Extending the Phenotype of Nonsyndromic Orofacial Clefting

This project first began in the late 1990’s.   The overarching goal of this renewal of the on-going project remains consistent, i.e. to incorporate subclinical phenotypic features into etiologic studies of nonsyndromic orofacial clefts (OFCs) in an effort to both improve our understanding of genetic and other risk factors underlying OFCs and to facilitate the translation of this improved understanding to clinical applications. The specific aims for this renewal follow directly from the discoveries of the previous funding periods, i.e. to:  (1)  characterize patterns of subclinical OFC phenotypes in cleft families; (2) uncover the genetic basis of overt forms of OFC; (3) discover the genetic basis of subclinical OFC-related phenotypes. Our previous findings also serve to underscore the fact that different populations/ethnicities as well as different forms of clefting are likely characterized by distinct etiological profiles. Our present proposal aims to address this issue directly by recruiting understudied, yet etiologically informative populations (i.e., Sub-Saharan Africans) and less well understood forms of clefting (i.e. CPO).  We will continue our successful genetic studies in OFC families, incorporating both well-established and novel subclinical phenotypes into formal gene identification approaches.

Subclinical OFC Phenotypes  

3D Facial Imaging

Orbicularis Oris Muscle Imaging

3D Dental Cast Imaging

Lip Dermatoglyphics