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Nail Patella Syndrome

National Organization for Rare Disorders, Inc.

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.

Resources

American Association of Kidney Patients
2701 North Rocky Point Drive, Suite 150
Tampa, FL 33607
USA
Tel: (813)636-8100
Fax: (813)636-8122
Tel: (800)749-2257
Email: info@aakp.org
Internet: http://www.aakp.org

American Kidney Fund, Inc.
11921 Rockville Pike
Suite 300
Rockville, MD 20852
USA
Tel: (800)638-8299
Email: helpline@kidneyfund.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

Urology Care Foundation
1000 Corporate Blvd
Linthicum, MD 21090
USA
Tel: (410)689-3700
Fax: (410)689-3896
Tel: (800)828-7866
Email: Info@UrologyCareFoundation.org
Internet: http://www.urologyhealth.org/

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
Information Clearinghouse
One AMS Circle
Bethesda, MD 20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
TDD: (301)565-2966
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
Fax: (703)738-4929
Tel: (800)891-5390
TDD: (866)569-1162
Email: nkudic@info.niddk.nih.gov
Internet: http://www.kidney.niddk.nih.gov/

Nail Patella Syndrome Worldwide
14980 Stream Valley Court
Haymarket, VA 20169
USA
Tel: (703)626-6852
Email: info@npsw.org
Internet: http://www.npsw.org

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

European Skeletal Dysplasia Network
Institute of Genetic Medicine
Newcastle University
International Centre for Life
Central Parkway
Newcastle upon Tyne, NE1 3BZ
United Kingdom
Tel: 441612755642
Fax: 441612755082
Email: info@esdn.org
Internet: http://www.esdn.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

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:  4/11/2008
Copyright  1988, 1989, 1997, 1998, 1999, 2001, 2003 National Organization for Rare Disorders, Inc.

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