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Diseases

Genetic and Rare Diseases Information Center (GARD)

Nail-patella syndrome


Other Names for this Disease
  • NPS 1
  • Onychoosteodysplasia
  • Turner-Kieser syndrome
  • Fong disease
  • Osteo-Onychodysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Nail-patella syndrome is an inherited condition characterized by abnormalities of the nails, knees, elbows, and pelvis. Some affected people may also experience problems in other areas of the body such as the kidneys and eyes. The severity of the condition and the associated signs and symptoms can vary significantly from person to person, even among members of the same family. Nail-patella syndrome is caused by changes (mutations) in the LMX1B gene and is inherited in an autosomal dominant manner.[1][2][3] Treatment is supportive and based on the signs and symptoms present in each person.[3][2]
Last updated: 2/2/2016

References

  1. Nail-patella syndrome. Genetics Home Reference. April 2013; http://ghr.nlm.nih.gov/condition/nail-patella-syndrome.
  2. Elizabeth Sweeney, MB ChB, FRCP, DRCOG, MD, Julie E Hoover-Fong, MD, PhD, and Iain McIntosh, PhD. Nail-Patella Syndrome. GeneReviews. November 2014; http://www.ncbi.nlm.nih.gov/books/NBK1132/.
  3. Julie Hoover-Fong, MD, PhD, FACMG. Genetics of Nail-Patella Syndrome. Medscape Reference. November 2014; http://emedicine.medscape.com/article/947391-overview.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
    Dermatologic Manifestations of Nail-Patella Syndrome
    Genetics of Nail-Patella Syndrome
  • The Merck Manual for health care professionals provides information on Nail-patella syndrome.
  • 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. 
  • 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.
Other Names for this Disease
  • NPS 1
  • Onychoosteodysplasia
  • Turner-Kieser syndrome
  • Fong disease
  • Osteo-Onychodysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.