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Information on the 11/22 translocation and
Emanuel Syndrome
Sponsored by Chromosome 22 Central

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Some of our children, as mentioned previously, appear to resemble each other, and often are labeled by medical professionals as being “dysmorphic”. This term can be upsetting to parents, but basically is just a medical way of suggesting the presence of a genetic syndrome.  Some of our children have deep set eyes, lower set ears, and a longer upper lip (referred to as “philtrum”). Many of our children have smaller feet. Our children also seem to have longer, tapering fingers. When we did our study in 2009, a specialist who looks at the differences in children with genetic conditions was unable to pinpoint a specific “look” for our children, however most of the parents in our group are able to see the similarities.   We find it quite remarkable to see how much some of our children look alike.

Children with Emanuel Syndrome


What are some of the common problems children with ES have at birth?

Many of our children have difficulties immediately following birth, and often, they are kept in the hospital for an extended period of time. Some of the most common reasons our children have been kept in the hospital following birth were because of complications related to hypotonia, problems with feeding, requiring surgery, requiring oxygen therapy, or jaundice. Other problems that have been seen include seizures, infection, or problems with breathing.

Despite the fact that some of our children have had difficulties with feeding after birth, some mothers have successfully breastfed their children.

What are children with ES like?

Some of our members wanted to tell other parents, that above all, it is possible for our children to have a meaningful, happy life. They are happy; they will smile, giggle, show affection, and feel loved, like any other child. Often, when a parent receives the diagnosis, they are not given a very human picture of what it will be like to parent their child beyond what to expect medically or developmentally. Yes, it will be difficult. Yes, your child will face challenges, but they will also just love being your baby and you will love them. Some of our parents have felt that when given the diagnosis they are painted a very grave picture of what their children’s lives will be like. We want to give you the peace of mind that our children are very much loved, feel love and express love. They will learn at their own pace and bring joy to their families.