"Mulibrey Nanism" – What Is It?
The term “Mulibrey” consists of the words muscle, liver, brain, and eye. Mulibrey short stature (also known as Mulibrey Nanism, MUL) is a rare genetic disorder associated with short stature and other malformations. The pericardium narrows severely. There is an increased risk of Wilms’ tumors (a kidney tumor usually in childhood) and other tumors.
How Is "Mulibrey Nanism" Diagnosed?
The diagnosis is made clinically by an expert experienced in syndromes. The detection of a mutation, i.e., a genetic change in the TRIM37 gene, confirms the diagnosis.
What Is the Risk of Cancer?
Various benign and malignant tumors have been described in people with MUL: Cysts in multiple organs, benign tumors of the adrenal gland, thyroid and parathyroid glands, pancreas, kidney, and ovaries. Malignant tumors include Wilms’ tumor (also known as nephroblastoma, a kidney tumor that occurs mainly in children), renal cell carcinoma, and tumors of the thyroid gland, ovaries, and uterus.
MUL is so rare that there is no reliable information on the exact cancer risk.
What Is Known About the Development of "Mulibrey Nanism "?
MUL is caused by a mutation, i.e., a genetic change in the TRIM37 gene. This gene controls important biological processes that are also important during mental and physical development. Two mutations are required (recessive disease).
Is There Any Form of Treatment Available?
Caring for children requires an expert multi-professional team that works closely with the family concerned.
Diagnosis of " Mulibrey Nanism" What's Next?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Diagnosis of " Mulibrey Nanism" What's Next?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Medical Measures for Early Detection
It is advisable to have an ultrasound examination of the kidneys every three months until age 7. In adults, early detection of the thyroid gland, kidneys, ovaries, and uterus should be carried out (e.g., by ultrasound).
Mulibrey Nanism- What You Can Do Yourself
You Should Pay Attention to This
It is a good idea to talk to other sufferers. Your treatment team should clarify every new symptom.
Further Information
- Link to German website of the support group “Parents of Children with small stature.”
- Link to German website of the Children’s Heart Foundation
Patients can also register for the CPS registry at any time or have this done by the doctors looking after them.
Any further questions?
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