Skip to main content
U.S. Department of Health & Human Services
National Institutes of Health
NCATS
National Center for Advancing and Translational Sciences National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences
1-888-205-2311
Menu Search
1-888-205-2311
Menu
  • Home
  • Diseases expand submenu for Diseases
    • Browse A-Z
    • Find Diseases By Category expand submenu for Find Diseases By Category
      • Autoimmune / Autoinflammatory diseases
      • Bacterial infections
      • Behavioral and mental disorders
      • Blood Diseases
      • Chromosome Disorders
      • Congenital and Genetic Diseases
      • Connective tissue diseases
      • Digestive Diseases
      • Ear, Nose, and Throat Diseases
      • Endocrine Diseases
      • Environmental Diseases
      • Eye diseases
      • Female Reproductive Diseases
      • Fungal infections
      • Heart Diseases
      • Hereditary Cancer Syndromes
      • Immune System Diseases
      • Kidney and Urinary Diseases
      • Lung Diseases
      • Male Reproductive Diseases
      • Metabolic disorders
      • Mouth Diseases
      • Musculoskeletal Diseases
      • Myelodysplastic Syndromes
      • Nervous System Diseases
      • Newborn Screening
      • Nutritional diseases
      • Parasitic diseases
      • Rare Cancers
      • RDCRN
      • Skin Diseases
      • Viral infections
    • List of FDA Orphan Drugs
    • GARD Information Navigator
    • FAQs About Rare Diseases
  • Guides expand submenu for Guides
    • Patients, Families and Friends expand submenu for Patients, Families and Friends
      • How to Find a Disease Specialist
      • Tips for the Undiagnosed
      • Support for Patients and Families
      • Tips for Finding Financial Aid
      • Help with Travel Costs
      • How to Get Involved in Research
      • FAQs About Chromosome Disorders
      • Medical and Science Glossaries
    • Healthcare Professionals expand submenu for Healthcare Professionals
      • Caring for Your Patient with a Rare Disease
      • ICD Coding for Rare Diseases
      • FindZebra Diagnosis Assist Tool
    • Researchers expand submenu for Researchers
      • Finding Funding Opportunities
    • Teachers and Students expand submenu for Teachers and Students
      • Teaching Resources
  • News expand submenu for News
    • In The Spotlight
    • News Archive
    • Connect with GARD
    • Media Requests
  • About GARD expand submenu for About GARD
    • Contact GARD
    • About GARD
    • Videos
    • Brochures and Publications
  • En Español expand submenu for En Español
    • Enfermedades
    • Contacte GARD
    • Guías de Información expand submenu for Guías de Información
      • Preguntas Más Frecuentes Sobre Enfermedades Raras
      • Como Encontrar un Especialista en su Enfermedad
      • Consejos Para una Condición no Diagnosticada
      • Consejos Para Pacientes y Familias
      • Consejos Para Obtener Ayuda Financiera Para Una Enfermedad
      • Participe en Estudios de Investigación
      • Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos
    • Sobre GARD
  • Home
© Positive Exposure
banner showing people with disabilities and/or their relatives
  1. Home
  2. Diseases
  3. Mosaic variegated aneuploidy syndrome
print
  • Table of Contents expand submenu for Table of Contents
    • Summary
    • Symptoms
    • Diagnosis
    • Find a Specialist
    • Related Diseases
    • Learn More
    • GARD Answers
    • References
  • Browse A-Z
  • Find Diseases By Category expand submenu for Find Diseases By Category
    • Autoimmune / Autoinflammatory diseases
    • Bacterial infections
    • Behavioral and mental disorders
    • Blood Diseases
    • Chromosome Disorders
    • Congenital and Genetic Diseases
    • Connective tissue diseases
    • Digestive Diseases
    • Ear, Nose, and Throat Diseases
    • Endocrine Diseases
    • Environmental Diseases
    • Eye diseases
    • Female Reproductive Diseases
    • Fungal infections
    • Heart Diseases
    • Hereditary Cancer Syndromes
    • Immune System Diseases
    • Kidney and Urinary Diseases
    • Lung Diseases
    • Male Reproductive Diseases
    • Metabolic disorders
    • Mouth Diseases
    • Musculoskeletal Diseases
    • Myelodysplastic Syndromes
    • Nervous System Diseases
    • Newborn Screening
    • Nutritional diseases
    • Parasitic diseases
    • Rare Cancers
    • RDCRN
    • Skin Diseases
    • Viral infections
  • List of FDA Orphan Drugs
  • GARD Information Navigator
  • FAQs About Rare Diseases
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

Mosaic variegated aneuploidy syndrome


Title


Other Names:
MVA syndrome; Warburton-Anyane-Yeboa syndrome
Categories:
Congenital and Genetic Diseases; Rare Cancers

Summary Summary


Listen
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


Listen

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.

Showing of 108 |
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 jaw
Small lower 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
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 ]
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
Showing of 108 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 12/1/2019
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


Listen

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


Listen

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


Listen

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


Listen

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


Listen

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


  1. 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.
  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.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

Share this content:

Share this content:

twitter-icon facebook-icon contact-icon link-icons

Copy Link

Link copied to your clipboard.

printer-icon

You May Be Interested In

How to Find a Disease Specialist

How to Find a Disease Specialist

Tips for the Undiagnosed

Tips for the Undiagnosed

Support for Patients and Families

Support for Patients and Families

Tips for Finding Financial Aid

Tips for Finding Financial Aid

Help with Travel Costs

Help with Travel Costs

How to Get Involved in Research

How to Get Involved in Research

FAQs About Chromosome Disorders

FAQs About Chromosome Disorders

Medical and Science Glossaries

Medical and Science Glossaries

Caring for Your Patient with a Rare Disease

Caring for Your Patient with a Rare Disease

ICD Coding for Rare Diseases

ICD Coding for Rare Diseases

FindZebra Diagnosis Assist Tool

FindZebra Diagnosis Assist Tool

Finding Funding Opportunities

Finding Funding Opportunities

Teaching Resources

Teaching Resources

placeholder for the horizontal scroll slider Back to top
GARD Home NCATS Home Site Map Browse Glossary A-Z Privacy Notice Disclaimer Accessibility FOIA OIG

If you have problems viewing PDF files, download the latest version of Adobe Reader

For language access assistance, contact the NCATS Public Information Officer

Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311

contact gard Office of Rare Disease Research Facebook Page Office of Rare Disease Research on Twitter
Listen