapsed Meckel's diverticulum through an intact omphalocele sac.
    BMJ Case Rep· 2026· PMID 41927138recente
  9. Pulmonary Hypertension Association with mortality in Newborns with Giant Omphalocele: A Systematic Review and Meta-Analysis.
    Neonatology· 2026· PMID 41911150recente
  10. Focused Clinical Observation of Functional Outcomes in Children With OEIS Complex.
    Congenit Anom (Kyoto)· 2026· PMID 41891914recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:660(Orphanet)
  2. MONDO:0019015(MONDO)
  3. GARD:16540(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Artigo Wikipedia(Wikipedia)
  6. Q1521567(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

Onfalocelo
Compêndio · Raras BR

Onfalocelo

ORPHA:660 · MONDO:0019015
Prevalência
1-5 / 10 000
Herança
Not applicable
CID-10
Q79.2 · Exonfalia
CID-11
OMIM
OMIM:310980
Início
Antenatal
Prevalência
0.0 (Europe)
MedGen
UMLS
C0795690
EuropePMC
Wikidata
Wikipedia
Papers 10a
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