Information on Jarcho-Levin Syndrome

Jarcho Levin syndrome is a genetic birth defect whichThere are apparently two forms of Jarcho-Levin
causes malformed bones in the spine (vertebrae) andSyndrome that are inherited as autosomal recessive
ribs. The chest has a characteristic crab-likegenetic traits and termed spondylocostal dysostosis
appearance. Childs born with Jarcho Levin syndromestype 1 (SCDO1) and spondylocostal dyostosis type 2
have intricacy breathing due to their little, malformed(SCDO2). Jarcho Levin syndrome affects both males
chests. Infants born with Jarcho-Levin syndromeand females.
have short necks, limited neck motion due toSymptoms of Jarcho Levin syndrome may comprise
abnormalities of the cervical vertebrae and shortmalformed spine bones (vertebrae) such as synthesis
stature. In most cases, infants with Jarcho-Levinof the bones. The malformed spine bones trigger the
syndrome experience respiratory insufficiency andspine to curve outward (kyphosis), inward (lordosis),
are prone to frequent respiratory infectionsand sideways (scoliosis). The malformed spine bones
(pneumonia) that effect in life-threateningand abnormal curves make the trunk small and cause
complications.short stature some of the ribs are fused together
The vertebrae are fused and the ribs fail to developand others are malformed, giving the chest a
properly, therefore, the chest cavity is too small tocrab-like appearance. Distinctive facial features and
accommodate the growing lungs. Infants born withmild cognitive shortage may sometimes happen.
Jarcho Levin syndrome have difficulty breathing dueTreatment usually consists of intensive medical care,
to their small, malformed chests, and therefore areincluding treatment of respiratory infections and bone
prone to repeated respiratory infections (pneumonia).surgery.