Orpha Number: 93406
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 | ||
| Metacarpal synostosis |
Fused long bones of hand
|
0009701 |
| Metatarsal synostosis |
Fusion of the long bones of the feet
|
0001440 |
| Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
| Ulnar deviation of finger |
Finger bends toward pinky
|
0009465 |
| 30%-79% of people have these symptoms | ||
| 2-3 toe |
Webbed 2nd and 3rd toes
|
0004691 |
| 3-4 finger syndactyly |
Webbed 3rd-4th fingers
|
0006097 |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| 5%-29% of people have these symptoms | ||
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Percent of people who have these symptoms is not available through HPO | ||
| 3-4 toe syndactyly |
Webbed 3rd-4th toes
|
0009779 |
| 4-5 toe syndactyly |
Webbed 4th-5th toes
|
0004692 |
| Absent distal interphalangeal creases | 0001032 | |
| 0000006 | ||
|
Short fingers or toes
|
0001156 | |
| Carpal synostosis | 0009702 | |
| Cutaneous finger syndactyly |
Webbed fingers
Webbed skin of fingers
[ more ]
|
0010554 |
| Enlarged proximal interphalangeal joints |
Enlarged innermost hinge joint
|
0006185 |
| Fused fourth and fifth metacarpals |
Fused 4th-5th long bones of hand
|
0005867 |
| Joint |
0009473 | |
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.
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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