Raras
Buscar doenças, sintomas, genes...
Síndrome "prune belly"
ORPHA:2970CID-10 · Q79.4CID-11 · LD2F.10OMIM 100100DOENÇA RARA

A Síndrome de Prune Belly é uma condição rara com a qual o bebê já nasce (congênita). Ela faz parte do grupo de obstruções (bloqueios) das vias urinárias inferiores do feto (conhecidas como LUTO). Essa síndrome causa um alargamento variável (dilatação) das vias urinárias inferiores. Ela vem acompanhada pela ausência (falta) parcial ou total dos músculos da parte lateral e inferior da parede da barriga. E, em meninos, os testículos não descem para a bolsa escrotal e não podem ser sentidos (não palpáveis) em ambos os lados.

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Introdução

O que você precisa saber de cara

📋

A Síndrome de Prune Belly é uma condição rara com a qual o bebê já nasce (congênita). Ela faz parte do grupo de obstruções (bloqueios) das vias urinárias inferiores do feto (conhecidas como LUTO). Essa síndrome causa um alargamento variável (dilatação) das vias urinárias inferiores. Ela vem acompanhada pela ausência (falta) parcial ou total dos músculos da parte lateral e inferior da parede da barriga. E, em meninos, os testículos não descem para a bolsa escrotal e não podem ser sentidos (não palpáveis) em ambos os lados.

Pesquisas ativas
1 ensaio
15 total registrados no ClinicalTrials.gov
Publicações científicas
746 artigos
Último publicado: 2026 Apr

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q79.4
🇧🇷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

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Sinais e sintomas

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

Partes do corpo afetadas

🦴
Ossos e articulações
7 sintomas
🫃
Digestivo
4 sintomas
🫘
Rins
4 sintomas
❤️
Coração
3 sintomas
🫁
Pulmão
2 sintomas
💪
Músculos
1 sintomas

+ 15 sintomas em outras categorias

Características mais comuns

100%prev.
Válvula uretral posterior congênita
Muito frequente (99-80%)
100%prev.
Xerostomia
Frequência: 6/6
100%prev.
Resposta pupilar lenta à luz
Frequência: 6/6
90%prev.
Aplasia da musculatura da parede abdominal
Muito frequente (99-80%)
90%prev.
Criptorquidia
Muito frequente (99-80%)
90%prev.
Hidroureter
Muito frequente (99-80%)
40sintomas
Muito frequente (11)
Frequente (9)
Ocasional (17)
Sem dados (3)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 40 características clínicas mais associadas, ordenadas por frequência.

Válvula uretral posterior congênitaCongenital posterior urethral valve
Muito frequente (99-80%)100%
Xerostomia
Frequência: 6/6100%
Resposta pupilar lenta à luzSlow pupillary light response
Frequência: 6/6100%
Aplasia da musculatura da parede abdominalAplasia of the abdominal wall musculature
Muito frequente (99-80%)90%
CriptorquidiaCryptorchidism
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico746PubMed
Últimos 10 anos172publicações
Pico202020 papers
Linha do tempo
2026Hoje · 2026🧪 2011Primeiro ensaio clínico📈 2020Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant, Not applicable, X-linked recessive.

CHRM3Muscarinic acetylcholine receptor M3Disease-causing germline mutation(s) (loss of function) inAltamente restrito
FUNÇÃO

The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover

LOCALIZAÇÃO

Cell membranePostsynaptic cell membraneBasolateral cell membraneEndoplasmic reticulum membrane

VIAS BIOLÓGICAS (3)
G alpha (q) signalling eventsMuscarinic acetylcholine receptorsAcetylcholine regulates insulin secretion
MECANISMO DE DOENÇA

Prune belly syndrome

A syndrome characterized by thin abdominal musculature with overlying lax skin, cryptorchism, megacystis with disorganized detrusor muscle, and urinary tract abnormalities.

OUTRAS DOENÇAS (1)
prune belly syndrome
HGNC:1952UniProt:P20309

Variantes genéticas (ClinVar)

66 variantes patogênicas registradas no ClinVar.

🧬 CHRM3: GRCh38/hg38 1q43-44(chr1:237818970-248924793)x1 ()
🧬 CHRM3: GRCh37/hg19 1q21.1-44(chr1:143932350-249224684)x3 ()
🧬 CHRM3: GRCh37/hg19 1q43-44(chr1:237958865-246428627)x1 ()
🧬 CHRM3: GRCh37/hg19 1q42.13-43(chr1:228803269-243112182)x3 ()
🧬 CHRM3: NM_001375978.1(CHRM3):c.480_499del (p.Val161fs) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 64 variantes classificadas pelo ClinVar.

