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 epiphysis morphology||
Abnormal shape of end part of bone
|Abnormality of the metacarpal bones||
Abnormality of the long bone of hand
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
Recurrent joint dislocations[ more ]
Increased size of skull
Large head circumference[ more ]
Degenerative joint disease
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures[ more ]
|Short distal phalanx of finger||
Short outermost finger bone
|30%-79% of people have these symptoms|
Decreased body height
Small stature[ more ]
|5%-29% of people have these symptoms|
|Bone marrow hypocellularity||
Bone marrow failure
Tooth decay[ more ]
Hearing defect[ more ]
Low blood calcium levels
|Percent of people who have these symptoms is not available through HPO|
Abnormal shape of pelvic girdle bone
|Abnormality of the vertebral endplates||0005106|
|Elevated serum acid phosphatase||
Acid phosphatase elevated
|Fractures of the long bones||0003084|
Loss of vision
Vision loss[ more ]
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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Learn more orphan products.
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.
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.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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