Individuals with Jeune syndrome have some physical characteristics in common:
- A long, narrow, and abnormally small chest with reduced lung capacity
- Short arms and legs compared to trunk and overall small stature (short- limbed dwarfism)
- Kidney lesions which may lead to kidney failure
- Intestinal malabsorption
- Retinal degeneration
- Liver problems
- Heart and circulatory problems
Jeune syndrome is usually diagnosed at birth based on the chest deformity and short-limbed dwarfism. Severely affected infants will have respiratory distress. Milder cases may be diagnosed by chest x-ray.
The most important area of medical care for an individuals with Jeune syndrome is preventing and treating respiratory infections. Unfortunately, many infants and children with the syndrome die from respiratory failure brought on by a very small chest and repeated respiratory infections.
Individuals with Jeune syndrome may also develop high blood pressure from kidney disease. Their kidneys may eventually fail, which is treated by dialysis or kidney transplantation.
Many individuals with Jeune syndrome who survive infancy begin to have normal chest development. There is also the possibility of enlarging the chest surgically. The ribs can be cut and patched with bone grafts or artificial plates.
Jeune syndrome is an inherited autosomal recessive disorder. This means that both parents must be carriers of the defective gene in order for a child to inherit the syndrome. Thus, if parents give birth to an affected child, this means both are carriers, and that each subsequent child they have has a 25% chance of inheriting the syndrome.
Information for this article was taken from:
Chen, H. (2004). Asphyxiating thoracic dystrophy (Jeune syndrome). eMedicine, accessed at http://www.emedicine.com/ped/topc1224.htm