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Jarcho-Levin Syndrome

Abstract

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Synonyms of Jarcho-Levin Syndrome

  • costovertebral segmentation anomalies
  • spondylocostal dysostosis
  • spondylocostal dysplasia
  • spondylothoracic dysostosis
  • spondylothoracic dysplasia

Disorder Subdivisions

  • SCDO1
  • SCDO2

General Discussion

Jarcho-Levin syndrome is a rare genetic disorder characterized by distinctive malformations of bones of the spinal column (vertebrae) and the ribs, respiratory insufficiency, and/or other abnormalities. 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 repeated respiratory infections (pneumonia) that result 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).

Organizations related to Jarcho-Levin Syndrome

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