Introduction to genetics for otorhinolaryngology nurses

Advances in human genetics have led to considerable changes in the way health professionals, especially nurses, understand and care for their patients. This article is focused on the clinical implications of genetic aspects of conditions of the head and neck, written for otorhinolaryngology (ORL) and head-neck nurses, but relevant for other nurses as well. This article presents information about basic inheritance patterns (autosomal dominant and recessive, X-linked, and mitochondrial) and compares single-gene disorders to complex or mutifactorial diseases. Cleft lip and palate disorders (Robin sequence and Van der Woude syndrome) and other craniofacial conditions (craniosynostosis, Treacher-Collins syndrome, and velo-cardio-facial syndrome) are discussed along with non-syndromic and syndromic hearing loss. Discussion of the psychosocial aspects of genetic conditions of the head and neck and a glossary of genetic terms are included.