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.
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.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 14 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 24 características clínicas mais associadas, ordenadas por frequência.
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Genética e causas
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Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Extrofia da cloaca
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Publicações mais relevantes
A Successful Single-Stage Reconstruction of an Isolated Female Epispadias in a 14-Year-Old Patient: A Case Report and Literature Review.
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.
Psychiatric morbidity in bladder exstrophy-epispadias complex: A systematic review with a population-based case-control study.
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.
Vaginal Reconstruction Using Urinary Bladder Tissue in a Patient with OEIS Complex: A Case Report.
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.
Multidisciplinary perioperative management of cloacal exstrophy bladder closure: A single institution's approach.
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.
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.
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
Focused Clinical Observation of Functional Outcomes in Children With OEIS Complex.
A Successful Single-Stage Reconstruction of an Isolated Female Epispadias in a 14-Year-Old Patient: A Case Report and Literature Review.
Psychiatric morbidity in bladder exstrophy-epispadias complex: A systematic review with a population-based case-control study.
Vaginal Reconstruction Using Urinary Bladder Tissue in a Patient with OEIS Complex: A Case Report.
Anatomical and Functional Outcomes of Bladder Exstrophy Patients - A Single-Centre Indonesian Experience.
📚 EuropePMC257 artigos no totalmostrando 194
A Successful Single-Stage Reconstruction of an Isolated Female Epispadias in a 14-Year-Old Patient: A Case Report and Literature Review.
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Journal of pediatric surgeryOrthopedic complications after osteotomy in patients with classic bladder exstrophy and cloacal exstrophy: a comparative study.
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Urology case reportsOutcomes in the giant omphalocele population: A single center comprehensive experience.
Journal of pediatric surgeryUrinary Continence Outcomes in Classic Bladder Exstrophy: A Long-Term Perspective.
The Journal of urologyRe: Genital Mobilization of Intravesical Phallus Associated with Covered Cloacal Exstrophy: A Case Report.
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UrologyIsolated bladder exstrophy in prenatal diagnosis.
Archives of gynecology and obstetricsCovered cloacal exstrophy with pulmonary hypoplasia due to urethral obstruction.
Pediatrics international : official journal of the Japan Pediatric SocietyBilateral Anterior Innominate Osteotomy for Bladder Exstrophy.
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Journal of pediatric surgeryRe: The Intravesical Phallus in Patients with Cloacal Exstrophy: An Embryologic Conundrum.
The Journal of urologyOEIS complex: Prevalence, clinical, and epidemiologic findings in a multicenter Mexican birth defects surveillance program.
Birth defects researchTreatment guidelines for persistent cloaca, cloacal exstrophy, and Mayer-Rokitansky-Küster-Häuser syndrome for the appropriate transitional care of patients.
Surgery todayThe dual-staged pathway for closure in cloacal exstrophy: Successful evolution in collaborative surgical practice.
Journal of pediatric surgeryLifelong Congenital Urology: The Challenges for Patients and Surgeons.
European urologyThe failed bladder closure in cloacal exstrophy: Management and outcomes.
Journal of pediatric surgery3-Dimensional Magnetic Resonance Imaging Guided Pelvic Floor Dissection for Bladder Exstrophy: A Single Arm Trial.
The Journal of urologyFunctional, histological and molecular characteristics of human exstrophy detrusor.
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Pediatric surgery internationalFetal MRI in the Identification of a Fetal Ventral Wall Defect Spectrum.
AJP reportsObstetrical Outcomes in Adult Patients Born with Complex Anorectal Malformations and Cloacal Anomalies: A Literature Review.
Journal of pediatric and adolescent gynecologyThe 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 EnglandA bizarre case of accessory larynx in an infant with OEIS syndrome.
International journal of pediatric otorhinolaryngologyCommentary to 'The intravesical phallus in patients with cloacal exstrophy: an embryologic conundrum'.
Journal of pediatric urology[Ectopias of the kidney, urinary tract organs, and male genitalia. German version.].
