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
Death of bone due to decreased blood supply
Recurrent joint dislocations[ more ]
Increased size of skull
Large head circumference[ more ]
Lower jaw bone infection
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|
Low number of red blood cells or hemoglobin
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 ]
Too much cerebrospinal fluid in the brain
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|
Signs and symptoms begin before 15 years of age
Harder, denser, fracture-prone bones
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.
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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.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes other subtypes of osteopetrosis, fluorosis, beryllium, lead and bismuth poisoning, myelofibrosis, Paget's disease (sclerosing form) and malignancies (lymphoma, osteoblastic cancer metastases) (see these terms).
Visit the Orphanet disease page for more information.
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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