Loeys-Dietz syndrome
The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement.
Patients assigned to Loeys-Dietz syndrome type 2 category (LDS2s) have no cleft palate, craniosynostosis, or hypertelorism as seen in Loeys-Dietz syndrome type 1 (LDS1), although some have isolated bifid uvula.
Etiology
germline mutations of TGFBR2 in Loeys-Dietz syndrome type 2 (LDS2B)(MIM.610380)