Geneticists Solve Mystery Of EEC Syndrome's Variable Severity In Children

By identifying a protein that acts as a genetic modifier, scientists at Cold Spring Harbor Laboratory (CSHL) have solved the mystery of why some infants are born with a grave syndrome consisting of cleft palate and major deformities of the skin and limbs, while other infants bearing the same predisposing genetic mutation bear little or no sign of the illness, called EEC. EEC stands for "Ectodactyly, Ectodermal dysplasia, Clefting syndrome." It is rare in its full-blown form, although individual aspects of the associated pathology, such as cleft palate, are more common...
Source: Health News from Medical News Today - Category: Consumer Health News Tags: Cleft Palate Source Type: news