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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Spondylothoracic dysostosis


Other Names for this Disease
  • Jarcho-Levin syndrome
  • Spondylothoracic dysplasia
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Overview



What is spondylothoracic dysostosis?

Is spondylothoracic dysostosis genetic?


What is spondylothoracic dysostosis?

Spondylothoracic dysostosis, a condition also known as Jarcho-Levin syndrome, is a genetic disorder of bone development that affects the spinal column and ribs. Infants with Jarcho-Levin syndrome have fused vertebrae and poorly developed ribs, resulting in a chest cavity that has difficulty accommodating growing lungs.[1] It is caused by mutations in the MESP2 gene and is inherited in an autosomal recessive fashion.[2] Spondylothoracic dysostosis can occur in any population, however it occurs most frequently in people of Puerto Rican ancestry.[2] Careful assessment by an expert radiographer is required to distinguish spondylothoracic dysostosis from other similar rare conditions involving vertebral and rib anomalies (e.g., spondylocostal dysostosis, autosomal recessive).
Last updated: 4/15/2010

Is spondylothoracic dysostosis genetic?

Yes. Spondylothoracic dysostosis is caused by mutations in the MESP2 gene. It is inherited in an autosomal recessive fashion.[2]
Last updated: 4/15/2010

References
  1. Jarcho Levin Syndrome. National Organization for Rare Disorders. 2005; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Jarcho-Levin%20Syndrome. Accessed 6/25/2009.
  2. Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet JF, Sasaki N, Ellard S, Young E, Ramirez N, Carlo SE, Torres J, Emans JB, Turnpenny PD, Pourquié O. Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.. Am J Hum Genet. 2008;