Mosaic variegated aneuploidy syndrome

Title

Other Names:

MVA syndrome; Warburton-Anyane-Yeboa syndrome

Categories:

Congenital and Genetic Diseases; Rare Cancers

Summary 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]

Last updated: 3/2/2017

Symptoms 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.

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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
Seizures	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
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 ]	0005280
Dolichocephaly	Long, narrow head Tall and narrow skull [ more ]	0000268
Epidermoid cyst	Skin cyst	0200040
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Growth hormone deficiency		0000824
Intellectual disability, mild	Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ]	0001256
Long face	Elongation of face Increased height of face Increased length of face Vertical elongation of face Vertical enlargement of face Vertical overgrowth of face [ more ]	0000276
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Short palpebral fissure	Short opening between the eyelids	0012745
Sleep apnea	Pauses in breathing while sleeping	0010535
Percent of people who have these symptoms is not available through HPO
Agenesis of corpus callosum		0001274
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Autosomal recessive inheritance		0000007
Bifid scrotum	Cleft of scrotum	0000048
Brachycephaly	Short and broad skull	0000248
Cerebellar hypoplasia	Small cerebellum Underdeveloped cerebellum [ more ]	0001321
Cerebral hypoplasia	Small cerebrum Underdeveloped cerebrum [ more ]	0006872
Clinodactyly	Permanent curving of the finger	0030084
Combined immunodeficiency		0005387
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Feeding difficulties in infancy		0008872
Generalized myoclonic seizures		0002123
Generalized tonic-clonic seizures	Grand mal seizures	0002069
Hydrocephalus	Too much cerebrospinal fluid in the brain	0000238
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Hypodysplasia of the corpus callosum		0006849
Hypospadias		0000047
Intellectual disability, profound	IQ less than 20	0002187
Intrauterine growth retardation	Prenatal growth deficiency Prenatal growth retardation [ more ]	0001511
Leukemia		0001909
Long philtrum		0000343
Malar flattening	Zygomatic flattening	0000272
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Micropenis	Short penis Small penis [ more ]	0000054
Midface retrusion	Decreased size of midface Midface deficiency Underdevelopment of midface [ more ]	0011800
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Oligohydramnios	Low levels of amniotic fluid	0001562
Posteriorly rotated ears	Ears rotated toward back of head	0000358
Postnatal growth retardation	Growth delay as children	0008897
Premature chromatid separation		0200024
Renal cyst	Kidney cyst	0000107
Severe global developmental delay		0011344
Short neck	Decreased length of neck	0000470
Short stature	Decreased body height Small stature [ more ]	0004322
Short sternum		0000879
Small for gestational age	Birth weight less than 10th percentile Low birth weight [ more ]	0001518
Triangular mouth	Triangular shaped mouth	0000207
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582
Ventricular septal defect	Hole in heart wall separating two lower heart chambers	0001629
Ventriculomegaly		0002119

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 4/1/2019

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases 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
Aneuploidy can be a feature of chromosomal instability syndromes including Roberts syndrome, ataxia telangiectasia, xeroderma pigmentosum, Bloom syndrome, Werner syndrome and Nijmegen breakage syndrome. Microcephaly with chromosome instability can occur in Fanconi anemia (see these terms). Visit the Orphanet disease page for more information.

Learn 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.

GARD Answers GARD Answers

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.

Have a question? Contact a GARD Information Specialist.

References References

Hanks S, Rahman N, Snape K. Mosaic variegated aneuploidy syndrome. Orphanet. May 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1052.
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.
Mosaic variegated aneuploidy syndrome 1. Online Mendelian Inheritance in Man. April 2, 2012; https://www.omim.org/entry/257300.
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.
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.