Situs inversus totalis

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Situs inversus totalis

ORPHA:101063Morphological anomaly

Also called Complete situs inversus · Complete situs inversus viscerum · Situs inversus

What it is

A rare developmental defect during embryogenesis characterized by complete mirror-imaged arrangement of the internal organs across the left-right axis of the body. Primary ciliary dyskinesia, Kartagener type, is frequently associated. Congenital heart disease are present in 43% of cases, which is less frequent than in patients with heterotaxy. Similarly, extracardiac and vascular anomalies can be associated (e.g. intestinal malrotation, spleen anomalies, absence of retrohepatic inferior vena cava, bilateral superior vena cava), but less frequently that in heterotaxy.

Key facts

Prevalence
1-9 / 100 000
Age of onset
Antenatal, Childhood, Infancy, Neonatal
Inheritance
Autosomal dominant, Autosomal recessive, X-linked dominant, X-linked recessive
Classified as
Morphological anomaly

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Genes

ANKS3Disease-causing germline mutation(s)
CFAP52Disease-causing germline mutation(s)
CFAP53Disease-causing germline mutation(s)
CIROPDisease-causing germline mutation(s)
CITED2Major susceptibility factor
DNAH9Disease-causing germline mutation(s) (loss of function)
MMP21Disease-causing germline mutation(s) (loss of function)
NME7Disease-causing germline mutation(s)
NODALDisease-causing germline mutation(s)
PKD1L1Disease-causing germline mutation(s)

ICD-10 codes

Q89.3filed under a broader ICD-10 category — shared with 1 other rare disease

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Cross-references

GARD 4883MONDO 0010029MONDO 10029OMIM 619607OMIM 619608UMLS C0037221

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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