Orpha Number: 85182
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 |
|---|---|---|
| 5%-29% of people have these symptoms | ||
| Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ]
|
0000978 |
| Myopathy |
Muscle tissue disease
|
0003198 |
| Premature graying of hair |
Early graying
Premature graying
Premature greying
Premature hair graying
[ more ]
|
0002216 |
| Soft skin | 0000977 | |
| Thin skin | 0000963 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Bowing of the legs |
Bowed legs
Bowed lower limbs
[ more ]
|
0002979 |
| Diaphyseal cortical sclerosis | 0005045 | |
| Fibrosarcoma | 0100244 | |
| Fractures of the long bones | 0003084 | |
| Histiocytoma | 0012315 | |
| Limb muscle weakness |
Limb weakness
|
0003690 |
| Limb-girdle muscle weakness | 0003325 | |
| Metaphyseal striations | 0031367 | |
| Osteomyelitis leading to amputation due to slow healing fractures | 0005010 | |
| Osteopenia | 0000938 | |
| Osteosarcoma |
Bone cell cancer
|
0002669 |
| Patchy osteosclerosis |
Uneven increase in bone density
|
0005686 |
| Pathologic fracture |
Spontaneous fracture
|
0002756 |
| Presenile |
0007819 | |
| Progressive |
Worsens with time
|
0003676 |
| Proximal muscle weakness |
Weakness in muscles of upper arms and upper legs
|
0003701 |
| Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
| Stenosis of the medullary cavity of the long bones | 0100254 | |
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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