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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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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

  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;