Loeys-Dietz Syndrome 4 (LDS4)

Loeys-Dietz Syndrome 4, also known as aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations, is related to loeys-dietz syndrome 1 and scoliosis, and has symptoms including wrist sign and steinberg thumb sign. An important gene associated with Loeys-Dietz Syndrome 4 is TGFB2 (Transforming Growth Factor Beta 2), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include skin and eye, and related phenotypes are joint laxity and ascending tubular aorta aneurysm