58
6
VUS (90.6%)
Benigna (9.4%)
VARIANTES MAIS SIGNIFICATIVAS
CHRM3: NM_001375978.1(CHRM3):c.1751G>A (p.Arg584His) [Uncertain significance]
CHRM3: NM_001375978.1(CHRM3):c.1687T>C (p.Cys563Arg) [Uncertain significance]
CHRM3: NM_001375978.1(CHRM3):c.1686G>T (p.Gln562His) [Uncertain significance]
CHRM3: NM_001375978.1(CHRM3):c.1624G>A (p.Val542Met) [Uncertain significance]
CHRM3: NM_001375978.1(CHRM3):c.1417A>T (p.Ser473Cys) [Uncertain significance]

Vias biológicas (Reactome)

3 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-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 — Síndrome "prune belly"

🗺️

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

15 ensaios clínicos encontrados, 1 ativos.

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

🥉Melhor nível de evidência: Relato de caso
Timeline de publicações
160 papers (10 anos)
#1

Management of an infant with prune belly syndrome under caudal anaesthesia undergoing laparoscopic surgery.

BMJ case reports2026 Feb 10

Prune belly syndrome (PBS) is a rare congenital disorder predominantly affecting male infants and is characterised by deficient abdominal musculature, urinary tract anomalies and bilateral cryptorchidism. Its multisystem involvement presents significant anaesthetic challenges. We report the anaesthetic management of a male infant with PBS posted for laparoscopic first-stage orchidopexy. Examination revealed a flabby, wrinkled abdomen with bulging flanks, easily palpable enlarged hydronephrotic kidneys, a hypoplastic scrotum and absent testes. After obtaining written informed consent and ensuring appropriate fasting, caudal anaesthesia was administered in the lateral position under ketamine sedation. Surgery was performed laparoscopically in the supine position. Adequate surgical conditions were achieved without airway instrumentation or neuromuscular blockade, and the perioperative course was uneventful. This case highlights that in carefully selected infants undergoing short, uncomplicated laparoscopic procedures, high-volume dilute caudal anaesthesia with sedation can be a safe and effective alternative to general anaesthesia in PBS.

#2

Functional Reconstruction of Abdominal Wall in Prune Belly Syndrome Using Vastus Lateralis Muscle Flaps: A Prospective Observational Study.

Plastic and reconstructive surgery2026 Mar 17

Prune Belly Syndrome (PBS) is a rare congenital disorder characterized by severe abdominal wall muscle deficiency, leading to significant impairment of respiratory, urinary, and gastrointestinal function. Despite numerous reconstructive attempts, no technique has achieved full functional restoration of the anterior abdominal wall. This paper introduces a novel dynamic reconstructive approach using bilateral pedicled musculo-fascial Vastus Lateralis (VL) flaps for functional abdominal wall reconstruction in PBS. Unlike traditional abdominoplasty-based procedures that mainly address cosmetic deformity, this method focuses on restoring true muscle dynamics and physiological function. The technique involves harvesting innervated, vascularized VL flaps from both thighs and transposing them to the anterior abdominal wall through a subcutaneous tunnel while preserving their neurovascular pedicles. The muscles are anchored to the costal arch superiorly and the pubic symphysis inferiorly, effectively recreating the functional vector of the rectus abdominis. This configuration enables dynamic contraction of the abdominal wall and reinstates the ability to generate intra-abdominal pressure required for coughing, defecation, and postural control. Follow-up assessment, including electromyography (EMG) and motor testing, confirmed active muscle contraction and marked improvement in core function. Patients demonstrated restored abdominal wall activity, enhanced motor abilities, and reduced symptoms related to ineffective intra-abdominal pressure, such as constipation and respiratory infections. This study presents the first reproducible surgical solution achieving both anatomical reconstruction and functional reanimation of the abdominal wall in PBS. The described technique offers a transformative step in pediatric reconstructive surgery, combining microsurgical precision with physiological restoration to improve long-term quality of life.

#3

Clinical Presentation and Long-Term Outcomes of Prune Belly Syndrome in a Tertiary Hospital.

