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Persistent cloaca

MedGen UID:
472998
Concept ID:
C0266225
Congenital Abnormality; Embryonic Structure
Synonyms: Anal and urogenital canal fusion; Anal fusion; Cloacogenic bladder; Persistent Cloaca
SNOMED CT: Persistent cloaca (74829002); Anal fusion (74829002); Anal and urogenital canal fusion (74829002)
 
HPO: HP:0012621

Definition

Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPersistent cloaca

Conditions with this feature

Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
MedGen UID:
816673
Concept ID:
C3810343
Disease or Syndrome
Sacral agenesis with vertebral anomalies (SAVA) is an autosomal recessive syndrome comprising sacral agenesis, abnormal ossification of the vertebral bodies, and a persistent notochordal canal spanning the complete vertebral column (Postma et al., 2014).

Professional guidelines

PubMed

Yamamichi T, Sakai T, Yoshida M, Takayama K, Uga N, Umeda S, Maekawa S, Usui N
Pediatr Surg Int 2022 Nov;38(11):1577-1583. Epub 2022 Sep 2 doi: 10.1007/s00383-022-05204-0. PMID: 36053329
Peiro JL, Scorletti F, Sbragia L
Semin Pediatr Surg 2016 Apr;25(2):71-5. Epub 2015 Nov 10 doi: 10.1053/j.sempedsurg.2015.11.004. PMID: 26969229
Livingston JC, Elicevik M, Breech L, Crombleholme TM, Peña A, Levitt MA
J Ultrasound Med 2012 Mar;31(3):403-7. doi: 10.7863/jum.2012.31.3.403. PMID: 22368130

Recent clinical studies

Etiology

Yamamichi T, Sakai T, Yoshida M, Takayama K, Uga N, Umeda S, Maekawa S, Usui N
Pediatr Surg Int 2022 Nov;38(11):1577-1583. Epub 2022 Sep 2 doi: 10.1007/s00383-022-05204-0. PMID: 36053329
Pathak M, Saxena AK
J Pediatr Urol 2022 Apr;18(2):142-149. Epub 2022 Jan 19 doi: 10.1016/j.jpurol.2021.12.014. PMID: 35101384
Caldwell BT, Wilcox DT
Semin Pediatr Surg 2016 Apr;25(2):108-11. Epub 2015 Nov 10 doi: 10.1053/j.sempedsurg.2015.11.010. PMID: 26969235
VanderBrink BA, Reddy PP
Semin Pediatr Surg 2016 Apr;25(2):82-9. Epub 2015 Nov 10 doi: 10.1053/j.sempedsurg.2015.11.005. PMID: 26969231
Wang C, Li L, Cheng W, Liu S, Diao M, Li X, Qiao G, Zhang Z, Chen Z
J Pediatr Surg 2015 Jul;50(7):1236-40. Epub 2015 May 10 doi: 10.1016/j.jpedsurg.2015.04.016. PMID: 25981991

Diagnosis

Nayak SS, Harkness R, Shukla A, Banka S, Newman WG, Girisha KM
Am J Med Genet A 2023 Mar;191(3):730-741. Epub 2022 Dec 7 doi: 10.1002/ajmg.a.63067. PMID: 36478354Free PMC Article
Yamamichi T, Sakai T, Yoshida M, Takayama K, Uga N, Umeda S, Maekawa S, Usui N
Pediatr Surg Int 2022 Nov;38(11):1577-1583. Epub 2022 Sep 2 doi: 10.1007/s00383-022-05204-0. PMID: 36053329
VanderBrink BA, Reddy PP
Semin Pediatr Surg 2016 Apr;25(2):82-9. Epub 2015 Nov 10 doi: 10.1053/j.sempedsurg.2015.11.005. PMID: 26969231
Peiro JL, Scorletti F, Sbragia L
Semin Pediatr Surg 2016 Apr;25(2):71-5. Epub 2015 Nov 10 doi: 10.1053/j.sempedsurg.2015.11.004. PMID: 26969229
Warne SA, Hiorns MP, Curry J, Mushtaq I
Arch Dis Child 2011 Nov;96(11):1072-6. Epub 2011 Jan 23 doi: 10.1136/adc.2009.175034. PMID: 21262748

