Genetic syndromes

Abstract

Congenital upper extremity abnormalities are commonly associated with genetic syndromes; accurate identification and diagnosis of a syndrome may dramatically impact medical management for the child and recurrence risk for the family. In this chapter, commonly used genetic terminology and the utility of genetic testing versus referral to a clinical geneticist is reviewed. In addition, common genetic syndromes will be reviewed for specific types of limb abnormalities. After reading this chapter, the orthopedic surgeon should have a better understanding of when to recognize a possible genetic syndrome in a child with an upper extremity abnormality in addition to when to refer to genetics for testing, diagnosis, and counseling.