Loeys-Dietz syndrome 1
A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones.
MONDO:0018954
Loeys-Dietz syndrome
is_a
Furlong syndrome
exact
LDS1
related
Loeys-Dietz syndrome 1
exact
Loeys-Dietz syndrome caused by mutation in TGFBR1
exact
Loeys-Dietz syndrome type 1
exact
TGFBR1 Loeys-Dietz syndrome
exact