Human Genomics in Global Health

WHO's Human Genetics areas of work

Craniofacial anomalies

Craniofacial Anomalies (CFA) affect a significant proportion of the global society. Cleft lip and/or palate, for example, occurs in approximately 1 per 500-700 births varying considerably across geographic areas or ethic groups. The costs incurred from CFA in terms of morbidity, health care, social and employment exclusion, are considerable for affected individuals, their families and society. It is estimated that 80% of orofacial clefts are nonsyndromic and of multifactorial origin, both genetic and environmental, the latter being especially important in prevention.

Current research regarding CFA falls into three related areas – etiology, prevention, and treatment. Unfortunately, much of this research is being conducted independently, with little evidence of a coherent global strategy. One way to avoid it is to achieve broader coverage of priority research needs by bringing together international researchers through collaborative partnerships, and to develop global consensus on CFA research directions and common research protocols.

Thus the main objectives of CFA Project are to develop an international network for consensus building, planning and protocol development for international collaborative biomedical, epidemiological and behavioural studies in these core areas of CFA research, and to create a directory of CFA research resources and a publicly-accessible internet-based research database.