Orpha Number: 2741
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 bone mineral density | 0004348 | |
| Aplasia/Hypoplasia of the radius | 0006501 | |
| Blindness | 0000618 | |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Corneal opacity | 0007957 | |
| Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ]
|
0003042 |
| Lateral humeral condyle aplasia | 0006441 | |
| Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ]
|
0001376 |
| Mesomelia |
Disproportionately short middle portion of limb
|
0003027 |
| Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
| Obtuse angle of mandible | 0005446 | |
| Radioulnar dislocation | 0006439 | |
| Radioulnar synostosis |
Fused forearm bones
|
0002974 |
| Symphalangism affecting the phalanges of the hand |
Fused finger bones of the hand
|
0009773 |
| Synostosis of carpal bones |
Fusion of wrist bones
|
0005048 |
| Temporomandibular joint ankylosis |
Freezing of jaw joint
|
0012478 |
| Ulnar deviated club hands | 0006055 | |
| 5%-29% of people have these symptoms | ||
| 0000501 | ||
| Megalocornea |
Enlarged cornea
|
0000485 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the thorax |
Abnormality of the chest
|
0000765 |
| 0000006 | ||
| Coxa valga | 0002673 | |
| Decreased mobility 3rd-5th fingers | 0006169 | |
| Fibular hypoplasia |
Short calf bone
|
0003038 |
| Opacification of the corneal stroma | 0007759 | |
| Radial bowing |
Bowing of outer large bone of the forearm
|
0002986 |
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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