Hi, a few months ago Eliezer finally got a confirmed diagnosis of sotos
syndrome. Meir, my husband, and I, then got tested for the same mutation, and we
just got the results back. It showed a negative for each of us. I still think
Meir has a mild case of sotos-like. He is brilliant, and not as tall, or as
delayed, as Eliezer. But he has so many of the same issues, and charachteristics
as Eliezer. I sometimes feel he has more in common with the other children on
this site then Eliezer does.
He is bigger then other kids his age, although it isn't so obvious. He got his
first tooth at four months, crawled at elevn months, walked at twenty two
months. He couldn't eat any solid food until about twenty months. He has
pronated ankles, and therefore wears braces. His speech is still a little
delayed, and he has many fears and obsessions. His latest evaluation puts him
about half a year delayed. He also has very low muscle tone.
His has some of the facial features of sotos, but not all. He resembles lots of
sotos-like kids on this site.
My question is to the parents of sotos-like children.
Does your child have a mutation in the NSD1 gene, or is sotos-like only a
clinical diagnosis?

Thank you,
Rivka