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Tuesday 11 November 2003

lateralization defects, anomalies of lateralization, situs anomalies, heterotaxies, heterotaxia, heterotaxy, laterality disorders, heterotaxies

Definition: Heterotaxia (MIM.606325) is a group of congenital disorders characterized by a misplacement of one or more organs according to the left-right axis. It occurs in 1/10000 newborns and is often accompanied by severe organ malformations.


- situs inversus (or situs inversus totalis)
- situs ambiguus
- isomerisms (cardiac isomerism, visceral isomerism)


- germline mutations

NB: Heterozygous mutations in genes account for less than 3% of sporadic heterotaxia

See also

- nodal signaling


- anomalies of cardiac situs

  • dextrocardia

- anomalies of pulmonary asymetry
- visceral heterotaxy (visceral situs inversus)

  • X-linked visceral heterotaxy
    • Locus HTX1 (ZIC3 mutations)
  • autosomal visceral heterotaxy
    • HTX2 on Ch.2: mutations of gene CFC1 encoding the CRYPTIC protein (MIM.605194)
    • HTX3 on 6q (MIM.606325)

- visceroatrial heterotaxy (Ivemark syndrome) (MIM.208530)


- syndromal heterotaxia

  • Kartagener syndrome

- non-syndromal heterotaxia

Case records

- Case #10300


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- El Zein L, Omran H, Bouvagnet P. Lateralization defects and ciliary dyskinesia: lessons from algae. Trends Genet. 2003 Mar;19(3):162-7. PMID: 12615011

- Aylsworth AS. Clinical aspects of defects in the determination of laterality. Am J Med Genet. 2001 Jul 15;101(4):345-55. PMID: 11471158