Der PathologePredictors of a successful primary bladder closure in cloacal exstrophy: A multivariable analysis.
Journal of pediatric surgeryThe intravesical phallus in patients with cloacal exstrophy: An embryologic conundrum.
Journal of pediatric urologyCombined Bladder Neck Reconstruction and Continent Stoma Creation as a Suitable Alternative for Continence in Bladder Exstrophy: A Preliminary Report.
UrologyRe: Abdominal Compartment Syndrome in a Pediatric Patient with Cloacal Exstrophy.
The Journal of urologyPaediatric cystolitholapaxy through the Mitrofanoff/Monti channel.
Journal of pediatric urologyA descriptive model for a multidisciplinary unit for colorectal and pelvic malformations.
Journal of pediatric surgeryThe Role of Human Acellular Dermis in Preventing Fistulas After Bladder Neck Transection in the Exstrophy-epispadias Complex.
UrologyWho, where, and why are patients lost to follow-up? A 20-year study of bladder exstrophy patients at a single institution.
Journal of pediatric urologyAchieving urinary continence in cloacal exstrophy: The surgical cost.
Journal of pediatric surgeryGenital Mobilization of Intravesical Phallus Associated With Covered Cloacal Exstrophy: A Case Report.
UrologyOmphalocele, exstrophy of cloaca, imperforate anus, and spinal defect complex, multiple major reconstructive surgeries needed.
Urology annalsPelvic and lower extremity immobilization for cloacal exstrophy bladder and abdominal closure in neonates and older children.
Journal of pediatric surgeryClinical and risk factor analysis of cloacal defects in the National Birth Defects Prevention Study.
American journal of medical genetics. Part ACystectomy in the Pediatric Exstrophy Population: Indications and Outcomes.
UrologyImage of the Month: Clinical Features in a Newborn with Covered Cloacal Exstrophy.
European journal of pediatric surgery reportsGradual 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[Prenatal diagnosis of abdominal wall defects].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieMisdiagnosis of a cloacal exstrophy variant as urorectal septum malformation in a fetus by ultrasound: A case report.
Experimental and therapeutic medicinePsychosexual development management of bladder exstrophy epispadias in complex patients.
Journal of pediatric urologyHigh prevalence of same-sex twins in patients with cloacal exstrophy: Support for embryological association with monozygotic twinning.
Journal of pediatric surgeryThe 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 internationalOmphalocele, Exstrophy of Bladder, Imperforate Anus and Spinal Defect Complex with Genital Anomalies in a Late Preterm Infant.
Saudi journal of medicine & medical sciencesComplications of bladder closure in cloacal exstrophy: Do osteotomy and reoperative closure factor in?
Journal of pediatric surgeryLong-term follow-up of composite bladder augmentation incorporating stomach in a multi-institutional cohort of patients with cloacal exstrophy.
Journal of pediatric urologyBacteremia induced by Bifidobacterium breve in a newborn with cloacal exstrophy.
Pediatrics international : official journal of the Japan Pediatric SocietyWire in the hole: a case series of eroded intrapubic wire sutures causing genitourinary complications in the bladder exstrophy complex.
The Canadian journal of urologyCongenital renal anomalies in cloacal exstrophy: Is there a difference?
Journal of pediatric urologyTwinning and major birth defects, National Birth Defects Prevention Study, 1997-2007.
Journal of epidemiology and community healthCloacal Exstrophy Repair with Primary Closure of Bladder Exstrophy: A Case Report and Review of Literature.
Case reports in pediatricsThe association of the severity of anorectal malformations and intestinal malrotation.
Journal of pediatric surgeryRe: Safety and Efficacy of Staged Pelvic Osteotomies in the Modern Treatment of Cloacal Exstrophy.
The Journal of urologySurgery in disorders of sex development (DSD) with a gender issue: If (why), when, and how?
Journal of pediatric urologyCloacal Exstrophy with Mature Teratoma: A Rare Association in a Neonate.
Journal of neonatal surgeryGrowth morbidity in patients with cloacal exstrophy: a 42-year experience.
