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Chromosomal and Genetic Conditions

Jeune Syndrome

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What Is Jeune Syndrome?

Jeune syndrome is a rare genetic disorder that affects the way a child’s cartilage and bones develop. It begins before the child is born. Jeune syndrome affects the child's rib cage, pelvis, arms and legs.

Usually, problems with the rib cage cause the most serious health problems for children with Jeune syndrome. Their rib cages (thorax) are smaller and narrower than usual. This can keep the child's lungs from developing fully or expanding when the child inhales. The child may breathe rapidly and shallowly. They may have trouble breathing when they have an upper or lower respiratory infection, like pneumonia.

Breathing trouble can range from mild to severe. In some children, it’s not noticeable, aside from fast breathing. In most children, breathing problems are serious. About 60% to 70% of children with this condition die from respiratory failure as babies or young children.

Children with Jeune syndrome who survive often develop problems with their kidneys, another serious feature of Jeune syndrome. Over time their kidneys may fail (called “renal failure”), which means they need dialysis (a process for filtering blood using a machine) or a kidney transplant to survive.

As a result, few children with Jeune syndrome live into their teen years.

Children with Jeune syndrome have a form of dwarfism. They are short in stature, and their arms and legs are shorter than most people’s.

Another name for Jeune syndrome is asphyxiating thoracic dystrophy (pronounced as-FIK-see-ate-ing tho-RASS-ik DISS-troh-fee). This diagnosis is grouped with other chest problems called thoracic (pronounced tho-RASS-ik) insufficiency syndrome (TIS). TIS is often caused by skeletal problems, such as scoliosis (in which the spine curves to the side) or other problems with the formation of the ribs.

Jeune Syndrome in Children

Jeune syndrome is a genetic disorder. It occurs when a child inherits from both parents the gene that causes Jeune syndrome.

Some people carry one copy of the gene that causes Jeune syndrome and another copy of the same gene that’s normal. This means they don’t have the disorder, but they can pass the abnormal gene onto their child. Children who get the abnormal gene from one parent and the normal gene from the other parent are carriers, but they do not have Jeune syndrome. Children who get the abnormal gene from both parents have Jeune syndrome. If a man and woman are carriers, each child they conceive has a one-in-four chance of having Jeune syndrome.

Jeune syndrome occurs in about 1 of every 100,000 to 130,000 babies.

Jeune Syndrome at Seattle Children’s

Because Jeune syndrome is so rare, few hospitals have experience treating many children with the condition. At Children’s, we have treated many children with TIS, some of whom have Jeune syndrome. We use a multidisciplinary approach. Doctors from our General and Thoracic Surgery, Orthopedics and Pulmonary and Sleep Medicine departments evaluate your child. Our doctors have experience in evaluating children to understand how they are affected. We provide the supportive care your child needs to maintain the best possible health.

We’re also experienced at determining when surgery to expand the rib cage may be effective. We can perform this surgery using a variety of techniques, including using the titanium rib, called VEPTR (vertical expandable prosthetic titanium rib).

When you come to Children’s, you have a team of people to care for your child before, during and after surgery. Along with your child’s surgeon, you are connected with doctors trained to care for new babies with complex problems (neonatologists), nurses, dietitians, child life specialists, social workers and others. We work together to meet all of your child’s health needs and help your family through this experience.

Since 1907, Children’s has been treating children only. Our team members are trained in their fields and also in meeting the unique needs of children. For example, the doctors who give your child anesthesia are board certified in pediatric anesthesiology. This means they have extra years of training in how to take care of kids. Our child life specialists know how to help children understand their illnesses and treatments in ways that make sense for their age. Our expertise in pediatrics truly makes a difference for our patients and families.

Who Treats This at Seattle Children's?

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Spring 2014: Good Growing Newsletter

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Download Spring 2014 (PDF)