Ehlers-Danlos Syndrome

Diagnosis

Diagnosis for the most common form of Ehlers-Danlos syndrome — hypermobility — is based on signs and symptoms, including extremely loose joints and stretchy skin. For other rarer types, doctors may use genetic testing to help clarify the diagnosis. Most genetic testing is done by a blood test; occasionally a skin biopsy may be needed.

Doctors may also order an ultrasound of your heart (echocardiogram) or a CT scan of your heart and major blood vessels to confirm your diagnosis.