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Bladder exstrophy

MedGen UID:
2661
Concept ID:
C0005689
Disease or Syndrome
Synonym: Exstrophy of Bladder
SNOMED CT: Exstrophy of bladder sequence (61758007); Exstrophy of urinary bladder (61758007); Ectopia vesicae (61758007); Congenital extroversion of urinary bladder (61758007); Exstrophy of bladder (61758007); Congenital ectopic bladder (61758007)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
 
HPO: HP:0002836
Monarch Initiative: MONDO:0010805
OMIM®: 600057
Orphanet: ORPHA93930

Definition

Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBladder exstrophy
Follow this link to review classifications for Bladder exstrophy in Orphanet.

Conditions with this feature

Amniotic band syndrome
MedGen UID:
66322
Concept ID:
C0220724
Congenital Abnormality
Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.
Cholestasis-pigmentary retinopathy-cleft palate syndrome
MedGen UID:
208652
Concept ID:
C0795969
Disease or Syndrome
MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. XLOS is characterized by intellectual disability, blepharophimosis, and facial coarsening. HS has been described in females with cleft lip and/or cleft palate, biliary and liver anomalies, intestinal malrotation, pigmentary retinopathy, and coarctation of the aorta. Developmental and cognitive concerns have not been reported in females with HS. Pathogenic variants in MED12 have been reported in an increasing number of males and females with NSID, with affected individuals often having clinical features identified in other MED12-related disorders.
Deficiency of beta-ureidopropionase
MedGen UID:
226944
Concept ID:
C1291512
Disease or Syndrome
Beta-ureidopropionase deficiency is a rare autosomal recessive inborn error of metabolism due to a defect in pyrimidine degradation. Less than 10 patients have been reported, and the phenotype can range from severe neurologic involvement with mental retardation and seizures to normal neurologic development (Yaplito-Lee et al., 2008).
Toriello-Lacassie-Droste syndrome
MedGen UID:
333068
Concept ID:
C1838329
Disease or Syndrome
Oculoectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenita. Affected individuals exhibit congenital scalp lesions which are atrophic, nonscarring, hairless regions that are often multiple and asymmetric in distribution, and may have associated hamartomas. Ectodermal changes include linear hyperpigmentation that may follow the lines of Blaschko and, rarely, epidermal nevus-like lesions. Epibulbar dermoids may be uni- or bilateral. Additional ocular anomalies such as skin tags of the upper eyelid and rarely optic nerve or retinal changes or microphthalmia can be present. Phenotypic expression is highly variable, and various other abnormalities have occasionally been reported, including growth failure, lymphedema, and cardiovascular defects, as well as neurodevelopmental symptoms such as developmental delay, epilepsy, learning difficulties, and behavioral abnormalities. Benign tumor-like lesions such as nonossifying fibromas of the long bones and giant cell granulomas of the jaws have repeatedly been observed and appear to be age-dependent, becoming a common manifestation in individuals aged 5 years or older (summary by Boppudi et al., 2016).
Bladder exstrophy-epispadias-cloacal extrophy complex
MedGen UID:
374033
Concept ID:
C1838703
Disease or Syndrome
Bladder exstrophy and epispadias complex (BEEC) is an anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia (Gearhart and Jeffs, 1998). BEEC is one of the most severe urologic birth defects because of its profound impact on continence, sexual function, and morbidity due to the effect of chronic and recurrent infections on renal function. The term 'exstrophy,' derived from the Greek work ekstriphein, which literally means 'turn inside out,' was first used by Chaussier in 1780. Martinez-Frias et al. (2001) emphasized that exstrophy of the cloaca and exstrophy of the bladder are 2 different expressions of a primary developmental field defect. Cloacal exstrophy is a feature of the OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex (258040). Exstrophy of the cloaca includes the persistence and exstrophy of a common cloaca that receives ureters, ileum, and a rudimentary hindgut and is associated with failure of fusion of the genital tubercles and pubic rami, incomplete development of the lumbosacral vertebrae with spinal dysraphism, imperforate anus, cryptorchidism and epispadias in males and anomalies of the mullerian duct derivatives in females, and a wide range of urinary tract anomalies. Omphalocele is common, and most patients have a single umbilical artery. Reutter et al. (2016) reviewed the epidemiology, potential mechanisms, and animal models for BEEC. They described BEEC as a spectrum of component malformations of variable severity, including epispadias as the mildest phenotype and classic bladder exstrophy as the most common, with cloacal exstrophy representing the most severe form. In approximately one-third of cases, urologic malformations are present, including ectopic kidney, renal agenesis, and/or hydronephrosis. Other malformations involving the gastrointestinal, skeletal, spinal, and genitourinary systems, including cryptorchidism and ambiguous genitalia, are reported frequently. The authors noted that cloacal exstrophy is considered by some to have a different embryologic origin from classic bladder exstrophy.
Exstrophy-epispadias complex
MedGen UID:
338020
Concept ID:
C1850321
Disease or Syndrome
Carey et al. (1978) gave the name OEIS complex to a combination of defects comprising omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects. This rare complex is thought to represent the most severe end of a spectrum of birth defects, the exstrophy-epispadias sequence, which, in order of increasing severity, includes phallic separation with epispadias, pubic diastasis, exstrophy of the bladder (600057), cloacal exstrophy, and OEIS complex. Very few instances of recurrence of anomalies in this cluster have been reported.
Microcephalic osteodysplastic primordial dwarfism, type 3
MedGen UID:
349167
Concept ID:
C1859439
Disease or Syndrome

