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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

My nephew has been diagnosed with Jarcho-Levin syndrome. Do you have information on this condition that I could share with my family?

Our Answer

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

Is spondylothoracic dysostosis genetic?

Yes. Spondylothoracic dysostosis is caused by mutations in the MESP2 gene. It is inherited in an autosomal recessive fashion.[1]
Last updated: 4/15/2010

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.[2] It is caused by mutations in the MESP2 gene and is inherited in an autosomal recessive fashion.[1] Spondylothoracic dysostosis can occur in any population, however it occurs most frequently in people of Puerto Rican ancestry.[1] 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.[1]

Other complications of spondylothoracic dysostosis, include shortened stature (due to the spine and vertebral defects) and limited neck motion.[3][1] 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.[1]

Most patients with spondylothoracic dysostosis have normal intelligence and neurological problems are infrequent.[4]
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 a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 7/17/2013

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.