Information on Jarcho-Levin Syndrome

Jarcho Levin syndrome is a genetic birth defect which causes malformed bones in the spine (vertebrae) and ribs. The chest has a characteristic crab-like appearance. Childs born with Jarcho Levin syndromes have intricacy breathing due to their little, malformed chests. Infants born with Jarcho-Levin syndrome have short necks, limited neck motion due to abnormalities of the cervical vertebrae and short stature. In most cases, infants with Jarcho-Levin syndrome experience respiratory insufficiency and are prone to frequent respiratory infections (pneumonia) that effect in life-threatening complications.

The vertebrae are fused and the ribs fail to develop properly, therefore, the chest cavity is too small to accommodate the growing lungs.  There are apparently two forms of Jarcho-Levin Syndrome that are inherited as autosomal recessive genetic traits and termed spondylocostal dysostosis type 1 (SCDO1) and spondylocostal dyostosis type 2 (SCDO2). Jarcho Levin syndrome affects both males and females.

Symptoms of Jarcho Levin syndrome may comprise malformed spine bones (vertebrae) such as synthesis of the bones. The malformed spine bones trigger the spine to curve outward (kyphosis), inward (lordosis), and sideways (scoliosis). The malformed spine bones and abnormal curves make the trunk small and cause short stature some of the ribs are fused together and others are malformed, giving the chest a crab-like appearance. Distinctive facial features and mild cognitive shortage may sometimes happen. Treatment usually consists of intensive medical care, including treatment of respiratory infections and bone surgery.