Loeys–Dietz Syndrome Type III
Subtype caused by SMAD3 gene mutations
Overview
Type III features vascular involvement and early-onset osteoarthritis. It may have fewer facial differences.
Common Symptoms
- Arterial aneurysms or dissections
- Severe joint pain or stiffness
- Early osteoarthritis
- Less craniofacial involvement
Genetics
Caused by mutations in the SMAD3 gene, affecting the same TGF-beta signaling pathway as earlier types.
Management
Regular imaging, orthopedic support, and early arthritis treatment are important.
Download: LDS Type III Research (DOCX)