Researchers at Oxford University have identified the first specific genetic mutation, which can cause a potentially serious facial disfigurement.
The finding, published online in the American Journal of Human Genetics, promises improved genetic counselling for parents at risk.
"This finding is very important from the point of view of genetic counselling and offers hope to those families considered to be at risk," Professor Wilkie, research team leader said.
"For example, by correctly diagnosing the condition in an adult, we can reassure them that their children are unlikely be affected," he added.
Formation of the human face is a complex and exquisitely orchestrated developmental process that occurs between four and eight weeks of embryonic development.
Disturbance to this development can lead to malformations of the head and face, including abnormal nasal configuration, cleft lip, and widely spaced eyes.
Most cases of disfigurement are caused by damage to the developing embryo early in pregnancy and genetic causes are thought to be responsible for only a minority of cases, which also involve other parts of the body.
No mutation of a single gene has previously been identified that leads specifically to facial malformations.
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