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Disease Profile
Mulibrey Nanism
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Childhood
ICD-10
Q87.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Muscle-liver-brain-eye nanism; Pericardial constriction and growth failure; Perheentupa syndrome
Categories
Congenital and Genetic Diseases
Summary
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;
Symptoms
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
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
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.
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 | |
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 |
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 |
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 | |
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 |
Diagnosis
Related diseases
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.
|
Organizations
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
-
Little People of America, Inc.
617 Broadway #518
Sonoma, CA 95476
Toll-free: 1-888-572-2001
Telephone: +1-714-368-3689
Fax: +1-707-721-1896
E-mail: [email protected]
Website: https://www.lpaonline.org/
Organizations Providing General Support
-
American Heart Association
7272 Greenville Avenue
Dallas, TX 75231-4596
Toll-free: 800-242-8721
Telephone: 214-570-5978
E-mail: https://www.heart.org/en/forms/general-questions-and-latest-research-information
Website: https://www.heart.org -
Human Growth Foundation
997 Glen Cove Avenue, Suite 5
Glen Head, NY 11545
Toll-free: 1-800-451-6434
Fax: 516-671-4055
E-mail: [email protected]
Website: https://www.hgfound.org/
Learn more
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.
References
- Mulibrey Nanism. NORD. April 12, 2008; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1040/viewAbstract. Accessed 6/2/2011.
- N Karlberg, H Jalanko, J Perheentupa, M Lipsanen-Nyman. Mulibrey nanism: clinical features and diagnostic criteria. Journal of Medical Genetics. 2004; 41:92-98. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735664/pdf/v041p00092.pdf. Accessed 6/2/2011.
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