Raras
Buscar doenças, sintomas, genes...
Extrofia da cloaca
ORPHA:93929CID-10 · Q64.1CID-11 · LB17.3DOENÇA RARA

Uma má-formação grave com a qual o bebê nasce, representando o lado mais sério de um grupo de problemas chamado complexo de extrofia-epispádia (EEC). É caracterizada por onfalocele (órgãos do abdômen para fora, cobertos por uma membrana), extrofia (bexiga ou outra parte interna exposta), ânus imperfurado (o ânus não tem abertura) e problemas na coluna. Essa condição também é conhecida como complexo OEIS e muitas vezes vem acompanhada de outras má-formações.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Uma má-formação grave com a qual o bebê nasce, representando o lado mais sério de um grupo de problemas chamado complexo de extrofia-epispádia (EEC). É caracterizada por onfalocele (órgãos do abdômen para fora, cobertos por uma membrana), extrofia (bexiga ou outra parte interna exposta), ânus imperfurado (o ânus não tem abertura) e problemas na coluna. Essa condição também é conhecida como complexo OEIS e muitas vezes vem acompanhada de outras má-formações.

Publicações científicas
543 artigos
Último publicado: 2026 Jan-Dec

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Europe
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q64.1
🇧🇷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

🫘
Rins
4 sintomas
🫃
Digestivo
3 sintomas
🦴
Ossos e articulações
2 sintomas
😀
Face
1 sintomas

+ 14 sintomas em outras categorias

Características mais comuns

90%prev.
Extrofia da cloaca
Muito frequente (99-80%)
90%prev.
Refluxo vesicoureteral
Muito frequente (99-80%)
90%prev.
Anormalidade do clitóris
Muito frequente (99-80%)
90%prev.
Extrofia da bexiga
Muito frequente (99-80%)
90%prev.
Onfalocele
Muito frequente (99-80%)
90%prev.
Hipoplasia do pênis
Muito frequente (99-80%)
24sintomas
Muito frequente (6)
Frequente (11)
Ocasional (7)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 24 características clínicas mais associadas, ordenadas por frequência.

Extrofia da cloacaCloacal exstrophy
Muito frequente (99-80%)90%
Refluxo vesicoureteralVesicoureteral reflux
Muito frequente (99-80%)90%
Anormalidade do clitórisAbnormality of the clitoris
Muito frequente (99-80%)90%
Extrofia da bexigaBladder exstrophy
Muito frequente (99-80%)90%
OnfaloceleOmphalocele
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico543PubMed
Últimos 10 anos194publicações
Pico202331 papers
Linha do tempo
2026Hoje · 2026🧪 2015Primeiro ensaio clínico📈 2023Ano 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

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-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Extrofia da cloaca

🗺️

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

1 ensaios clínicos encontrados.

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

Timeline de publicações
190 papers (10 anos)
#1

A Successful Single-Stage Reconstruction of an Isolated Female Epispadias in a 14-Year-Old Patient: A Case Report and Literature Review.

International medical case reports journal2026

Epispadias is a rare congenital disorder characterized by an abnormal dorsal opening of the urethra due to the failure of the urethral plate to tubularize. It is usually part of broader conditions like bladder or cloacal exstrophy and rarely occurs in isolation. We present the case of a 14-year-old girl with isolated epispadias who had lifelong urinary incontinence without urgency. Genital examination revealed a bifid clitoris, underdeveloped labia minora, and a widely open urethral meatus with continuous leakage of urine. Urethrocystoscopy showed a short, patulous urethra, a poorly coapting external sphincter, and an open bladder neck. She underwent a successful single-stage surgical repair consisting of urethroplasty, bladder neck reconstruction, and perineoplasty. Two weeks after surgery, following catheter removal, the patient achieved urinary continence. This case supports the effectiveness of single-stage reconstruction even in delayed presentations of isolated female epispadias.

#2

Psychiatric morbidity in bladder exstrophy-epispadias complex: A systematic review with a population-based case-control study.

Journal of pediatric urology2026 Feb 05

Bladder exstrophy and epispadias complex is a rare congenital anomaly with significant medical and psychosocial implications. We employed a dual approach to evaluate the prevalence and risk factors of psychiatric morbidity in bladder exstrophy and epispadias patients, by combining a systematic review with a retrospective national registry study. To evaluate the prevalence and risk factors of psychiatric morbidity in bladder exstrophy and epispadias complex. We conducted a systematic literature review following Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines, including studies on psychiatric disorders or symptoms and quality of life in bladder exstrophy and epispadias patients of all ages. Article quality was assessed using the Newcastle-Ottawa Scale. Prevalence data for psychiatric conditions and scores from psychiatric and quality-of-life questionnaires were extracted. Additionally, all bladder exstrophy and epispadias patients born in Finland 2001-2006 were identified from national registries. A matched and randomized control group without congenital malformations was selected from the same population. We evaluated the prevalence and risk factors for psychiatric diagnoses in this cohort. Of the 3850 retrieved results, 30 studies with 1179 participants were included. The overall prevalence of psychiatric morbidity was 31 %, [95 % CI 17 %-47 %]. Psychiatric morbidity was highest in adolescents, while morbidity in adults was comparable to the general population. In the Finnish cohort, 80 % (n = 16/20) of bladder exstrophy and epispadias patients had a psychiatric diagnosis compared to 26 % (n = 21/80) of the controls (OR 11.2, [95 % CI 3.37-37.4], p < 0.001). The severity of the anomaly, number of surgeries, maternal unemployment, or maternal psychiatric diagnosis were not significantly associated with increased psychiatric morbidity. Bladder exstrophy and epispadias is associated with an elevated risk of psychiatric morbidity. Our dual approach highlights the need for systematic mental health assessment and support in this population.

