Dysmorphology

Dysmorphology refers to alterations of 'normal' or typical morphology that can be observed and/or measured in a population. Features that lie outside of the normal range of phenotypic variation often define birth defects and syndromes. The importance of dysmorphology to clinical genetics developed in the 1950s from the work of a small group of clinicians that recognized the need to assemble an organized catalog of dysmorphic features when defining genetically caused disease. Their goal was to define, diagnose, and further investigate birth defects and syndromes and to provide counseling to affected individuals and their families. The modern study of dysmorphology is not limited to clinical care, but is used in developmental biology, molecular genetics, and metabolic medicine, where the phenotypic effects of genetic insults engineered in model organisms to parallel the human condition are interpreted in part by observation and measurement of dysmorphic features.