Therapy

Okada S, Miyazono A, Inaba Y, Eura R, Itesako T, Kawano Y, Okamoto Y
CEN Case Rep 2022 Aug;11(3):363-365. Epub 2022 Jan 31 doi: 10.1007/s13730-022-00686-2. PMID: 35099756Free PMC Article
Wang C, Li L, Diao M, Liu S, Zhang J, Chen Z, Li X, Cheng W
J Laparoendosc Adv Surg Tech A 2016 Apr;26(4):328-33. Epub 2016 Jan 28 doi: 10.1089/lap.2015.0296. PMID: 27096816
Zalimas A, Posiunas G, Strupas S, Raugalas R, Raistenskis J, Verkauskas G
BMC Pediatr 2015 Oct 8;15:150. doi: 10.1186/s12887-015-0469-6. PMID: 26450698Free PMC Article
Song SH, Kim A, Lim B, Park S, Kim KS
J Pediatr Urol 2014 Apr;10(2):336-43. Epub 2013 Oct 23 doi: 10.1016/j.jpurol.2013.09.025. PMID: 24456819
Peña A, Grasshoff S, Levitt M
J Pediatr Surg 2007 Feb;42(2):318-25. doi: 10.1016/j.jpedsurg.2006.10.034. PMID: 17270542

Prognosis

Macedo A, Ottoni SL, Jordan Balladares R, Correa R, Garrone G, Leal da Cruz M
J Pediatr Urol 2023 Aug;19(4):485-486. Epub 2023 Mar 31 doi: 10.1016/j.jpurol.2023.03.036. PMID: 37120365
Takii M, Suehiro T, Shima A, Yotsueda H, Hisano S, Katafuchi R
BMC Nephrol 2017 Sep 6;18(1):288. doi: 10.1186/s12882-017-0704-5. PMID: 28877681Free PMC Article
Kubota M
Pediatr Surg Int 2017 Apr;33(4):505-512. Epub 2017 Jan 5 doi: 10.1007/s00383-016-4053-4. PMID: 28058485Free PMC Article
Warne SA, Hiorns MP, Curry J, Mushtaq I
Arch Dis Child 2011 Nov;96(11):1072-6. Epub 2011 Jan 23 doi: 10.1136/adc.2009.175034. PMID: 21262748
Peña A, Grasshoff S, Levitt M
J Pediatr Surg 2007 Feb;42(2):318-25. doi: 10.1016/j.jpedsurg.2006.10.034. PMID: 17270542

Clinical prediction guides

Yamamichi T, Sakai T, Yoshida M, Takayama K, Uga N, Umeda S, Maekawa S, Usui N
Pediatr Surg Int 2022 Nov;38(11):1577-1583. Epub 2022 Sep 2 doi: 10.1007/s00383-022-05204-0. PMID: 36053329
Pathak M, Saxena AK
J Pediatr Urol 2022 Apr;18(2):142-149. Epub 2022 Jan 19 doi: 10.1016/j.jpurol.2021.12.014. PMID: 35101384
Kawamura T, Kamo A, Nishiguchi T
Am J Case Rep 2020 May 8;21:e921576. doi: 10.12659/AJCR.921576. PMID: 32381998Free PMC Article
Kubota M
Pediatr Surg Int 2017 Apr;33(4):505-512. Epub 2017 Jan 5 doi: 10.1007/s00383-016-4053-4. PMID: 28058485Free PMC Article
Wang C, Li L, Cheng W, Liu S, Diao M, Li X, Qiao G, Zhang Z, Chen Z
J Pediatr Surg 2015 Jul;50(7):1236-40. Epub 2015 May 10 doi: 10.1016/j.jpedsurg.2015.04.016. PMID: 25981991

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