#3

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

Journal of pediatric and adolescent gynecology2026 Feb 06

Omphalocele, cloacal exstrophy, imperforate anus, and spinal anomaly (OEIS) complex is a severe congenital defect that is associated with müllerian anomalies and duplicated external genitalia. The creation of a neovagina for these patients is dependent on the extent of congenital malformations, available native tissue, age at reconstruction, and presence of functional müllerian structures. We present a patient diagnosed with OEIS with bilateral hemivaginas inserted into the bladder plate. We describe the use of urinary bladder tissue to separate the reproductive and urinary tracts, maintaining known patent müllerian systems. This case highlights a unique anomaly in which the bladder and hemivaginas are intimately connected, as well as the use of conveniently available urinary bladder tissue for the creation of a neovagina.

#4

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

Journal of pediatric urology2026 Apr

Cloacal Exstrophy (CE), also known as OEIS complex (Omphalocele, Exstrophy of the cloaca, Imperforate anus, and Spinal defects), is the rarest and most severe congenital malformation of the bladder exstrophy-epispadias spectrum, characterized by an open bladder and exposed portions of the large intestine, along with bony anomalies. The objective of this study is to describe the experience of a high-volume exstrophy center's perioperative pathway, with a focus on analgesic use as well as urologic, orthopedic, and dietary interventions, for bladder repair of cloacal exstrophy. An IRB-approved, prospectively-maintained institutional approved Bladder Exstrophy-Epispadias Complex database was reviewed for patients with CE who had undergone bladder closure between 2017 and 2024. Electronic medical records were retrospectively reviewed to examine patient demographics, use of pelvic osteotomy, immobilization status, pediatric intensive care unit (PICU) admission, perioperative analgesia and sedation, nutritional support, drainage tubes, blood transfusion, antibiotic coverage, hospital length of stay, postoperative complications and closure failure. One hundred seventy-six CE and CE-variant patients were identified and 23 underwent bladder closure during this period. The median age at pelvic osteotomy was 1.93 years (IQR, 1.48-2.43, range 1-7). A delay of 14 days (IQR, 10-16) between osteotomy and closure was used in all but two patients. External fixation device and Buck's traction remained for 42 (IQR, 42-47) days. Post-closure, PICU stay was 8 days (IQR, 7-13) with 78 % requiring invasive ventilation for 4.5 days (IQR, 2-13.8). All patients required blood transfusions (2, IQR, 1-3). Enteral feeding resumed by day 11.5 (IQR, 5.8-16.5) for all but one and parenteral nutrition for 21 days (IQR, 13.5-53). Patient-controlled analgesia (PCA) was used in all patients for both pre- and post-closure, morphine most commonly (76 % and 48 %, respectively). Opioid use totaled 45 days (IQR, 40-60). Acetaminophen use was universal and NSAIDs used in 43 % (pre) and 57 % (post), clonidine in 62 % (pre) and 96 % (post). Bladder closure was successful in 87 %, while 13 % required repeat operation. Length of stay averaged 62 days (IQR, 51-86), range 42-191. While our study was limited by a small patient population, this data highlights the complexity and resource-intensive nature of CE bladder closure, emphasizing the need for comprehensive multidisciplinary management at specialized centers. Our 87 % success rate in bladder closure for patients with CE underscores the effectiveness of the multidisciplinary approach described when managing the complex perioperative course of these patients. However, challenges remain including prolonged hospitalization, ventilation requirements and slow reintroduction of enteral nutrition while highlighting the optimization of perioperative strategies of pain, sedation and recovery.

#5

Glomerular Filtration Rate (GFR) measures in young children with cloacal malformations indicate early baseline renal dysfunction which is independently associated with congenital upper urinary tract anomalies.

