Spondylothoracic dysostosis

Common Name(s)

Spondylothoracic dysostosis, Jarcho-Levin syndrome

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

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spondylothoracic dysostosis" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Spondylothoracic dysostosis" returned 3 free, full-text research articles on human participants. First 3 results:

Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.
 

Author(s): Alberto S Cornier, Karen Staehling-Hampton, Kym M Delventhal, Yumiko Saga, Jean-Francois Caubet, Nobuo Sasaki, Sian Ellard, Elizabeth Young, Norman Ramirez, Simon E Carlo, Jose Torres, John B Emans, Peter D Turnpenny, Olivier Pourquié

Journal: Am. J. Hum. Genet.. 2008 Jun;82(6):1334-41.

 

Spondylothoracic dysostosis (STD), also known as Jarcho-Levin syndrome (JLS), is an autosomal-recessive disorder characterized by abnormal vertebral segmentation and defects affecting spine formation, with complete bilateral fusion of the ribs at the costovertebral junction producing ...

Last Updated: 3 Jun 2008

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Congenital heart disease in spondylothoracic dysostosis: two familial cases.
 

Author(s): J M Simpson, A Cook, N L Fagg, N A MacLachlan, G K Sharland

Journal: J. Med. Genet.. 1995 Aug;32(8):633-5.

 

Two familial cases of spondylothoracic dysostosis are reported. Both cases had severe congenital heart disease in addition to the skeletal malformations which are characteristic of the condition.

Last Updated: 7 Dec 1995

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Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformity.
 

Author(s): A P Roberts, A N Conner, J L Tolmie, J M Connor

Journal: J Bone Joint Surg Br. 1988 Jan;70(1):123-6.

 

Two siblings with spondylothoracic dysostosis, and two siblings and three unrelated children with spondylocostal dysostosis are described. Both conditions are inherited and characterised by malformed thoracic and lumbar vertebrae. Spondylothoracic dysostosis produces "crab-like" deformities ...

Last Updated: 4 Mar 1988

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Reviews from the PubMed Database

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The terms "Spondylothoracic dysostosis" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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