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Disease Profile

Mosaic variegated aneuploidy syndrome

Prevalence
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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

Q99.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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Not applicable

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Other names (AKA)

MVA syndrome; Warburton-Anyane-Yeboa syndrome

Categories

Congenital and Genetic Diseases; Rare Cancers

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).[1][2] Only about 50 cases have been described in the medical literature.[1][3] 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.[1][3][4] 

MVA syndrome is an autosomal recessive condition. It can be caused by changes (mutations) 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.[1][5] Treatment depends on the symptoms present in each person, but may include growth hormone therapy. Individuals with a BUB1B mutations should also be offered cancer screening.[1]

Symptoms

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
Ascites
Accumulation of fluid in the abdomen
0001541
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Corneal opacity
0007957
Dandy-Walker malformation
0001305
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Glaucoma
0000501
Increased nuchal translucency
0010880
Micrognathia
Little lower jaw
Small lower jaw
Small jaw

[ more ]

0000347
Microphthalmia
Abnormally small eyeball
0000568
Muscular dystrophy
0003560
Polyhydramnios
High levels of amniotic fluid
0001561
30%-79% of people have these symptoms
Abnormality of vision
Abnormality of sight
Vision issue

[ more ]

0000504
Global developmental delay
0001263
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Triangular face
Face with broad temples and narrow chin
Triangular facial shape

[ more ]

0000325
5%-29% of people have these symptoms
Abnormal lung lobation
0002101
Abnormality of immune system physiology
0010978
Abnormality of skin pigmentation
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly

[ more ]

0001000
Acute lymphoblastic leukemia
0006721
Ambiguous genitalia
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia

[ more ]

0000062
Aortic regurgitation
0001659
Aplasia/Hypoplasia of the cerebellum
Absent/small cerebellum
Absent/underdeveloped cerebellum

[ more ]

0007360
Aplasia/Hypoplasia of the corpus callosum
0007370
Apnea
0002104
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers

[ more ]

0001631
Cleft palate
Cleft roof of mouth
0000175
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Coarctation of aorta
Narrowing of aorta
Narrowing of the aorta

[ more ]

0001680
Colon cancer
0003003
Depressed nasal ridge
Flat nose
Recessed nasal ridge

[ more ]

0000457
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Duodenal atresia
Absence or narrowing of first part of small bowel
0002247
Frontal bossing
0002007
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
High forehead
0000348
Holoprosencephaly
0001360
Hypothyroidism
Underactive thyroid
0000821
Intestinal polyposis
0200008
Low-set, posteriorly rotated ears
0000368
Multicystic kidney dysplasia
0000003
Multiple cafe-au-lait spots
0007565
Muscular hypotonia
Low or weak muscle tone
0001252
Myelodysplasia
0002863
Nephroblastoma
0002667
Osteolysis
Breakdown of bone
0002797
Rhabdomyosarcoma
0002859
Seizure
0001250
Sloping forehead
Inclined forehead
Receding forehead

[ more ]

0000340
Stomach cancer
0012126
Subvalvular aortic stenosis
Narrowing of blood vessel below aortic heart valve
0001682
Temporal bossing
0032569
Vaginal neoplasm
Vaginal tumor
0100650
Wide nose
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose

[ more ]

0000445
1%-4% of people have these symptoms
Blepharophimosis
Narrow opening between the eyelids
0000581
Cafe-au-lait spot
0000957
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye

[ more ]

0000490
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
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 ]

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.

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. 
    Mosaic variegated aneuploidy syndrome 1
    Mosaic variegated aneuploidy syndrome 2
  • 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 Mosaic variegated aneuploidy syndrome. Click on the link to view a sample search on this topic.

References

  1. Hanks S, Rahman N, Snape K. Mosaic variegated aneuploidy syndrome. Orphanet. May 2012; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1052.
  2. Cho CH, Oh MJ, Lim CS, Lee CK, Cho Y, Yoon SY. A case report of a fetus with mosaic autosomal variegated aneuploidies and literature review. Ann Clin Lab Sci. 2015 Winter; 45(1):106-9. https://www.ncbi.nlm.nih.gov/pubmed/25696020.
  3. Mosaic variegated aneuploidy syndrome 1. Online Mendelian Inheritance in Man. April 2, 2012; https://www.omim.org/entry/257300.
  4. Akasaka N, Tohyama J, Ogawa A, Takachi T, Watanabe A, Asami K. Refractory infantile spasms associated with mosaic variegated aneuploidy syndrome. Pediatr Neurol. 2013 Nov; 49(5):364-7. https://www.ncbi.nlm.nih.gov/pubmed/23916859.
  5. Pinson L, Mannini L, Willems M, Cucco F, Sirvent N, Frebourg T, Quarantotti V, Collet C, Schneider A, Sarda P, Geneviève D, Puechberty J, Lefort G, Musio A. CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome. Am J Med Genet A. 2014 Jan; 164A(1):177-81. https://www.ncbi.nlm.nih.gov/pubmed/24259107.

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