Timothy Syndrome (TS)
摘要
Timothy syndrome (TS) is a rare genetic disorder that primarily affects the heart but can also impact multiple organ systems due to its diverse phenotypic expressions (Reichenbach et al. 1992; Splawski et al. 2004). The condition is characterized by a prolonged QT interval, syndactyly, and neurodevelopmental delays, although some patients may present solely with cardiac dysfunction. Initially identified in a cohort of five (three males and two females) displaying long QT syndrome alongside syndactyly, subsequent studies have revealed additional cases with severe manifestations, including dental abnormalities and congenital baldness (Marks et al. 1995a, b). The syndrome was formally recognized in 2004 following earlier observations by Reichenbach et al. in 1992, which documented an infant born in the 36th week of gestation with second-degree atrioventricular block and long QT interval (Reichenbach et al. 1992; Splawski et al. 2004). Furthermore, familial patterns of syndactyly and long QT intervals were shown in this infant history. Some studies also noted associations between this syndrome and autism spectrum disorder as well as specific dysmorphic facial features (Splawski et al. 2004). TS is extremely rare, with fewer than 100 documented cases globally, and symptoms typically present in the neonatal or antenatal period, leading to early mortality in affected children.