Spondylospinal thoracic dysostosis
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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. It does not appear to be compatible with life.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
Last updated: 4/15/2010
- 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.
- 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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- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.