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Caudal duplication

MedGen UID:
335822
Concept ID:
C1842884
Disease or Syndrome
Synonym: Caudal duplication anomaly
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): AXIN1 (16p13.3)
 
Monarch Initiative: MONDO:0011928
OMIM®: 607864
Orphanet: ORPHA1756

Definition

Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents. [from ORDO]

Clinical features

From HPO
Ureteral duplication
MedGen UID:
66380
Concept ID:
C0221365
Congenital Abnormality
A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.
Uterus didelphys
MedGen UID:
82740
Concept ID:
C0266393
Congenital Abnormality
A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCaudal duplication

Professional guidelines

PubMed

Fang Z, Yuan C, Cheng L, Yao Q, Zhang C, Wang X, Guan J, Jian F
Pain Physician 2022 Mar;25(2):145-160. PMID: 35322968
Prechel U, Ottl P, Ahlers OM, Neff A
Dtsch Arztebl Int 2018 Feb 2;115(5):59-64. doi: 10.3238/arztebl.2018.0059. PMID: 29439762Free PMC Article

Recent clinical studies

Etiology

Radu-Iulian S, Adelaida A, Dan-Alexandru I, Monica I, Dragos S, Florentina TL, Cătălin C
Medicina (Kaunas) 2020 Nov 27;56(12) doi: 10.3390/medicina56120650. PMID: 33260808Free PMC Article
Pampal A, Ozbayoglu A, Kaya C, Pehlivan Y, Poyraz A, Ozen IO, Percin FE, Demirogullari B
Pediatr Int 2013 Aug;55(4):e86-9. doi: 10.1111/ped.12086. PMID: 23910814
Wisenbaugh ES, Palmer BW, Kropp BP
J Pediatr Urol 2010 Jun;6(3):315-7. Epub 2009 Oct 14 doi: 10.1016/j.jpurol.2009.09.004. PMID: 19833559
Siebert JR, Rutledge JC, Kapur RP
Pediatr Dev Pathol 2005 May-Jun;8(3):339-54. Epub 2005 Jul 14 doi: 10.1007/s10024-005-1157-6. PMID: 16010492
Ulman I, Avanoğlu A, Erdener A, Sahin AH, Gökdemir A
J Pediatr Surg 1996 Dec;31(12):1680-1. doi: 10.1016/s0022-3468(96)90047-0. PMID: 8986986

Diagnosis

Aggarwal P, Nair N
Trop Doct 2021 Apr;51(2):266-269. Epub 2020 Nov 23 doi: 10.1177/0049475520971597. PMID: 33226312
Mei JY, Nguyen MT, Raz S
Female Pelvic Med Reconstr Surg 2018 Jul/Aug;24(4):e16-e20. doi: 10.1097/SPV.0000000000000576. PMID: 29698366
Chaussy Y, Mottet N, Aubert D, Auber F
J Pediatr 2015 Mar;166(3):772-2.e1. Epub 2014 Dec 19 doi: 10.1016/j.jpeds.2014.11.035. PMID: 25529605
Taneja AK, Zaffani G, Amato-Filho AC, Queiroz Lde S, Zanardi Vde A, Menezes-Netto JR
Arq Neuropsiquiatr 2009 Sep;67(3A):695-6. doi: 10.1590/s0004-282x2009000400023. PMID: 19722052
Luks FI, De Paepe ME, DiLorenzo M, Mercier C, Desjardins JG
Eur J Pediatr Surg 1993 Jun;3(3):182-5. doi: 10.1055/s-2008-1063540. PMID: 8353123

Prognosis

Wang K, Yang L, Peng C, Pang W, Wang Z, Zhang D, Wu D, Chen Y
Pediatr Surg Int 2022 Sep;38(9):1283-1289. Epub 2022 Jul 3 doi: 10.1007/s00383-022-05159-2. PMID: 35780394
Radu-Iulian S, Adelaida A, Dan-Alexandru I, Monica I, Dragos S, Florentina TL, Cătălin C
Medicina (Kaunas) 2020 Nov 27;56(12) doi: 10.3390/medicina56120650. PMID: 33260808Free PMC Article
Meena S, Batra P
Indian Pediatr 2015 Dec;52(12):1099. PMID: 26713997
Pampal A, Ozbayoglu A, Kaya C, Pehlivan Y, Poyraz A, Ozen IO, Percin FE, Demirogullari B
Pediatr Int 2013 Aug;55(4):e86-9. doi: 10.1111/ped.12086. PMID: 23910814
Tourchi A, Kajbafzadeh AM, Khakpour M, Mohammadi Nejad P, Mousavian AA, Kalantary M
Int Urol Nephrol 2012 Feb;44(1):41-4. Epub 2011 May 6 doi: 10.1007/s11255-011-9981-2. PMID: 21547464

Clinical prediction guides

Siebert JR, Rutledge JC, Kapur RP
Pediatr Dev Pathol 2005 May-Jun;8(3):339-54. Epub 2005 Jul 14 doi: 10.1007/s10024-005-1157-6. PMID: 16010492

Recent systematic reviews

Radu-Iulian S, Adelaida A, Dan-Alexandru I, Monica I, Dragos S, Florentina TL, Cătălin C
Medicina (Kaunas) 2020 Nov 27;56(12) doi: 10.3390/medicina56120650. PMID: 33260808Free PMC Article

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