|Signs and Symptoms||Approximate number of patients (when available)|
|Ascending aortic aneurysm||90%|
|Abnormality of the sternum||75%|
|Generalized arterial tortuosity||75%|
|Ascending aortic dissection||50%|
|Patent ductus arteriosus||35%|
|Joint contracture of the hand||33%|
|Atria septal defect||22%|
|Disproportionate tall stature||7.5%|
|Bicuspid pulmonary valve||5%|
|Autosomal dominant inheritance||-|
|Bicuspid aortic valve||-|
|Descending aortic aneurysm||-|
|Mitral valve prolapse||-|
|Postaxial hand polydactyly||-|
|Pulmonary artery aneurysm||-|
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.
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.