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Disease definition

Heterotaxia (coming from the Greek 'heteros' meaning different and 'taxis' meaning arrangement) is the right/left transposition of thoracic and/or abdominal organs. It encompasses a wide variety of disorders since there are multiple possibilities of right/left reversals, which may be complete (situs inversus totalis or situs inversus i.e. all the organs normally found on the right are on the left and vice versa) or partial (incomplete situs inversus i.e. a limited number of organs are inversed - or situs inversus ambiguous i.e. a normally lateral organ is centrally located).


Classification level: Group of disorders
  • Synonym(s):
    • Heterotaxy syndrome
    • Lateralization defect
    • Visceral heterotaxy
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q89.3
  • OMIM: 270100  306955  601086  605376  606325  613751  614779  616749  617205  618948  619702
  • UMLS: C3178805
  • MeSH: D059446
  • GARD: 10875
  • MedDRA: 10067265

Detailed information

General public

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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