Home > D. Systemic pathology > Genetic and developmental anomalies > Loeys-Dietz syndrome type 2
Loeys-Dietz syndrome type 2
Monday 5 May 2008
The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement.
Patients assigned to the type 2 category (LDS2s) have no cleft palate, craniosynostosis, or hypertelorism as seen in type 1 (LDS1), although some have isolated bifid uvula.
Etiology
germline mutations of TGFBR2 in Loeys-Dietz syndrome type 2 (LDS2B)(MIM.610380)
