|Signs and Symptoms||Approximate number of patients (when available)|
|Autosomal recessive inheritance||-|
|Bowing of the legs||-|
|Elevated plasma pyrophosphate||-|
|Elevated urine pyrophosphate||-|
|Low alkaline phosphatase||-|
|Premature loss of primary teeth||-|
|Skin dimple over apex of long bone angulation||-|
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.
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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.