Non congenital heart disease aspects of Down's syndrome

Abstract

Down's syndrome is the commonest chromosomal anomaly with an incidence of about 1:700 live births, and is often associated with various congenital anomalies. Moreover an appreciable proportion of health problems (immunological, hematological, etc) are frequently associated with this condition, and for this reason affected individuals benefit greatly from multidisciplinary management. Recent research strongly suggests that Down's syndrome is a contiguous gene syndrome, and it is unlikely that a single Down's syndrome chromosomal region is responsible for the typical phenotypic features. This review presents the most important genetic and medical features.