EDWARDS syndrome.

Abstract

Abstract

The study of genetic disorders is a fundamental aspect in the field of medicine due to its enormous influence on development and growth. The purpose of this article is to present updated information exposing the case of a patient diagnosed with Edwards Syndrome; said rare disease is known by the presence of an additional chromosome in pair 18; Phenotypically, it is characterized by short stature, mental retardation and psychomotor development (delay in the acquisition of skills that require coordination of muscular and mental activity), and hypertonia (abnormally high muscle tone). In order to contribute within the medical field about disorders at the chromosomal level and generate possible guidelines aimed at a preventive management against the predisposing factors to cause mutations of this type.