Clefting Genetics

Craniofacial anomalies in general and clefts of the lip and/or palate (CLP) particularly, are among the most common human birth defects. These abnormalities require significant surgical, dental, speech and behavioral interventions and impose substantial economic and societal burdens. More than 400 syndromes, chromosomal abnormalities and teratogenic (environmental) exposures are known to result in clefts.

The Phenotype and Genetics in Oral-facial Cleft in Families Study Group was established to do a more intensive research on the genetic aspects of clefting. Findings from the study can be used to improve diagnosis and prevention methods of complex human craniofacial disorders. In order to achieve its objectives, the following strategies will be employed by the study group: 1) Screen individuals affected with cleft lip and palate, first degree relatives and unaffected controls for specific subphenotypes; 2) Study the relationships between subphenotypes and demographic and family variables and; 3) Obtain DNA samples from subjects screened for subphenotypes to enhance gene-gene and gene-environment studies. Around 200 families will be recruited for this endeavor.

This study is in collaboration with the United States Department of Health & Human Services, National Institutes of Health and Craniofacial Anomalies Research Center through Dr. Jeffrey C. Murray.