Genetics of Craniofacial Disorders

Human Genome Research

Investigators

Abstract

A study of the complex genetics of craniofacial development has been undertaken with an emphasis on those genes that cause particular morphogenetic changes involving the cranial sutures and soft tissues of the face. These malformations can result from either environmental or genetic causes. The aim of these investigations is to determine the genes responsible for both normal and abnormal development through the study of patients with craniofacial anomalies. Mutations in a number of genes have been identified that are thought to be responsible for craniofacial development. It the aim of this protocol to extend our understanding of these developmental processes through the study of patients with abnormal craniofacial development.