Jeune Syndrome

Jeune syndrome (joon SIN-drohm) is a rare genetic condition that a child is born with. It affects how a child’s bones and tough connective tissue (cartilage) grow.

Children with Jeune syndrome have:

• A small and narrow rib cage. This can keep their lungs from growing to full size or expanding when they breathe in.
• A form of dwarfism. They are short in height, with shorter arms and legs than people who do not have this condition.

Jeune syndrome is also called asphyxiating thoracic dystrophy (as-FIK-see-ate-ing tho-RASS-ik DISS-troh-fee) or ATD. It is a type of thoracic insufficiency syndrome (TIS).

• How serious is Jeune syndrome?

  Jeune syndrome is very serious, and many children only live a few years. Breathing problems are the biggest concern. They can range from very mild to life threatening. Your child may have symptoms as a newborn or not until later.

  For children who live past early childhood, breathing problems may improve as they grow. But some need treatment to help with breathing. As children grow, they may have problems with their kidneys or heart.

• What causes Jeune syndrome?

  Jeune syndrome happens if both parents pass on the gene that causes it to their baby. If a man and woman both carry the gene, there is a 1 in 4 chance in each pregnancy of having a baby with Jeune syndrome.

Few hospitals have experience treating Jeune syndrome because it is so rare. Seattle Children’s sees more children with this condition than many other hospitals. Doctors from other states send patients with Jeune syndrome to us for treatment.

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

• Care from prenatal diagnosis to young adulthood
  • If an ultrasound during pregnancy shows that your baby may have Jeune syndrome, our Fetal Care and Treatment Center team can do a detailed evaluation.
  • Our transport team is very experienced in safely moving very sick children from other hospitals. At Seattle Children’s, your child will get the high level of care they need, which may include our Pediatric Intensive Care Unit (PICU).
  • We focus on how today’s treatment will affect your child as they grow. We base treatment plans on years of experience and the newest research on what works best and most safely.
  • During childhood and beyond, Seattle Children’s experts check your child’s health and provide treatment as needed.
• The experts you need are here
  • Children with Jeune syndrome need care from experts in different specialties. Providers from Pediatric General and Thoracic Surgery, Orthopedics and Pulmonary Medicine will work together to assess your child and create a treatment plan.
  • If your child needs surgery, we are very experienced in inserting an adjustable device that helps their rib cage expand. It is called a vertical expandable prosthetic titanium rib (VEPTR).
  • Our Pediatric Surgery team is one of the most experienced in the nation, with excellent outcomes. Children do not react to illness, medicine or surgery in the same way as adults. That’s why our surgeons are all board certified in pediatric surgery.
• Support for your whole family
  • At Seattle Children’s, your family has a full team behind you, from diagnosis through treatment and follow-up.
  • Finding out your baby has Jeune syndrome can be scary. We take time to explain your child’s condition. We help you fully understand your treatment options and make the choices that are right for your family.
  • 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.
  • Our doctors, nurses, child life specialists and social workers help your child and your family through the challenges of this condition. We connect you to community resources and support groups.
  • At Seattle Children's, we work with many children and families from around the Northwest and beyond. We can help with financial counseling, schooling, housing, transportation, interpreter services and spiritual care. Read about our services for patients and families.
• Research to advance care

  Seattle Children’s leads research in the lab and in the clinic to improve treatment and quality of life for children born with complex conditions.

  • We are studying VEPTR to understand exactly why it works and find ways to make it work better. 
  • Our experts lead research to improve outcomes for babies with complex problems. See Pushing Limits, Saving Lives.
  • Our patients have the option to take part in research studies of promising new treatments. These are called clinical trials.

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 Fetal Care and Treatment Center 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

At Seattle Children’s, your child will get care from experts in orthopedics, pulmonary medicine, general and thoracic surgery and nutrition. We work as a team to create a complete treatment plan for your baby.

Our treatment will focus on how we support  your child’s breathing and prevent and treat respiratory infections. The risk of severe lung infections is lower after 2 years as your baby’s chest grows and gives their lungs more room. But many children need surgery to expand their chest. We will check your child as they grow for problems related to their skeleton, kidneys, liver and heart.

• Breathing assistance

  Treatment for Jeune syndrome starts with breathing support, as needed.

  • Many babies with Jeune syndrome need help from a breathing machine (ventilator) right away. This helps get oxygen into your baby’s lungs and removes carbon dioxide.
  • If breathing problems are severe, doctors will place a tube into your child’s windpipe (tracheostomy) to help them breathe.

  How long your baby may need breathing support depends on their condition.

• Treatment for lung infections

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

  • Medicine to fight infection (antibiotics).
  • Suctioning to remove mucus from their airways.
  • Being put in a position to help mucus drain. This is called postural drainage.
• Nutrition and feeding

  Children with breathing problems may have a hard time eating. Your child may need a feeding tube to give them the nutrients and the calories they need to grow.

  How long a feeding tube is needed varies from child to child. We keep a careful watch to be sure your child is growing well.

• Surgery for Jeune syndrome

  Children with Jeune syndrome who cannot breathe well may need surgery to enlarge their rib cage. To do this, we often implant a prosthetic  rib in children who are 6 months or older. It is called a vertical expandable prosthetic titanium rib (VEPTR).

  • Surgeons insert the VEPTR into your child’s body and attach it to their ribs.
  • Doctors expand the VEPTR about every 3 to 6 months to help your child’s chest get bigger as they grow.

  Before surgery, we will give your child medicine to make them sleep without pain (general anesthesia). Our pediatric anesthesiologists have special training in treating children safely.

• Going home from the hospital

  How long your child will stay in the hospital depends on their needs. We make sure your child can breathe well without a breathing machine before they go home.

  Our nurses will help set up the supplies and equipment you need. You will have plenty of time to practice all of your baby’s care before going home.

• Follow-up care

  About 2 or 3 weeks after surgery, your child will have a follow-up visit. We make sure their incision is healing and they are breathing and feeding well.

  Experts from Pediatric General and Thoracic Surgery, our Spine Program, Orthopedics, Pulmonary Medicine and Nutrition check your child's health over the long term. We provide treatment and advice and refer your child to other specialists as needed.

  Some children need ongoing care to:

  • Prevent and treat lung infections and provide breathing support.
  • Adjust VEPTR as your child grows, after surgery to expand their chest.
  • Address your child’s needs related to dwarfism. Our Skeletal Health team is known worldwide for our expertise and is active with Little People of America, Inc.
  • Prevent and treat kidney or liver problems that can lead to kidney failure.
  • Prevent and treat heart problems that affect some children with Jeune syndrome.