Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Nail Patella Syndrome


Synonyms of Nail Patella Syndrome
  • Fong Disease
  • Hereditary Onychoosteodysplasia (HOOD)
  • NPS
  • Onychoosteodysplasia
  • Turner-Kieser Syndrome

Disorder Subdivisions



    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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    Organizations related to Nail Patella Syndrome
    • American Association of Kidney Patients
      3505 East Frontage Road
      Tampa FL 33607
      Phone #: 813-636-8100
      800 #: 800-749-2257
      e-mail: info@aakp.org
      Home page: http://www.aakp.org
    • American Kidney Fund, Inc.
      6110 Executive Boulevard
      Rockville MD 20852
      Phone #: 301-881-3052
      800 #: 800-638-8299
      e-mail: helpline@kideyfund.org
      Home page: http://www.kidneyfund.org
    • American Urological Association Foundation
      1000 Corporate Blvd.
      Linthicum MD 21090
      Phone #: 410-689-3700
      800 #: 866-746-4282
      e-mail: auafoundation@auafoundation.org
      Home page: http://www.auafoundation.org
    • European Skeletal Dysplasia Network (ESDN)
      Wellcome Trust Centre for Cell-Matrix Research
      Manchester None M13 9PT
      Phone #: 44 -161- 275 5642
      800 #: N/A
      e-mail: info@esdn.org
      Home page: http://www.esdn.org
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • Madisons Foundation
      PO Box 241956
      Los Angeles CA 90024
      Phone #: 310-264-0826
      800 #: N/A
      e-mail: getinfo@madisonsfoundation.org
      Home page: http://www.madisonsfoundation.org
    • NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
      1 AMS Circle
      Bethesda MD 20892-3675
      Phone #: 301-495-4484
      800 #: 877-226-4267
      e-mail: NIAMSinfo@mail.nih.gov
      Home page: http://www.niams.nih.gov/Health_Info
    • NIH/National Kidney and Urologic Diseases Information Clearinghouse
      3 Information Way
      Bethesda MD 20892-3580
      Phone #: N/A
      800 #: 800-891-5390
      e-mail: nkudic@info.niddk.nih.gov
      Home page: http://kidney.niddk.nih.gov/
    • Nail Patella Syndrome Networking/Support Group
      67 Woodlake Dr
      Holland PA 18966
      Phone #: 215-504-4659
      800 #: --
      e-mail: pacali@aol.com
      Home page: http://www.hometown.aol.com/pacali/npspage.html
    • Nail Patella Syndrome Worldwide
      14980 Stream Valley Court
      Haymarket VA 20169
      Phone #: 703-626-6852
      800 #: --
      e-mail: N/A
      Home page: http://www.npsw.org
    • National Kidney Foundation
      30 East 33rd Street
      New York NY 10016
      Phone #: 212-889-2210
      800 #: 800-622-9010
      e-mail: info@kidney.org
      Home page: http://www.kidney.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