Mosaic variegated aneuploidy (MVA) syndrome is a very rare condition characterized by problems with cell division (specifically during mitosis) that results in a high number of cells with missing (monosomy) or extra (trisomy) genetic material in multiple chromosomes and tissues (mosaic aneuploidies). Only about 50 cases have been described in the medical literature. Features include severe microcephaly, growth deficiency and short stature, mild physical abnormalities, eye abnormalities, problems with the brain and central nervous system, seizures, developmental delay, and intellectual disability. The risk for cancer is increased, with rhabdomyosarcoma, Wilm's tumor, and leukemia reported in several cases. MVA syndrome is an autosomal recessive condition. It can be caused by changes in the BUB1B gene or the CEP57 gene. The BUB1B gene encodes BubR1, a key protein in mitotic spindle checkpoint function. The CEP57 gene is involved in microtubule stabilization. Both play a role in the process of cell division.
Summary
Mosaic variegated aneuploidy (MVA) syndrome is a very rare condition characterized by problems with cell division (specifically during mitosis) that results in a high number of cells with missing (monosomy) or extra (trisomy) genetic material in multiple chromosomes and tissues (mosaic aneuploidies). Only about 50 cases have been described in the medical literature. Features include severe microcephaly, growth deficiency and short stature, mild physical abnormalities, eye abnormalities, problems with the brain and central nervous system, seizures, developmental delay, and intellectual disability. The risk for cancer is increased, with rhabdomyosarcoma, Wilm's tumor, and leukemia reported in several cases. MVA syndrome is an autosomal recessive condition. It can be caused by changes in the BUB1B gene or the CEP57 gene. The BUB1B gene encodes BubR1, a key protein in mitotic spindle checkpoint function. The CEP57 gene is involved in microtubule stabilization. Both play a role in the process of cell division.Mosaic variegated aneuploidy (MVA) syndrome is a very rare condition characterized by problems with cell division (specifically during mitosis) that results in a high number of cells with missing (monosomy) or extra (trisomy) genetic material in multiple chromosomes and tissues (mosaic aneuploidies). Only about 50 cases have been described in the medical literature. Features include severe microcephaly, growth deficiency and short stature, mild physical abnormalities, eye abnormalities, problems with the brain and central nervous system, seizures, developmental delay, and intellectual disability. The risk for cancer is increased, with rhabdomyosarcoma, Wilm's tumor, and leukemia reported in several cases. MVA syndrome is an autosomal recessive condition. It can be caused by changes in the BUB1B gene or the CEP57 gene. The BUB1B gene encodes BubR1, a key protein in mitotic spindle checkpoint function. The CEP57 gene is involved in microtubule stabilization. Both play a role in the process of cell division.
Read More
Read Less
Resource(s) for Medical Professionals and Scientists on This Disease:
Orphanetprovides GARD with information for this disease.
RARe-SOURCE™offers rare disease gene variant annotations and links to rare disease gene literature.
About Mosaic variegated aneuploidy syndrome
Many rare diseases have limited information. Currently GARD aims to provide the following information for this disease:
Population Estimate:Fewer than 1,000 people in the U.S. have thisdisease.
Symptoms:May start to appear during Pregnancy and as a Newborn.
Cause:This disease is caused by changes in the way information is arranged into chromosomes.
Organizations:GARD is not currently aware of organizations specific to this disease.
When Do Symptoms of Mosaic variegated aneuploidy syndrome Begin?
Symptoms of this disease may start to appear during Pregnancy and as a Newborn.
The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms from some diseases may begin at any age. Knowing when symptoms began to appear can help medical providers find the correct diagnosis.
Prenatal Selected
Before Birth
Newborn Selected
Birth-4 weeks
Infant
1-23 months
Child
2-11 years
Adolescent
12-18 years
Adult
19-65 years
Older Adult
65+ years
Symptoms may start to appear during Pregnancy and as a Newborn.
Symptoms
The types of symptoms experienced, and their intensity, may vary among people with this disease. Your experience may be different from others, and you should consult your primary care provider (PCP) for more information.
