Orpha Number: 1837
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 hip bone |
Abnormality of the hips
|
0003272 |
| Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
| Abnormality of the ulna | 0002997 | |
| Aplasia/Hypoplasia of the radius | 0006501 | |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| 30%-79% of people have these symptoms | ||
| Abnormal form of the vertebral bodies | 0003312 | |
| Abnormality of fibula morphology |
Abnormality of the calf bone
|
0002991 |
| Abnormality of the metacarpal bones |
Abnormality of the long bone of hand
|
0001163 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| 5%-29% of people have these symptoms | ||
| Abnormality of the voice |
Voice abnormality
|
0001608 |
| Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ]
|
0000457 |
| Microdontia |
Decreased width of tooth
|
0000691 |
| Nephrolithiasis |
Kidney stones
|
0000787 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the vertebral column |
Abnormal spine
Abnormal vertebral column
Abnormality of the spine
[ more ]
|
0000925 |
| 0000006 | ||
| Coxa valga | 0002673 | |
| Hypercalcemia |
High blood calcium levels
Increased calcium in blood
[ more ]
|
0003072 |
| Wrist pain | 0030836 | |
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.
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.
NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
