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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Kniest dysplasia


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Overview

Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing. It is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.[1]
Last updated: 5/20/2013

References

  1. Kniest dysplasia. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/kniest-dysplasia. Accessed 5/20/2013.
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Basic Information

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Kniest dysplasia. 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.