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Abdominal situs ambiguus

MedGen UID:
1622585
Concept ID:
C4531036
Anatomical Abnormality
HPO: HP:0031565

Definition

An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbdominal situs ambiguus

Conditions with this feature

Right atrial isomerism
MedGen UID:
465274
Concept ID:
C3178806
Congenital Abnormality
Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest.
Heterotaxy, visceral, 5, autosomal
MedGen UID:
501198
Concept ID:
C3495537
Congenital Abnormality
Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).
Primary ciliary dyskinesia 18
MedGen UID:
762331
Concept ID:
C3543825
Disease or Syndrome
Primary ciliary dyskinesia-18 (CILD18) is an autosomal recessive disorder characterized by early infantile onset of recurrent sinopulmonary infections due to ciliary dysfunction and impaired airway clearance. Males are infertile and about half of patients have situs inversus. Electron microscopy of cilia shows a defect of the outer and inner dynein arms and impaired ciliary function (summary by Horani et al., 2012).
Primary ciliary dyskinesia 35
MedGen UID:
934688
Concept ID:
C4310721
Disease or Syndrome
Primary ciliary dyskinesia-35 (CILD35) is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary function. Examination of respiratory cilia shows lack of outer dynein arms (ODAs) and immotile cilia. Some patients may have laterality defects (summary by Wallmeier et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Heterotaxy, visceral, 12, autosomal
MedGen UID:
1803695
Concept ID:
C5676898
Congenital Abnormality
Visceral heterotaxy-12 (HTX12) is an embryonic developmental disorder characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects. The phenotype is highly variable, ranging from complete organ reversal (situs inversus totalis) to selective misarrangement of organs (situs ambiguus) such as the liver, spleen, and pancreas. The disorder is often associated with dextrocardia or variable complex congenital heart defects. Early death may occur in the most severe cases (summary by Szenker-Ravi et al., 2022). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).

Professional guidelines

PubMed

Svetanoff WJ, Srivatsa S, Diefenbach K, Nwomeh BC
Semin Pediatr Surg 2022 Feb;31(1):151141. Epub 2022 Feb 18 doi: 10.1016/j.sempedsurg.2022.151141. PMID: 35305800
Soofi M, Alpert MA, Barbadora J, Mukerji B, Mukerji V
Am J Med Sci 2021 Sep;362(3):233-242. Epub 2021 May 28 doi: 10.1016/j.amjms.2021.05.020. PMID: 34052215
Blask AR, Fagen KE, Rubio EI, Badillo AT, Bulas DI
Pediatr Radiol 2021 Jul;51(8):1332-1338. Epub 2021 Feb 20 doi: 10.1007/s00247-021-04969-1. PMID: 33608743

Recent clinical studies

Etiology

Saba TG, Geddes GC, Ware SM, Schidlow DN, Del Nido PJ, Rubalcava NS, Gadepalli SK, Stillwell T, Griffiths A, Bennett Murphy LM, Barber AT, Leigh MW, Sabin N, Shapiro AJ
Orphanet J Rare Dis 2022 Sep 9;17(1):351. doi: 10.1186/s13023-022-02515-2. PMID: 36085154Free PMC Article
Svetanoff WJ, Srivatsa S, Diefenbach K, Nwomeh BC
Semin Pediatr Surg 2022 Feb;31(1):151141. Epub 2022 Feb 18 doi: 10.1016/j.sempedsurg.2022.151141. PMID: 35305800
Soofi M, Alpert MA, Barbadora J, Mukerji B, Mukerji V
Am J Med Sci 2021 Sep;362(3):233-242. Epub 2021 May 28 doi: 10.1016/j.amjms.2021.05.020. PMID: 34052215
Pelayo JC, Lo A
Pediatr Ann 2016 Jul 1;45(7):e247-50. doi: 10.3928/00904481-20160602-01. PMID: 27403672
Mishra S
Indian J Pediatr 2015 Dec;82(12):1135-46. Epub 2015 Nov 26 doi: 10.1007/s12098-015-1925-x. PMID: 26612104

Diagnosis

Svetanoff WJ, Srivatsa S, Diefenbach K, Nwomeh BC
Semin Pediatr Surg 2022 Feb;31(1):151141. Epub 2022 Feb 18 doi: 10.1016/j.sempedsurg.2022.151141. PMID: 35305800
Soofi M, Alpert MA, Barbadora J, Mukerji B, Mukerji V
Am J Med Sci 2021 Sep;362(3):233-242. Epub 2021 May 28 doi: 10.1016/j.amjms.2021.05.020. PMID: 34052215
Masiwal P, Chenthil KS, Priyadarsini B, Gnanaprakasam J, Srihari I
J Assoc Physicians India 2016 May;64(5):73-75. PMID: 27735157
Pelayo JC, Lo A
Pediatr Ann 2016 Jul 1;45(7):e247-50. doi: 10.3928/00904481-20160602-01. PMID: 27403672
Perloff JK
Am J Cardiol 2011 Nov 1;108(9):1352-61. Epub 2011 Aug 20 doi: 10.1016/j.amjcard.2011.06.055. PMID: 21861958

