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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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Inheritance

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Is spondylothoracic dysostosis genetic?

Yes. Spondylothoracic dysostosis is caused by mutations in the MESP2 gene. It is inherited in an autosomal recessive fashion.[1]
Last updated: 4/15/2010

References
  1. 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;


Other Names for this Disease
  • Jarcho-Levin syndrome
  • Spondylothoracic dysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.