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Diseases

Genetic and Rare Diseases Information Center (GARD)

Spondylothoracic dysostosis


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.

Overview

Spondylothoracic dysostosis (STD) is a rare condition that affects the bones of the spine and the ribs.[1] The term “Jarcho-Levin syndrome” in many cases is used as a synonym for STD, and sometimes as a synonym for another condition known as spondylocostal dysostosis, which has several common features with STD. Also, the term “Jarcho-Levin syndrome” is often used for all radiologic features that include defects of the vertebrae and abnormal rib alignment.[2] Signs and symptoms of STD are generally present at birth and may include short-trunk dwarfism (a short body with normal length arms and legs); a small chest cavity; misshapen and abnormally-fused vertebrae (bones of the spine); and fused ribs at the part nearest the spine. Affected people may also have life-threatening breathing problems and recurrent lung infections, which can significantly reduce lifespan. It can occur in any population; however, it occurs most frequently in people of Puerto Rican ancestry.[3] It is caused by changes (mutations) in the MESP2 gene and is inherited in an autosomal recessive manner.[1][3][4] Treatment is based on the signs and symptoms present and may include surgery for bone malformations and respiratory support.[4]
Last updated: 6/12/2016

References

  1. Spondylothoracic dysostosis. Genetics Home Reference. February 2011; https://ghr.nlm.nih.gov/condition/spondylothoracic-dysostosis.
  2. Turnpenny PD, Young E. Spondylocostal Dysostosis, Autosomal Recessive. GeneReviews. January 2013; http://www.ncbi.nlm.nih.gov/books/NBK8828/.
  3. 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.
  4. Mark C Lee, MD. Congenital Spinal Deformity. Medscape Reference. February 2015; http://emedicine.medscape.com/article/1260442-overview#a1.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Spondylothoracic dysostosis. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • 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.
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.