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 cortical bone morphology||0003103|
|Abnormal pelvis bone ossification||0009106|
|Abnormality of the ribs||
|Abnormality of vertebral epiphysis morphology||
Abnormal shape of the end part of the vertebra bone
|Abnormality of vision||
Abnormality of sight
Vision issue[ more ]
|Cranial nerve paralysis||0006824|
Retarded growth[ more ]
Hearing defect[ more ]
Low blood calcium levels
Low blood phosphate level
Swollen lymph nodes
Increased size of skull
Large head circumference[ more ]
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures[ more ]
|Reduced bone mineral density||0004349|
|Sandwich appearance of vertebral bodies||0004618|
|Sclerotic vertebral endplates||0004576|
|30%-79% of people have these symptoms|
Easy bruising[ more ]
Decreased immune function
Elevated white blood count
High white blood count
Increased blood leukocyte number[ more ]
|Persistence of primary teeth||
Delayed loss of baby teeth
Failure to lose baby teeth
Retained baby teeth[ more ]
|5%-29% of people have these symptoms|
|Abnormal chorioretinal morphology||0000532|
|Abnormal pulmonary valve morphology||0001641|
|Bone marrow hypocellularity||
Bone marrow failure
Tooth decay[ more ]
Mental retardation, nonspecific
Mental-retardation[ more ]
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent lower jaw[ more ]
Degenerative joint disease
|Renal tubular acidosis||0001947|
Increased spleen size
Low platelet count
The genes associated with osteopetrosis are involved in the development and/or function of osteoclasts,
In pediatric (childhood) osteopetrosis, surgery is sometimes needed because of fractures.
Adult osteopetrosis typically does not require treatment, but complications of the condition may require intervention. Surgery may be needed for aesthetic or functional reasons (such as multiple fractures, deformity, and loss of function), or for severe degenerative joint disease.
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
Can you tell me about nutrition and how to reduce the intensity of osteopetrosis in the future? See answer
I'm 22 years old and have osteopetrosis. I don't know how it happened but I want to know the source and preventive medicines for this. Will it affect my future life and my child? See answer