Other Names for this Disease
- NPS 1
- Turner-Kieser syndrome
- Fong disease
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mutations) in the LMX1B gene and is inherited in an autosomal dominant manner. Treatment is supportive and based on the signs and symptoms present in each person.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 (
Last updated: 2/2/2016
- Nail-patella syndrome. Genetics Home Reference. April 2013; http://ghr.nlm.nih.gov/condition/nail-patella-syndrome.
- 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/.
- Julie Hoover-Fong, MD, PhD, FACMG. Genetics of Nail-Patella Syndrome. Medscape Reference. November 2014; http://emedicine.medscape.com/article/947391-overview.
- Genetics Home Reference (GHR) contains information on Nail-patella syndrome. This website is maintained by the National Library of Medicine.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- 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.
- 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.
- 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.