Other Names for this Disease
- Jarcho-Levin syndrome
- Spondylothoracic dysplasia
These Web pages are updated as the Genetic and Rare Diseases Information Center receives questions and as new information becomes available. If you don’t see many information resources on this page, it may be because the Information Center hasn’t yet received a question about this condition.
- 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.
- 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.
- 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. Epub 2008 May 15.