Journal of pediatric urology2026 Feb

Children with cloacal malformations have high rates of congenital anomalies of the genitourinary tract, voiding dysfunction and subsequent renal dysfunction. Rigorous study of early renal function in this population has not been previously published. We aimed to characterize the baseline renal function of this cohort in early childhood and identify demographic, clinical and anatomical factors associated with lower baseline renal function. A prospectively maintained institutional database of patients with cloaca enrolled between 2020 and 2025 was used to track those undergoing primary repair or revision. Patients were excluded if they had missing post-operative renal function measurements or a primary diagnosis of cloacal exstrophy. The primary outcome was estimated glomerular filtration rate (eGFR). 52 patients met inclusion criteria. The median age at initial evaluation was 0.8 years (range 0.1-10.1) while the median age at last follow up was 1.6 years (range 0.3-10.3). Anatomic characteristics included 21 (40 %) with a complex cloaca (common channel [CC] length ≥3 cm), 26 (50 %) born with hydrocolpos, 48 (92 %) with an upper urinary tract anomaly (UTA) and 23 (44 %) with a severe UTA (defined as high grade hydroureteronephrosis [SFU grade 4], vesicoureteral reflux [grade IV-V] and/or solitary kidney with an ipsilateral anomaly). The median eGFR at the most recent evaluation was 82 ml/min/1.73 m2 (IQR 64-101). 30 patients (58 %) had at least chronic kidney disease (CKD) stage 2, but only 4 (8 %) had CKD stage 3b or greater. In unadjusted analyses, public insurance, increasing CC length, decreasing urethral length, urethral atresia, and upper UTAs were associated with decreased eGFR. Only public insurance status and severe UTAs were independently associated with decreased eGFR. While many elements of cloacal anatomy were associated with eGFR, on adjusted analysis, only severe upper UTAs and insurance status remained associated. These data capture a relatively young cohort and suggest that early renal dysfunction is driven by congenital renal anomalies. Patients may develop voiding dysfunction and/or urinary tract infections that potentiate renal disease in this context. However, patients may also have intrinsic renal disease that is unmasked with somatic growth in late childhood and adolescence. Both scenarios must be anticipated and managed. This study affirms a high rate of early renal dysfunction in this population and identifies renal anomalies as an important anatomic factor. These results emphasize the need for careful bladder management and renal surveillance protocols to reduce progression of renal disease.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC257 artigos no totalmostrando 194

2026

A Successful Single-Stage Reconstruction of an Isolated Female Epispadias in a 14-Year-Old Patient: A Case Report and Literature Review.

International medical case reports journal
2026

Psychiatric morbidity in bladder exstrophy-epispadias complex: A systematic review with a population-based case-control study.

Journal of pediatric urology
2026

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

Journal of pediatric and adolescent gynecology
2025

Anatomical and Functional Outcomes of Bladder Exstrophy Patients - A Single-Centre Indonesian Experience.

Malaysian orthopaedic journal
2026

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

Journal of pediatric urology
2026

Glomerular Filtration Rate (GFR) measures in young children with cloacal malformations indicate early baseline renal dysfunction which is independently associated with congenital upper urinary tract anomalies.

Journal of pediatric urology
2025

Outcomes and management of mullerian anomalies in female patients with complex congenital birth defects of cloacal exstrophy and anorectal malformation.

Journal of pediatric urology
2026

Beyond cloacal malformation. Addressing unclassifiable complexity.

Journal of pediatric surgery
2025

One-hundred-fifteen consecutive bladder exstrophies successfully closed in a single nationally commissioned centre.

Journal of pediatric urology
2025

Cloacal exstrophy management in a  low- and middle-income country (LMIC): comparative outcomes of direct versus staged closure and a multidisciplinary risk-stratified protocol.

Pediatric surgery international
2026

Early findings on OnabotulinumtoxinA for postoperative pain control in bladder exstrophy.

Journal of pediatric urology
2025

Association Between Social Determinants of Health and Choice of Urinary Reconstruction in Children.

Urology
2025

Genetic analysis of two bladder exstrophy populations of South Asian and North American origin.

Journal of pediatric urology
2025

From crisis to care: exploring the resilience of pediatric urologists in tackling complex urological challenges in a resource-limited country during volunteer campaigns: a qualitative study.

Frontiers in public health
2025

Bulking agent treatment of incontinent catheterizable channels in pediatric patients and young adults.

Journal of pediatric urology
2025

Cloacal Exstrophy Associated with a Hindgut Duplication Anomaly: A Case Report of Challenges in Hindgut Preservation.

European journal of pediatric surgery reports
2025

Will my Child Walk Funny? The Rotational Profile of Infants and Children With Classic Bladder Exstrophy.

Journal of pediatric orthopedics
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

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

African urology
2025

Subperiosteal Tunneled Allograft Reconstruction of the Symphyseal Ligaments (STARS) in Bladder Exstrophy Epispadias Complex.

Journal of pediatric orthopedics
2025

Cloacal Exstrophy Closure Without Osteotomy and Immobilization: A Recipe for Failure.

Journal of pediatric surgery
2024

A Modification of the Newborn Operation for Cloacal Exstrophy: Leaving the Cecal Plate Untouched.

European journal of pediatric surgery reports
2024

Mental health, psychosocial functioning, and health-related quality of life of children and adolescents with bladder exstrophy, cloacal exstrophy, and epispadias: A scoping review.

