The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Bilateral radial aplasia | Obligate (present in 100% of cases) |
| Abnormality of coagulation | Very frequent (present in 80%-99% of cases) |
| Absent radius | Very frequent (present in 80%-99% of cases) |
| Aplasia/Hypoplasia of the ulna | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Adducted thumb | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Aplasia/hypoplasia of the humerus | Frequent (present in 30%-79% of cases) |
| Aplasia/Hypoplasia of the patella | Frequent (present in 30%-79% of cases) |
| Broad forehead | Frequent (present in 30%-79% of cases) |
| Broad thumb | Frequent (present in 30%-79% of cases) |
| Clinodactyly of the 5th finger | Frequent (present in 30%-79% of cases) |
| Cow milk allergy | Frequent (present in 30%-79% of cases) |
| Coxa valga | Frequent (present in 30%-79% of cases) |
| Eosinophilia | Frequent (present in 30%-79% of cases) |
| Genu varum | Frequent (present in 30%-79% of cases) |
| High forehead | Frequent (present in 30%-79% of cases) |
| Hip dislocation | Frequent (present in 30%-79% of cases) |
| Low-set, posteriorly rotated ears | Frequent (present in 30%-79% of cases) |
| Patellar aplasia | Frequent (present in 30%-79% of cases) |
| Patellar dislocation | Frequent (present in 30%-79% of cases) |
| Tibial torsion | Frequent (present in 30%-79% of cases) |
| Abnormality of the cardiac septa | Occasional (present in 5%-29% of cases) |
| Abnormality of the shoulder | Occasional (present in 5%-29% of cases) |
| Aplasia of the uterus | Occasional (present in 5%-29% of cases) |
| Axial malrotation of the kidney | Occasional (present in 5%-29% of cases) |
| Carpal bone hypoplasia | Occasional (present in 5%-29% of cases) |
| Cavum septum pellucidum | Occasional (present in 5%-29% of cases) |
| Cerebellar hypoplasia | Occasional (present in 5%-29% of cases) |
| Cervical ribs | Occasional (present in 5%-29% of cases) |
| Coarctation of aorta | Occasional (present in 5%-29% of cases) |
| Delayed |
Occasional (present in 5%-29% of cases) |
| Edema of the dorsum of feet | Occasional (present in 5%-29% of cases) |
| Edema of the dorsum of hands | Occasional (present in 5%-29% of cases) |
| Fibular aplasia | Occasional (present in 5%-29% of cases) |
| Finger |
Occasional (present in 5%-29% of cases) |
| Fused cervical vertebrae | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Horseshoe kidney | Occasional (present in 5%-29% of cases) |
| Lateral clavicle hook | Occasional (present in 5%-29% of cases) |
| Malar flattening | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Nevus flammeus of the forehead | Occasional (present in 5%-29% of cases) |
| Phocomelia | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Occasional (present in 5%-29% of cases) |
|
| Sensorineural hearing impairment | Occasional (present in 5%-29% of cases) |
| Short phalanx of finger | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Talipes equinovarus | Occasional (present in 5%-29% of cases) |
| Tetralogy of Fallot | Occasional (present in 5%-29% of cases) |
| Death in infancy | Very rare (present in 1%-4% of cases) |
| Anteverted nares | - |
| Atrial septal defect | - |
| - | |
| Brachycephaly | - |
| Carpal synostosis | - |
| Decreased |
- |
| - | |
| Meckel diverticulum | - |
| Motor delay | - |
| Pancreatic cysts | - |
| Seborrheic dermatitis | - |
| - | |
| Shoulder muscle hypoplasia | - |
| Spina bifida | - |
| Ventricular septal defect | - |
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.
The 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.
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
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Young Investigator Initiative Career Development and Grant Mentoring Program
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Has TAR syndrome been associated with white cell abnormalities in the bone marrow? What about cancer? See answer
