Definition:
Jarcho-Levin syndrome is a rare, genetic disorder characterized by abnormalities in the axial skeleton; usually referred to as spinal column abnormalities. Due to some thorax malformations, patients suffering from Jarcho-Levin syndrome are at a higher risk for life-threatening pulmonary complications. It is also described as short trunk dwarfism with abnormalities in the thorax causing thoracic insufficiency. The vertebrate are fused, preventing the rib cage from developing properly, consequently the chest cavity becomes too small to be big enough for the growing lungs.
Diagnosis:
There is no particular diagnostic test for Jarcho-Levin syndrome, most infants are diagnosed based on their appearance.
Treatment:
Infants born with Jarcho-levin syndrome experience breathing difficulties due to their very small and deformed chests; this condition makes them very vulnerable to developing pneumonia. This is the primary reason why children suffering from this disorder do not survive longer than 2 years after birth. Serious medical care, associated with treatment for respiratory infections are the treatment approaches for this disorder.
Bone surgery is also possible depending on the underlying conditions.
Symptoms and Signs:
Individuals suffering from Jarcho-Levin syndrome are identified to have short trunk and neck (short trunk dwarfism), protruding abdomen, arms are comparatively long, crab-like rib cage and other visible rib cage deformities, inward curvature of the spine ( lordosis) – to name a few.
Causes:
There is no known cause for Jarcho-Levin syndrome aside from the fact that it is a result of autosomal-recessive mode of inheritance.
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