$Unique_ID{BRK04037} $Pretitle{} $Title{Nail-Patella Syndrome} $Subject{Nail-Patella Syndrome NPS Hereditary Onychoosteodysplasia Turner-Kieser Syndrome Fong Syndrome Nail-Patella-Like Renal Disease Alport's Syndrome } $Volume{} $Log{} Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 567: Nail-Patella Syndrome ** IMPORTANT ** It is possible that the main title of the article (Nail-Patella Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms NPS Hereditary Onychoosteodysplasia Turner-Kieser Syndrome Fong Syndrome DISORDER SUBDIVISIONS Nail-Patella-Like Renal Disease Information on the following diseases can be found in the Related Disorders section of this report: Alport's Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Nail-Patella Syndrome is a rare genetic nail, bone and kidney disorder linked to the ABO blood group. Major symptoms may include the absence or underdevelopment of finger and toe nails, and kneecaps (patella). The pelvic bone may be overgrown. Underdevelopment of the bones in the elbows is usually present and kidney problems may also occur. Symptoms The most common feature of Nail-Patella Syndrome is missing or excessively small kneecaps. Additionally, frequent dislocation of the kneecaps occurs due to joint deformity. The thumbnail is often affected and is either missing or cracked; it may have ridges or other deformities. The range of movement of the elbow is limited; either it is unable to extend properly or to relax its position completely. The pelvic bone develops bony overgrowths called iliac spurs. About half of the patients with Nail-Patella Syndrome also have kidney problems such as passing of protein or blood in the urine. Without treatment, kidney failure could occur. Causes The exact cause of Nail-Patella Syndrome is not known. It is thought to be inherited as an autosomal dominant trait linked to the ABO blood group. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child.) Affected Population Nail-Patella Syndrome is a rare disorder affecting females approximately ten percent more often than males. Related Disorders Symptoms of the following disorders can be similar to those of Nail-Patella Syndrome. Comparisons may be useful for a differential diagnosis: Alport's Syndrome is a hereditary kidney disease characterized by blood and protein in the urine, kidney function impairment, nerve deafness and eye abnormalities. It occurs more often in females than males. However, the disease is more serious in males than females. Often the females have few or no sign of the disease while the males develop kidney problems during their twenties or thirties. Nerve deafness is more frequently present than eye abnormalities, which may include cataracts and other problems. (For more information on this disorder, choose "Alport" as your search term in the Rare Disease Database). The following disorder may be associated with Nail-Patella Syndrome as secondary characteristics. They are not necessary for a differential diagnosis: Nail-Patella-Like Renal Disease (Nail-Patella Syndrome Type), involves the kidneys without the symptoms of the bone and nail syndrome. However, electron microscopic tests indicate that the internal abnormal changes are the same. Therapies: Standard Treatment of Kidney disease associated with Nail-Patella Syndrome may consist of the use of dialysis and possibly transplants when severe kidney problems arise. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through December 1988. 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. Resources For more information on Nail-Patella Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Kidney Foundation 2 Park Avenue New York, NY 10016 (212) 889-2210 (800) 622-9010 American Kidney Fund 6110 Executive Blvd., Suite 1010 Rockville, MD 20852 (301) 881-3052 (800) 638-8299 (800) 492-8361 (MD) National Kidney and Urologic Diseases Information Clearinghouse Box NKUDIC Bethesda, MD 20892 (301) 468-6345 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp.513, 1153. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp.878. AN AUTOSOMAL RECESSIVE DISORDER, WITH GLOMERULAR BASEMENT MEMBRANE ABNORMALITIES SIMILAR TO THOSE SEEN IN THE NAIL PATELLA SYNDROME; REPORT OF A KINDRED. J. R. Salcedo, Am J Med Genet (1984, issue 19). Pp. 579-584.