Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Spondylocostal dysostosis
  • Spondylocostal dysplasia, recessive form
  • Costovertebral dysplasia
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Jarcho-Levin syndrome
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My nephew has been diagnosed with Jarcho-Levin syndrome. Do you have information on this condition that I could share with my family?



  • What is Jarcho-Levin syndrome? (Back to Top)

  • Jarcho-Levin syndrome is a genetic skeletal dysplasia affecting the spinal column and ribs. Infants with Jarcho-Levin syndrome have short necks, limited neck motion, often experience respiratory insufficiency, and are prone to repeated respiratory infections that can become life-threatening. In Jarcho-Levin syndrome the vertebrae are fused and the ribs fail to develop properly; as a result the chest cavity has difficulty accommodating the growing lungs.[1]
  • Last Reviewed: 1/21/2009

  • Are there different forms of Jarcho-Levin syndrome? (Back to Top)

  • Yes. Jarcho-Levin syndrome can be classified into the subtypes “spondylo-thoracic dysplasia” and “Spondylo-costal dysplasia” based upon the extent and distribution of how the skeleton is affected, the pattern of inheritance, and the prognosis.[2]

    Spondylo-thoracic dysplasia predominantly involves vertebral defects and is inherited as an autosomal recessive trait. People with this subtype have a classical ‘crab-like’ or ‘fan-like’ appearance of the thorax. Pneumonias and restrictive lung disease may develop and become life threatening.[2]

    Spondylo-costal dysplasia is characterized by vertebral and rib anomalies and is inherited as either an autosomal dominant or autosomal recessive trait. The survival rate for people with spondylo-costal dysplasia is high after six months of age.[2]


  • Last Reviewed: 1/21/2009

  • What symptoms may be seen in individuals who have Jarcho-Levin syndrome? (Back to Top)

  • Symptoms of Jarcho-Levin syndrome include, dwarfism, spine abnormalites, rib anomalies, fused ribs, respiratory infections, short neck, short trunk, and normal length limbs.[3] Symptoms vary from patient to patient. Most patients with this syndrome have normal intelligence and neurological abnormalities are infrequent.[2]
  • Last Reviewed: 1/21/2009

  • What treatment is available for Jarcho-Levin syndrome? (Back to Top)

  • Many infants born with Jarcho-Levin syndrome 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.[4]
  • Last Reviewed: 1/21/2009

  • How can I find a genetics professional in my community?
     (Back to Top)

  • We suggest that you consult with a genetics professional because this condition can be inherited. To find a genetics professional near you we recommend you speak with your health care provider. Click here to learn more about genetic consultations.

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

      * GeneTests - A searchable directory of US and international genetics and prenatal diagnosis clinics. To locate genetics clinics in the United States, go to the following link and click on "Clinic Directory" to find a genetic service close to you.  To locate genetics clinics outside of the United States, go the following link, click on "Clinic Directory", and click on "International Clinic Directory Search".
    http://www.geneclinics.org/

      * ResourceLink - A database of genetic counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
    http://www.nsgc.org/resourcelink.cfm

      * Genetic Centers, Clinics, and Departments - A comprehensive resource list for genetic counseling, including links to genetic centers and clinics, associations, and university genetics departments. Hosted by the University of Kansas Medical Center.
    http://www.kumc.edu/gec/prof/genecntr.html

       * The American Society of Human Genetics (ASHG) is a professional organization of research and clinical geneticists. The ASHG maintains a database of these geneticists, some of which live outside of the United States. If you are interested in obtaining a list of the geneticists in your area, some of which may only be researchers and may not offer medical care, please visit the following hyperlink, and search using your city, state, and/or country.
    http://genetics.faseb.org/cgi-bin/ASHG-Search


  • Last Reviewed: 8/25/2008

  • Is Jarcho-Levin syndrome genetic? (Back to Top)

  • Yes. Jarcho-Levin syndrome may be inherited in an autosomal recessive (most often) or autosomal dominant manner.[1][3]
  • Last Reviewed: 1/21/2009


References  (Back)
  1. Jarcho Levin Syndrome. National Organization for Rare Disorders. 2005 Available at: http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Jarcho-Levin%20Syndrome. Accessed January 21, 2009.
  2. Kulkarni ML, Navaz SR, Vani HN, Manjunath KS, Matani D. . Indian J Pediatr. 2006;:. Available at: http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=16567923%5Buid%5D. January 21, 2009.
  3. Spondylocostal dysostosis, autosomal recessive 1; SCDO1. Online Mendelian Inheritance in Man. 2005 Available at: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277300. Accessed January 21, 2009.
  4. Spondylocostal dysostosis, autosomal recessive. Orphanet. February 2005 Available at: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2311. Accessed January 21, 2009.

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