Types of Loeys–Dietz Syndrome
There are six known types of Loeys–Dietz syndrome (LDS), each linked to different genetic mutations but sharing overlapping symptoms.
Type I
Classic features including aortic aneurysms, widely spaced eyes, cleft palate, and skeletal abnormalities.
Type II
Similar to Type I, but with more skin involvement like velvety or translucent skin and easy bruising.
Type III
Caused by mutations in SMAD3. Often presents with osteoarthritis and arterial aneurysms.
Type IV
Linked to TGFB2 mutations. Less craniofacial involvement, but vascular risks still present.
Type V
Caused by TGFB3 mutations. May appear mild but can still affect blood vessels and joints.
Type VI
The most recently discovered, caused by mutations in SMAD2. Research is ongoing.