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||
|80%-99% of people have these symptoms|
|Abnormality of coagulation||
Abnormal blood clotting
Missing outer large bone of forearm
|Aplasia/Hypoplasia of the ulna||
Absence/underdevelopment of inner forearm bone
Low platelet count
|30%-79% of people have these symptoms|
Inward turned thumb
Low number of red blood cells or hemoglobin
|Aplasia/hypoplasia of the humerus||
Absent/small long bone in upper arm
Absent/underdeveloped long bone in upper arm[ more ]
|Aplasia/Hypoplasia of the patella||
Absent/underdeveloped kneecap[ more ]
Increased width of the forehead
Wide forehead[ more ]
Wide/broad thumb[ more ]
|Clinodactyly of the 5th finger||
Permanent curving of the pinkie finger
|Cow milk allergy||
High blood eosinophil count
Outward bowing at knees[ more ]
Dislocation of hip[ more ]
|Low-set, posteriorly rotated ears||0000368|
|5%-29% of people have these symptoms|
|Abnormal cardiac septum morphology||0001671|
|Abnormality of the shoulder||0003043|
|Aplasia of the uterus||
Absent uterus[ more ]
|Axial malrotation of the kidney||0004717|
|Carpal bone hypoplasia||
Small carpal bones
Small carpals[ more ]
|Cavum septum pellucidum||0002389|
Underdeveloped cerebellum[ more ]
Cleft roof of mouth
|Coarctation of aorta||
Narrowing of aorta
Narrowing of the aorta[ more ]
|Edema of the dorsum of feet||0012098|
|Edema of the dorsum of hands||0007514|
Absent calf bone
|Fused cervical vertebrae||
Enlarged liver and spleen
|Lateral clavicle hook||
Little lower jaw
Small lower jaw[ more ]
|Nevus flammeus of the forehead||
Port-wine stain on forehead
Drooping upper eyelid
Abnormal curving of the spine
|Sensorineural hearing impairment||0000407|
|Short phalanx of finger||
Short finger bones
Squint eyes[ more ]
Clubfoot[ more ]
|Tetralogy of Fallot||0001636|
|1%-4% of people have these symptoms|
|Bilateral radial aplasia||0004977|
|Death in infancy||
Lethal in infancy[ more ]
Decreased body height
Small stature[ more ]
|Ventricular septal defect||
Hole in heart wall separating two lower heart chambers
|Percent of people who have these symptoms is not available through HPO|
Nasal tip, upturned
Upturned nasal tip
Upturned nostrils[ more ]
|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 ]
Short and broad skull
Mental retardation, nonspecific
Mental-retardation[ more ]
|Shoulder muscle hypoplasia||
Underdeveloped shoulder muscle
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.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related 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.
Conditions with similar signs and symptoms from Orphanet
The main differential diagnoses include Holt-Oram syndrome, Roberts syndrome, Fanconi anemia, thalidomide embryopathy and RAPADILINO syndrome (see these terms).
Visit the Orphanet disease page for more information.
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.
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.
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