National Organization for Rare Disorders, Inc.

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

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

Disorder Subdivisions

• None

General Discussion

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

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

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.

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