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Nail patella syndrome


Other Names for this Disease
  • Arthro-Onychodysplasia
  • Fong disease
  • NPS 1
  • Onychoosteodysplasia
  • Osteo-Onychodysplasia
More Names
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Overview


Nail patella syndrome is an inherited condition characterized by abnormalities of the nails, knees, elbows, and pelvis. Other areas of the body may also be affected, particularly the eyes and kidneys. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family.[1] This condition is transmitted in an autosomal dominant fashion and results from mutations in the LMX1B gene.[1][2] Treatment is symptomatic and supportive.[2][3]
Last updated: 7/18/2011

References

  1. Nail-patella syndrome. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/nail-patella-syndrome. Accessed 7/18/2011.
  2. Niaudet P. Nail-patella syndrome. Orphanet. 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2614. Accessed 7/18/2011.
  3. Sweeney E, Hoover-Fong JE, McIntosh I. Nail-Patella Syndrome. GeneReviews. 2009; http://www.ncbi.nlm.nih.gov/books/NBK1132/. Accessed 7/18/2011.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • 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 Nail patella syndrome. Click on the link to view a sample search on this topic.