Loeys–Dietz Syndrome Type I
Detailed overview of the first known subtype of LDS
Overview
Loeys–Dietz Type I is often identified by features such as widely spaced eyes, cleft palate, and bifid uvula. It also includes aggressive aortic aneurysms and skeletal abnormalities like scoliosis.
Common Symptoms
- Aortic root enlargement
- Hypertelorism (wide-set eyes)
- Cleft palate / bifid uvula
- Scoliosis and joint hypermobility
Genetics
Type I is usually caused by mutations in the TGFBR1 or TGFBR2 genes, which affect the transforming growth factor-beta pathway.
Management
Regular cardiovascular screening, surgical interventions when needed, and physical therapy are part of managing Type I.
Download: LDS Type I Research (DOCX)