Chromosomal and Genetic Conditions

Jeune Syndrome

What is Jeune syndrome?

Jeune syndrome (joon SIN-drohm) is a rare genetic disorder that affects how a child’s cartilage and bones develop. It is present from birth and affects the rib cage, pelvis, arms and legs.

Children with Jeune syndrome have rib cages that are smaller and narrower than usual. This can keep the child’s lungs from developing fully or expanding when the child inhales.

Jeune syndrome in children

Jeune syndrome affects about 1 in every 100,000 to 130,000 babies in the United States. It occurs when a child inherits the gene that causes Jeune syndrome from both parents. If a man and woman both carry the gene, each child they conceive has a 1 in 4 chance of having Jeune syndrome.

Children with Jeune syndrome have a form of dwarfism. They are short in height, and their arms and legs are shorter compared to others.

Another name for Jeune syndrome is asphyxiating thoracic dystrophy (as-FIK-see-ate-ing tho-RASS-ik DISS-troh-fee). This is part of a group of chest problems called thoracic (tho-RASS-ik) insufficiency syndrome (TIS). TIS is often caused by skeletal problems or problems with how the spine and ribs form.

Jeune syndrome’s main symptoms include breathing problems, but these are not always severe. Doctors believe the lungs of children with Jeune syndrome may be able to work normally, but don’t have enough room to grow when the child is very young. The lungs may develop and breathing may improve as the child grows. Your child may need surgery to expand the chest and give the lungs room to grow.

Children with Jeune syndrome may develop kidney and liver problems that can lead to kidney failure. Children may also have a hard time getting enough calories because of trouble eating. A feeding tube called a gastrostomy (gas-STRAH-stuh-mee) can help supply the calories they need to grow.

Jeune Syndrome at Seattle Children’s

Few hospitals have experience treating children with Jeune syndrome because the condition is so rare. Seattle Children’s sees more children with this condition than many other hospitals because doctors from several states send patients with Jeune syndrome here for treatment.

  • Providers from Pediatric General and Thoracic Surgery, Orthopedics and Pulmonary and Sleep Medicine will work together to evaluate your child and develop a treatment plan, which may include surgery.

    We can perform surgery using many different techniques. For example, our surgeons are very experienced in using the vertical expandable prosthetic titanium rib (VEPTR). VEPTR is an adjustable device implanted into your child that helps the rib cage expand to make room for the lungs.

    Our team of experts focuses on how today’s treatment will affect your child as they develop and become adults. We base treatment plans on years of experience and the newest research on what works best – and most safely – for children and teens. This experience helps us easily diagnose your child’s condition and work with you to decide on the best treatment.

  • At Seattle Children’s, your family has a full team behind you, from diagnosis through treatment and follow-up. From our appointment schedulers to our pediatric nurses, our team is specially trained to work with children and their families. Our facilities and equipment also reflect this kid-friendly, family-centered approach.

Symptoms of Jeune Syndrome

You will not notice symptoms of Jeune syndrome while you are pregnant. Once a baby with Jeune syndrome is born, they will experience some of these symptoms:

  • Small, narrow rib cage – sometimes called “bell-shaped” because it’s narrower at the top than at the bottom.
  • Fast breathing with little to no expansion of their chests.
  • Trouble breathing because their lungs haven’t developed fully and don’t have room to expand. These breathing problems may lead to lung infections.
  • Blue color to the skin or mucous membrane, sometimes most obvious in the lips, because they aren’t getting enough oxygen.
  • Unusually short or small arms and legs, sometimes with short fingers and toes or extra fingers or toes (called polydactyly, pronounced pahl-ee-DAK-til-ee).
  • Trouble eating and getting tired from eating.
  • Sweating during feeding or at night.

Diagnosing Jeune Syndrome

Sometimes doctors might notice a small, narrow chest or short arms and legs during a routine prenatal ultrasound exam, which could be signs of Jeune syndrome. If doctors diagnose Jeune syndrome before your baby is born, our Prenatal Diagnosis and Treatment team can help your family and your obstetrician plan your baby’s care.

To diagnose Jeune syndrome once a baby is born, doctors may:

  • Take X-rays to check the size and shape of the rib cage and bones in the pelvis, arms and legs
  • Order a urine test to check kidney function
  • Perform tests to check how much oxygen and carbon dioxide are in the blood
  • Test lung function to see how far the lungs expand and how well oxygen gets into their body
  • Order additional tests to check how other organs are working

Treating Jeune Syndrome

Children with Jeune syndrome need special care from a variety of providers. We take a team approach to developing a comprehensive treatment plan. The team features experts in orthopedics, pulmonary medicine, general and thoracic surgery and nutrition.

  • Treatment for Jeune syndrome starts with helping children breathe. Babies with the condition may need help from a breathing machine (ventilator) right away. This helps get oxygen in your baby’s lungs and remove carbon dioxide. Some children with Jeune syndrome may only need to be on a ventilator if a lung infection makes breathing more difficult.

  • Children with lung infections may need to be on a ventilator. They may also need:

    • Antibiotics
    • Suctioning to remove mucus from airways
    • Postural drainage, which involves placing the child in a position that will help mucus drain
  • Some children with Jeune syndrome may have a hard time getting enough calories because of trouble eating. The use of a feeding tube, called a gastrostomy, can help supply the calories they need to grow.

  • Surgery to enlarge the rib cage may be an option for some children with Jeune syndrome who cannot breathe well. Our surgeons use several procedures to give the lungs room to grow. Which procedure is best depends on your child’s age.

    One procedure uses the vertical expandable prosthetic titanium rib (VEPTR) to enlarge the chest. The VEPTR is inserted into the body and attached to your child’s ribs. Doctors usually expand the VEPTR every 6 months to help your child’s chest get bigger as they grow.

    Doctors aren’t sure if VEPTR works by expanding the chest and giving the lungs more room to grow or by helping the diaphragm. We are studying VEPTR to understand exactly why it works and find ways to make it work better.

    VEPTR is best used in children who are at least 8 or 9 months old. Other procedures may be done for younger children.

Contact Us

Contact our Pediatric General and Thoracic Surgery Department at 206-987-2794 for an appointment, second opinion or more information about pectus carinatum.

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