Loeys–Dietz Syndrome Type IV
Subtype with less facial or skeletal involvement
Overview
Type IV has fewer external signs like facial or skin features, but vascular risks are still serious and present.
Common Symptoms
- Aneurysms or dissections
- Mild or absent skeletal changes
- Less pronounced facial traits
- Possible joint issues
Genetics
Caused by TGFB2 gene mutations. These alter cell signaling and connective tissue strength.
Management
Continued monitoring for vascular problems is essential even if other signs are not present.
Download: LDS Type IV Research (DOCX)