A young boy with Emanuel Syndrome smiles with his hands rested on his chin.

Commonly Asked Questions

How common are balanced 11;22 translocations and Emanuel syndrome?

Balanced translocations have been estimated to occur in approximately 1 in 500 people; however, it is the t(11;22) translocation that is known to be the most common reciprocal translocation in humans. The prevalence of the t(11;22) translocation in the human population is not truly known, which one researcher attributes to the lack of large-scale chromosomal studies on healthy individuals (Ohye, 2014).

Reciprocal translocations happen when part of one chromosome changes parts with another chromosome and are typically “balanced” in that nothing is missing or added. Parents with a balanced translocation can have children with an unbalanced translocation. In the case of the t(11;22), it results in a child having an extra derivative chromosome made up of parts of 11 and 22 together.

Here is a short video that explains reciprocal translocations from UCD Medicine:

While the t(11;22) translocation itself is considered to be relatively common, there are not so many children known in the world with the unbalanced version, known since 2004 as Emanuel syndrome. Between published cases and members of our group, we know of about 1000 people with ES.

A paper on the theoretical prevalence of Emanuel syndrome from a group of Japanese researchers suggested it may occur in 1 out of every 110,000 births, but we really do not know how many people with ES are living in the world (Ohye, 2014). Our group knows of several hundred people, and we know that there are several hundred cases noted in medical journals. Emanuel syndrome is considered a rare disorder.

What are children with Emanuel Syndrome 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 hears their child has a diagnosis of Emanuel syndrome, 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 some days. Your child will face challenges, but they will also just love being your child and you will love them. Some of our parents have felt that when given the diagnosis they were offered a very grave picture of the future. 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, will bring joy to their families, and have lives worth living.

Do children with Emanuel Syndrome have a common appearance?

Some of our children appear to resemble each other, and often are labelled 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”) which may give many of them a common appearance. 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 these similarities. We find it quite remarkable to see how many of our children look alike. In fact, photo recognition technology can even help diagnose ES (Liehr et. al,, 2017).

What is the life expectancy for a person with Emanuel Syndrome?

This is one question often asked by new families because sometimes, they are given a limited picture for their child’s future. It is not an easy question to answer, but it often will have to do with what kinds of medical issues your child may face. It is true that some of our children have passed away in early life or even before they were born, especially if they faced life-threatening medical issues such as severe heart defects or congenital diaphragmatic hernias.

We cannot predict how long your child may live, but we can state that we are aware of people who have Emanuel Syndrome who are in early and mid-adulthood. At the present, we know of people with Emanuel syndrome living more than 50 years.

A young woman with Emanuel Syndrome smiles at the camera. — This picture is Jillian, who is 30 years old.

We have several families of adults living with ES in our online support group. Based on the fact that genetic testing was not very common many years ago, it is impossible for us to say that there are no older cases that we may not be aware of. They may have been given a different name for the diagnosis many years ago and are not aware of the change in name. We now know that long-term survival for people living with ES is possible.

A young boy with Emanuel Syndrome is on a boat and looks over at the camera. Water and mountains are in the background.

Why are some children differently affected than others, both medically and developmentally?

It is not yet possible for us to know why some children will present with certain medical problems or birth defects, while others do not, or why some will learn to speak and walk, and others not. As with any syndrome, or even just people in general, there is a wide spectrum. Most people will fall somewhere in the middle. There will be some that do very well, and others, not so well. Just like in our society – we have some people who can be exceptionally gifted and others with learning disabilities, even with a normal complement of chromosomes.

References:

Ohye, T., Inagaki, H., Kato, T., Tsutsumi, M., & Kurahashi, H. (2014). Prevalence of Emanuel syndrome: theoretical frequency and surveillance result. Pediatrics International: Official Journal of the Japan Pediatric Society, 56(4), 462–466. https://doi.org/10.1111/ped.12437

Learn More: Life Stages, Care and Treatment, Contact Us, or Download the Emanuel Syndrome Infographic