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.

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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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 47 free, full-text research articles on human participants. First 3 results:

Arthropathy and proteinuria: nail-patella syndrome revisited.
 

Author(s): Jamal Albishri

Journal:

 

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: 21 Nov 2014

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A microdeletion of chromosome 9q33.3 encompasses the entire LMX1B gene in a Chinese family with nail patella syndrome.
 

Author(s): Shujuan Jiang, Jiubin Zhang, Dan Huang, Yuanyuan Zhang, Xiaoliang Liu, Yinzhao Wang, Rong He, Yanyan Zhao

Journal:

 

Nail patella syndrome (NPS) is an autosomal dominant disorder characterized by nail malformations, patellar apoplasia, or patellar hypoplasia. Mutations within the LMX1B gene are found in 85% of families with NPS; thus, this gene has been characterized as the causative gene of NPS. ...

Last Updated: 8 Nov 2014

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Nail-patella syndrome. A case with a de novo mutation in the LMX1B gene not previously described.
 

Author(s): Naira Álvarez-Martín, María J Gamundi, Imma Hernan, Miguel Carballo, M Isabel Luis-Yanes, Víctor García-Nieto

Journal: Nefrologia. 2013 ;33(4):585-6.

 

Last Updated: 30 Jul 2013

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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 3 free, full-text review articles on human participants. First 3 results:

Correction of malformative patellar instability in patients with nail-patella syndrome: a case report and review of the literature.
 

Author(s): S Lippacher, E Mueller-Rossberg, H Reichel, M Nelitz

Journal: Orthop Traumatol Surg Res. 2013 Oct;99(6):749-54.

 

Nail-patella syndrome (NPS) or hereditary onycho-osteodysplasia is a relatively rare autosomal dominant disorder with the classic tetrad of fingernail abnormalities, hypoplastic patellae, radial head dislocation and iliac horns. The anatomic abnormalities in NPS often lead to subluxation ...

Last Updated: 7 Oct 2013

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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.