Journal of pediatric urology
2024

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

International journal of surgery case reports
2025

Ventral body wall closure: Mechanistic insights from mouse models and translation to human pathology.

Developmental dynamics : an official publication of the American Association of Anatomists
2025

Congenital Risk Factors for Chronic Kidney Disease in Patients With Persistent Cloaca: Results From a Nationwide Survey in Japan.

Journal of pediatric surgery
2024

The postoperative renal function of persistent cloaca patients treated by posterior sagittal anorecto-urethro-vaginopalsty: results of a nationwide survey in Japan.

Pediatric surgery international
2024

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

Journal of Indian Association of Pediatric Surgeons
2024

Bladder exstrophy-epispadias complex: The effect of urotherapy on incontinence.

Journal of pediatric urology
2024

Updates on the Care of Cloacal Exstrophy.

Children (Basel, Switzerland)
2024

BEEC psychosocial screening at Royal Manchester Children's Hospital.

Journal of pediatric urology
2024

OIES complex diagnosed by in utero ultrasound a case report.

International journal of surgery case reports
2024

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

Journal of surgical case reports
2024

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

American journal of medical genetics. Part A
2024

Clear as Mud: Readability Scores in Cloacal Exstrophy Literature and Its Treatment.

Research and reports in urology
2024

A case report of single umbilical artery combined with fetal bladder exstrophy in singleton pregnancy and related literature review.

BMC pregnancy and childbirth
2024

Interposing Rectus and Gracilis Muscle Flaps for Pelvic Reconstruction in Bladder Exstrophy after Bladder Neck Closure.

Plastic and reconstructive surgery
2024

The true pelvic volume change with various corrective osteotomy techniques for exstrophy-epispadias complex spectrum: the value of computer-assisted virtual surgery.

Journal of pediatric orthopedics. Part B
2024

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

American journal of medical genetics. Part A
2024

Outcomes From Colonic Pull-Through for Cloacal Exstrophy Differ by Colon Length: A Multi-Institutional Study.

Journal of pediatric surgery
2023

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

Urology case reports
2024

Long-Term Management of Problems in Cloacal Exstrophy: A Single-Institution Review.

Journal of pediatric surgery
2023

Multi-staged vs Single-staged Pelvic Osteotomy in the Modern Treatment of Cloacal Exstrophy: Bridging the Gap.

Journal of pediatric surgery
2023

Urological outcome with the use of salvage continent vesicostomy in pediatric reconstructive surgery. A single tertiary center experience.

Journal of pediatric urology
2024

Prenatal Presentation of a Covered Cloacal Exstrophy Variant; Early Diagnostic Challenges Within the Broad Spectrum of the Exstrophy-Epispadias Complex.

Urology
2023

Analyzing the factors that contribute to the development of embryological classical type of bladder exstrophy.

Anatomy &amp; cell biology
2023

Pelvic Ectopic Kidney Prevalence and Pressure Changes During Cloacal Exstrophy (Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects Syndrome) Closure.

Urology
2023

Posterior sagittal anorecto-urethro-vagino-plasty in the late period was associated with the long-term bowel function in patients with persistent cloaca: results of a nationwide survey in Japan.

Pediatric surgery international
2023

Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.

Biomolecules
2023

The clinical features of patients who underwent bladder augmentation of cloacal exstrophy and their functional outcomes: the results of a nationwide survey in Japan.

Pediatric surgery international
2023

Case report: Duplicated appendicitis with history of cloacal exstrophy causing bowel obstruction.

International journal of surgery case reports
2024

Ensuring our exstrophy-epispadias complex patients and families thrive.

Pediatric nephrology (Berlin, Germany)
2023

Exstrophy-Epispadias Complex.

The Urologic clinics of North America
2023

Urethral Plate Grafting for Deficient Urethral Plate in Exstrophy: An Alternative Method to Augment Urethral Plate.

Journal of pediatric surgery
2023

Mucosal Violations and Their Effect on Successful Bladder Neck Closure in Cloacal Exstrophy.

Journal of pediatric surgery
2023

Omphalocele, Exstrophy of Cloaca, Imperforate Anus, and Spinal Defects Complex: A Case Report.

JNMA; journal of the Nepal Medical Association
2023

A Single-Institutional Experience With Prenatal Diagnosis of Cloacal Exstrophy: Room for Improvement.

Journal of pediatric surgery
2023

Prevalence of opioid and benzodiazepine use in adult patients with the exstrophy-epispadias complex.

Journal of pediatric urology
2023

Spinal dysraphism in exstrophy: a single-center study of a 39-year prospective database.

Journal of neurosurgery. Pediatrics
2023

Bladder exstrophy-epispadias complex related litigation: A legal database review.

The Medico-legal journal
2023

"We the BE": An educational mobile health application for children and families affected by bladder exstrophy-epispadias-cloacal exstrophy complex.

