What is Jeune Syndrome?
Jeune Syndrome, also known as Asphyxiating Thoracic Dystrophy, is a rare genetic multi-system disorder that primarily affects the growth of the rib cage, thereby restricting growth of the lungs. Jeune Syndrome may also affects other parts of the skeleton, as well as the eyes, kidneys, liver and pancreas.

 How common is Jeune Syndrome?
Jeune Syndrome is very rare. It has been reported to occur with a frequency of between 1/100,000 and 1/130,000. This means that in Australia approximately two babies affected by Jeune Syndrome are born each year.

 What parts of the body are affected by Jeune Syndrome?

Usually affected

• Skeleton: Jeune Syndrome affects the growth and development of many bones in the skeleton, but by far the most severely affected are the ribs. In Jeune Syndrome the ribs are generally very short creating a small and narrow rib cage. Elsewhere in the skeleton, the pelvis is small and has a distinctive appearance that is useful in the diagnosis of Jeune Syndrome. Other bones can show mild abnormalities and long bones can be shortened, although may be of normal length.


• Lungs: The small rib cage in Jeune Syndrome means that the lungs are restricted in their growth (called ‘pulmonary hypoplasia’). In some babies affected by Jeune Syndrome, the lungs are so underdeveloped that they cannot function.  When the lungs are sufficiently developed for babies to survive, lung function tends to improve with age, although babies and children with Jeune Syndrome are often particularly vulnerable to respiratory infections.

Sometimes affected

• Kidneys: Kidney disease appears to be a relatively common occurrence in children with Jeune Syndrome who survive infancy. Kidney disease is often progressive and may lead to chronic renal failure requiring dialysis and/or renal transplantation.


• Liver: Liver disease can occur in Jeune Syndrome and may present early as neonatal jaundice or later as liver fibrosis and liver cirrhosis. Liver disease in Jeune Syndrome may be asymptomatic or mild, but in a minority of cases can be severe.


• Hands and feet: Short fingers and toes may be present but this does not interfere with function.  Extra digits (polydactyly) are an infrequent finding.


• Growth: Height in Jeune Syndrome is generally reduced, but not markedly so. Surviving children with Jeune Syndrome usually have height at the lower end of the normal range or slightly below the normal range.


• Eyes: Degeneration of the retina has been reported in Jeune Syndrome and may result in impaired vision.


• Pancreas: Pancreatic fibrosis and pancreatic cysts have been observed in Jeune Syndrome, however there is little evidence of pancreatic disease causing symptoms.

How is Jeune Syndrome diagnosed?
The diagnosis of Jeune Syndrome is based on the presence of typical clinical and radiograph findings. There is no blood test that will diagnose Jeune Syndrome.

What is the prognosis of Jeune Syndrome?
The severity of Jeune Syndrome is highly variable and the course of the condition reflects this variability. Babies with the more severe forms of Jeune Syndrome are unable to survive because the chest and lungs are too small to allow breathing to occur. Approximately 70-80% of babies with Jeune Syndrome die shortly after birth, although this figure may improve with advances in neonatal intensive care. In children who survive beyond the first year of life, lung function tends to improve with the passage of time, however kidney disease appears to be a particular hazard as children become older.

How is Jeune Syndrome inherited?
Jeune Syndrome is a genetic disorder. The gene (or genes) responsible for Jeune Syndrome have not yet been discovered, although there is evidence that one gene responsible for Jeune Syndrome is located on chromosome 15.  Jeune Syndrome is inherited in an ‘autosomal recessive’ manner. All genes come in pairs, which means that all people carry two copies of the Jeune Syndrome gene. Jeune Syndrome only occurs when both copies of the gene, one of which is inherited from each parent, are faulty.

This means that for a child to have Jeune Syndrome, both parents must be ‘carriers’ of one faulty copy of the gene as well as one normal copy. It is only when a baby inherits both faulty copies from its parents that Jeune Syndrome will occur. If a couple have had one affected child with Jeune Syndrome, in subsequent pregnancies there is a 1 in 4 chance of the baby being affected and a 3 in 4 chance that the baby will be unaffected.

Can Jeune Syndrome be diagnosed prenatally?
At present the only way to diagnose Jeune Syndrome during a pregnancy is by ultrasound. In more severe cases of Jeune Syndrome ultrasound changes may be detectable at 18-20 weeks gestation, but in less severe cases diagnosis may not be possible until late in pregnancy.

This information has been kindly provided by Dr David Amor FRACP, Clinical Geneticist, Genetic Health Services Victoria, Royal Children’s Hospital, Parkville Victoria, Australia and was last reviewed on 26 February 2007.