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Researchers pinpoint genetic pathway of rare facial malformation in children
Date:5/3/2012

h as craniofacial microsomia, are also caused by genes in this pathway."

ACS, a syndrome first described by scientists in 1978, is believed to affect less than one in 50,000 births, though the precise frequency is not known. It is not uncommon for the condition to be misdiagnosed or for diagnosis to be delayed. According to Dr. Cunningham it was the precision of case choice that allowed this discovery.

Of the five cases studied, two of the parents did not have this condition but were carriers for the mutation. "Now that we know the genetic pathway for ACS, we will be able to better identify and counsel people who have normal facial appearances but carry these genes, about the likelihood of passing on this mutation to their children,'' Dr. Cunningham said.


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Contact: Mary Guiden
mary.guiden@seattlechildrens.org
206-987-7334
Seattle Children's
Source:Eurekalert  

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