FaCD Online Syndrome Fact Sheet

Last updated: 17 Nov 2008

Name: Situs Inversus

Synonym: incl. Situs Ambiguus, Heterotaxia

Mode of Inheritance: AR/AD/XL/spor

Tumor features (possible)

biliary tract cancer (incl. gallbladder)
breast cancer
cervical cancer
colorectal cancer
duodenal cancer
endometrial cancer
esophagus, adenocarcinoma of the
esophagus, squamous cell cancer of the
gastric tumor
hepatocellular cancer (hepatoma)
leukemia, chronic lymphocytic (CLL)
lung/bronchial cancer
lymphoma, malignant (Non-Hodgkin and/or Hodgkin)
meningioma
ovarian teratoma
pancreatic adenocarcinoma
renal cell cancer
skin cancer, basal cell
thyroid cancer, follicular
urinary bladder cancer

Non-tumor features

situs inversus / situs ambiguus

Comment

Situs inversus is a rare disorder, characterized by left-right inversion of the internal organs. Situs ambiguus is the variant with inversion of a subset of organs. Rather than simple inversion, bilateral right-sidedness with asplenia, typically found in affected males or bilateral left-sidedness with polysplenia, typically found in affected females, can be observed. It can be part of a larger syndrome, e.g. Kartagener syndrome (one of the ciliary dyskinesia disorders) and Ivemark syndrome (OMIM 208350, see link above). It is a genetically heterogeneous group and genes are not listed separately here (check OMIM links).

Galiatsatos et al[1] reviewed the occurrence of cancer, single or multiple primary, in patients with situs inversus or situs ambiguus and suggest that some of the genetic defects involved in this congenital disorder may also predispose to cancer.

References

[1] Galiatsatos P, Kasprzak L, Chong G, Jass JR, Foulkes WD. Multiple primary malignancies in a patient with situs ambiguus. Clinical genetics 2006; 69(6):528-31.