Journal of pediatric surgeryUse of muscle pedicle flaps for failed bladder neck closure in the exstrophy spectrum.
Journal of pediatric urologyAbdominal Compartment Syndrome in a Pediatric Patient With Cloacal Exstrophy.
UrologyBladder exstrophy-epispadias complex and the role of methylenetetrahydrofolate reductase C677T polymorphism: A case control study.
Journal of Indian Association of Pediatric SurgeonsComplexities of Müllerian Anatomy in 46XX Cloacal Exstrophy Patients.
Journal of pediatric and adolescent gynecologyContinence in the cloacal exstrophy patient: What does it cost?
Journal of pediatric surgery[SQUAMOUS CELL CARCINOMA WITH CLOACAL EXSTROPHY: A CASE REPORT].
Nihon Hinyokika Gakkai zasshi. The japanese journal of urologyA newborn with trisomy 13 presenting with cloacal exstrophy.
The Turkish journal of pediatricsWhen 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 MRRe: The "Rescue Operation" for Patients with Cloacal Exstrophy and its Variants.
The Journal of urologyBladder stones after bladder augmentation are not what they seem.
Journal of pediatric urologyUltrasound-Guided Transgluteal Percutaneous Nephrolithotomy for a Patient with Complex Urogenital Reconstruction and Ectopic Kidney.
Journal of endourologyCloacal Exstrophy: A History of Gender Reassignment.
UrologyAbdominal wall dysfunction in adult bladder exstrophy: a treatable but under-recognized problem.
Hernia : the journal of hernias and abdominal wall surgeryProspective study on the incidence of bladder/cloacal exstrophy and epispadias in Europe.
Journal of pediatric urologyBilateral Circum-scrotal Z-plasties for Creation of Single Scrotal Sac in Cloacal Exstrophy With Widely Divergent Scrotal Sacs.
UrologyRe: Clinical Outcome of Cloacal Exstrophy, Current Status, and a Change in Surgical Management.
European urologyCurrent opinions regarding care of the mature pediatric urology patient.
Journal of pediatric urologyRegistry analysis supports different mechanisms for gastroschisis and omphalocele within shared developmental fields.
American journal of medical genetics. Part ASuccessful pregnancy in patients with exstrophy-epispadias complex: A University of Washington experience.
Journal of pediatric urologyIncidence of Hip Dysplasia Associated With Bladder Exstrophy.
Journal of pediatric orthopedicsSquamous cell carcinoma arising from abdominal wall defect lesion complicated with cloacal exstrophy.
Plastic and reconstructive surgery. Global open46XX cloacal exstrophy patients.
Journal of pediatric surgeryPsychosocial screening at paediatric BEEC clinics: a pilot evaluation study.
Journal of pediatric urologyComplex abdominal wall defects: appearances at prenatal imaging.
Radiographics : a review publication of the Radiological Society of North America, IncSex ratios among infants with birth defects, National Birth Defects Prevention Study, 1997-2009.
American journal of medical genetics. Part ALong-term renal functional outcomes after primary gastrocystoplasty.
The Journal of urologyAssociações
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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.
- A Successful Single-Stage Reconstruction of an Isolated Female Epispadias in a 14-Year-Old Patient: A Case Report and Literature Review.
- Psychiatric morbidity in bladder exstrophy-epispadias complex: A systematic review with a population-based case-control study.
- Vaginal Reconstruction Using Urinary Bladder Tissue in a Patient with OEIS Complex: A Case Report.
- Multidisciplinary perioperative management of cloacal exstrophy bladder closure: A single institution's approach.
- 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.
- Focused Clinical Observation of Functional Outcomes in Children With OEIS Complex.
- Anatomical and Functional Outcomes of Bladder Exstrophy Patients - A Single-Centre Indonesian Experience.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:93929(Orphanet)
- MONDO:0009774(MONDO)
- GARD:4080(GARD (NIH))
- Busca completa no PubMed(PubMed)
- 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
