mosaic variegated aneuploidy (MVA)
What is mosaic variegated aneuploidy (MVA)?
Mosaic variegated aneuploidy (MVA) syndrome is a very rare condition characterized by problems with celldivision (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 (mutations) in the BUB1Bgene 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.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
Mosaic variegated aneuploidy (MVA) syndrome is a very rare condition characterized by problems with celldivision (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 (mutations) in the BUB1Bgene 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.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
| Ascites | ||
| Cataract |
Cloudy lens |
|
| Corneal opacity | ||
| Dandy-Walker malformation | ||
| Epicanthus |
Eye folds |
|
| Glaucoma | ||
| Increased nuchal translucency | ||
| Micrognathia | ||
| Microphthalmia |
Abnormally small eyeball |
|
| Muscular dystrophy | ||
| Polyhydramnios | ||
| 30%-79% of people have these symptoms | ||
| Abnormality of vision |
Abnormality of sight |
|
| Global developmental delay | ||
| Intellectual disability |
Mental deficiency |
|
| Triangular face |
Face with broad temples and narrow chin |
|
| 5%-29% of people have these symptoms | ||
| Abnormal lung lobation | ||
| Abnormality of immune systemphysiology | ||
| Abnormality of skin pigmentation |
Abnormal pigmentation |
|
| Acute lymphoblastic leukemia | ||
| Ambiguous genitalia |
Ambiguous external genitalia |
|
| Aortic regurgitation | ||
| Aplasia/Hypoplasia of the cerebellum |
Absent/small cerebellum |
|
| Aplasia/Hypoplasia of the corpus callosum | ||
| Apnea | ||
| Atrial septal defect | ||
| Cleft palate | ||
| Clinodactyly of the 5th finger | ||
| Coarctation of aorta | ||
| Colon cancer | ||
| Depressed nasal ridge |
Flat nose |
|
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids |
|
| Duodenal atresia | ||
| Epidermoid cyst |
Skin cyst |
|
| Frontal bossing | ||
| Hearing impairment |
Hearing defect |
|
| High forehead | ||
| Holoprosencephaly | ||
| Hypothyroidism |
Underactive thyroid |
|
| Intestinal polyposis | ||
| Low-set, posteriorly rotated ears | ||
| Multicystic kidney dysplasia | ||
| Multiple cafe-au-lait spots | ||
| Muscular hypotonia | ||
| Myelodysplasia | ||
| Nephroblastoma | ||
| Osteolysis | ||
| Rhabdomyosarcoma | ||
| Seizures |
Seizure |
|
| Short palpebral fissure |
Short opening between the eyelids |
|
| Sloping forehead |
Inclined forehead |
|
| Stomach cancer | ||
| Subvalvular aortic stenosis | ||
| Vaginal neoplasm |
Vaginal tumor |
|
| Wide nose |
Broad nose |
|
| 1%-4% of people have these symptoms | ||
| Blepharophimosis |
Narrow opening between the eyelids |
|
| Cafe-au-lait spot | ||
| Deeply set eye |
Deep set eye |
|
| Delayed skeletal maturation |
Delayed bone maturation |
|
| Depressed nasal bridge |
Depressed bridge of nose |
|
| Dolichocephaly | ||
| Growth hormone deficiency | ||
| Intellectual disability, mild |
Mental retardation, borderline-mild |
|
| Long face |
Elongation of face |
|
| Low-set ears |
Low set ears |
|
| Short nose |
Decreased length of nose |
|
| Sleep apnea | ||
| Percent of people who have these symptoms is not available through HPO | ||
| Agenesis of corpus callosum | ||
| Anteverted nares |
Nasal tip, upturned |
|
| Autosomal recessive inheritance | ||
| Bifid scrotum |
Cleft of scrotum |
|
| Brachycephaly | ||
| Cerebellar hypoplasia |
Small cerebellum |
|
| Cerebral hypoplasia |
Small cerebrum |
|
| Clinodactyly | ||
| Combined immunodeficiency | ||
| Cryptorchidism |
Undescended testes |
|
| Feeding difficulties in infancy | ||
| Generalized hypotonia |
Decreased muscle tone |
|
| Generalized myoclonic seizures | ||
| Generalized tonic-clonic seizures |
Grand mal seizures |
|
| Hydrocephalus | ||
| Hypertelorism |
Wide-set eyes |
|
| Hypodysplasia of the corpus callosum | ||
| Hypospadias | ||
| Intellectual disability, profound | ||
| Intrauterine growth retardation |
Prenatal growth deficiency |
|
| Leukemia | ||
| Long philtrum | ||
| Malar flattening |
Zygomatic flattening |
|
| Microcephaly |
Abnormally small skull |
|
| Micropenis |
Short penis |
|
| Midface retrusion |
Decreased size of midface |
|
| Nystagmus | ||
| Oligohydramnios | ||
| Phenotypic variability | ||
| Posteriorly rotated ears | ||
| Postnatal growth retardation |
Growth delay as children |
|
| Premature chromatid separation | ||
| Renal cyst | ||
| Severe global developmental delay | ||
| Short neck |
Decreased length of neck |
|
| Short stature |
Decreased body height |
|
| Short sternum | ||
| Small for gestational age |
Birth weight less than 10th percentile |
|
| Triangular mouth |
Triangular shaped mouth |
|
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids |
|
| Ventricular septal defect | ||
| Ventriculomegaly | ||
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.
We have not found any information on treatments available. We (personally) are screening every few months for cancer with a children's hospital in Dallas, Texas.
There are so few people with this that the Dr.'s we have talked to have no been able to give a prognosis. We are hoping to find more families who are going through this to help start to fill in the gaps.
mosaic variegated aneuploidy (MVA) community discussions will be posted here.
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Clinical Trials
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
- Complete the screening form.
- Review the informed consent.
- Answer the permission and data sharing questions.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
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