Archivos espanoles de urologia2026 Jan

Prune belly syndrome (PBS) is a rare congenital disorder defined by deficient abdominal musculature, urinary tract anomalies and cryptorchidism. Clinical presentation is variable, and extrarenal malformations are common. A retrospective descriptive study of seven patients diagnosed with PBS between 1990 and 2024 in a tertiary-care hospital was carried out. Clinical, biochemical, radiological, auxological and surgical data were reviewed. All patients had megacystis and abdominal muscle hypoplasia. Megalourethra was observed in three (43%), cryptorchidism in six (86%), hydronephrosis in all cases and renal dysplasia in four (57%). Extrarenal anomalies included congenital heart disease in three patients (43%), musculoskeletal defects in three (43%) and other malformations in two (28%). Mean serum creatinine level was 0.83 mg/dL at birth and 1.30 mg/dL at the last follow-up. Two patients (28%) required clean intermittent catheterisation, and one (14%) underwent renal transplantation at 14 years. Surgical procedures included orchidopexy in five patients (71%), vesicostomy in four (57%) and Mitrofanoff appendicovesicostomy in one patient. PBS is a rare disorder with a heterogeneous clinical spectrum. This cohort revealed a high prevalence of cardiac anomalies. Renal dysplasia, recurrent urinary tract infections and delayed surgical intervention were associated with progressive renal impairment. Management in centres with multidisciplinary teams is essential.

#4

A Case Report of a Syndromic Triad of Persistent Urogenital Sinus, Herlyn-Werner-Wunderlich Syndrome, and Prune Belly Syndrome in a Neonate.

European journal of pediatric surgery reports2026 Jan

We present a case of a premature female neonate with a triad of persistent urogenital sinus with urinary ascites, bilateral hydrocolpos in a duplex uterus, and abdominal wall hypoplasia resembling Prune Belly-like syndrome, combined with severe bilateral cystic dysplastic kidneys and complex urinary obstruction. A female infant was born at 34 3/7 weeks' gestation via cesarean section due to prenatal detection of hydrops fetalis and massive urinary ascites. Prenatal ultrasound had shown oligohydramnios, ascites, megacystis, and hydrocolpos. Postnatally, urinary ascites, a persistent urogenital sinus, severe upper urinary tract dilation, bilateral dysplastic kidneys, and an obstructive vaginal septum were confirmed. Management included staged urinary drainage, vaginal septum incision, intensive respiratory and renal support, and multidisciplinary care. This unique combination of anomalies presents significant diagnostic and therapeutic challenges. Early recognition and individualized multidisciplinary management are essential to improve postnatal outcomes and guide long-term planning in such cases.

#5

Clinical manifestations and management of prune-belly syndrome: A 20-year single center experience.

Journal of pediatric urology2026 Feb 07

Prune Belly Syndrome (PBS) is a rare congenital disorder characterized by abdominal wall musculature deficiency, cryptorchidism, and urinary tract abnormalities. Clinical presentation is highly variable, with multisystem involvement and a wide range of urologic and renal outcomes. Long-term data from contemporary pediatric cohorts remain limited. We conducted a retrospective review of pediatric patients diagnosed with PBS and followed at a tertiary pediatric urology center between 2002 and 2024. Demographic, clinical, surgical, and urodynamic data were extracted from electronic records. Renal function was assessed by estimated glomerular filtration rate and CKD staging. Comparative analyses were performed between subgroups using Student's t-test or Fisher's exact test, where appropriate. Multivariate logistic regression was performed to evaluate predictors of progression to CKD and renal transplant. Sixty-four patients (61 males, 3 females) with a median follow-up of 12.6 years were included. Hydronephrosis (87.5 %), vesicoureteral reflux (73.4 %), and recurrent UTIs (76.6 %) were common. Nearly all patients underwent surgical intervention, most frequently orchidopexy (83.6 %), vesicostomy (23.4 %), and appendicovesicostomy (35.9 %). Abdominal wall reconstruction was performed in 45.3 % of patients. CIC was utilized by 35.9 %, typically via a continent catheterizable channel. Urodynamic studies demonstrated large, compliant bladders with impaired emptying. CKD developed in 48.4 % of patients, and 17.2 % required renal transplantation, with nadir serum creatinine in infancy predictive of long-term outcomes. PBS requires lifelong, multidisciplinary care. Early identification of patients at risk for CKD, proactive bladder management, and coordinated reconstructive surgery are critical to optimizing outcomes. These results reinforce the importance of integrating functional and quality-of-life goals into care planning. Future prospective studies are needed to refine surgical timing, preserve renal function, and better characterize long-term quality-of-life outcomes.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC518 artigos no totalmostrando 163

2026

Functional Reconstruction of Abdominal Wall in Prune Belly Syndrome Using Vastus Lateralis Muscle Flaps: A Prospective Observational Study.

Plastic and reconstructive surgery
2026

Clinical Presentation and Long-Term Outcomes of Prune Belly Syndrome in a Tertiary Hospital.