Journal of pediatric urology
2023

Role of ultrasound scan in prenatal diagnosis of cloacal exstrophy.

Clinical case reports
2023

Dienogest Use for Recurrent Pyosalpinx as a Long-Term Complication of Cloacal Exstrophy: A Case Report.

Journal of pediatric and adolescent gynecology
2023

Clinical features of patients who underwent anoplasty for cloacal exstrophy and their functional outcomes: the results of a nationwide survey in Japan.

Pediatric surgery international
2023

Fetal Tethered Spinal Cord: Diagnostic Features and Its Association with Congenital Anomalies.

Fetal and pediatric pathology
2023

Analysis of the potential risk factors for defecation problems and their bowel management based on the long-term bowel function in patients with persistent cloaca: results of a nationwide survey in Japan.

Pediatric surgery international
2023

Unique Evaluation and Management Considerations for Adolescents with Late Gynecologic and Colorectal Issues in the Setting of Anorectal Malformations.

Journal of pediatric and adolescent gynecology
2023

The exstrophy experience: A national survey assessing urinary continence, bladder management, and oncologic outcomes in adults.

Journal of pediatric urology
2022

The Y-Pelvic Osteotomy in Treating Bladder Exstrophy: A Surgical Technique.

Cureus
2023

OEIS complex-using MRI in diagnostic: Two case reports.

Radiology case reports
2023

Application of Tunica Vaginalis Flap for Epispadias Repair in the Epispadias-Exstrophy Complex.

Urology
2023

Urinary and bowel management in cloacal exstrophy: A long-term multi-institutional cross-sectional study.

Journal of pediatric urology
2023

Reproductive and Family Building Considerations for Female Patients with Anorectal And Urogenital Malformations.

Journal of pediatric surgery
2022

Orthopedic complications after osteotomy in patients with classic bladder exstrophy and cloacal exstrophy: a comparative study.

Journal of pediatric urology
2022

Prenatal diagnosis of rare cloacal exstrophy: A case report.

Annals of medicine and surgery (2012)
2022

A case of congenital cloacal exstrophy/omphalocele-exstrophy-imperforate anus-spinal defects syndrome and a successful pregnancy.

Clinical and experimental reproductive medicine
2022

Clinical features of Mayer-Rokitansky-Küster-Haüser syndrome diagnosed at under 16 years old: results from a questionnaire survey conducted on all institutions of pediatric surgery and pediatric urology in Japan.

Pediatric surgery international
2022

An Interdisciplinary Approach to Müllerian Outflow Tract Obstruction Associated with Cloacal Malformation and Cloacal Exstrophy.

Journal of clinical medicine
2023

Pelvic osteotomy in cloacal exstrophy: A changing perspective.

Journal of pediatric surgery
2022

Three-Dimensional-Printed Vaginal Molds for Use After McIndoe Neovagina Creation.

Obstetrics and gynecology
2023

Pre-pregnancy exposure to arsenic in diet and non-cardiac birth defects.

Public health nutrition
2022

NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.

American journal of medical genetics. Part A
2022

Hindgut Duplication in an Infant with Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects (OEIS) Complex.

European journal of pediatric surgery reports
2022

Sexual health outcomes after penile reconstruction in the exstrophy-epispadias complex.

Journal of pediatric urology
2022

Urinary and Fecal Continence in Adolescent and Adult Patients With Cloacal Exstrophy.

Urology
2022

Risk factor analysis of irreversible renal dysfunction based on fetal ultrasonographic findings in patients with persistent cloaca: Results from a nationwide survey in Japan.

Journal of pediatric surgery
2022

Long-term active problems in patients with cloacal exstrophy: A systematic review.

Journal of pediatric surgery
2022

Commentary on long-term active problems in patients with cloacal exstrophy: A systematic review.

Journal of pediatric surgery
2021

The Genomic Architecture of Bladder Exstrophy Epispadias Complex.

Genes
2021

Surgical Therapy After Failed Feminizing Genitoplasty in Young Adults With Disorders of Sex Development: Retrospective Analysis and Review of the Literature.

The journal of sexual medicine
2022

Robotic-Assisted Laparoscopic Approach to Removal of Müllerian Remnants.

Journal of pediatric and adolescent gynecology
2021

Patterns of spinal cord malformation in cloacal exstrophy.

Journal of neurosurgery. Pediatrics
2021

A Novel Surgical Approach for the Management of Cloacal Exstrophy with a Giant Omphalocele.

European journal of pediatric surgery reports
2021

Exstrophy-Epispadias Complex Variants: A Hybrid Case.

Pediatric reports
2021

Neo-phalloplasty in children and adolescents for acquired penile loss.

Journal of pediatric urology
2021

A review of adopted colorectal patients: a parent's perspective.

Pediatric surgery international
2021

Turbulent Cerebrospinal Fluid Flow in Enlarging Terminal Myelocystocele.

World neurosurgery
2021

Urothelial Differences in the Exstrophy-Epispadias Complex: Potential Implications for Management.

