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Disease Profile
TAR syndrome
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
Neonatal
ICD-10
Q87.2
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)
Thrombocytopenia absent radius syndrome; Absent radii and thrombocytopenia; Thrombocytopenia absent radii
Categories
Blood Diseases; Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
TAR
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
|
|
---|---|---|---|
80%-99% of people have these symptoms | |||
Abnormality of coagulation | 0001928 | ||
Absent radius |
Missing outer large bone of forearm
|
0003974 | |
Aplasia/Hypoplasia of the ulna |
Absence/underdevelopment of inner forearm bone
|
0006495 | |
Low platelet count
|
0001873 | ||
30%-79% of people have these symptoms | |||
Adducted thumb |
Inward turned thumb
|
0001181 | |
Low number of red blood cells or hemoglobin
|
0001903 | ||
Aplasia/hypoplasia of the humerus |
Absent/small long bone in upper arm
Absent/underdeveloped long bone in upper arm
[ more ] |
0006507 | |
Aplasia/Hypoplasia of the patella |
Absent/small kneecap
Absent/underdeveloped kneecap
[ more ] |
0006498 | |
Broad forehead |
Increased width of the forehead
Wide forehead
[ more ] |
0000337 | |
Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ] |
0011304 | |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 | |
Cow milk allergy |
Milk allergy
|
0100327 | |
Coxa valga | 0002673 | ||
Eosinophilia |
High blood eosinophil count
|
0001880 | |
Genu varum |
Outward bow-leggedness
Outward bowing at knees
[ more ] |
0002970 | |
High forehead | 0000348 | ||
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ] |
0002827 | |
Low-set, posteriorly rotated ears | 0000368 | ||
Patellar aplasia |
Absent kneecap
|
0006443 | |
Patellar dislocation |
Dislocated kneecap
|
0002999 | |
Tibial torsion | 0100694 | ||
5%-29% of people have these symptoms | |||
Abnormal cardiac septum morphology | 0001671 | ||
Abnormal shoulder morphology |
Abnormality of the shoulder
|
0003043 | |
Aplasia of the uterus |
Absent uterus
uterus absent
[ more ] |
0000151 | |
Axial malrotation of the kidney | 0004717 | ||
Carpal bone hypoplasia |
Small carpal bones
Small carpals
[ more ] |
0001498 | |
Cavum septum pellucidum | 0002389 | ||
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ] |
0001321 | |
Cervical ribs | 0000891 | ||
Cleft roof of mouth
|
0000175 | ||
Coarctation of aorta |
Narrowing of aorta
Narrowing of the aorta
[ more ] |
0001680 | |
Delayed |
0002188 | ||
Edema of the dorsum of feet | 0012098 | ||
Edema of the dorsum of hands | 0007514 | ||
Fibular aplasia |
Absent calf bone
|
0002990 | |
Finger |
0006101 | ||
Fused cervical vertebrae |
Fused neck
|
0002949 | |
Global |
0001263 | ||
Enlarged liver and spleen
|
0001433 | ||
Horseshoe kidney |
Horseshoe kidneys
|
0000085 | |
Lateral clavicle hook |
Hook-shaped collarbone
|
0000895 | |
Malar flattening |
Zygomatic flattening
|
0000272 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | ||
Nevus flammeus of the forehead |
Port-wine stain on forehead
|
0007413 | |
Phocomelia | 0009829 | ||
Drooping upper eyelid
|
0000508 | ||
0002650 | |||
Sensorineural hearing impairment | 0000407 | ||
Short phalanx of finger |
Short finger bones
|
0009803 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | ||
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 | |
Tetralogy of Fallot | 0001636 | ||
1%-4% of people have these symptoms | |||
Bilateral radial aplasia | 0004977 | ||
Death in infancy |
Infantile death
Lethal in infancy
[ more ] |
0001522 | |
Decreased body height
Small stature
[ more ] |
0004322 | ||
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 | |
Percent of people who have these symptoms is not available through HPO | |||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 | |
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 | |
0000007 | |||
Brachycephaly |
DiagnosisMaking 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
TreatmentThe resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional. Management Guidelines
Related diseasesRelated 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.
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
Social Networking Websites
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
References
Rare Immunology News |