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Heterotaxy

MedGen UID:
75620
Concept ID:
C0266642
Congenital Abnormality
Synonyms: Laterality sequence; Situs ambiguus
SNOMED CT: Situs ambiguus (14821001); Heterotaxy (14821001); Heterotaxis (14821001); Heterotaxia (14821001); Isomerism sequence (24614000); Laterality sequence (24614000)
 
HPO: HP:0030853
Orphanet: ORPHA157769

Definition

An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. [from HPO]

Conditions with this feature

Laterality defects, autosomal dominant
MedGen UID:
322042
Concept ID:
C1832813
Disease or Syndrome
Primary ciliary dyskinesia 14
MedGen UID:
462486
Concept ID:
C3151136
Disease or Syndrome
Primary ciliary dyskinesia-14 (CILD14) is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization (Merveille et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Heterotaxy, visceral, 7, autosomal
MedGen UID:
902629
Concept ID:
C4225217
Disease or Syndrome
Autosomal visceral heterotaxy-7 is an autosomal recessive developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs. The phenotype is variable (summary by Guimier et al., 2015). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).
Ciliary dyskinesia, primary, 44
MedGen UID:
1716408
Concept ID:
C5394063
Disease or Syndrome
Primary ciliary dyskinesia-44 (CILD44) is an autosomal recessive disorder characterized by recurrent sinopulmonary infections resulting from defective mucociliary clearance. Affected individuals have onset of symptoms in infancy or early childhood, and the repetitive nature of the disorder results in bronchiectasis. Although respiratory epithelial cell motile cilia are shorter than normal and overall ciliary motion is decreased, nasal nitric oxide, radial ciliary structure, and ciliary beat frequency are normal. In addition, patients do not have situs inversus (summary by Chivukula et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Diets-Jongmans syndrome
MedGen UID:
1714920
Concept ID:
C5394263
Disease or Syndrome
Diets-Jongmans syndrome (DIJOS) is an autosomal dominant disorder characterized by mild to moderately impaired intellectual development with a recognizable facial gestalt (summary by Diets et al., 2019).

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
Akalın M, Demirci O, Kumru P, Yücel İK
Prenat Diagn 2022 Apr;42(4):435-446. Epub 2022 Feb 4 doi: 10.1002/pd.6110. PMID: 35102577
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

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
Wallmeier J, Nielsen KG, Kuehni CE, Lucas JS, Leigh MW, Zariwala MA, Omran H
Nat Rev Dis Primers 2020 Sep 17;6(1):77. doi: 10.1038/s41572-020-0209-6. PMID: 32943623
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
Hines MH
Semin Pediatr Surg 2013 Nov;22(4):174-8. Epub 2013 Oct 14 doi: 10.1053/j.sempedsurg.2013.10.004. PMID: 24331090

Diagnosis

Akalın M, Demirci O, Kumru P, Yücel İK
Prenat Diagn 2022 Apr;42(4):435-446. Epub 2022 Feb 4 doi: 10.1002/pd.6110. PMID: 35102577
Wallmeier J, Nielsen KG, Kuehni CE, Lucas JS, Leigh MW, Zariwala MA, Omran H
Nat Rev Dis Primers 2020 Sep 17;6(1):77. doi: 10.1038/s41572-020-0209-6. PMID: 32943623
Knowles MR, Zariwala M, Leigh M
Clin Chest Med 2016 Sep;37(3):449-61. Epub 2016 Jun 30 doi: 10.1016/j.ccm.2016.04.008. PMID: 27514592Free PMC Article
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

Therapy

Padua MB, Helm BM, Wells JR, Smith AM, Bellchambers HM, Sridhar A, Ware SM
Hum Mol Genet 2023 Jul 4;32(14):2335-2346. doi: 10.1093/hmg/ddad065. PMID: 37158461Free PMC Article
Duong SQ, Zaniletti I, Lopez L, Sutherland SM, Shin AY, Collins RT 2nd
Pediatr Cardiol 2022 Jun;43(5):952-959. Epub 2022 Jan 22 doi: 10.1007/s00246-021-02804-w. PMID: 35064275
Gabriel GC, Lo CW
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):90-96. Epub 2020 Jan 30 doi: 10.1002/ajmg.c.31768. PMID: 31999049Free PMC Article
Knowles MR, Zariwala M, Leigh M
Clin Chest Med 2016 Sep;37(3):449-61. Epub 2016 Jun 30 doi: 10.1016/j.ccm.2016.04.008. PMID: 27514592Free PMC Article
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

Prognosis

Akalın M, Demirci O, Kumru P, Yücel İK
Prenat Diagn 2022 Apr;42(4):435-446. Epub 2022 Feb 4 doi: 10.1002/pd.6110. PMID: 35102577
Buca DIP, Khalil A, Rizzo G, Familiari A, Di Giovanni S, Liberati M, Murgano D, Ricciardulli A, Fanfani F, Scambia G, D'Antonio F
Ultrasound Obstet Gynecol 2018 Mar;51(3):323-330. doi: 10.1002/uog.17546. PMID: 28603940
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
Mishra S
Indian J Pediatr 2015 Dec;82(12):1135-46. Epub 2015 Nov 26 doi: 10.1007/s12098-015-1925-x. PMID: 26612104
Shiraishi I, Ichikawa H
Circ J 2012;76(9):2066-75. Epub 2012 Aug 3 doi: 10.1253/circj.cj-12-0957. PMID: 22864291

Clinical prediction guides

Wang CC, Wu MH, Wu ET, Lu F, Chen SJ
Pediatr Pulmonol 2022 Sep;57(9):2074-2081. Epub 2022 Jun 2 doi: 10.1002/ppul.25981. PMID: 35582940
Gabriel GC, Lo CW
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):90-96. Epub 2020 Jan 30 doi: 10.1002/ajmg.c.31768. PMID: 31999049Free PMC Article
Liu S, Chen W, Zhan Y, Li S, Ma X, Ma D, Sheng W, Huang G
Sci Rep 2019 Apr 30;9(1):6683. doi: 10.1038/s41598-019-43109-6. PMID: 31040315Free PMC Article
Buca DIP, Khalil A, Rizzo G, Familiari A, Di Giovanni S, Liberati M, Murgano D, Ricciardulli A, Fanfani F, Scambia G, D'Antonio F
Ultrasound Obstet Gynecol 2018 Mar;51(3):323-330. doi: 10.1002/uog.17546. PMID: 28603940
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

Buca DIP, Khalil A, Rizzo G, Familiari A, Di Giovanni S, Liberati M, Murgano D, Ricciardulli A, Fanfani F, Scambia G, D'Antonio F
Ultrasound Obstet Gynecol 2018 Mar;51(3):323-330. doi: 10.1002/uog.17546. PMID: 28603940
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
Oldfield BJ, Stewart RW
South Med J 2016 Jan;109(1):38-41. doi: 10.14423/SMJ.0000000000000399. PMID: 26741872
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

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