What is Mulibrey nanism?
Mulibrey nanism is a rare genetic disorder characterized by profound growth delays and distinctive abnormalities of the muscles, liver, brain, and eyes. The acronym MULIBREY stands for (MU)scle, (LI)ver, (BR)ain, and (EY)e; nanism is another word for dwarfism.
How common is Mulibrey nanism?
Please discuss with your doctor for further information.
What are the symptoms of Mulibrey nanism?
Progressive growth failure which begins prenatally is the primary presenting feature of Mulibrey nanism.
Children with this condition generally have:
- Low muscle tone
- Triangularly shaped face along with other abnormalities of the head
- Yellow discoloration of the eyes
- Abnormally high pitched voice
Affected infants with Mulibrey nanism have:
- Symptoms of constricted pericarditis, a condition related to overgrowth of the fibrous sac that surrounds the heart. If this condition is present at birth, the newborn will have bluish discoloration of the lips and the tips of the fingers.
- Lung congestion
- Abdominal ascites
- Peripheral edema
- Cardiac hypertrophy
Children suffering from Mulibrey nanism also have:
- Increased pressure in the pulmonary artery along with chronic congestion or even blockage of this artery which affects the normal functioning of the lungs
- Pulmonary fibrosis
- Underdeveloped endocrine glands which lead to various hormonal problems.
Females with this condition tend to have:
- Delayed puberty and irregular menstrual periods
- Increased risk for premature ovarian failure
- Ovarian tumors
There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.
When should I see my doctor?
If you or your loved one has any signs or symptoms listed above or you have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.
What causes Mulibrey nanism?
Mulibrey nanism is caused by mutations in the TRIM37 gene. This gene is located in the 17th chromosome.
Mulibrey nanism follows an autosomal recessive pattern of inheritance meaning that one copy of the defective gene from each parent is required for a child to develop this condition.
What increases my risk for Mulibrey nanism?
Please consult with your doctor for further information.
Diagnosis & treatment
The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.
How is Mulibrey nanism diagnosed?
The characteristic features of Mulibrey nanism make it easier for a physician to diagnose this condition at birth by way of a thorough clinical evaluation. Radiological studies in the form of CT and MRI scans of the heart and the abdominal areas may reveal findings characteristic for Mulibrey nanism like hepatomegaly and constricted pericarditis.
Echocardiograms may further prove the presence of constricted pericarditis. Once Mulibrey nanism is suspected, molecular genetic testing for the TRIM37 gene is available to confirm the diagnosis.
How is Mulibrey nanism treated?
There is no specific treatment for Mulibrey nanism. Treatment is only symptomatic and supportive. For conditions like constricted pericarditis surgery may be required to correct the abnormality. For cases of progressive heart failure, medications like diuretics may be given to control the condition.
For children with growth hormone deficiency, hormone replacement therapy is recommended. This can also address the issue of delayed puberty and menstrual problems in females with Mulibrey nanism.
Females with Mulibrey nanism should be monitored closely for any signs of ovarian tumor, and if present, prompt treatment should be given.
Lifestyle changes & home remedies
What are some lifestyle changes or home remedies that can help me manage Mulibrey nanism?
If you have any questions, please consult with your doctor to better understand the best solution for you.
Hello Health Group does not provide medical advice, diagnosis or treatment.
Review Date: February 5, 2018 | Last Modified: February 5, 2018
What is Mulibrey Nanism: Causes, Symptoms, Treatment https://www.epainassist.com/genetic-disorders/what-is-mulibrey-nanism Accessed February 05, 2018
Mulibrey Nanism https://rarediseases.info.nih.gov/diseases/95/mulibrey-nanism Accessed February 05, 2018