Professional guidelines

PubMed

Reutter H, Holmdahl G
Eur J Pediatr Surg 2021 Dec;31(6):468-471. Epub 2021 Dec 15 doi: 10.1055/s-0041-1740336. PMID: 34911128
Mallmann MR, Mack-Detlefsen B, Reutter H, Pohle R, Gottschalk I, Geipel A, Berg C, Boemers TM, Gembruch U
Arch Gynecol Obstet 2019 Aug;300(2):355-363. Epub 2019 May 21 doi: 10.1007/s00404-019-05193-x. PMID: 31115647
Roth E, Goetz J, Kryger J, Groth T
Curr Urol Rep 2017 Mar;18(3):19. doi: 10.1007/s11934-017-0667-x. PMID: 28233224

Recent clinical studies

Etiology

Maruf M, Zhu J, Haffar A, Morrill C, Michaud J, Zaman MH, Sholklapper T, Jayman J, Manyevetch R, Davis R, Wu W, Harris TGW, Di Carlo HN, Yenokyan G, Gearhart JP
J Pediatr Urol 2023 Oct;19(5):564.e1-564.e7. Epub 2023 May 12 doi: 10.1016/j.jpurol.2023.05.005. PMID: 37244839
Lee T, Weiss D, Roth E, Bortnick E, Jarosz S, Eftekharzadeh S, Groth T, Shukla A, Kryger JV, Lee RS, Canning DA, Mitchell ME, Borer JG
Urology 2023 Feb;172:174-177. Epub 2022 Nov 30 doi: 10.1016/j.urology.2022.11.020. PMID: 36460061
Reutter H, Holmdahl G
Eur J Pediatr Surg 2021 Dec;31(6):468-471. Epub 2021 Dec 15 doi: 10.1055/s-0041-1740336. PMID: 34911128
Dunn EA, Kasprenski M, Facciola J, Benz K, Maruf M, Zaman MH, Gearhart J, Di Carlo H, Tekes A
Curr Urol Rep 2019 Jul 8;20(9):48. doi: 10.1007/s11934-019-0916-2. PMID: 31286274
Kaufman MR
Curr Urol Rep 2018 Feb 26;19(3):18. doi: 10.1007/s11934-018-0767-2. PMID: 29479649

Diagnosis

Lee T, Weiss D, Roth E, Bortnick E, Jarosz S, Eftekharzadeh S, Groth T, Shukla A, Kryger JV, Lee RS, Canning DA, Mitchell ME, Borer JG
Urology 2023 Feb;172:174-177. Epub 2022 Nov 30 doi: 10.1016/j.urology.2022.11.020. PMID: 36460061
Mallmann MR, Mack-Detlefsen B, Reutter H, Pohle R, Gottschalk I, Geipel A, Berg C, Boemers TM, Gembruch U
Arch Gynecol Obstet 2019 Aug;300(2):355-363. Epub 2019 May 21 doi: 10.1007/s00404-019-05193-x. PMID: 31115647
Pierre K, Borer J, Phelps A, Chow JS
Pediatr Radiol 2014 Jul;44(7):768-86; quiz 765-7. Epub 2014 Jun 18 doi: 10.1007/s00247-014-2892-5. PMID: 24939762
Ebert AK, Reutter H, Ludwig M, Rösch WH
Orphanet J Rare Dis 2009 Oct 30;4:23. doi: 10.1186/1750-1172-4-23. PMID: 19878548Free PMC Article
Hyun SJ
Neonatal Netw 2006 Mar-Apr;25(2):101-15. doi: 10.1891/0730-0832.25.2.101. PMID: 16610483

