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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


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

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;
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Basic Information

  • Genetics Home Reference (GHR) contains information on Spondylothoracic dysostosis. This website is maintained by the National Library of Medicine.
  • The Fetus.net has an information page on Jarcho-Levin syndrome. Click on The Fetus.net to view the page.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • eMedicine provides information on congenital spinal deformity in general that you may find helpful. You may need to register to view the medical textbook, but registration is free
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Spondylothoracic dysostosis. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles