An electronic atlas of human malformation syndromes in diverse populations

Birth defects remain a leading cause of infant mortality and childhood morbidity worldwide. As laboratory sequencing technologies become more available, recognition of malformation syndromes will become increasingly important. Most clinicians have been trained with clinical genetic resources that used patients of northern European descent as the standard of reference. The most well-known textbook of dysmorphology, Smith’s Recognizable Patterns of Human Malformation, shows predominantly Caucasian patients.