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. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Fong Disease
- Turner-Kieser Syndrome
- 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
3505 E. Frontage Road, Suite 315
Tampa, FL 33607
American Kidney Fund, Inc.
6110 Executive Boulevard
Rockville, MD 20852
National Kidney Foundation
30 East 33rd Street
New York, NY 10016
American Urological Association Foundation
1000 Corporate Blvd.
Linthicum, MD 21090
NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
NIH/National Kidney and Urologic Diseases Information Clearinghouse
3 Information Way
Bethesda, MD 20892-3580
Nail Patella Syndrome Networking/Support Group
67 Woodlake Dr
Holland, PA 18966
Nail Patella Syndrome Worldwide
14980 Stream Valley Court
Haymarket, VA 20169
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
European Skeletal Dysplasia Network (ESDN)
Wellcome Trust Centre for Cell-Matrix Research
Faculty of Life Sciences
University of Manchester
Michael Smith Building, Oxford Road
Manchester, M13 9PT
Tel: 44 161 275 5642
Fax: 44 161 275 5082
For a Complete Report
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