The Journal of urology
2021

Safety of delayed surgical repair of omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex in infants with significant comorbidities.

Pediatric surgery international
2021

Substitution Phalloplasty in Patients With Bladder Exstrophy-Epispadias Complex: A Systematic Review of Techniques, Complications and Outcomes.

The journal of sexual medicine
2020

[High risk pregnancy in patients with extrophy-epispadia complex: Uro-gynecological characteristics and management.].

Archivos espanoles de urologia
2021

Pedicled Anterolateral Thigh and Radial Forearm Free Flap Phalloplasty for Penile Reconstruction in Patients With Bladder Exstrophy.

The Journal of urology
2020

Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis.

American journal of medical genetics. Part A
2020

SLC20A1 Is Involved in Urinary Tract and Urorectal Development.

Frontiers in cell and developmental biology
2021

Baseline Renal Volumes in Children Born With Cloacal Anomalies.

Urology
2020

Key anatomic findings on fetal ultrasound and MRI in the prenatal diagnosis of bladder and cloacal exstrophy.

Journal of pediatric urology
2020

Clues and pitfalls in prenatal diagnosis of classic cloacal exstrophy using ultrasonography and magnetic resonance imaging: A case with sequential observation from 17 to 30 weeks' gestation and literature review.

The journal of obstetrics and gynaecology research
2020

Multidisciplinary management of adult cloacal exstrophy complications: A challenging case of nephrolithiasis and abdominal wall extrusion of a catheterizable ileal pouch.

Urology case reports
2020

Outcomes in the giant omphalocele population: A single center comprehensive experience.

Journal of pediatric surgery
2020

Urinary Continence Outcomes in Classic Bladder Exstrophy: A Long-Term Perspective.

The Journal of urology
2019

Re: Genital Mobilization of Intravesical Phallus Associated with Covered Cloacal Exstrophy: A Case Report.

The Journal of urology
2019

Exploration of Practice Patterns in Exstrophy Closures: A Comparison Between Surgical Specialties Using a National and Institutional Database.

Urology
2019

Isolated bladder exstrophy in prenatal diagnosis.

Archives of gynecology and obstetrics
2019

Covered cloacal exstrophy with pulmonary hypoplasia due to urethral obstruction.

Pediatrics international : official journal of the Japan Pediatric Society
2019

Bilateral Anterior Innominate Osteotomy for Bladder Exstrophy.

JBJS essential surgical techniques
2019

Complex abdominal wall reconstruction combined with bladder closure in OEIS complex.

Journal of pediatric surgery
2019

Re: The Intravesical Phallus in Patients with Cloacal Exstrophy: An Embryologic Conundrum.

The Journal of urology
2019

OEIS complex: Prevalence, clinical, and epidemiologic findings in a multicenter Mexican birth defects surveillance program.

Birth defects research
2019

Treatment guidelines for persistent cloaca, cloacal exstrophy, and Mayer-Rokitansky-Küster-Häuser syndrome for the appropriate transitional care of patients.

Surgery today
2019

The dual-staged pathway for closure in cloacal exstrophy: Successful evolution in collaborative surgical practice.

Journal of pediatric surgery
2019

Lifelong Congenital Urology: The Challenges for Patients and Surgeons.

European urology
2019

The failed bladder closure in cloacal exstrophy: Management and outcomes.

Journal of pediatric surgery
2019

3-Dimensional Magnetic Resonance Imaging Guided Pelvic Floor Dissection for Bladder Exstrophy: A Single Arm Trial.

The Journal of urology
2019

Functional, histological and molecular characteristics of human exstrophy detrusor.

Journal of pediatric urology
2019

Management of cavernous abdominal wall defects post radical cystectomy in adult exstrophy complex.

BMJ case reports
2020

Spine duplication or split notochord syndrome - case report and literature review.

The journal of spinal cord medicine
2019

Ectopias of the kidney, urinary tract organs, and male genitalia.

Der Pathologe
2019

Transition of care: a growing concern in adult patients born with colorectal anomalies.

Pediatric surgery international
2018

Fetal MRI in the Identification of a Fetal Ventral Wall Defect Spectrum.

AJP reports
2019

Obstetrical Outcomes in Adult Patients Born with Complex Anorectal Malformations and Cloacal Anomalies: A Literature Review.

Journal of pediatric and adolescent gynecology
2019

The rare case of an extraperitoneal ureteral herniation into the inguinal canal of a 12-year-old boy.

Annals of the Royal College of Surgeons of England
2018

A bizarre case of accessory larynx in an infant with OEIS syndrome.

International journal of pediatric otorhinolaryngology
2018

Commentary to 'The intravesical phallus in patients with cloacal exstrophy: an embryologic conundrum'.

Journal of pediatric urology
2018

[Ectopias of the kidney, urinary tract organs, and male genitalia. German version.].

Der Pathologe
2019

Predictors of a successful primary bladder closure in cloacal exstrophy: A multivariable analysis.

