Orpha Number: 2591
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||
|80%-99% of people have these symptoms|
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
|Abnormality of the musculature||
Tumor of the skin[ more ]
Firm lump under the skin
Growth of abnormal tissue under the skin[ more ]
|30%-79% of people have these symptoms|
|Abnormal hair morphology||
Abnormality of the hair
Hair abnormality[ more ]
|Abnormal skull morphology||
Abnormality of the skull
|Abnormality of the thorax||
Abnormality of the chest
Calcium deposits in joints
|Neoplasm of the lung||
|5%-29% of people have these symptoms|
|Abnormal sacrum morphology||0005107|
|Abnormality of the eye||
|Abnormality of the kidney||
|Benign neoplasm of the
Paralysis or weakness of one side of body
High blood calcium levels
Increased calcium in blood[ more ]
Intestinal blockage[ more ]
|Limitation of joint mobility||
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion[ more ]
|Neoplasm of the pancreas||
Cancer of the pancreas
Pancreatic tumor[ more ]
Breakdown of bone
Open skin sore
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of connective
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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