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Jarcho-Levin Syndrome

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Jarcho-Levin Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • spondylocostal dysplasia
  • spondylothoracic dysplasia
  • costovertebral segmentation anomalies
  • spondylocostal dysostosis
  • spondylothoracic dysostosis

Disorder Subdivisions

  • SCDO1
  • SCDO2

General Discussion

Jarcho-Levin syndrome is a rare genetic disorder characterized by distinctive malformations of bones of the spinal column (vertebrae) and the ribs, respiratory insufficiency, and/or other abnormalities. Infants born with Jarcho-Levin syndrome have short necks, limited neck motion due to abnormalities of the cervical vertebrae and short stature.

In most cases, infants with Jarcho-Levin syndrome experience respiratory insufficiency and are prone to repeated respiratory infections (pneumonia) that result in life-threatening complications. The vertebrae are fused and the ribs fail to develop properly, therefore, the chest cavity is too small to accommodate the growing lungs.

There are apparently two forms of Jarcho-Levin Syndrome that are inherited as autosomal recessive genetic traits and termed spondylocostal dysostosis type 1 (SCDO1) and spondylocostal dyostosis type 2 (SCDO2).

Resources

Restricted Growth Association
PO Box 5137
Yeovil, BA20 9FF
United Kingdom
Tel: 03001111970
Fax: 03001112454
Email: office@restrictedgrowth.co.uk
Internet: http://www.restrictedgrowth.co.uk

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

European Skeletal Dysplasia Network
Institute of Genetic Medicine
Newcastle University
International Centre for Life
Central Parkway
Newcastle upon Tyne, NE1 3BZ
United Kingdom
Tel: 441612755642
Fax: 441612755082
Email: info@esdn.org
Internet: http://www.esdn.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  3/31/2008
Copyright  1989, 1992, 1997, 2005 National Organization for Rare Disorders, Inc.

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