I have a 13 year old son with this malformation. We do not know were the genetic material comes from, but we recognized some of the symptoms of Jess Anderson. Including the form of the eyebrows. Our son is autonomous with toilet. Speaks very little and it is difficult to understand but has developed a sort of primitive sort of communication. Needs glasses, he has hypermetropy, but the thing with the eyes started with strbismus intermitentis. He does not have academic learning capacities but learns other things like warming milk in the microwave. I do not know of any other cases in Portugal.