Journal of pediatric surgery
2018

The intravesical phallus in patients with cloacal exstrophy: An embryologic conundrum.

Journal of pediatric urology
2018

Combined Bladder Neck Reconstruction and Continent Stoma Creation as a Suitable Alternative for Continence in Bladder Exstrophy: A Preliminary Report.

Urology
2018

Re: Abdominal Compartment Syndrome in a Pediatric Patient with Cloacal Exstrophy.

The Journal of urology
2018

Paediatric cystolitholapaxy through the Mitrofanoff/Monti channel.

Journal of pediatric urology
2019

A descriptive model for a multidisciplinary unit for colorectal and pelvic malformations.

Journal of pediatric surgery
2018

The Role of Human Acellular Dermis in Preventing Fistulas After Bladder Neck Transection in the Exstrophy-epispadias Complex.

Urology
2018

Who, where, and why are patients lost to follow-up? A 20-year study of bladder exstrophy patients at a single institution.

Journal of pediatric urology
2018

Achieving urinary continence in cloacal exstrophy: The surgical cost.

Journal of pediatric surgery
2018

Genital Mobilization of Intravesical Phallus Associated With Covered Cloacal Exstrophy: A Case Report.

Urology
2018

Omphalocele, exstrophy of cloaca, imperforate anus, and spinal defect complex, multiple major reconstructive surgeries needed.

Urology annals
2018

Pelvic and lower extremity immobilization for cloacal exstrophy bladder and abdominal closure in neonates and older children.

Journal of pediatric surgery
2017

Clinical and risk factor analysis of cloacal defects in the National Birth Defects Prevention Study.

American journal of medical genetics. Part A
2018

Cystectomy in the Pediatric Exstrophy Population: Indications and Outcomes.

Urology
2017

Image of the Month: Clinical Features in a Newborn with Covered Cloacal Exstrophy.

European journal of pediatric surgery reports
2018

Gradual bone transfer for the correction of the pubic diastasis using the Ilizarov technique in closure of bladder and cloacal exstrophy.

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association
2017

[Prenatal diagnosis of abdominal wall defects].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2017

Misdiagnosis of a cloacal exstrophy variant as urorectal septum malformation in a fetus by ultrasound: A case report.

Experimental and therapeutic medicine
2017

Psychosexual development management of bladder exstrophy epispadias in complex patients.

Journal of pediatric urology
2017

High prevalence of same-sex twins in patients with cloacal exstrophy: Support for embryological association with monozygotic twinning.

Journal of pediatric surgery
2017

The current profile of persistent cloaca and cloacal exstrophy in Japan: the results of a nationwide survey in 2014 and a review of the literature.

Pediatric surgery international
2017

Omphalocele, Exstrophy of Bladder, Imperforate Anus and Spinal Defect Complex with Genital Anomalies in a Late Preterm Infant.

Saudi journal of medicine &amp; medical sciences
2017

Complications of bladder closure in cloacal exstrophy: Do osteotomy and reoperative closure factor in?

Journal of pediatric surgery
2017

Long-term follow-up of composite bladder augmentation incorporating stomach in a multi-institutional cohort of patients with cloacal exstrophy.

Journal of pediatric urology
2016

Bacteremia induced by Bifidobacterium breve in a newborn with cloacal exstrophy.

Pediatrics international : official journal of the Japan Pediatric Society
2016

Wire in the hole: a case series of eroded intrapubic wire sutures causing genitourinary complications in the bladder exstrophy complex.

The Canadian journal of urology
2016

Congenital renal anomalies in cloacal exstrophy: Is there a difference?

Journal of pediatric urology
2016

Twinning and major birth defects, National Birth Defects Prevention Study, 1997-2007.

Journal of epidemiology and community health
2016

Cloacal Exstrophy Repair with Primary Closure of Bladder Exstrophy: A Case Report and Review of Literature.

Case reports in pediatrics
2016

The association of the severity of anorectal malformations and intestinal malrotation.

Journal of pediatric surgery
2016

Re: Safety and Efficacy of Staged Pelvic Osteotomies in the Modern Treatment of Cloacal Exstrophy.

The Journal of urology
2016

Surgery in disorders of sex development (DSD) with a gender issue: If (why), when, and how?

Journal of pediatric urology
2016

Cloacal Exstrophy with Mature Teratoma: A Rare Association in a Neonate.

Journal of neonatal surgery
2016

Growth morbidity in patients with cloacal exstrophy: a 42-year experience.

Journal of pediatric surgery
2016

Use of muscle pedicle flaps for failed bladder neck closure in the exstrophy spectrum.

Journal of pediatric urology
2016

Abdominal Compartment Syndrome in a Pediatric Patient With Cloacal Exstrophy.

Urology
2016

Bladder exstrophy-epispadias complex and the role of methylenetetrahydrofolate reductase C677T polymorphism: A case control study.

