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Disease Profile
Tetrasomy 9p
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.
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Age of onset
Antenatal
ICD-10
Q99.8
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)
Chromosome 9p tetrasomy; Tetrasomy of short arm of chromosome 9; Mosaic tetrasomy 9p
Categories
Chromosome Disorders; Congenital and Genetic Diseases
Summary
Orpha Number: 3310
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.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
30%-79% of people have these symptoms | ||
Abnormality of earlobe |
Abnormal earlobe
Abnormality of ear lobe
[ more ] |
0000363 |
Amblyopia |
Lazy eye
Wandering eye
[ more ] |
0000646 |
Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ] |
0000490 |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Global |
0001263 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Large beaked nose | 0003683 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
Pilomatrixoma | 0030434 | |
5%-29% of people have these symptoms | ||
Abnormal chorioretinal morphology | 0000532 | |
Abnormal mitral valve morphology | 0001633 | |
Abnormal number of permanent teeth |
Abnormal number of adult teeth
|
0011044 |
Abnormality of the spinal cord | 0002143 | |
Absent gallbladder | 0011467 | |
Aplasia/Hypoplasia of the clavicles |
Absent/small collarbone
Absent/underdeveloped collarbone
[ more ] |
0006710 |
Joint inflammation
|
0001369 | |
Bifid uvula | 0000193 | |
Bilateral single transverse palmar creases | 0007598 | |
Biliary atresia | 0005912 | |
Bulbous nose | 0000414 | |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Dandy-Walker malformation | 0001305 | |
Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ] |
0000678 |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ] |
0002714 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Exotropia |
Outward facing eye ball
|
0000577 |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Glue ear | 0040262 | |
Hemihypertrophy |
Asymmetric overgrowth
|
0001528 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hydronephrosis | 0000126 | |
Hypoplastic scapulae |
Small shoulder blade
|
0000882 |
Infertility | 0000789 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Yellow skin
Yellowing of the skin
[ more ] |
0000952 | |
Joint dislocation |
Joint dislocations
Recurrent joint dislocations
[ more ] |
0001373 |
Large fontanelles |
Wide fontanelles
|
0000239 |
Median |
Central cleft lip and palate
Midline cleft lip/palate
[ more ] |
0008501 |
Missing ribs |
Absent ribs
Decreased rib number
[ more ] |
0000921 |
Multiple renal cysts |
Multiple kidney cysts
|
0005562 |
Myositis |
Muscle inflammation
|
0100614 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Oligospermia |
Low sperm count
|
0000798 |
Pachygyria |
Fewer and broader ridges in brain
|
0001302 |
Pericarditis |
Swelling or irritation of membrane around heart
|
0001701 |
Polymicrogyria |
More grooves in brain
|
0002126 |
Raynaud phenomenon | 0030880 | |
Recurrent urinary tract infections |
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ] |
0000010 |
Renal dysplasia | 0000110 | |
Sacral dimple |
Spinal dimple
|
0000960 |
0001250 | ||
Short neck |
Decreased length of neck
|
0000470 |
Small hand |
OrganizationsSupport 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
Learn moreThese 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
In-Depth Information
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