|Signs and Symptoms||Approximate number of patients (when available)|
|Camptodactyly of finger||90%|
|Sudden cardiac death||90%|
|Abnormality of the palate||50%|
|Limitation of joint mobility||50%|
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.