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$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.