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Diseases

Genetic and Rare Diseases Information Center (GARD)

Spondylothoracic dysostosis


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

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How is spondylothoracic dysostosis inherited? 

Spondylothoracic dysostosis is inherited in an autosomal recessive fashion. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected).[1]
Last updated: 4/19/2016

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; http://www.ncbi.nlm.nih.gov/pubmed/18485326.


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