Other Names for this Disease
- Spondylothoracic dysplasia
- Jarcho-Levin syndrome
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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).
Last updated: 4/19/2016
- 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 Jun; 82(6):1334-41. http://www.ncbi.nlm.nih.gov/pubmed/18485326.