Orpha Number: 157801
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 | ||
| 2-3 toe |
Webbed 2nd and 3rd toes
|
0004691 |
| Aplasia/Hypoplasia of the middle phalanges of the hand |
Absent/small middle finger bone of the hand
Absent/underdeveloped middle finger bone of the hand
[ more ]
|
0009843 |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Finger syndactyly | 0006101 | |
| Metacarpal synostosis |
Fused long bones of hand
|
0009701 |
| Short hallux |
Short big toe
|
0010109 |
| Short palm | 0004279 | |
| Short thumb |
Short thumbs
Small thumbs
[ more ]
|
0009778 |
| Symphalangism affecting the phalanges of the hand |
Fused finger bones of the hand
|
0009773 |
| 30%-79% of people have these symptoms | ||
| Synostosis of carpal bones |
Fusion of wrist bones
|
0005048 |
| Percent of people who have these symptoms is not available through HPO | ||
| 3-4 finger syndactyly |
Webbed 3rd-4th fingers
|
0006097 |
| Aplasia/Hypoplasia of the hallux |
Absent/small big toe
Absent/underdeveloped big toe
[ more ]
|
0008362 |
| Aplasia/Hypoplasia of the middle phalanx of the 2nd finger |
Absent/small middle index finger bone
Absent/underdeveloped middle index finger bone
[ more ]
|
0009568 |
| Aplasia/Hypoplasia of the middle phalanx of the 5th finger |
Absent/small middle bone of pinky finger
Absent/underdeveloped middle bone of little finger
Absent/underdeveloped middle bone of pinkie finger
Absent/underdeveloped middle bone of pinky finger
[ more ]
|
0009161 |
| Aplasia/Hypoplasia of the thumb |
Absent/small thumb
Absent/underdeveloped thumb
[ more ]
|
0009601 |
| 0000007 | ||
| Proximal/middle symphalangism of 5th finger |
Fused innermost and middle bones of little finger
Fused innermost and middle bones of pinkie finger
Fused innermost and middle bones of pinky finger
[ more ]
|
0009177 |
| Single transverse palmar crease | 0000954 | |
| Symphalangism affecting the phalanges of the hallux |
Fused big toe bones
|
0010064 |
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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