Archivos espanoles de urologia
2026

A Case Report of a Syndromic Triad of Persistent Urogenital Sinus, Herlyn-Werner-Wunderlich Syndrome, and Prune Belly Syndrome in a Neonate.

European journal of pediatric surgery reports
2026

Clinical manifestations and management of prune-belly syndrome: A 20-year single center experience.

Journal of pediatric urology
2026

Management of an infant with prune belly syndrome under caudal anaesthesia undergoing laparoscopic surgery.

BMJ case reports
2026

Ureteral versus appendiceal Mitrofanoff channels: a retrospective analysis of functional outcomes and complications.

BMC surgery
2026

A case of prune belly syndrome with patent urachus: Pediatric surgical aspects of a rare case report.

Radiology case reports
2025

Ruptured spinal dural arteriovenous fistula with subdural hematoma: A case report.

Surgical neurology international
2025

Diagnostic and management challenges of prune belly syndrome in a low-income country: a neonatal case report.

Journal of surgical case reports
2025

Unique Dental and Craniofacial Manifestations of Hypoplastic Amelogenesis Imperfecta in a Patient With Prune Belly Syndrome: A Rare Case Report.

Case reports in dentistry
2025

Case Report: A rare case of prune belly syndrome with intraperitoneal cryptorchidism.

Frontiers in pediatrics
2025

Beyond borders: Prune belly syndrome unveiled in a nine-year-old Pakistani boy.

JPMA. The Journal of the Pakistan Medical Association
2025

Generation of induced pluripotent stem cell line, NCHi028-A, from a male child with Prune Belly Syndrome.

Stem cell research
2025

Co-occurring non-urinary congenital anomalies among cases with congenital anomalies of the kidney and urinary tract.

European journal of medical genetics
2024

Anatomic and Functional Reconstruction of the Abdominal Wall in Prune Belly Syndrome: A Case Report.

Cureus
2025

Outcomes of Growth-Friendly Surgical Treatment of Early Onset Scoliosis in Children With Prune Belly Syndrome: A Preliminary Report.

Journal of pediatric orthopedics
2025

Long-term outcomes of kidney replacement therapy in Australians with prune belly syndrome.

Journal of paediatrics and child health
2024

A new spectrum of neonatal urethral pathologies in the era of early vesicoamniotic shunting?

World journal of urology
2024

Prune belly syndrome in a neonate with severe bilateral hydronephrosis: A rare case report from Somalia.

International journal of surgery case reports
2024

Prune belly syndrome: A rare case report.

Clinical case reports
2025

Prune-belly Syndrome: An Update.

Current pediatric reviews
2024

The challenging diagnosis and management of the prune belly syndrome: A case report.

SAGE open medical case reports
2024

Combined Double-breasted Full-thickness Abdominal Flap Plication and Acellular Dermal Matrix in Prune-belly Syndrome Reconstruction.

Plastic and reconstructive surgery. Global open
2024

Novel minimally invasive abdominoplasty for selected cases of prune belly syndrome: Step-by-step technique description and clinical indications.

Journal of pediatric urology
2024

Fertility prospects for the prune-belly patient: A scoping review.

Journal of pediatric urology
2024

Syndromic and single gene disorders associated with fetal megacystis (I): Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS).

Taiwanese journal of obstetrics &amp; gynecology
2024

Chromosomal abnormalities associated with fetal megacystis.

Taiwanese journal of obstetrics &amp; gynecology
2024

Case of Urethral Hypoplasia in Prune Belly Syndrome Successfully Managed With Vesicoamniotic Shunts and a Progressive Augmentation by Dilation Urethra Anterior Procedure.

Urology
2024

PIEZO1 loss-of-function compound heterozygous mutations in the rare congenital human disorder Prune Belly Syndrome.

Nature communications
2023

DIS3L2 Gene Mutation Causes the Perlman Syndrome of Overgrowth and Wilms Tumor Susceptibility.

Cureus
2024

Volume of the normal prostate gland in polish boys, aged 1-17 years: Based on transabdominal ultrasound - Prospective study.

Journal of pediatric urology
2024

Troubleshooting Tips for Diagnosing Complex Fetal Genitourinary Malformations.

Radiographics : a review publication of the Radiological Society of North America, Inc
2023

Prune Belly Syndrome in a Female Newborn following In Vitro Fertilization-Induced Pregnancy: A Case Report and Literature Review.

Case reports in urology
2024

Kidney function and transplants in prune belly syndrome: a scoping review.

