Rotor syndrome

What is Rotor Syndrome?

Rotor Syndrome is a rare, benign inherited disorder characterized by chronic, mild jaundice. The main cause is impaired transport of bilirubin from liver cells into bile, which leads to an accumulation of both unconjugated and conjugated bilirubin in the blood.

Unlike most liver diseases, Rotor Syndrome does not cause fibrosis or cirrhosis and does not affect life expectancy. It is often confused with Dubin–Johnson Syndrome, but in Rotor Syndrome the liver does not show dark pigmentation.

Frequently Asked Questions

1. What are the signs of Rotor Syndrome?
  • Mild to moderate jaundice, which may be constant or intermittent
  • Dark urine
  • Absence of skin itching (which distinguishes it from cholestatic conditions)
  • Overall health is usually unaffected; children grow and develop normally

Yes. Rotor Syndrome is inherited in an autosomal recessive manner. For the disease to manifest, the child must receive defective genes from both parents.

No specific treatment is needed. The disease has a benign course and does not cause complications. Recommendations focus on monitoring and avoiding factors that may worsen jaundice (such as stress, infections, fasting).

It is an entirely benign condition that does not threaten life. Patients live just as long as people without this syndrome. The only possible drawback is the cosmetic effect of jaundice.

  • Clinical examination (jaundice with otherwise normal health)

  • Blood biochemistry (moderate increase in total bilirubin)

  • Liver enzymes (ALT, AST, ALP, GGT) are usually normal

  • Exclusion of other causes of jaundice (hepatitis, hemolysis, other syndromes)

Genetic testing may be used for precise confirmation.

In Rotor Syndrome, the issue is limited to liver function at the level of bilirubin transport. Other organs are not affected.

No cure is needed, as the disease does not progress and does not harm the body.

Recommendations for Parents

  • Don’t worry: Rotor Syndrome is not dangerous for your child.

  • Avoid situations that may worsen jaundice (fasting, stress, certain medications).

  • Have regular checkups with a pediatrician or gastroenterologist to monitor liver function.

  • There are no restrictions on physical activity or life expectancy.