|Signs and Symptoms||Approximate number of patients (when available)|
|Accelerated skeletal maturation||-|
|Autosomal recessive inheritance||-|
|Cystic angiomatosis of bone||-|
|Decreased serum leptin||-|
|Generalized muscular appearance from birth||-|
|Insulin-resistant diabetes mellitus at puberty||-|
|Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic)||-|
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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