Craniofacial Anomalies: Overview and Resources

The word craniofacial is derived from the word cranio, referring to the skull or cranium, and facial, referring to the face. Anomaly is a medical term meaning "irregularity" or "different from normal." Craniofacial anomalies (CFA) are a group of deformities involving the growth of the head and facial bones. These anomalies are congenital (present at birth) and vary in type and severity.

Experts agree that many factors contribute to the development of craniofacial anomalies. Some craniofacial anomalies are a result of genetic mutations (multiple genes are inherited from both parents). Other craniofacial anomalies may be a result of environmental factors, which scientists do not completely understand.

Research studies continue to focus on the normal gene and how a genetic mutation results in different anomalies. New methods of gene therapy are currently being developed.

Over the past several years, plastic and craniofacial surgeons have developed new surgical techniques and interventions for the care of the child with a craniofacial anomaly. Children with craniofacial anomalies often have multiple problems that require the expertise of a multidisciplinary team. The multidisciplinary team provides for the medical, physical, and psychosocial needs of the child and the family.