Pediatric nephrology (Berlin, Germany)
2023

Simultaneous second-stage Fowler-Stephens Orchiopexy and microvascular testicular autotransplantation in a patient with prune belly syndrome with cryptorchidism.

Journal of surgical case reports
2023

Rapid reversal of left ventricular enlargement after percutaneous closure of pulmonary sequestration in a newborn with prune belly syndrome.

Turk gogus kalp damar cerrahisi dergisi
2023

Lower Urinary Tract Obstruction in Newborns.

Advances in pediatrics
2023

Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome.

Journal of rare diseases (Berlin, Germany)
2024

The Toronto nomogram: A Bayesian meta-regression derived prenatal ultrasound index to predict lower urinary tract obstruction and prune belly syndrome.

Prenatal diagnosis
2024

Single-center outcome analysis of 46 fetuses with megacystis after intrauterine vesico-amniotic shunting with the Somatex®intrauterine shunt.

Archives of gynecology and obstetrics
2023

Fetal Megacystis: Associated Structural Abnormalities and Obstetric Outcomes.

Fetal and pediatric pathology
2023

A case of prune belly syndrome: Experience from a regional hospital in Togo.

International journal of surgery case reports
2023

Technical details and long-term outcomes of P.A.D.U.A. for congenital urethral narrowing; a case series and review of the literature.

Journal of pediatric urology
2023

Prune-belly syndrome with severe lordosis.

Prenatal diagnosis
2022

Management of Abdominal Wall Defects.

The Surgical clinics of North America
2022

Medium and Long-Term Clinical Outcomes of Kidney Transplantation in Patients With Prune Belly Syndrome: A Single-Centre Experience.

Urology
2022

Pregnant patient with prune belly syndrome: case report.

Einstein (Sao Paulo, Brazil)
2023

Dental treatment of patients with prune belly syndrome.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2022

Study of Penis Structure and Development in Fetus With Prune Belly Syndrome.

Urology
2022

Robotic treatment of ureteropelvic junction obstruction in Eagle-Barrett Syndrome.

The Canadian journal of urology
2022

Prune Belly Syndrome Associated with Interstitial 17q12 Microdeletion.

Case reports in urology
2022

Comments on the paper Surgical approach to prune belly syndrome: A review of our series and novel surgical technique.

Journal of pediatric urology
2021

Third Renal Transplant in a Patient With Prune Belly Syndrome.

Cureus
2022

Bladder Cancer in a Long-term Survivor of the Prune Belly Syndrome.

Urology
2021

Case Report: Novel Copy Number Variant 16p11.2 Duplication Associated With Prune Belly Syndrome.

Frontiers in pediatrics
2021

Surgical approach to prune-belly syndrome: A review of our series and novel surgical technique.

Journal of pediatric urology
2021

MP44-09 UNDERSTANDING PRUNE BELLY SYNDROME AT SINGLE CELL RESOLUTION.

The Journal of urology
2021

Robotic abdominoplasty for abdominal wall lateral bulging repair in an adult prune belly syndrome patient: a novel approach.

Hernia : the journal of hernias and abdominal wall surgery
2021

Prune belly syndrome in Finland - A population-based study on current epidemiology and hospital admissions.

Journal of pediatric urology
2021

Hypoplasia of abdominal wall muscles following massive fetal persistent chylous ascites without anemia.

Oxford medical case reports
2021

Modern management of and update on prune belly syndrome.

Journal of pediatric urology
2021

A rare case report of prune belly syndrome with malnutrition.

Oxford medical case reports
2021

[Cryptorchidism in Prune Belly syndrome].

Le Mali medical
2021

Respiratory support in the absence of abdominal muscles: A case study of ventilatory management in prune belly syndrome.

Paediatric respiratory reviews
2020

A novel technique of abdominoplasty for prune belly syndrome.

African journal of paediatric surgery : AJPS
2020

Megacystis-microcolon-intestinal hypoperistalsis syndrome associated with cystic fibrosis and meconium peritonitis in a female neonate 4 days of age - case report and review of the literature.

Medicine and pharmacy reports
2020

Unusual variant of pseudo prune belly syndrome.

BMJ case reports
2020

Impact of the COVID-19 pandemic on the surgical activity of Pediatric Urology: analysis of postoperative complications according to the Clavien-Dindo classification.

Actas urologicas espanolas
2020

Successful sperm retrieval in prune belly syndrome.

Asian journal of urology
2020

Fetal bladder outflow obstruction: Interventions, outcomes and management uncertainties.

Early human development
2020

Prune perineum surgical correction - Treatment of a rare syndrome.

Journal of pediatric urology
2020

Prune-Belly syndrome, a rare case presentation in neonatology: about one case in Yaounde, Cameroon.

