Nail patella syndrome

Common Name(s)

Nail patella syndrome, Nail-Patella Syndrome

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. This condition is transmitted in an autosomal dominant fashion and results from mutations in the LMX1B gene.  Treatment is symptomatic and supportive.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Nail patella syndrome" for support, advocacy or research.

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Nail Patella Syndrome Networking/Support Group

Our mission is to provideup-to-date information, support and networking opportunities to people with NPS, their families and their doctors.

http://health.groups.yahoo.com/group/Nail_Patella_Syndrome/

Last Updated: 24 Nov 2009

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Nail Patella Syndrome Worldwide

We strive to raise awareness for Nail Patella syndrome in the medical and lay communities. This is achieved by sponsoring yearly conferences and providing educational materials.

Last Updated: 2 Aug 2010

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Nail patella syndrome" for support, advocacy or research.

Logo
Nail Patella Syndrome Networking/Support Group

Our mission is to provideup-to-date information, support and networking opportunities to people with NPS, their families and their doctors.

http://health.groups.yahoo.com/group/Nail_Patella_Syndrome/

Last Updated: 24 Nov 2009

View Details
Logo
Nail Patella Syndrome Worldwide

We strive to raise awareness for Nail Patella syndrome in the medical and lay communities. This is achieved by sponsoring yearly conferences and providing educational materials.

Last Updated: 2 Aug 2010

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Nail patella syndrome" returned 42 free, full-text research articles on human participants. First 3 results:

A case of nail-patella syndrome associated with thyrotoxicosis.
 

Author(s): B Haras, F Vulpoi, Gh Onose

Journal: J Med Life. 2012 Feb;5(1):126-9.

 

Nail-patella syndrome, also known as hereditary onycho-osteodystrophy, is a rare autosomal dominant disorder with pleiotropic phenotypic expression.The present report is of a nail-patella syndrome patient, a 26-year-old female, admitted to our NeuroMuscular Rehabilitation Clinic Division ...

Last Updated: 10 May 2012

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Nail patella syndrome: a rare cause of renal failure in a young adult.
 

Author(s): Nagendra Boopathy Senguttuvan, Arjun Sivaraman, Devasenathipathy Kandasamy, Kanniraj Marimuthu

Journal: Pan Afr Med J. 2011 ;9():31.

 

Nail Patella Syndrome (NPS) is a rare hereditary disease affecting multiple systems with predominant involvement of Kidney, Bones and Nails and Eyes. We report a case of NPS which presented as renal failure in a 22 year old male. The patient was admitted with decreased urine output ...

Last Updated: 6 Dec 2011

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c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma.
 

Author(s): Pablo Romero, Felipe Sanhueza, Pamela Lopez, Loreto Reyes, Luisa Herrera

Journal: Mol. Vis.. 2011 ;17():1929-39.

 

To report the clinical, ophthalmic, extraophthalmic, and genetic characteristics of nail-patella syndrome (NPS) in a Chilean family and to investigate the expressivity of open angle glaucoma (OAG) and ocular hypertension (OHT) in the family members.

Last Updated: 18 Aug 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Nail patella syndrome" returned 2 free, full-text review articles on human participants. First 3 results:

Kidney disease in nail-patella syndrome.
 

Author(s): Kevin V Lemley

Journal: Pediatr. Nephrol.. 2009 Dec;24(12):2345-54.

 

Nail-patella syndrome (NPS) is a pleiotropic autosomal-dominant disorder due to mutations in the gene LMX1B. It has traditionally been characterized by a tetrad of dermatologic and musculoskeletal abnormalities. However, one of the most serious manifestations of NPS is kidney disease, ...

Last Updated: 28 Oct 2009

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The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome.
 

Author(s): E M Bongers, H Van Bokhoven, M N Van Thienen, M A Kooyman, S E Van Beersum, C Boetes, N V Knoers, B C Hamel

Journal: J. Med. Genet.. 2001 Mar;38(3):209-14.

 

Last Updated: 13 Apr 2001

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.