Other Names for this Disease
- Jarcho-Levin syndrome
- Spondylothoracic dysplasia
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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.
Last updated: 4/15/2010
- Spondylocostal dysostosis, autosomal recessive. Orphanet. February 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2311. Accessed 6/25/2009.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
- The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Studies of Children with Metabolic or Other Genetic Disorders and one titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you. To find these trials, click on the links above.