The Pan African medical journal
2019

Challenging cases in urology: Hematuria in a man with prune belly syndrome.

Urology times
2021

The role of intra-abdominal pressure in human testicular migration.

International braz j urol : official journal of the Brazilian Society of Urology
2020

Are pressure pop-offs beneficial to the bladder in boys with posterior urethral valves?

Journal of pediatric urology
2020

Demographics and baseline care among newly transitioning adult congenital urology patients.

Journal of pediatric urology
2020

A rare case of peritonitis in a young woman on peritoneal dialysis.

CEN case reports
2020

Gonadal Function and Reproductive System Anatomy in Postpubertal Prune-Belly Syndrome Patients.

Urology
2021

Challenges in pediatric urologic practice: a lifelong view.

World journal of urology
2020

Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene.

BMC medical genetics
2020

Anterior and posterior rectus abdominis sheath stiffness in relation to diastasis recti: Abdominal wall training or not?

Journal of bodywork and movement therapies
2020

Prune Belly Syndrome in the Pig (Sus scrofa domesticus).

Journal of comparative pathology
2020

Two cases of Prune Belly Syndrome from Kagera Region Tanzania.

The East African health research journal
2020

Study of prostate growth in prune belly syndrome and anencephalic fetuses.

Journal of pediatric surgery
2019

Renal Arterial Doppler Resistive Index in Differentiating Obstructive and Non-Obstructive Hydronephrosis in Children at Tikur Anbessa Specialized Hospital, Ethiopia, October, 2018.

Ethiopian journal of health sciences
2019

Prune belly syndrome: current perspectives.

Pediatric health, medicine and therapeutics
2019

Long term follow-up in a patient with prune-belly syndrome - a care compliant case report.

Medicine
2019

Do prune-belly syndrome and neural tube defects change testicular growth? A study on human fetuses.

Journal of pediatric urology
2019

Challenging diagnosis of prune belly syndrome antenatally: a case report.

Journal of medical case reports
2019

Pseudo Prune Belly syndrome: a case report with unilateral abdominal defect.

Radiology case reports
2019

A Neonate with Prune Belly Syndrome and Limb Reduction Defect.

Indian journal of pediatrics
2019

The Cost of Uncertainty: A Patient's Perspective.

Journal of the American College of Radiology : JACR
2019

Congenital Disorders of the Human Urinary Tract: Recent Insights From Genetic and Molecular Studies.

Frontiers in pediatrics
2019

Pfeiffer Syndrome Type 3 and Prune Belly Anomaly in a Female: Case Report and Review.

Fetal and pediatric pathology
2020

Long-term Outcome of Renal Transplantation in Patients with Congenital Lower Urinary Tract Malformations: A Multicenter Study.

Transplantation
2019

Differences in Linea Alba Stiffness and Linea Alba Distortion Between Women With and Without Diastasis Recti Abdominis: The Impact of Measurement Site and Task.

The Journal of orthopaedic and sports physical therapy
2019

Prenatal imaging of genital defects: clinical spectrum and predictive factors for severe forms.

BJU international
2020

An Autopsy Case Report: Prune Belly Syndrome with Overlapping Presentation of Partial Urorectal Septum Malformation Sequence.

Turk patoloji dergisi
2019

A potential serious complication in infants with congenital obstructive uropathy: Secondary pseudohypoaldosteronism.

JPMA. The Journal of the Pakistan Medical Association
2018

Prune belly syndrome: Approaches to its diagnosis and management.

Intractable &amp; rare diseases research
2018

Exploration of the fetus with gross anomaly: a case of pseudo prune belly syndrome.

Anatomy &amp; cell biology
2018

Copy number variations in a population with prune belly syndrome.

American journal of medical genetics. Part A
2018

Living-related kidney transplantation with catheterizable urinary conduit in prune belly syndrome: A case report.

International journal of surgery case reports
2018

Corrigendum: Vesicoamniotic Shunting Improves Outcomes in a Subset of Prune Belly Syndrome Patients at a Single Tertiary Center.

Frontiers in pediatrics
2019

Phenotypic severity scoring system and categorisation for prune belly syndrome: application to a pilot cohort of 50 living patients.

BJU international
2018

Prenatal renal parenchymal area as a predictor of early end-stage renal disease in children with vesicoamniotic shunting for lower urinary tract obstruction.

Journal of pediatric urology
2019

Management of Congenital Urethral Strictures In Infants. Case Series.

Urology journal
2018

Vesicoamniotic Shunting Improves Outcomes in a Subset of Prune Belly Syndrome Patients at a Single Tertiary Center.

