Talking Glossary of Genetic Terms
Polydactyly is an abnormality characterized by extra fingers or toes. The condition may be present as part of a collection of abnormalities, or it may exist by itself. When polydactyly exhibits by itself, it is inherited as an autosomal dominant trait.
Polydactyly is a malformation that includes extra fingers or toes. This condition is commonly inherited, and it may be part of a syndrome, that is, a number of other malformations that tend to appear together in the same individual. And it can be inherited, or it can be sporadic or non-genetic.
Name: Leslie G. Biesecker, M.D.
Occupation: Chief and Senior Investigator, Genetic Disease Research Branch; Head, Human Development Section and Physician Scientist Development Program
Biography: Dr. Biesecker's research focuses on the clinical and molecular delineation of human malformation syndromes. Currently, his laboratory is working on two classes of disorders, classic multiple congenital anomaly syndromes and segmental overgrowth disorders. The goals of his research program are to improve the medical care of patients affected by these disorders, provide generalized knowledge about the broad field of birth defects, and better understand basic mechanisms of normal and abnormal human development. Dr. Biesecker's group studies several multiple congenital anomaly syndromes, including Pallister-Hall syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome and Lenz microphthalmia syndrome.