U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Prune belly syndrome(PBS)

MedGen UID:
18718
Concept ID:
C0033770
Disease or Syndrome
Synonyms: Abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism; Eagle-Barrett syndrome; PBS; Prune belly
SNOMED CT: Prune belly syndrome (5187006); Triad syndrome (5187006)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): CHRM3 (1q43)
 
HPO: HP:0004392
Monarch Initiative: MONDO:0007032
OMIM®: 100100
Orphanet: ORPHA2970

Definition

In its rare complete form, 'prune belly' syndrome (PBS) comprises megacystis (massively enlarged bladder) with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin (summary by Weber et al., 2011). [from OMIM]

Clinical features

From HPO
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Hydronephrosis
MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
Congenital posterior urethral valve
MedGen UID:
451008
Concept ID:
C0238506
Congenital Abnormality
A developmental defect resulting in an obstructing membrane in the posterior male urethra.
Hydroureter
MedGen UID:
101073
Concept ID:
C0521620
Anatomical Abnormality
The distention of the ureter with urine.
Clubfoot
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Imperforate anus
MedGen UID:
1997
Concept ID:
C0003466
Congenital Abnormality
Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
Prune belly syndrome
MedGen UID:
18718
Concept ID:
C0033770
Disease or Syndrome
In its rare complete form, 'prune belly' syndrome (PBS) comprises megacystis (massively enlarged bladder) with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin (summary by Weber et al., 2011).
Congenital hip dislocation
MedGen UID:
9258
Concept ID:
C0019555
Disease or Syndrome
Pectus carinatum
MedGen UID:
57643
Concept ID:
C0158731
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Aplasia of the abdominal wall musculature
MedGen UID:
460573
Concept ID:
C3149223
Finding
Absence of the abdominal musculature.
Xerostomia
MedGen UID:
22735
Concept ID:
C0043352
Disease or Syndrome
Dryness of the mouth due to salivary gland dysfunction.
Oligohydramnios
MedGen UID:
86974
Concept ID:
C0079924
Pathologic Function
Diminished amniotic fluid volume in pregnancy.
Slow pupillary light response
MedGen UID:
868184
Concept ID:
C4022576
Finding
Reduced velocity and acceleration in the pupillary light response.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrune belly syndrome

Conditions with this feature

Prune belly syndrome
MedGen UID:
18718
Concept ID:
C0033770
Disease or Syndrome
In its rare complete form, 'prune belly' syndrome (PBS) comprises megacystis (massively enlarged bladder) with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin (summary by Weber et al., 2011).
Prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness
MedGen UID:
96043
Concept ID:
C0403551
Disease or Syndrome
Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction
MedGen UID:
318617
Concept ID:
C1832391
Disease or Syndrome
Lymphatic malformation 6
MedGen UID:
908120
Concept ID:
C4225184
Disease or Syndrome
Lymphatic malformation-6 is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPHM6, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema, but childhood onset of lymphedema with or without systemic involvement also occurs. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.
Intellectual developmental disorder, autosomal recessive 71
MedGen UID:
1673448
Concept ID:
C5193133
Disease or Syndrome
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
MedGen UID:
1788773
Concept ID:
C5543476
Disease or Syndrome
Megacystis-microcolon-intestinal hypoperistalsis syndrome-2 (MMIHS2) is characterized by prenatal bladder enlargement, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition and urinary catheterization. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure (summary by Wang et al., 2019). For a discussion of genetic heterogeneity of MMIHS, see 249210.

Professional guidelines

PubMed

Quilici G, Tolarova MM, Quilici M, Quilici DL
Spec Care Dentist 2023 Jan;43(1):67-72. Epub 2022 May 8 doi: 10.1111/scd.12728. PMID: 35526214Free PMC Article
Lopes RI, Baker LA, Dénes FT
J Pediatr Urol 2021 Aug;17(4):548-554. Epub 2021 Apr 24 doi: 10.1016/j.jpurol.2021.04.010. PMID: 34016542Free PMC Article
Farrugia MK
Early Hum Dev 2020 Nov;150:105189. Epub 2020 Sep 10 doi: 10.1016/j.earlhumdev.2020.105189. PMID: 32978001

Recent clinical studies

Etiology

Khondker A, Ahmad I, Kim K, Malik S, Kim JK, Chua M, Richter J, Chan JY, Baker LA, Lorenzo AJ, Rickard M
Pediatr Nephrol 2024 Apr;39(4):1053-1063. Epub 2023 Nov 16 doi: 10.1007/s00467-023-06209-0. PMID: 37968538
Flores-Torres J, Sanchez-Valle A, Duncan JR, Panzarino V, Rodriguez JM, Kirby RS
Adv Pediatr 2023 Aug;70(1):131-144. Epub 2023 May 15 doi: 10.1016/j.yapd.2023.03.001. PMID: 37422291
Fernández-Bautista B, Angulo JM, Burgos L, Ortiz R, Parente A
J Pediatr Urol 2021 Oct;17(5):704.e1-704.e6. Epub 2021 Jul 27 doi: 10.1016/j.jpurol.2021.07.018. PMID: 34376330
Michalska A, Rokita W, Wolder D, Pogorzelska J, Kaczmarczyk K
Ginekol Pol 2018;89(2):97-101. doi: 10.5603/GP.a2018.0016. PMID: 29512814
Jennings RW
Semin Pediatr Surg 2000 Aug;9(3):115-20. doi: 10.1053/spsu.2000.7556. PMID: 10949420