Frontiers in pediatrics
2018

Collagen I and III in women with diastasis recti.

Clinics (Sao Paulo, Brazil)
2018

Minimal Invasive Linea Alba Reconstruction for the Treatment of Umbilical and Epigastric Hernias with Coexisting Rectus Abdominis Diastasis.

Journal of laparoendoscopic &amp; advanced surgical techniques. Part A
2018

Diastasis recti abdominis - a review of treatment methods.

Ginekologia polska
2018

Three cases of prune belly syndrome at the Lagos State University Teaching Hospital, Ikeja.

Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia
2018

Pediatric patient with end-stage kidney disease secondary to Eagle-Barrett syndrome and metastatic unresectable hepatoblastoma treated successfully with chemotherapy and liver-kidney transplant.

Pediatric transplantation
2017

Quadratus lumborum block for post-operative pain relief in patient with Prune belly syndrome.

Indian journal of anaesthesia
2017

Prune belly syndrome: A report of 15 cases from Sudan.

Sudanese journal of paediatrics
2017

Unusual presentation of prune belly syndrome: a case report.

Journal of medical case reports
2018

Rare copy number variants identified in prune belly syndrome.

European journal of medical genetics
2017

A newborn with abdominal distension.

Journal of paediatrics and child health
2017

"Pseudo-prune belly syndrome": An under-reported phenotypic variant of prune belly syndrome.

Journal of pediatric urology
2017

Combined laparoscopic and open technique for repair of congenital abdominal hernia: A case report of prune belly syndrome.

Medicine
2018

Diastasis of rectus abdominis muscles in low back pain patients.

Journal of back and musculoskeletal rehabilitation
2018

Outcomes of renal replacement therapy in boys with prune belly syndrome: findings from the ESPN/ERA-EDTA Registry.

Pediatric nephrology (Berlin, Germany)
2017

Type V Pouch Colon, Prune Belly Syndrome, and Congenital Anterior Urethrocutaneous Fistula.

Journal of neonatal surgery
2017

Study of Testicular Structure in Fetuses with Prune Belly Syndrome.

Advances in urology
2018

Structural study of the bladder in fetuses with prune belly syndrome.

Neurourology and urodynamics
2017

Prune Belly Syndrome with Sacrococcygeal Teratoma.

Indian journal of pediatrics
2017

Pseudo Prune Belly Syndrome: Diagnosis Revealed by Imaging - A Case Report and Brief Review.

Polish journal of radiology
2017

Prenatal detection of megacystis: not always an adverse prognostic factor. Experience in 25 consecutive cases in a tertiary referral center, with complete neonatal outcome and follow-up.

Journal of pediatric urology
2017

Abdominoplasty in prune belly syndrome: Modifications in Monfort technique to address variable patterns of abdominal wall weakness.

Journal of pediatric urology
2017

Fetal megacystis: A systematic review.

Journal of pediatric urology
2015

[Video-assisted sigmoidectomy as an option for Sigmoid volvulus management in the pediatric population].

Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica
2016

Prune Belly Syndrome with Situs Inversus Abdominus.

Journal of neonatal surgery
2016

It's not All Doom and Gloom: Prune Belly Syndrome Associated with VACTERL.

Journal of neonatal surgery
2016

PATTERN AND OUTCOME OF RENAL DISEASES IN HOSPITALIZED CHILDREN IN TIKUR ANBESSA SPECIALIZED TEACHING HOSPITAL, ADDIS ABABA, ETHIOPIA.

Ethiopian medical journal
2016

What is the outcome of paediatric gastrocystoplasty when the patients reach adulthood?

BJU international
2016

Further evidence of the etiology of prune belly syndrome provided by a transient massive intraabdominal cyst in a female.

Journal of pediatric surgery
2016

Clinical manifestations of prune belly syndrome.

Clinical medicine (London, England)
2016

Regarding commentary to: Detailed evaluation of the upper urinary tract in patients with Prune Belly Syndrome using magnetic resonance urography.

Journal of pediatric urology
2016

Genetics of Vesicoureteral Reflux.

Current genomics
2016

Trends in Renal Transplantation Rates in Patients with Congenital Urinary Tract Disorders.

The Journal of urology
2016

Commentary to "Detailed evaluation of the upper urinary tract in patients with prune belly syndrome using magnetic resonance urography".

Journal of pediatric urology
2016

Proposed technique for open repair of a small umbilical hernia and rectus divarication with self-gripping mesh.

