Definition of Birth defects, study of

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Birth defects, study of: The study of birth defects is now usually called dysmorphology.

Dysmorphology is a term coined by Dr. David W. Smith in the 1960's to describe the study of human congenital malformations (birth defects), particularly those affecting the morphology (the anatomy) of the individual. Dysmorphology literally mean, "the study of abnormal form."

A pediatrician, endocrinologist, embryologist and clinical geneticist himself, David Smith (1926-1981) was the seminal figure in the development of dysmorphology as an interdisciplinary area of medicine.

"As a scientific discipline, dysmorphology combines concepts, knowledge, and techniques from the fields of embryology, clinical genetics and pediatrics," Dr. Jon Aase, one of Dr. Smith's former students, has noted. "As a medical subspecialty, dysmorphology deals with people who have congenital abnormalities and with their families. Whenever any physician is confronted by a patient with a birth defect, he or she becomes, for the moment at least, a dysmorphologist." (JM Aase: Diagnostic Dysmorphology, 1990, Plenum, New York).