Human Genomics in Global Health

International Collaborative Research on Craniofacial Anomalies

Craniofacial anomalies (CFA) are a highly diverse group of complex congenital anomalies. Collectively, they affect a significant proportion of the world. Cleft lip and/or palate, for example, occurs in approximately 1 per 500-700 births, the ratio varying considerably across geographic areas or ethnic groupings. The costs incurred from CFA in terms of morbidity, health care, emotional disturbance, and 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.

In 2000, the WHO Human Genetics Programme, with the financial support of the United States National Institute of Dental and Craniofacial Research, launched a five-year project designed to implement an international research strategy on craniofacial anomalies. The goal of the International Collaborative Research on Craniofacial Anomalies project is to reduce duplication of efforts and 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.

Related Resources
WHO Image library
International collaborative research on craniofacial anomalies project
Global Alert Global Response
International Database on Craniofacial Anomalies (IDCFA)
WHO Image library
CFA Directory of Resources


International Centre for Birth Defects

International Centre for Birth Defects (ICBD) is the coordinating centre of the International Clearinghouse for Birth Defects Monitoring Systems (ICBDMS). The ICBD collects and analyses data from ICBDMS registries to systematically monitor congenital malformations. Results are disseminated in quarterly and annual reports. The ICBD also promotes and manages several collaborative studies of congenital malformations, ranging from epidemiologic studies on selected malformations, to the evaluation of prevention policies across countries, to the study of genetic and environmental determinants of folate status and their relationship to the occurrence of congenital malformations.


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