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Disease Profile
Mosaic trisomy 8
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.
Unknown
Age of onset
Infancy
ICD-10
Q92.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
Other names (AKA)
Mosaic trisomy chromosome 8; Trisomy 8 mosaicism
Categories
Chromosome Disorders; Congenital and Genetic Diseases
Summary
Mosaic
Symptoms
- Characteristic facial features such as elongation of the skull (scaphocephaly), prominent forehead, widely-spaced eyes, deeply set eyes, broad upturned nose, and
micrognathia - Brain malformations such as agenesis of the corpus callosum
- Highly arched or
cleft palate - Shortened neck with extra skin folds
- Long slim body with a narrow chest, shoulders, and pelvis
- Kidney and cardiac abnormalities
- Camptodactyly and stiff joints
- Absent malformed kneecap
- Vertebral malformations such as
scoliosis - Eye abnormalities
Most individuals with mosaic trisomy 8 have moderate
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 | ||
Intellectual disability, moderate |
IQ between 34 and 49
|
0002342 |
30%-79% of people have these symptoms | ||
Abnormality of the antihelix | 0009738 | |
Abnormality of the ribs |
Rib abnormalities
|
0000772 |
Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ] |
0000455 |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Corneal opacity | 0007957 | |
Deep palmar crease |
Deep palm line
|
0006191 |
Deep plantar creases |
Deep wrinkles in soles of feet
|
0001869 |
Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ] |
0000490 |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 |
Frontal bossing | 0002007 | |
Hydronephrosis | 0000126 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] |
0001376 |
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 |
Macrotia |
Large ears
|
0000400 |
Micrognathia |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
Narrow pelvis bone | 0003275 | |
Patellar aplasia |
Absent kneecap
|
0006443 |
Protruding ear |
Prominent ear
Prominent ears
[ more ] |
0000411 |
Scoliosis | 0002650 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Vertebral segmentation defect | 0003422 | |
Vesicoureteral reflux | 0000076 | |
Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ] |
0000445 |
5%-29% of people have these symptoms | ||
Abnormality of cardiovascular system morphology | 0030680 | |
Agenesis of |
0001274 | |
Arthrogryposis multiplex congenita | 0002804 | |
Cleft palate |
Cleft roof of mouth
|
0000175 |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Decreased testicular size |
Small testes
Small testis
[ more ] |
0008734 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hypopigmented skin patches |
Patchy loss of skin color
|
0001053 |
Short neck |
Decreased length of neck
|
0000470 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Tall stature |
Increased body height
|
0000098 |
Cause
In other cases, the egg and sperm may have a normal number of chromosomes, but an error of cell division (nondisjunction) occurs when the fertilized egg is growing and dividing. If an error occurs during one of the divisions, it can cause some cells to have an abnormal number of chromosomes. In people affected by mosaic trisomy 8, some of the body's cells have the usual two copies of chromosome 8, and other cells have three copies of this chromosome (trisomy). The percentage of cells with trisomy 8 and which parts of the body are affected vary from person to person. This leads to variability in the range and severity of symptoms.[2]
Treatment
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Chromosome Disorder Outreach (CDO)
PO Box 724
Boca Raton, FL 33429
Telephone: +1-561-395-4252
E-mail: https://chromodisorder.org/contact/
Website: https://chromodisorder.org/ -
Hope For Trisomy
PO Box 121986
Arlington, TX 76012
Toll-free: 1-866-977-6637
E-mail: [email protected]
Website: https://www.hopefortrisomy13and18.org/ -
Support Organization for Trisomy 18, 13, and Related Disorders (SOFT)
c/o Barb Vanherreweghe
2982 South Union Street
Rochester, NY 14624
Toll-free: 800-716-SOFT (7638)
Telephone: 585-594-4621
E-mail: [email protected]
Website: https://trisomy.org/ -
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: [email protected]
Website: https://www.rarechromo.org/
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.
Where to Start
- Genetics Home Reference (GHR) contains information on Mosaic trisomy 8. This website is maintained by the National Library of Medicine.
- Unique is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about mosaic trisomy 8.
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.
- 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 trisomy 8. Click on the link to view a sample search on this topic.
References
- Verloes A. Mosaic trisomy 8. Orphanet. April 2009; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96061.
- Trisomy 8 Mosaicism. Unique. 2012; https://www.rarechromo.org/information/Chromosome%20%208/Trisomy%208%20Mosaicism%20FTNW.pdf.
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