Diagnosis involves consideration of physical features and genetic testing. Presence of split uvula is a differentiating characteristic from Marfan Syndrome, as well as the severity of the heart defects.<unk>  patients have more severe heart involvement and it is advised that they be treated for enlarged aorta earlier due to the increased risk of early rupture in<unk><unk>  patients. Because different people express different combinations of symptoms and the syndrome was first identified in 2005, many doctors may not be aware of its existence.
Loeys–Dietz syndrome
Ehlers–Danlos syndromes
Tietz syndrome
Marfan syndrome
Frank–Ter Haar syndrome
Crigler–Najjar syndrome
Letterer–Siwe disease
Wilson–Mikity syndrome