National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Mulibrey Nanism


Other Names:
Muscle-liver-brain-eye nanism; Pericardial constriction and growth failure; Perheentupa syndrome
Categories:
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. Signs and symptoms of the disorder may include constrictive pericarditis; low birth weight; short stature; severe progressive growth delays; hypotonia; hepatomegaly; and yellow discoloration of the eyes in infancy. It is caused by mutations in the TRIM37 gene and is inherited in an autosomal recessive manner. Treatment may include surgery for constrictive pericarditis, medications for progressive heart failure and hormone replacement therapy.[1]
Last updated: 6/2/2011
Mulibrey nanism (MN) is characterized by progressive growth failure that begins prenatally (before birth). Hypotonia (poor muscle tone) is common. Newborns often have characteristic abnormalities of the head and face, including a triangularly shaped face. Yellow discoloration of the eyes and other ocular abnormalities may be present, but vision is usually normal. More than 90 percent of affected individuals have a J-shaped sella turcica, which is a depression in the sphenoid bone at the base of the skull. Infants with mulibrey nanism may also have symptoms related to overgrowth of the fibrous sac surrounding the heart (constrictive pericarditis). When constrictive pericarditis is present at birth, affected infants may have a bluish discoloration of the skin (cyanosis), especially on the lips and fingertips.[1]

Individuals with MN typically have a high-pitched voice. Other symptoms may include abnormally prominent veins in the neck, congestion in the lungs, abnormal fluid accumulation in the abdomen (ascites), swelling of the arms and/or legs (peripheral edema), and/or enlargement of the heart (cardiac hypertrophy) and/or liver (hepatomegaly). There may also be elevated pressure in the veins, congestion or blockage in the main artery serving the lungs (pulmonary artery), and/or a build-up of fibrous tissue in the walls of the lungs (pulmonary fibrosis). Associated complications of these conditions may lead to congestive heart failure.[1]

In some cases, individuals with mulibrey nanism may have additional physical abnormalities, such as an unusually thin shinbone (fibrous tibia dysplasia). Large cerebral ventricles in the brain and delayed motor development are uncommon findings. Most affected individuals have normal intelligence. Individuals with mulibrey nanism often have underdevelopment of various endocrine glands, that leads to hormone deficiencies. Delayed puberty sometimes occurs, accompanied by infrequent or very light menstrual periods. Females have an increased risk for premature ovarian failure and ovarian tumors.[1]
Last updated: 6/2/2011

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Cachexia
Wasting syndrome
0004326
High pitched voice 0001620
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ] 		0001511
J-shaped sella turcica 0002680
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ] 		0000256
Reduced tendon reflexes 0001315
Short stature
Decreased body height
Small stature
[ more ] 		0004322
30%-79% of people have these symptoms
Hepatomegaly
Enlarged liver
0002240
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] 		0000431
Percent of people who have these symptoms is not available through HPO
Absent frontal sinuses 0002688
Astigmatism
Abnormal curving of the cornea or lens of the eye
0000483
Autosomal recessive inheritance 0000007
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure
[ more ] 		0001635
Dental crowding
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ] 		0000678
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] 		0005280
Dolichocephaly
Long, narrow head
Tall and narrow skull
[ more ] 		0000268
Dysarthria
Difficulty articulating speech
0001260
Frontal bossing 0002007
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Hypodontia
Failure of development of between one and six teeth
0000668
Hypoplastic frontal sinuses 0002738
Microglossia
Abnormally small tongue
Underdevelopment of the tongue
[ more ] 		0000171
Muscular hypotonia
Low or weak muscle tone
0001252
Myocardial fibrosis 0001685
Nephroblastoma 0002667
Nevus
Mole
0003764
Pericardial constriction 0005132
Pigmentary retinopathy 0000580
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Triangular face
Face with broad temples and narrow chin
Triangular facial shape
[ more ] 		0000325
Ventriculomegaly 0002119
Weak voice
Soft voice
0001621
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Last updated: 7/1/2020
Testing for the TRIM37 gene is available for carrier testing, confirming the diagnosis, and prenatal diagnosis. GeneTests lists the names of laboratories that are performing genetic testing for mulibrey nanism. To view the contact information for the clinical laboratories conducting testing, click here. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Last updated: 6/2/2011
Differences in the nature and severity of the wide range of abnormalities and complications make it difficult to predict the course of the disorder in any one individual. Some individuals may be more mildly affected, while others experience severe complications. Episodes of respiratory failure induced by an infection, as well as congestive heart failure, have occurred in infants (in addition to older individuals) with the disorder and may cause early death. It has been suggested that constrictive pericarditis with restrictive cardiomyopathy, when present, plays a large part in the prognosis. Because the heart involvement is critical for the prognosis, early diagnosis is usually of major importance.[2]
Last updated: 6/2/2011

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes dysmorphic growth disorders with prenatal onset growth failure, namely Silver-Russell syndrome and 3M-syndrome.
Visit the Orphanet disease page for more information.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Mulibrey Nanism. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • My boyfriend has mulibrey nanism. I've tried to find some information about the disease, but it is hard to come by. What complications may occur in the future? Do people with this condition have a shortened life expectancy? Is it true that individuals with this condition are infertile? Is there any test I can do to see if I am a carrier of the gene for the condition? See answer


  1. Mulibrey Nanism. NORD. April 12, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1040/viewAbstract. Accessed 6/2/2011.
  2. N Karlberg, H Jalanko, J Perheentupa, M Lipsanen-Nyman. Mulibrey nanism: clinical features and diagnostic criteria. Journal of Medical Genetics. 2004; 41:92-98. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735664/pdf/v041p00092.pdf. Accessed 6/2/2011.