It is possible that the main title of the report Jarcho-Levin Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- spondylocostal dysplasia
- costovertebral segmentation anomalies
- spondylocostal dysostosis
- spondylothoracic dysostosis
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).
Restricted Growth Association
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Yeovil, BA20 9FF
Genetic and Rare Diseases (GARD) Information Center
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Gaithersburg, MD 20898-8126
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Los Angeles, CA 90024
European Skeletal Dysplasia Network
Institute of Genetic Medicine
International Centre for Life
Newcastle upon Tyne, NE1 3BZ