Loeys–Dietz Syndrome Type V
Subtype that can appear milder but still has serious vascular risks
Overview
Type V often presents with subtle or mild physical signs, but serious vascular complications may still occur.
Common Symptoms
- Hidden or delayed vascular issues
- Possible joint hypermobility
- Mild skeletal or skin findings
Genetics
Caused by mutations in the TGFB3 gene, which also plays a role in connective tissue and development.
Management
Early detection is important, especially for vascular monitoring. Some individuals may show symptoms later in life.
Download: LDS Type V Research (DOCX)