Nail Patella Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Nail Patella Syndrome is not the name you expected.
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.
American Association of Kidney Patients
- 2701 North Rocky Point Drive, Suite 150
- Tampa, FL 33607
- Tel: (813)636-8100
- Fax: (813)636-8122
- Tel: (800)749-2257
- Email: firstname.lastname@example.org
- Website: http://www.aakp.org
American Kidney Fund, Inc.
- 11921 Rockville Pike
- Suite 300
- Rockville, MD 20852
- Tel: (800)638-8299
- Email: email@example.com
- Website: http://www.kidneyfund.org
European Skeletal Dysplasia Network
- Institute of Genetic Medicine
- Newcastle University
- Newcastle upon Tyne, NE1 3BZ
- United Kingdom
- Tel: 441612755642
- Fax: 441612755082
- Email: firstname.lastname@example.org
- Website: http://www.esdn.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
- Website: http://rarediseases.info.nih.gov/GARD/
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
- Information Clearinghouse
- One AMS Circle
- Bethesda, MD 20892-3675
- Tel: (301)495-4484
- Fax: (301)718-6366
- Tel: (877)226-4267
- Email: NIAMSinfo@mail.nih.gov
- Website: 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
- Email: email@example.com
- Website: http://www.kidney.niddk.nih.gov/
Nail Patella Syndrome Worldwide
- 14980 Stream Valley Court
- Haymarket, VA 20169
- Tel: (703)626-6852
- Email: firstname.lastname@example.org
- Website: http://www.npsw.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: email@example.com
- Website: http://www.kidney.org
Urology Care Foundation
- 1000 Corporate Blvd
- Linthicum, MD 21090
- Tel: (410)689-3700
- Fax: (410)689-3896
- Tel: (800)828-7866
- Email: Info@UrologyCareFoundation.org
- Website: http://www.urologyhealth.org/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.
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.
Last Updated: 4/11/2008
Copyright 2003 National Organization for Rare Disorders, Inc.
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