Chromosomal and Genetic Conditions

Jeune Syndrome Symptoms and Diagnosis

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 (polydactyly, pronounced pahl-ee-DAK-til-ee).
  • Trouble eating and getting tired from eating.
  • Sweating during feeding or at night.

Jeune Syndrome Diagnosis

Sometimes doctors see the signs of Jeune syndrome during a routine prenatal ultrasound exam. They might notice a small, narrow chest or short arms and legs. 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, 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.

Your child may need more tests to check how other organs are working.

Contact Us

To learn more about Jeune syndrome treatment at Seattle Children’s, call our General and Thoracic Surgery Department at 206-987-2794 x4.