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Cloacal exstrophy

MedGen UID:
83377
•Concept ID:
C0345217
•
Congenital Abnormality
Synonym: Cloacal exstrophy (disease)
SNOMED CT: Exstrophy of cloaca sequence (20815007); Exstrophy of cloaca (20815007); Cloacal exstrophy (20815007)
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.
Non-Mendelian inheritance (Orphanet)
 
HPO: HP:0010475
Monarch Initiative: MONDO:0009774
Orphanet: ORPHA93929

Definition

Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCloacal exstrophy

Conditions with this feature

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.
See: Condition Record
Exstrophy-epispadias complex

Professional guidelines

PubMed

Isolated bladder exstrophy in prenatal diagnosis.
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
The prenatal diagnosis of cloacal exstrophy.
Austin PF, Homsy YL, Gearhart JP, Porter K, Guidi C, Madsen K, Maizels M
J Urol 1998 Sep;160(3 Pt 2):1179-81. doi: 10.1097/00005392-199809020-00061. PMID: 9719304
Prenatal diagnosis and management of the fetus with an abdominal wall defect.
Paidas MJ, Crombleholme TM, Robertson FM
Semin Perinatol 1994 Jun;18(3):196-214. PMID: 7973787

Recent clinical studies

Etiology

Paediatric cystolitholapaxy through the Mitrofanoff/Monti channel.
Thomas JS, Smeulders N, Yankovic F, Undre S, Mushtaq I, López PJ, Cuckow P
J Pediatr Urol 2018 Oct;14(5):433.e1-433.e4. Epub 2018 Apr 4 doi: 10.1016/j.jpurol.2018.02.024. PMID: 29778700
Abdominal wall defects.
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
Cloacal exstrophy: morbidity associated with abnormalities of the gastrointestinal tract and spine.
McHoney M, Ransley PG, Duffy P, Wilcox DT, Spitz L
J Pediatr Surg 2004 Aug;39(8):1209-13. doi: 10.1016/j.jpedsurg.2004.04.019. PMID: 15300529
The prenatal diagnosis of cloacal exstrophy.
Austin PF, Homsy YL, Gearhart JP, Porter K, Guidi C, Madsen K, Maizels M
J Urol 1998 Sep;160(3 Pt 2):1179-81. doi: 10.1097/00005392-199809020-00061. PMID: 9719304
Urolithiasis in the exstrophy-epispadias complex.
Silver RI, Gros DA, Jeffs RD, Gearhart JP
J Urol 1997 Sep;158(3 Pt 2):1322-6. doi: 10.1097/00005392-199709000-00175. PMID: 9258206

Diagnosis

Bladder exstrophy.
Uludag S, Guralp O, Akbas M, Aydin Y, Sen C, Uludag S
Fetal Pediatr Pathol 2012 Aug;31(4):225-9. Epub 2012 Mar 20 doi: 10.3109/15513815.2011.650286. PMID: 22432588
Cloacal exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research.
Feldkamp ML, Botto LD, Amar E, Bakker MK, Bermejo-Sánchez E, Bianca S, Canfield MA, Castilla EE, Clementi M, Csaky-Szunyogh M, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Merlob P, Morgan M, Mutchinick OM, Rissmann A, Ritvanen A, Siffel C, Carey JC
Am J Med Genet C Semin Med Genet 2011 Nov 15;157C(4):333-43. Epub 2011 Oct 14 doi: 10.1002/ajmg.c.30317. PMID: 22002951
Spectrum of cloacal exstrophy.
Phillips TM
Semin Pediatr Surg 2011 May;20(2):113-8. doi: 10.1053/j.sempedsurg.2010.12.007. PMID: 21453856
Cloacal exstrophy.
Hyun SJ
Neonatal Netw 2006 Mar-Apr;25(2):101-15. doi: 10.1891/0730-0832.25.2.101. PMID: 16610483
The prenatal diagnosis of cloacal exstrophy.
Austin PF, Homsy YL, Gearhart JP, Porter K, Guidi C, Madsen K, Maizels M
J Urol 1998 Sep;160(3 Pt 2):1179-81. doi: 10.1097/00005392-199809020-00061. PMID: 9719304

