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 the ankles | 0003028 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Tarsal synostosis |
Fused ankle bones
|
0008368 |
| 30%-79% of people have these symptoms | ||
| Carpal synostosis | 0009702 | |
| Proximal symphalangism of hands |
Fused innermost hinge joints
|
0006152 |
| Radial deviation of finger | 0009466 | |
| Short 1st metacarpal |
Shortened 1st long bone of hand
|
0010034 |
| 5%-29% of people have these symptoms | ||
| Cubitus valgus |
Outward turned elbows
|
0002967 |
| Distal symphalangism of hands |
Fused outermost bones of hand
|
0001204 |
| Humeroradial synostosis |
Fusion of upper and lower arm bones
|
0003041 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
|
Short fingers or toes
|
0001156 | |
| Clinodactyly |
Permanent curving of the finger
|
0030084 |
| Progressive fusion 2nd-5th pip joints | 0006147 | |
| Short finger |
Stubby finger
|
0009381 |
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.
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
|
|---|
|
Tarsal-carpal coalition syndrome can be distinguished from multiple synostoses syndrome and proximal symphalangism (see these terms) by the absence of hearing loss.
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.
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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Where can I find a doctor for tarsal carpal coalition syndrome in Mississippi or Alabama? See answer