Therapy

Maruf M, Zhu J, Haffar A, Morrill C, Michaud J, Zaman MH, Sholklapper T, Jayman J, Manyevetch R, Davis R, Wu W, Harris TGW, Di Carlo HN, Yenokyan G, Gearhart JP
J Pediatr Urol 2023 Oct;19(5):564.e1-564.e7. Epub 2023 May 12 doi: 10.1016/j.jpurol.2023.05.005. PMID: 37244839
Morrill CC, Manyevitch R, Haffar A, Wu WJ, Harris KT, Maruf M, Crigger C, Di Carlo HN, Gearhart JP
J Pediatr Urol 2023 Jun;19(3):249.e1-249.e8. Epub 2023 Jan 4 doi: 10.1016/j.jpurol.2023.01.001. PMID: 36690520
Zimmer V, Lammert F
Dig Liver Dis 2019 Nov;51(11):1618. Epub 2019 Sep 30 doi: 10.1016/j.dld.2019.08.026. PMID: 31582325
Sarin YK, Sekhon V
Indian J Pediatr 2017 Sep;84(9):715-720. Epub 2017 Jul 18 doi: 10.1007/s12098-017-2419-9. PMID: 28721463
Meldrum KK, Baird AD, Gearhart JP
Urology 2003 Dec;62(6):1109-13. doi: 10.1016/s0090-4295(03)00791-x. PMID: 14665365

Prognosis

Maruf M, Zhu J, Haffar A, Morrill C, Michaud J, Zaman MH, Sholklapper T, Jayman J, Manyevetch R, Davis R, Wu W, Harris TGW, Di Carlo HN, Yenokyan G, Gearhart JP
J Pediatr Urol 2023 Oct;19(5):564.e1-564.e7. Epub 2023 May 12 doi: 10.1016/j.jpurol.2023.05.005. PMID: 37244839
Lakshminarayanan B, Lakhoo K
Early Hum Dev 2014 Dec;90(12):917-20. Epub 2014 Oct 14 doi: 10.1016/j.earlhumdev.2014.09.018. PMID: 25448781
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
Ebert AK, Reutter H, Ludwig M, Rösch WH
Orphanet J Rare Dis 2009 Oct 30;4:23. doi: 10.1186/1750-1172-4-23. PMID: 19878548Free PMC Article
Stein R, Thüroff JW
Curr Opin Urol 2002 May;12(3):195-200. doi: 10.1097/00042307-200205000-00003. PMID: 11953673

Clinical prediction guides

Maruf M, Zhu J, Haffar A, Morrill C, Michaud J, Zaman MH, Sholklapper T, Jayman J, Manyevetch R, Davis R, Wu W, Harris TGW, Di Carlo HN, Yenokyan G, Gearhart JP
J Pediatr Urol 2023 Oct;19(5):564.e1-564.e7. Epub 2023 May 12 doi: 10.1016/j.jpurol.2023.05.005. PMID: 37244839
Gupta A, Bajpai M, Anand S, Ali A
J Nephrol 2023 Jun;36(5):1409-1414. Epub 2022 Dec 23 doi: 10.1007/s40620-022-01548-x. PMID: 36562911
Suzuki K, Matsumaru D, Matsushita S, Murashima A, Ludwig M, Reutter H, Yamada G
Clin Genet 2017 Feb;91(2):247-253. Epub 2016 Oct 10 doi: 10.1111/cge.12871. PMID: 27649475
K V SK, Mammen A, Varma KK
J Pediatr Urol 2015 Dec;11(6):314-8. Epub 2015 Jul 30 doi: 10.1016/j.jpurol.2015.05.030. PMID: 26316280
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

Recent systematic reviews

Bey E, Perrouin-Verbe B, Reiss B, Lefort M, Le Normand L, Perrouin-Verbe MA
Int Urogynecol J 2021 Jul;32(7):1707-1717. Epub 2021 Jun 14 doi: 10.1007/s00192-021-04856-1. PMID: 34125241
Berrettini A, Sampogna G, Gnech M, Montanari E, Manzoni G, Di Grazia M, Castagnetti M
J Sex Med 2021 Feb;18(2):400-409. Epub 2020 Nov 20 doi: 10.1016/j.jsxm.2020.10.007. PMID: 33223423
Pathak P, Ring JD, Delfino KR, Dynda DI, Mathews RI
J Pediatr Urol 2020 Apr;16(2):149-153. Epub 2020 Jan 14 doi: 10.1016/j.jpurol.2020.01.004. PMID: 32144016
Hu AC, Bertrand AA, Dang BN, Chan CH, Lee JC
Ann Plast Surg 2020 Nov;85(5):574-583. doi: 10.1097/SAP.0000000000002291. PMID: 32040002
Ragu R, Meurette G, Kim M, Le Normand L, Lehur PA
Tech Coloproctol 2016 Nov;20(11):745-752. Epub 2016 Sep 3 doi: 10.1007/s10151-016-1519-2. PMID: 27592221

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