Nail Patella Syndrome

Important

It is possible that the main title of the report Nail Patella Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

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• Fong Disease
• Onychoosteodysplasia
• NPS
• Turner-Kieser Syndrome
• Hereditary Onychoosteodysplasia (HOOD)

Disorder Subdivisions

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• None

General Discussion

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Nail-patella syndrome (NPS) is a rare genetic disorder that is usually apparent at birth or during early childhood. Although the symptoms and physical characteristics associated with NPS may vary, characteristic abnormalities tend to include improper development (dysplasia) of the fingernails and toenails; absence (aplasia) and/or underdevelopment (hypoplasia) of the knee caps (patellae); underdevelopment of certain bones and/or webbing of skin at the bend of the elbow(s); and/or abnormal projections of bone from the upper (superior) portion of both sides of the hipbone (bilateral iliac horns).



In addition, some individuals within certain families (kindreds) may have abnormally increased fluid pressure of the eyes (glaucoma). The condition results due to progressive blockage of the outflow of fluid (aqueous humor) from the front chamber of the eyes (open-angle glaucoma). Without appropriate treatment, the gradual increase in fluid pressure may cause increased narrowing of visual fields and eventual blindness. Other eye (ocular) abnormalities may also be associated with NPS. For example, in some affected individuals, the inner margin (pupillary margin) of the colored portion of the eyes (irides) may appear abnormally dark (hyperpigmentation) and "cloverleaf shaped" (Lester iris).



Approximately 30 to 40 percent of individuals with NPS may also develop abnormalities in kidney function (nephropathy) that may be apparent during childhood or later in life. Nail-patella Syndrome is inherited as an autosomal dominant trait.

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Resources

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American Association of Kidney Patients

3505 East Frontage Road

Suite 315

Tampa, FL 33607

USA

Tel: 8136368100

Fax: 8136368122

Tel: 8007492257

Email: info@aakp.org

Internet: http://www.aakp.org



American Kidney Fund, Inc.

6110 Executive Boulevard

Suite 1010

Rockville, MD 20852

USA

Tel: 3018813052

Fax: 3018810898

Tel: 8006388299

Email: helpline@kindeyfund.org

Internet: http://www.kidneyfund.org



National Kidney Foundation

30 East 33rd Street

New York, NY 10016

Tel: (212)889-2210

Fax: (212)689-9261

Tel: (800)622-9010

Email: info@kidney.org

Internet: http://www.kidney.org



American Urological Association Foundation

1000 Corporate Blvd.

Linthicum, MD 21090

USA

Tel: 4106893700

Fax: 4106893800

Tel: 8667464282

Email: auafoundation@auafoundation.org

Internet: http://www.auafoundation.org



NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse

1 AMS Circle

Bethesda, MD 20892-3675

USA

Tel: 3014954484

Fax: 3017186366

Tel: 8772264267

TDD: 3015652966

Email: NIAMSinfo@mail.nih.gov

Internet: http://www.niams.nih.gov



NIH/National Kidney and Urologic Diseases Information Clearinghouse

3 Information Way

Bethesda, MD 20892-3580

Tel: (800)891-5390

Email: nkudic@info.niddk.nih.gov

Internet: http://kidney.niddk.nih.gov/



Nail-Patella Syndrome (NPS) Web Site



Email: PACALI@aol.com

Internet: http://www.members.aol.com/PACALI/npspage.html



Nail Patella Syndrome Networking/Support Group

67 Woodlake Dr

Holland, PA 18966

USA

Tel: 2155044659

Fax: 2155044659

Email: pacali@aol.com

Internet: http://www.hometown.aol.com/pacali/npspage.html



Nail Patella Syndrome Worldwide

25826 Norrington Square

South Riding, VA 20152

USA

Tel: 7035425597

Fax: 7035425597

Email: npsw@nailpatella.org

Internet: http://www.nailpatella.org

For a Complete Report

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This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:   5/13/2003

Copyright   1988, 1989, 1997, 1998, 1999, 2001, 2003 National Organization for Rare Disorders, Inc.