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There are many ways you can help children and their families get the care they need.
While the word “syndrome” can be a frightening one, it simply refers to a group of symptoms that occur together.
For more information about the causes and symptoms of Loeys-Dietz syndrome, as well as what they mean for your child, read on.
Loeys-Dietz syndrome is a fairly rare genetic condition. Until recently, Loeys-Dietz syndrome was called Marfan syndrome type 2. Only a small percentage of the one in 5,000 to 10,000 children who have Marfan syndrome have this variety.
Loeys-Dietz syndrome is present at birth but, because it can resemble other conditions, it may not be diagnosed immediately.
It’s equally common in boys and girls.
Kids with Loeys-Dietz syndrome have abnormal connective tissue, which can lead to problems in many different parts of the body. Here are some of the major problems a child with Loeys-Dietz syndrome can have:
As part of your child’s ongoing care, your doctor should regularly monitor your child for aneurysms. See the Treatment & Care section for more information.
Loeys-Dietz syndrome is a genetic disorder caused by a mutation (gene change) in one of the genes in charge of the formation of connective tissue that connects and supports other tissues like skin, muscle and bones. It’s sometimes referred to as the “glue” that holds the body together.
Loeys-Dietz syndrome is an autosomal dominant condition, which means that a child need only have one abnormal copy of the responsible gene to have the condition. (Each of us has two copies of each gene, with the exception of genes on the X chromosome in boys.) In about 25 percent of cases, an affected child has inherited a copy of the abnormal gene from an affected parent. In the other 75 percent, the change in the gene has arisen anew in the affected child.
If the parent is found to have the abnormal gene, there is a 50 percent chance that the next child will also have it. If neither parent has the abnormal gene and is unaffected, then the risk to other children is low.
Loeys-Dietz syndrome affects different kids in different ways. Not all children have all the signs and symptoms listed below. Your child’s pediatrician will be best able to determine whether your child should be evaluated by a geneticist for Loeys-Dietz syndrome.
Here are some of the more common signs and symptoms of Loeys-Dietz syndrome, organized by the part of your child’s body they affect:;
Heart and blood vessels
Head and face
An aneurysm is a bulge in the wall of a blood vessel. It’s a problem because the wall is weakened where it is stretched (picture a balloon that’s been overinflated); if the blood pressure becomes too high, the aneurysm can rupture, creating a life-threatening emergency.
You and your family are key players in your child’s medical care. It’s important that you share your observations and ideas with your child’s health care provider and that you understand your provider’s recommendations.
If your child has been diagnosed with Loeys-Dietz syndrome and you’ve set up an appointment, you probably already have some ideas and questions on your mind. But at the appointment, it can be easy to forget the questions you wanted to ask. It’s often helpful to jot them down ahead of time so that you can leave the appointment feeling like you have the information you need.
Some of the questions you may want to ask include:
We understand that you may have a lot of questions when your child is diagnosed with Loeys-Dietz syndrome. How will it affect my child long term? What can we do to treat the symptoms? Will any of the symptoms get better without treatment? We’ve provided some answers to those questions in the following pages, but there are also a number of other resources to help you and your family through this difficult time.
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