Hernia : the journal of hernias and abdominal wall surgery
2016

Detailed evaluation of the upper urinary tract in patients with prune belly syndrome using magnetic resonance urography.

Journal of pediatric urology
2016

Isolated hypoplasia of abdominal wall muscles associated with fetal ascites.

Congenital anomalies
2016

Corset Usage for Gastrointestinal and Respiratory Problems in a Newborn with Prune Belly Syndrome.

Indian journal of pediatrics
2016

OUTCOMES OF POSTERIOR SAGITTAL ANORECTOPLASTY FOR HIGH ANORECTAL MALFORMATION IN BENIN CITY, NIGERIA.

Journal of the West African College of Surgeons
2016

Megaureter detection through renal scintigraphy scan: Prune-Belly syndrome.

Revista espanola de medicina nuclear e imagen molecular
2016

Health-related Quality of Life in Children With Prune-belly Syndrome and Their Caregivers.

Urology
2016

Suspected Urine Leak in a Pediatric Renal Transplant Patient With Prune Belly Syndrome.

Clinical nuclear medicine
2016

Outcomes of living donor renal transplantation in children with lower urinary tract dysfunction: a comparative retrospective study.

BJU international
2015

[Multiple bladder diverticula caused by occipital horn syndrome].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2015

Commentary to "27 years of experience with the comprehensive surgical management of prune belly syndrome".

Journal of pediatric urology
2015

Impact and frequency of extra-genitourinary manifestations of prune belly syndrome.

Journal of pediatric urology
2015

Abdominoplasty in Prune Belly Syndrome.

Journal of pediatric urology
2015

[Diastasis Recti Abdominis and Pregnancy].

Praxis
2015

Commentary to '27 years of experience with the comprehensive surgical management of prune belly syndrome'.

Journal of pediatric urology
2015

27 years of experience with the comprehensive surgical treatment of prune belly syndrome.

Journal of pediatric urology
2015

Clear cell adenocarcinoma of the bladder with intravesical cervical invasion.

BMJ case reports
2015

Three-dimensional magnetic resonance imaging overlay to assist with percutaneous transhepatic access at the time of cardiac catheterization.

Annals of pediatric cardiology
2015

Seminoma in Cryptorchid Testis in Prune Belly Syndrome.

The Journal of urology
2015

A First Description of Prune Belly Syndrome in Central Africa.

Pediatrics and neonatology
2015

Urachal bladder in kidney transplanted patient with Prune Belly syndrome and patent urachus.

Revista espanola de medicina nuclear e imagen molecular
2014

Anesthetic experience of a patient with Prune-belly syndrome.

Korean journal of anesthesiology
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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

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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. Management of an infant with prune belly syndrome under caudal anaesthesia undergoing laparoscopic surgery.
    BMJ case reports· 2026· PMID 41667200mais citado
  2. Functional Reconstruction of Abdominal Wall in Prune Belly Syndrome Using Vastus Lateralis Muscle Flaps: A Prospective Observational Study.
    Plastic and reconstructive surgery· 2026· PMID 41843910mais citado
  3. Clinical Presentation and Long-Term Outcomes of Prune Belly Syndrome in a Tertiary Hospital.
    Archivos espanoles de urologia· 2026· PMID 41775349mais citado
  4. A Case Report of a Syndromic Triad of Persistent Urogenital Sinus, Herlyn-Werner-Wunderlich Syndrome, and Prune Belly Syndrome in a Neonate.
    European journal of pediatric surgery reports· 2026· PMID 41743111mais citado
  5. Clinical manifestations and management of prune-belly syndrome: A 20-year single center experience.
    Journal of pediatric urology· 2026· PMID 41719823mais citado
  6. Laparoscopic nephroureterectomy in Prune Belly Syndrome: a case report.
    Int J Surg Case Rep· 2026· PMID 41938405recente
  7. Vaginal delivery in a woman with prune belly syndrome: a case report.
    AJOG Glob Rep· 2026· PMID 41907047recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2970(Orphanet)
  2. OMIM OMIM:100100(OMIM)
  3. MONDO:0007032(MONDO)
  4. GARD:7479(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q250354(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

Síndrome "prune belly"
Compêndio · Raras BR

Síndrome "prune belly"

ORPHA:2970 · MONDO:0007032
Prevalência
Unknown
Herança
Autosomal dominant, Not applicable, X-linked recessive
CID-10
Q79.4 · Síndrome do abdome em ameixa seca ("prune belly syndrome")
CID-11
Ensaios
1 ativos
Início
Antenatal, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0033770
EuropePMC
Wikidata
Papers 10a
Evidência
🥉 Relato de caso
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