This list does not include all possible symptoms related to this disease, but they may include:
Digestive System Digestive System
63 Symptoms
Tile View
List View
Tile View
List View
Body Systems
Symptoms related to this disease may affect different systems of the body. Use the 'Filter and Sort' function to learn more about which body system(s) are affected by this disease and their associated symptom(s).
Medical Term
Ascites
Frequency
Uncommon
Very frequent
Very frequent
Always
Description
Accumulation of fluid in the peritoneal cavity.
Accumulation of fluid in the peritoneal cavity.
Synonym
Accumulation of fluid in the abdomen
Accumulation of fluid in the abdomen
63 Symptoms
Causes
What Causes This Disease?
Genetic Changes
Mosaic variegated aneuploidy syndrome is caused by harmful genetic changes, also known as pathogenic variants. Genetic changes can occur randomly, as a result of environmental factors, from parents passing them down to their children, or a combination of these. Additionally, they can occur before birth or at any time during a person's life. Learn more about genetic diseases from the National Library of Medicine (NLM).
If you suspect you may have this disease, you may want to start collecting your family health history. Information such as other family members who have had similar symptoms, when their/your symptoms first appeared, or exposures to any potential disease-causing environmental factors should be discussed with your medical team. This tool from the Surgeon General can help you collect your family health history.
Can This Disease Be Passed Down From Parent to Child?
Yes. It is possible for a biological parent to pass down pathogenic variants that cause or increase the chances of getting this disease to their child. This is known as inheritance. Knowing whether other family members have previously had this disease, also known as family health history, can be very important information for your medical team. This tool from the Surgeon General can help you collect your family health history.
There are multiple ways, or patterns, a disease can be inherited depending on the gene(s) involved. Based on GARD's current pathogenic variant data, this disease can be inherited in the following pattern(s):
Autosomal Recessive
"Autosomal" means the gene involved is located on one of the numbered chromosomes. "Recessive" means that a child must inherit two copies of the pathogenic variant, one from each biological parent, to be affected by the disease. A carrier is a person who only has one copy of the pathogenic variant. A carrier usually doesn't show any symptoms of the disease.
If both biological parents are carriers, there is a 25% their child inherits both copies of the pathogenic variant and is affected by the disease. Additionally, there is a 50% chance their child inherits only one copy of the pathogenic variant and is a carrier.
Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.
Services of patient organizations differ, but may include:
Ways to connect to others and share personal stories
Easy-to-read information
Up-to-date treatment and research information
Patient registries
Lists of specialists or specialty centers
Financial aid and travel resources
Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Please contact an organization directly if you have questions about the information or resources it provides.
Clinical studies are part of clinical research and at the heart of all medical advances, including rare diseases. Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.
What Are Clinical Studies?
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
Observational studies involve recording changes over time among a specific group of people in their natural settings.
People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.
To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
Join the All of Us Research Program!
The All of Us Research Program is inviting 1 million people from all backgrounds across the U.S. to help build one of the most diverse health databases in history. Researchers will use the data to learn how our biology, lifestyle, and environment affect health. This may one day help them find ways to treat and prevent diseases.
What if There Are No Available Clinical Studies?
ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.
What Are Clinical Studies?
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
Observational studies involve recording changes over time among a specific group of people in their natural settings.
People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.
To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.
To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
Read More
Read Less
Join the All of Us Research Program!
The All of Us Research Program is inviting 1 million people from all backgrounds across the U.S. to help build one of the most diverse health databases in history. Researchers will use the data to learn how our biology, lifestyle, and environment affect health. This may one day help them find ways to treat and prevent diseases.
What if There Are No Available Clinical Studies?
ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Note, GARD cannot enroll individuals in clinical studies.
Use the contact form to send your questions to a GARD Information Specialist.
Please allow 2 to 10 business days for us to respond.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Note, GARD cannot enroll individuals in clinical studies.
Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.
Data collected from Orphanet and Online Mendelian Inheritance in Man (OMIM) are used to interpret and provide information on rare diseases. This includes names, synonyms, genes, symptom frequency, population estimates and more.
Human Phenotype Ontology (HPO) provides standard terminology that was used by Orphanet and OMIM to represent a disease's phenotypic features. HPO provides information on describing these clinical features.
1-888-205-2311 
