Orpha Number: 1802
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 | ||
| Abnormal cortical bone morphology | 0003103 | |
| Abnormal form of the vertebral bodies | 0003312 | |
| Abnormality of femur morphology |
Abnormality of the thighbone
|
0002823 |
| Abnormality of |
0010978 | |
| Abnormality of |
Abnormal shape of pelvic girdle bone
|
0002644 |
| Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
| Abnormality of tibia morphology |
Abnormality of the shankbone
Abnormality of the shinbone
[ more ]
|
0002992 |
|
Low number of red blood cells or hemoglobin
|
0001903 | |
| Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ]
|
0006487 |
| Craniofacial hyperostosis |
Excessive bone growth of the skull and face
|
0004493 |
| Diaphyseal thickening | 0005019 | |
| 5%-29% of people have these symptoms | ||
| Hyperostosis cranialis interna |
Excessive growth of inner surface of the skull bones
Overgrowth of the inner surface of the skull bones
[ more ]
|
0005890 |
| Leukopenia |
Decreased blood leukocyte number
Low white blood cell count
[ more ]
|
0001882 |
| Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ]
|
0002167 |
| Splenomegaly |
Increased spleen size
|
0001744 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Bone marrow hypocellularity |
Bone marrow failure
|
0005528 |
| Diaphyseal dysplasia | 0100252 | |
| Increased bone mineral density |
Increased bone density
|
0011001 |
| Myelofibrosis | 0011974 | |
| Refractory anemia | 0005505 | |
|
Low platelet count
|
0001873 | |
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
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