Symptoms of Jeune Syndrome
You will not notice any symptoms of Jeune syndrome before your baby is born.
The severity of symptoms of babies born with Jeune syndrome varies widely. Some babies have no noticeable symptoms. Some get breathing trouble only when they have a respiratory infection. But 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 chests
- Obvious trouble breathing, because their lungs haven’t developed fully and don’t have room to expand within their small chests
- Blue color to the skin or mucus membranes, sometimes most obvious in the lips, because they aren’t getting enough oxygen from their lungs into their blood
- 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)
- Poor intake of food by mouth, and fatigue with eating
- Sweating during feeding or at night
Space in the rib cages of children who survive their early years tends to improve over time. 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 don’t have enough room to grow. Once the rib cage allows more growth, the lungs continue to develop.
Some children get repeated, severe lung infections. They may also have defects, or lesions, in their kidneys. These problems can develop anytime during infancy, childhood or later. Over time the kidneys may fail (renal failure). If this happens, your child will need dialysis (a process for filtering blood using a machine) or a kidney transplant to survive.
Children with Jeune syndrome may also have other health problems, such as problems with the parts of the eyes that sense light; problems absorbing nutrients in their intestine; or problems with their liver, heart, pancreas and other organs.
Jeune Syndrome Diagnosis
Sometimes doctors are able to see the signs of Jeune syndrome during a routine prenatal ultrasound exam. 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 health and plan the care your baby will need after birth.
Most of the time, there’s no clear sign of Jeune syndrome until after a baby is born. The baby may show typical signs and symptoms right away. In mild cases, though, symptoms may not show up 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 test results or your child’s condition, the doctor may want to do additional tests, such as checking how well other organs are working.