What is Mulibrey nanism?

The term “Mulibrey is made up of the words muscle, liver, brain, and eye. Mulibrey nanism (MUL) is a rare genetic disease characterized by short stature and other malformations. What is particularly serious is the tightness of the pericardium. There is an increased risk of Wilms tumors (a kidney tumor that usually occurs in childhood) and other tumors.

How is Mulibrey nanism diagnosed?

The diagnosis is made clinically by experts who are experienced with syndromes. Evidence of a mutation – or genetic change – in the TRIM37 gene, confirms the diagnosis.

What is the risk of cancer?

Various benign and malignant tumors are described in people with MUL: cysts in various organs, benign tumors of the adrenal glands, thyroid, and parathyroid, pancreas, kidneys, and ovaries. Malignant tumors include the Wilms tumor (also called a nephroblastoma, a kidney tumor that mainly occurs in children), renal cell carcinoma, and tumors of the thyroid, ovaries, and uterus.

MUL is so rare that information about the precise risk of cancer is unreliable.

What causes Mulibrey nanism?

MUL is caused by a mutation – or genetic change – in the TRIM37 gene. This gene controls significant biological processes that are also important during mental and physical development. Two mutations are necessary (recessive disease).

Is there a treatment?

Medical care for children requires an expert, multi-professional team to work together closely with the affected family.

Surveillance Recommendations for the Early Detection of Cancer

Surveillance Recommendations

It is a good idea to have the kidneys examined using ultrasound every three months until the age of 7. In adults, the thyroid, kidneys, ovaries, and uterus should be screened (by means of ultrasound for example).

Self-Care and Support

What should I pay special attention to?

It is also helpful to talk with others who are affected. Any new symptom that occurs should be evaluated by the treatment team.

Support Groups and Additional Information