Therapy

Olson AJ, Krentz AD, Finta KM, Okorie UC, Haws RM
J Pediatr 2019 Jan;204:31-37. Epub 2018 Oct 4 doi: 10.1016/j.jpeds.2018.08.068. PMID: 30293640
Ryerson LM, Pharis S, Pockett C, Soni R, Fruitman D, Guleserian KJ, Nater M, Raynor SC, Mackie AS, Dicken B
Pediatrics 2018 Aug;142(2) doi: 10.1542/peds.2017-4267. PMID: 30049892
Tan YW, Khalil A, Kakade M, Carvalho JS, Bradley S, Cleeve S, Giuliani S
J Pediatr 2016 Apr;171:153-62.e1-3. Epub 2016 Feb 8 doi: 10.1016/j.jpeds.2015.12.074. PMID: 26868865
McElhinney DB, Marx GR, Newburger JW
Congenit Heart Dis 2011 Jan-Feb;6(1):28-40. doi: 10.1111/j.1747-0803.2010.00478.x. PMID: 21269410
Sutherland MJ, Ware SM
Am J Med Genet C Semin Med Genet 2009 Nov 15;151C(4):307-17. doi: 10.1002/ajmg.c.30228. PMID: 19876930

Prognosis

Soofi M, Alpert MA, Barbadora J, Mukerji B, Mukerji V
Am J Med Sci 2021 Sep;362(3):233-242. Epub 2021 May 28 doi: 10.1016/j.amjms.2021.05.020. PMID: 34052215
Loomba RS, Geddes GC, Basel D, Benson DW, Leuthner SR, Hehir DA, Ghanayem N, Shillingford AJ
Congenit Heart Dis 2016 Dec;11(6):537-547. Epub 2016 Jul 18 doi: 10.1111/chd.12395. PMID: 27425254
Mishra S
Indian J Pediatr 2015 Dec;82(12):1135-46. Epub 2015 Nov 26 doi: 10.1007/s12098-015-1925-x. PMID: 26612104
Wolla CD, Hlavacek AM, Schoepf UJ, Bucher AM, Chowdhury S
J Cardiovasc Comput Tomogr 2013 Nov-Dec;7(6):408-16. Epub 2013 Nov 7 doi: 10.1016/j.jcct.2013.11.008. PMID: 24331937Free PMC Article
Winer-Muram HT
J Thorac Imaging 1995 Winter;10(1):43-57. doi: 10.1097/00005382-199501010-00004. PMID: 7891396

Clinical prediction guides

Spicer DE, Chowdhury UK, Anderson RH, Pandey NN, Sankhyan LK, George N, Goja S, Malik V
Eur J Cardiothorac Surg 2022 Jun 15;62(1) doi: 10.1093/ejcts/ezac139. PMID: 35234855
Olson AJ, Krentz AD, Finta KM, Okorie UC, Haws RM
J Pediatr 2019 Jan;204:31-37. Epub 2018 Oct 4 doi: 10.1016/j.jpeds.2018.08.068. PMID: 30293640
Ryerson LM, Pharis S, Pockett C, Soni R, Fruitman D, Guleserian KJ, Nater M, Raynor SC, Mackie AS, Dicken B
Pediatrics 2018 Aug;142(2) doi: 10.1542/peds.2017-4267. PMID: 30049892
Baban A, Cantarutti N, Adorisio R, Lombardi R, Calcagni G, Piano Mortari E, Dallapiccola B, Marino B, Iorio FS, Carsetti R, Digilio MC, Giannico S, Drago F, Carotti A
Int J Cardiol 2018 Oct 1;268:100-105. doi: 10.1016/j.ijcard.2018.02.050. PMID: 30041775
Loomba RS, Willes RJ, Kovach JR, Anderson RH
Congenit Heart Dis 2016 Jan-Feb;11(1):7-18. Epub 2015 Jul 29 doi: 10.1111/chd.12288. PMID: 26219620

Recent systematic reviews

Loomba RS, Geddes GC, Basel D, Benson DW, Leuthner SR, Hehir DA, Ghanayem N, Shillingford AJ
Congenit Heart Dis 2016 Dec;11(6):537-547. Epub 2016 Jul 18 doi: 10.1111/chd.12395. PMID: 27425254
Tan YW, Khalil A, Kakade M, Carvalho JS, Bradley S, Cleeve S, Giuliani S
J Pediatr 2016 Apr;171:153-62.e1-3. Epub 2016 Feb 8 doi: 10.1016/j.jpeds.2015.12.074. PMID: 26868865
Cullis PS, Siminas S, Losty PD
Ann Surg 2016 Dec;264(6):1156-1161. doi: 10.1097/SLA.0000000000001563. PMID: 26704743
Loomba RS, Willes RJ, Kovach JR, Anderson RH
Congenit Heart Dis 2016 Jan-Feb;11(1):7-18. Epub 2015 Jul 29 doi: 10.1111/chd.12288. PMID: 26219620
Graziano K, Islam S, Dasgupta R, Lopez ME, Austin M, Chen LE, Goldin A, Downard CD, Renaud E, Abdullah F
J Pediatr Surg 2015 Oct;50(10):1783-90. Epub 2015 Jun 30 doi: 10.1016/j.jpedsurg.2015.06.019. PMID: 26205079

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