Diagnosis

Flores-Torres J, Sanchez-Valle A, Duncan JR, Panzarino V, Rodriguez JM, Kirby RS
Adv Pediatr 2023 Aug;70(1):131-144. Epub 2023 May 15 doi: 10.1016/j.yapd.2023.03.001. PMID: 37422291
Staab V
Surg Clin North Am 2022 Oct;102(5):809-820. Epub 2022 Sep 13 doi: 10.1016/j.suc.2022.07.011. PMID: 36209747
Viaño Nogueira P, Sánchez Fernández-Bravo C, Bascuas Arribas M, Velasco Rodríguez-Belvís M
Med Clin (Barc) 2020 Dec 24;155(12):568. Epub 2019 Nov 25 doi: 10.1016/j.medcli.2019.09.002. PMID: 31780211
Hassett S, Smith GH, Holland AJ
Pediatr Surg Int 2012 Mar;28(3):219-28. Epub 2011 Dec 25 doi: 10.1007/s00383-011-3046-6. PMID: 22198807
Jennings RW
Semin Pediatr Surg 2000 Aug;9(3):115-20. doi: 10.1053/spsu.2000.7556. PMID: 10949420

Therapy

Khondker A, Ahmad I, Kim K, Malik S, Kim JK, Chua M, Richter J, Chan JY, Baker LA, Lorenzo AJ, Rickard M
Pediatr Nephrol 2024 Apr;39(4):1053-1063. Epub 2023 Nov 16 doi: 10.1007/s00467-023-06209-0. PMID: 37968538
Haberal HB, Zakri R, Olsburgh J
Urology 2022 Nov;169:245-249. Epub 2022 Aug 29 doi: 10.1016/j.urology.2022.08.023. PMID: 36049630
Demisse AG, Berhanu A, Tadesse T
J Med Case Rep 2017 Dec 4;11(1):337. doi: 10.1186/s13256-017-1487-9. PMID: 29198187Free PMC Article
Fearon JA, Varkarakis G
Plast Reconstr Surg 2012 Sep;130(3):648-657. doi: 10.1097/PRS.0b013e31825dc170. PMID: 22929250
Hinman F Jr
J Urol 1980 Apr;123(4):548-51. doi: 10.1016/s0022-5347(17)56016-4. PMID: 6102609

Prognosis

Grimsby GM, Harrison SM, Granberg CF, Bernstein IH, Baker LA
J Pediatr Urol 2015 Oct;11(5):280.e1-6. Epub 2015 Jul 9 doi: 10.1016/j.jpurol.2015.06.005. PMID: 26231776Free PMC Article
Panitch HB
Paediatr Respir Rev 2015 Jan;16(1):11-7. Epub 2014 Oct 23 doi: 10.1016/j.prrv.2014.10.004. PMID: 25458796
Prefumo F, Izzi C
Best Pract Res Clin Obstet Gynaecol 2014 Apr;28(3):391-402. Epub 2013 Dec 3 doi: 10.1016/j.bpobgyn.2013.10.003. PMID: 24342556
Hassett S, Smith GH, Holland AJ
Pediatr Surg Int 2012 Mar;28(3):219-28. Epub 2011 Dec 25 doi: 10.1007/s00383-011-3046-6. PMID: 22198807
Loder RT, Guiboux JP, Bloom DA, Hensinger RN
Am J Dis Child 1992 Oct;146(10):1224-9. doi: 10.1001/archpedi.1992.02160220110034. PMID: 1415053

Clinical prediction guides

Amado NG, Nosyreva ED, Thompson D, Egeland TJ, Ogujiofor OW, Yang M, Fusco AN, Passoni N, Mathews J, Cantarel B, Baker LA, Syeda R
Nat Commun 2024 Jan 6;15(1):339. doi: 10.1038/s41467-023-44594-0. PMID: 38184690Free PMC Article
Moreno AEC, Montenegro MA, Santos PAN, Andrade DA, Pinto LA, Patrocínio MCA, Alves JAG
Einstein (Sao Paulo) 2022;20:eRC6903. Epub 2022 Aug 22 doi: 10.31744/einstein_journal/2022RC6903. PMID: 36000615Free PMC Article
Gallo CBM, Sampaio FJB, Pires RDS, Viana HM, Logsdon NT, Favorito LA
Urology 2022 Aug;166:283-288. Epub 2022 May 4 doi: 10.1016/j.urology.2022.04.017. PMID: 35523289
Prefumo F, Izzi C
Best Pract Res Clin Obstet Gynaecol 2014 Apr;28(3):391-402. Epub 2013 Dec 3 doi: 10.1016/j.bpobgyn.2013.10.003. PMID: 24342556
Osborne NG, Bonilla-Musoles F, Machado LE, Raga F, Bonilla F Jr, Ruiz F, Pérez Guardia CM, Ahluwalia B
J Ultrasound Med 2011 Jun;30(6):833-41. doi: 10.7863/jum.2011.30.6.833. PMID: 21632999

Recent systematic reviews

Taghavi K, Sharpe C, Stringer MD
J Pediatr Urol 2017 Feb;13(1):7-15. Epub 2016 Oct 8 doi: 10.1016/j.jpurol.2016.09.003. PMID: 27889224

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...