Symptoms
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
Diagnosis
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.
Treatment
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.
Genetic counseling
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
