|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of epiphysis morphology||90%|
|Abnormality of the metacarpal bones||90%|
|Abnormality of the metaphyses||90%|
|Short distal phalanx of finger||90%|
|Abnormality of leukocytes||7.5%|
|Bone marrow hypocellularity||5%|
|Abnormality of pelvic girdle bone morphology||-|
|Abnormality of the vertebral endplates||-|
|Autosomal dominant inheritance||-|
|Elevated serum acid phosphatase||-|
|Fractures of the long bones||-|
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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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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.