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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 rhabdomyosarcomaWilm'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 rhabdomyosarcomaWilm'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

Acknowledgement of mosaic variegated aneuploidy (MVA) has not been added yet.
Prevalence Information of mosaic variegated aneuploidy (MVA) has not been added yet.
Synonyms for mosaic variegated aneuploidy (MVA) has not been added yet.
Cause of mosaic variegated aneuploidy (MVA) has not been added yet.

 

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.
Diagnostic tests of mosaic variegated aneuploidy (MVA) has not been added yet

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.

Tips or Suggestions of mosaic variegated aneuploidy (MVA) has not been added yet.
References of mosaic variegated aneuploidy (MVA) has not been added yet.
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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.

  1. Complete the screening form.
  2. Review the informed consent.
  3. 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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