Journal of Indian Association of Pediatric Surgeons
2016

Complexities of Müllerian Anatomy in 46XX Cloacal Exstrophy Patients.

Journal of pediatric and adolescent gynecology
2016

Continence in the cloacal exstrophy patient: What does it cost?

Journal of pediatric surgery
2015

[SQUAMOUS CELL CARCINOMA WITH CLOACAL EXSTROPHY: A CASE REPORT].

Nihon Hinyokika Gakkai zasshi. The japanese journal of urology
2015

A newborn with trisomy 13 presenting with cloacal exstrophy.

The Turkish journal of pediatrics
2015

When Closure Fails: What the Radiologist Needs to Know About the Embryology, Anatomy, and Prenatal Imaging of Ventral Body Wall Defects.

Seminars in ultrasound, CT, and MR
2015

Re: The "Rescue Operation" for Patients with Cloacal Exstrophy and its Variants.

The Journal of urology
2016

Bladder stones after bladder augmentation are not what they seem.

Journal of pediatric urology
2016

Ultrasound-Guided Transgluteal Percutaneous Nephrolithotomy for a Patient with Complex Urogenital Reconstruction and Ectopic Kidney.

Journal of endourology
2015

Cloacal Exstrophy: A History of Gender Reassignment.

Urology
2016

Abdominal wall dysfunction in adult bladder exstrophy: a treatable but under-recognized problem.

Hernia : the journal of hernias and abdominal wall surgery
2015

Prospective study on the incidence of bladder/cloacal exstrophy and epispadias in Europe.

Journal of pediatric urology
2015

Bilateral Circum-scrotal Z-plasties for Creation of Single Scrotal Sac in Cloacal Exstrophy With Widely Divergent Scrotal Sacs.

Urology
2015

Re: Clinical Outcome of Cloacal Exstrophy, Current Status, and a Change in Surgical Management.

European urology
2015

Current opinions regarding care of the mature pediatric urology patient.

Journal of pediatric urology
2015

Registry analysis supports different mechanisms for gastroschisis and omphalocele within shared developmental fields.

American journal of medical genetics. Part A
2015

Successful pregnancy in patients with exstrophy-epispadias complex: A University of Washington experience.

Journal of pediatric urology
2016

Incidence of Hip Dysplasia Associated With Bladder Exstrophy.

Journal of pediatric orthopedics
2015

Squamous cell carcinoma arising from abdominal wall defect lesion complicated with cloacal exstrophy.

Plastic and reconstructive surgery. Global open
2015

46XX cloacal exstrophy patients.

Journal of pediatric surgery
2015

Psychosocial screening at paediatric BEEC clinics: a pilot evaluation study.

Journal of pediatric urology
2015

Complex abdominal wall defects: appearances at prenatal imaging.

Radiographics : a review publication of the Radiological Society of North America, Inc
2015

Sex ratios among infants with birth defects, National Birth Defects Prevention Study, 1997-2009.

American journal of medical genetics. Part A
2015

Long-term renal functional outcomes after primary gastrocystoplasty.

The Journal of urology
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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 Successful Single-Stage Reconstruction of an Isolated Female Epispadias in a 14-Year-Old Patient: A Case Report and Literature Review.
    International medical case reports journal· 2026· PMID 41836466mais citado
  2. Psychiatric morbidity in bladder exstrophy-epispadias complex: A systematic review with a population-based case-control study.
    Journal of pediatric urology· 2026· PMID 41719822mais citado
  3. Vaginal Reconstruction Using Urinary Bladder Tissue in a Patient with OEIS Complex: A Case Report.
    Journal of pediatric and adolescent gynecology· 2026· PMID 41655619mais citado
  4. Multidisciplinary perioperative management of cloacal exstrophy bladder closure: A single institution's approach.
    Journal of pediatric urology· 2026· PMID 41521080mais citado
  5. Glomerular Filtration Rate (GFR) measures in young children with cloacal malformations indicate early baseline renal dysfunction which is independently associated with congenital upper urinary tract anomalies.
    Journal of pediatric urology· 2026· PMID 41512688mais citado
  6. Focused Clinical Observation of Functional Outcomes in Children With OEIS Complex.
    Congenit Anom (Kyoto)· 2026· PMID 41891914recente
  7. Anatomical and Functional Outcomes of Bladder Exstrophy Patients - A Single-Centre Indonesian Experience.
    Malays Orthop J· 2025· PMID 41537028recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:93929(Orphanet)
  2. MONDO:0009774(MONDO)
  3. GARD:4080(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q5134736(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

Extrofia da cloaca
Compêndio · Raras BR

Extrofia da cloaca

ORPHA:93929 · MONDO:0009774
Prevalência
1-9 / 1 000 000
Herança
Multigenic/multifactorial
CID-10
Q64.1 · Extrofia vesical
CID-11
Início
Infancy, Neonatal
Prevalência
0.0 (Europe)
MedGen
UMLS
C1850321
EuropePMC
Wikidata
Papers 10a
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