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.
Hereditary Onychoosteodysplasia (HOOD)
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 USA Tel: (813)636-8100 Fax: (813)636-8122 Tel: (800)749-2257 Email: email@example.com Internet: http://www.aakp.org
American Kidney Fund, Inc. 11921 Rockville Pike Suite 300 Rockville, MD 20852 USA Tel: (800)638-8299 Email: firstname.lastname@example.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: email@example.com 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: firstname.lastname@example.org Internet: http://www.kidney.niddk.nih.gov/
Nail Patella Syndrome Worldwide 14980 Stream Valley Court Haymarket, VA 20169 USA Tel: (703)626-6852 Email: email@example.com 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: firstname.lastname@example.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: email@example.com 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
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Last Updated: 4/11/2008 Copyright 1988, 1989, 1997, 1998, 1999, 2001, 2003 National Organization for Rare Disorders, Inc.
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