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Jeune Syndrome

What is Jeune syndrome?

Jeune syndrome is a rare genetic disorder that affects the way a child’s cartilage and bones develop, beginning before they are born. Their rib cage, pelvis, arms, and legs are affected.

Usually problems with the rib cage have the most serious health consequences. In children with Jeune syndrome, the rib cage, or thorax, is smaller and narrower than usual. This can restrict the child’s lungs and keep them from developing fully or expanding when the child inhales. So the child may breathe rapidly and shallowly and 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, it is serious. About 60% to 70% of children with this condition die from respiratory failure as infants or young children.

The children who survive often develop problems later 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.

Between breathing problems and kidney problems, few children with Jeune syndrome live into or beyond their teen years.

Along with the serious problems that threaten their health, 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 limbs are.

Jeune syndrome is also called 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 insufficiency (pronounced tho-RASS-ik in-suh-FISH-en-see) syndrome (TIS). All patients with TIS have breathing problems because their rib cage does not expand properly. Many times TIS is caused by skeletal problems such as scoliosis (in which the spine curves to the side) or other problems with the formation of the ribs.

Who gets Jeune syndrome?

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

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 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 themselves but 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.

This condition occurs in about 1 of every 100,000 to 130,000 babies born. It affects both boys and girls, and people of all racial backgrounds.

What are the symptoms?

Before your baby is born, you would not notice any symptoms related to your baby’s condition. After your baby’s birth, the severity of symptoms can vary widely. Some babies have no noticeable symptoms or they get breathing trouble only when they have a respiratory infection. Most babies with Jeune syndrome will have at least some of these symptoms:

  • Small, narrow rib cage — sometimes called a “bell-shaped” thorax because it’s narrower at the top than the bottom
  • Rapid breathing, often more than 60 breaths per minute, with little to no expansion of their chest
  • Clear trouble breathing — because their lungs haven’t developed fully and don’t have room to expand within their small chest
  • Blue color to the skin or mucus membranes, maybe most obvious at the lips — because they aren’t getting enough oxygen from their lungs into their blood
  • Unusually short or small arms and legs, maybe with short fingers and toes or with extra fingers or toes (polydactyly, pronounced pahl-ee-DAK-til-ee)
  • Poor intake of food by mouth, and fatigue with eating
  • Sweating during feeding or at night

The restriction in the rib cages of children who survive the early years of Jeune syndrome tends to improve over time — and, along with it, so does their ability to breathe. Doctors believe the lungs of children with Jeune syndrome are normal but that during their younger years the lungs just don’t have enough room to grow. So once the rib cage allows more growth, the lungs continue to develop.

Some children get repeated severe lung infections that may last longer than typical lung infections in children.

They may also have defects, or lesions, in their kidneys. These can develop anytime during infancy, childhood or later. Gradually this can progress to kidney failure.

Children with Jeune syndrome may also have other health problems, such as problems with their retinas, the parts of the eyes that sense light; problems absorbing nutrients in their intestines; or problems with their liver, heart, pancreas, and other organs.

How do you diagnose Jeune syndrome?

Sometimes during a routine prenatal ultrasound, doctors are able to see the signs of Jeune syndrome — they might notice potential breathing trouble; a small, narrow chest; or short limbs. When this happens, your health-care team can begin working with you before your baby is born to monitor his health and plan the care he will need after birth.

Most of the time, there’s no clear sign of Jeune syndrome until after a baby is born. Then the baby may show typical signs and symptoms right away or, in mild cases, not for a while.

To diagnose Jeune syndrome, doctors may take these steps:

  • Take X-rays to check the size and shape of the rib cage and bones in the pelvis, arms, and legs.
  • Do urine tests to check kidney function.
  • Perform tests to check how much oxygen and carbon dioxide are in the blood.
  • Conduct tests of lung function to tell how well your child’s lungs can expand and how well oxygen can get into their body through their lungs.

Depending on the results or your child’s condition, the doctor may want to do additional tests, such as checking how well other organs are working.

What is your experience with Jeune syndrome at Children’s?

Because Jeune syndrome is so rare, few hospitals have experience treating many children with this condition. At Children’s, we have treated many children with TIS, some of whom have Jeune syndrome. We use a multidisciplinary approach with doctors from General & Thoracic Surgery, Orthopedics and Pulmonary Medicine to evaluate these children. Our doctors have experience in evaluating children to understand how they are affected and how severely, and in providing the supportive care children need to maintain the best possible health. We’re also experienced at determining when surgery to expand the rib cage may be effective and in performing this surgery using a variety of techniques — including using the titanium rib, also called VEPTR, or 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.

How do you treat Jeune syndrome?

The first priority in treating children with Jeune syndrome is to provide any care they may need to help ensure they can breathe.

Infants born with severe breathing problems need care immediately. They may need support right away from a ventilator, which is a breathing machine. A tube is placed through the baby’s mouth and down the windpipe. The ventilator delivers air through this tube into the baby’s lungs, and then it releases pressure so the baby can exhale. This helps get oxygen in and carbon dioxide out.

Some children with Jeune syndrome don’t need a ventilator right after birth. But they may need it later — if a lung infection makes breathing more difficult, for example. Preventing and treating such infections is an important part of care. Your child’s health-care team may give antibiotics, use suctioning to remove mucus from airways, or use postural drainage. This means placing the child in a position that will help mucus drain so it doesn’t impair breathing.

Some children will have difficulty feeding on their own and may need a feeding tube called a gastrostomy (pronounced gas-STRAH-stuh-mee). For a gastrostomy, the surgeon makes a small opening through the wall of your child’s belly and places a tube into the stomach. This provides a safe way to give your child nutrition until they can feed by mouth. Your physicians, in consultation with our dietitians, will determine if your child needs this and discuss the options with you.

Surgery to enlarge the rib cage may be an option for some children who cannot breathe well enough by other means. Our surgeons use several procedures, depending on the child’s age, to expand the chest and potentially allow more room for the lungs to expand and grow.

One procedure involves dividing the child’s ribs at the front and the back and attaching a titanium rib, or VEPTR, to the natural ribs using cables and wires. This expands the chest cavity. The VEPTR is an adjustable device that is expanded once every six months so the chest continues to enlarge as the child grows. Because of the magnitude of the surgery, only one side is done at a time.

The VEPTR is best used in children who are at least 8 or 9 months old. Other procedures can be done for children who are younger and need an operation.

Resources

Read more about what to expect when your child has surgery at Children’s or needs to stay in the hospital. You can get practical details about topics like who will be on your child’s care team.You can also take a virtual tour of our surgery rooms and other parts of the hospital.

To learn more about this condition, you may want to visit our resource list.