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 | 100% |
| Abnormality of coagulation | 90% |
| Aplasia/Hypoplasia of the ulna | 90% |
| Thrombocytopenia | 90% |
| Clinodactyly of the 5th finger | 75% |
| Cow milk allergy | 75% |
| Coxa valga | 75% |
| Eosinophilia | 75% |
| Genu varum | 75% |
| Hip dislocation | 75% |
| Patellar aplasia | 75% |
| Abnormality of the intestine | 50% |
| Adducted thumb | 50% |
| Aplasia/hypoplasia of the humerus | 50% |
| Broad forehead | 50% |
| Broad thumb | 50% |
| High forehead | 50% |
| Low-set, posteriorly rotated ears | 50% |
| Patellar dislocation | 50% |
| Death in infancy | 40% |
| Anemia | 33% |
| Abnormal localization of kidney | 7.5% |
| Abnormality of the cardiac septa | 7.5% |
| Abnormality of the shoulder | 7.5% |
| Carpal bone hypoplasia | 7.5% |
| Cavum septum pellucidum | 7.5% |
| Cerebellar hypoplasia | 7.5% |
| Delayed CNS myelination | 7.5% |
| Edema of the dorsum of feet | 7.5% |
| Edema of the dorsum of hands | 7.5% |
| Finger syndactyly | 7.5% |
| Hepatosplenomegaly | 7.5% |
| Lateral clavicle hook | 7.5% |
| Malar flattening | 7.5% |
| Nevus flammeus of the forehead | 7.5% |
| Phocomelia | 7.5% |
| Ptosis | 7.5% |
| Scoliosis | 7.5% |
| Sensorineural hearing impairment | 7.5% |
| Short phalanx of finger | 7.5% |
| Strabismus | 7.5% |
| Talipes equinovarus | 7.5% |
| Tetralogy of Fallot | 7.5% |
| Tibial torsion | 7.5% |
| Short stature | 7% |
| Aplasia of the uterus | 5% |
| Axial malrotation of the kidney | 5% |
| Cervical ribs | 5% |
| Coarctation of aorta | 5% |
| Fibular aplasia | 5% |
| Fused cervical vertebrae | 5% |
| Anteverted nares | - |
| Atria septal defect | - |
| Autosomal recessive inheritance | - |
| Brachycephaly | - |
| Carpal synostosis | - |
| Decreased antibody level in blood | - |
| Horseshoe kidney | - |
| Meckel diverticulum | - |
| Motor delay | - |
| Pancreatic cysts | - |
| Seborrheic dermatitis | - |
| Seizures | - |
| 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.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
Has TAR syndrome been associated with white cell abnormalities in the bone marrow? What about cancer? See answer
