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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

I have a friend who was diagnosed with Jarcho-Levin syndrome at birth. Is there information available about this condition that might be relevant to an adult?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is spondylothoracic dysostosis?

Spondylothoracic dysostosis, a condition also known as Jarcho-Levin syndrome, is a genetic disorder of bone development that affects the spinal column and ribs. Infants with Jarcho-Levin syndrome have fused vertebrae and poorly developed ribs, resulting in a chest cavity that has difficulty accommodating growing lungs.[1] It is caused by mutations in the MESP2 gene and is inherited in an autosomal recessive fashion.[2] Spondylothoracic dysostosis can occur in any population, however it occurs most frequently in people of Puerto Rican ancestry.[2] Careful assessment by an expert radiographer is required to distinguish spondylothoracic dysostosis from other similar rare conditions involving vertebral and rib anomalies (e.g., spondylocostal dysostosis, autosomal recessive).
Last updated: 4/15/2010

What are the signs and symptoms of spondylothoracic dysostosis?

Signs and symptoms of spondylothoracic dysostosis, include spine and vertebral abnormalities which result in a shortened spine, neck, and trunk, as well as rib anomalies including fused ribs which in combination with the spine anomalies result in a "crab-like" appearance to the rib cage.

The shortened spine and rib cage anomalies can cause serious breathing problems and recurring lung infections. These complications result in a 32% death rate in early childhood.[2]

Other complications of spondylothoracic dysostosis, include shortened stature (due to the spine and vertebral defects) and limited neck motion.[3][2] Symptom and symptom severity may vary from patient to patient, however symptoms tend to be the worse for children who carry two "E230X" mutations in the MESP2 gene.[2]

Most patients with spondylothoracic dysostosis have normal intelligence and neurological problems are infrequent.[4]
Last updated: 4/15/2010

Is spondylothoracic dysostosis genetic?

Yes. Spondylothoracic dysostosis is caused by mutations in the MESP2 gene. It is inherited in an autosomal recessive fashion.[2]
Last updated: 4/15/2010

What treatment is available for spondylothoracic dysostosis?

Many infants born with spondylothoracic dysostosis have difficulty breathing due to their small, malformed chests, and therefore are prone to repeated respiratory infections (pneumonia). As the infant grows, the chest is too small to accommodate the growing lungs, and as a result, life threatening complications may develop. Treatment usually consists of intensive medical care, including treatment of respiratory infections, bone surgery, and orthopedic treatment.[5]
Last updated: 4/15/2010

How can I find information for adults with spondylothoracic dysostosis?

Much of the available information about spondylothoracic dysostosis has focused on differential diagnosis and infant complications. For information more pertinent to adult patients, you can search the medical literature. Several studies involving follow-up of individuals with Jarcho-Levin syndrome have been conducted. A few of these studies have followed patients into adulthood. Click here to go to PubMed and review citations to these articles.  

Adults with Jarcho-Levin syndrome may also benefit from contacting the following Skeletal Dysplasia Registries which are staffed by experts in the field. 

International Skeletal Dysplasia Registry
Medical Genetics Institute
8635 West Third Street, Suite 665
Los Angeles, CA 90048
Toll-free: 1-800-233-2771
Fax: 310-423-0462
Web site: http://www.csmc.edu/3805.html

Greenberg Center for Skeletal Dysplasias
Johns Hopkins University
Institute of Genetic Medicine
600 North Wolfe Street
Blalock 1008
Baltimore, MD 21287
Telephone: 410-614-0977
E-mail:  deedee@jhmi.edu
Web site:  http://www.hopkinsmedicine.org/geneticmedicine/CR/SKD/index.html

Last updated: 4/15/2010

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