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Diseases

Genetic and Rare Diseases Information Center (GARD)

Spondylospinal thoracic dysostosis


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Overview

Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized by a short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth. This condition is believed to be inherited in an autosomal recessive manner.[1][2] It does not appear to be compatible with life.[1]
Last updated: 4/15/2010

References

  1. Johnson VP, Keppen LD, Carpenter MS, Randall BB, Newby PE. Am J Med Genet. 1997; http://www.ncbi.nlm.nih.gov/pubmed/9066887. Accessed 1/27/2010.
  2. Spondylospinal Thoracic Dysostosis. Online Mendelian Inheritance in Man (OMIM). 2009; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601809. Accessed 1/27/2010.
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In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Spondylospinal thoracic dysostosis. Click on the link to view a sample search on this topic.
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.