Loeys-Dietz syndrome 2
A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2.
MONDO:0018954
Loeys-Dietz syndrome
is_a
LDS2
related
Loeys-Dietz syndrome 2
exact
Loeys-Dietz syndrome caused by mutation in TGFBR2
exact
Loeys-Dietz syndrome type 2
exact
Loeys-Dietz syndrome type II
exact
TGFBR2 Loeys-Dietz syndrome
exact