Orpha Number: 417
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|
|Abnormal calcium-phosphate regulating
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
|Abnormality of the thyroid gland||
High urine amino acid levels
Increased levels of animo acids in urine[ more ]
Low or weak muscle tone
Low chest circumference
Narrow shoulders[ more ]
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures[ more ]
Decreased body height
Small stature[ more ]
Increased spleen size
|Percent of people who have these symptoms is not available through HPO|
Low number of red blood cells or hemoglobin
Calcium buildup in soft tissues of body
|Elevated circulating parathyroid hormone level||0003165|
|Failure to thrive||
Weight faltering[ more ]
|Feeding difficulties in infancy||0008872|
Decreased muscle tone
Low muscle tone[ more ]
High blood calcium levels
Increased calcium in blood[ more ]
Elevated urine calcium levels
High urine phosphate levels
Low blood phosphate level
Irregular wide portion of a long bone
Increased urine output
Increased respiratory rate or depth of breathing
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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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