Source: Anna Cereda M.D and John C Carey M.D Orphanet Journal of Rare Diseases
Definition
The trisomy 18 syndrome, also known as Edwards syndrome, is a common autosomal chromosomal
disorder due to the presence of an extra chromosome 18. The first reported infants
were described in 1960 by Edwards et al. and Smith et al.
[1,2]. The syndrome pattern comprises a recognizable pattern of major and minor anomalies,
an increased risk of neonatal and infant mortality, and significant psychomotor and
cognitive disability.