Therapy

Prevalence of opioid and benzodiazepine use in adult patients with the exstrophy-epispadias complex.
Haney NM, Li O, Agrawal P, Kohn TP, Crigger C, Sholklapper T, DiCarlo H, Gearhart JP
J Pediatr Urol 2023 Oct;19(5):562.e1-562.e8. Epub 2023 Apr 5 doi: 10.1016/j.jpurol.2023.03.031. PMID: 37120367
Orthopedic complications after osteotomy in patients with classic bladder exstrophy and cloacal exstrophy: a comparative study.
Sholklapper TN, Crigger C, Haney N, Khandge P, Wu W, Sponseller PD, Gearhart JP
J Pediatr Urol 2022 Oct;18(5):586.e1-586.e8. Epub 2022 Sep 15 doi: 10.1016/j.jpurol.2022.09.005. PMID: 36216696
3-Dimensional Magnetic Resonance Imaging Guided Pelvic Floor Dissection for Bladder Exstrophy: A Single Arm Trial.
Di Carlo HN, Maruf M, Massanyi EZ, Shah B, Tekes A, Gearhart JP
J Urol 2019 Aug;202(2):406-412. Epub 2019 Jul 8 doi: 10.1097/JU.0000000000000210. PMID: 30840542
Cystectomy in the Pediatric Exstrophy Population: Indications and Outcomes.
Ko JS, Lue K, Friedlander D, Baumgartner T, Stuhldreher P, DiCarlo HN, Gearhart JP
Urology 2018 Jun;116:168-171. Epub 2017 Sep 25 doi: 10.1016/j.urology.2017.09.009. PMID: 28958802
Bladder stones after bladder augmentation are not what they seem.
Szymanski KM, Misseri R, Whittam B, Lingeman JE, Amstutz S, Ring JD, Kaefer M, Rink RC, Cain MP
J Pediatr Urol 2016 Apr;12(2):98.e1-6. Epub 2015 Sep 25 doi: 10.1016/j.jpurol.2015.06.021. PMID: 26455637

Prognosis

Abdominal wall defects.
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
Fetal abdominal wall defects.
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
Cloacal exstrophy: morbidity associated with abnormalities of the gastrointestinal tract and spine.
McHoney M, Ransley PG, Duffy P, Wilcox DT, Spitz L
J Pediatr Surg 2004 Aug;39(8):1209-13. doi: 10.1016/j.jpedsurg.2004.04.019. PMID: 15300529
Hypospadias and bladder exstrophy.
Stein R, Thüroff JW
Curr Opin Urol 2002 May;12(3):195-200. doi: 10.1097/00042307-200205000-00003. PMID: 11953673
Urolithiasis in the exstrophy-epispadias complex.
Silver RI, Gros DA, Jeffs RD, Gearhart JP
J Urol 1997 Sep;158(3 Pt 2):1322-6. doi: 10.1097/00005392-199709000-00175. PMID: 9258206

Clinical prediction guides

Clinical and risk factor analysis of cloacal defects in the National Birth Defects Prevention Study.
Keppler-Noreuil KM, Conway KM, Shen D, Rhoads AJ, Carey JC, Romitti PA; National Birth Defects Prevention Study
Am J Med Genet A 2017 Nov;173(11):2873-2885. Epub 2017 Sep 28 doi: 10.1002/ajmg.a.38469. PMID: 28960693Free PMC Article
Fetal abdominal wall defects.
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
Prenatal ultrasound and urological anomalies.
Clayton DB, Brock JW 3rd
Pediatr Clin North Am 2012 Aug;59(4):739-56. Epub 2012 Jun 22 doi: 10.1016/j.pcl.2012.05.003. PMID: 22857826
Spinal ultrasound in cloacal exstrophy.
Dick EA, de Bruyn R, Patel K, Owens CM
Clin Radiol 2001 Apr;56(4):289-94. doi: 10.1053/crad.2000.0648. PMID: 11286580
The prenatal diagnosis of cloacal exstrophy.
Austin PF, Homsy YL, Gearhart JP, Porter K, Guidi C, Madsen K, Maizels M
J Urol 1998 Sep;160(3 Pt 2):1179-81. doi: 10.1097/00005392-199809020-00061. PMID: 9719304

Recent systematic reviews

Long-term active problems in patients with cloacal exstrophy: A systematic review.
Musleh L, Privitera L, Paraboschi I, Polymeropoulos A, Mushtaq I, Giuliani S
J Pediatr Surg 2022 Mar;57(3):339-347. Epub 2021 Sep 4 doi: 10.1016/j.jpedsurg.2021.08.020. PMID: 34563362
Commentary on long-term active problems in patients with cloacal exstrophy: A systematic review.
Haney NM, Gearhart JP
J Pediatr Surg 2022 Mar;57(3):348-349. Epub 2021 Sep 16 doi: 10.1016/j.jpedsurg.2021.09.004. PMID: 34563356
Substitution Phalloplasty in Patients With Bladder Exstrophy-Epispadias Complex: A Systematic Review of Techniques, Complications and Outcomes.
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

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