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$Unique_ID{BRK03422}
$Pretitle{}
$Title{Acrodysostosis}
$Subject{Acrodysostosis Peripheral Dysostosis PNM McCune-Albright Syndrome
Turner Syndrome}
$Volume{}
$Log{}
Copyright (C) 1989 National Organization for Rare Disorders, Inc.
613:
Acrodysostosis
** IMPORTANT **
It is possible that the main title of the article (Acrodysostosis) is not
the name you expected. Please check the SYNONYM listing to find the
alternate names and disorder subdivisions covered by this article.
Synonyms
Peripheral Dysostosis
PNM
Information on the following diseases can be found in the Related
Disorders section of this report:
McCune-Albright Syndrome
Turner 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.
Acrodysostosis is a very rare genetic disorder. Major symptoms may
include extremely shortened hands and feet, a flattened nose, short stature
and mental retardation.
Symptoms
Acrodysostosis is characterized by hands and feet that are short with stubby
fingers and toes, and broad short nails. Short at birth, growth retardation
continues over the years. The patients exhibit faces with flattened nose
bridges and a short, wide, "pug" appearance. Underdeveloped jaws, improper
alignment of teeth, widely spaced eyes and mental retardation also occur.
Deformity of bones in the arms, legs and elbows occurs as well as early
fusion of these bones. The head is abnormally short and broad.
Causes
The exact cause of Acrodysostosis is not known, although it has been found
that the parents of these patients are usually older than normal. The
disorder is thought to be inherited as an autosomal dominant trait. (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
Acrodysostosis is a very rare disorder and affects females twice as often as
males.
Related Disorders
Symptoms of the following disorders can be similar to those of
Acrodysostosis. Comparisons may be useful for a differential diagnosis:
McCune-Albright Syndrome manifests symptoms of early sexual development,
disabling bone-related pain, and spots of discolored skin. The change in
bone integrity produces pain and increasing deformity. Additional symptoms
associated with the disorder may include an increased functioning of the
thyroid gland, and an enlargement of the extremities of the skeleton.
Although people with this disorder are exceptionally tall during childhood,
they stop growing prematurely and are unusually short stature in adulthood.
(For more information on this disorder, choose "McCune-Albright" as your
search term in the Rare Disease Database).
Turner Syndrome is a genetic disorder affecting females which is
characterized by lack of sexual development, small stature, a webbed neck,
heart defects, and various other congenital abnormalities. Growth is slowed
and the individual remains unusually short, often under four feet tall at
adulthood. The jaw may have an unusual shape, and the palate may be arched.
Intelligence is only rarely impaired. (For more information on this
disorder, choose "Turner" as your search term in the Rare Disease Database).
Therapies: Standard
Treatment of Acrodysostosis may include plastic surgery in severe cases.
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 April
1989. 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 Acrodysostosis, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
International Center for Skeletal Dysplasia
St. Joseph Hospital
7620 York Road
Towson, MD 21204
(301)337-1250
NIH/National Institute of Child Health and Human Development (NICHHD)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
The Magic Foundation
1327 N. Harlem Ave.
Oak Park, IL 60302
(708) 383-0808
Human Growth Foundation (HGF)
7777 Leesburg Pike
P.O. Box 3090
Falls Church, VA 22043
(703) 883-1773
(800) 451-6434
Parents of Dwarfed Children
11524 Colt Terrace
Silver Spring, MD 20902
Little People of America
P.O. Box 633
San Bruno, CA 94066
(415) 589-0695
Short Stature Foundation
17200 Jamboree Rd., Suite J
Irvine, CA 92714-5828
(714) 474-4554
800-24 DWARF
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. 13, 1320-1322.
ACRODYSPLASIAS PERIPHERAL DYSOSTOSIS, ACRODYSOSTODIS AND THIEMANN'S
DISEASE. A. Giedion, Clin Orthop (January and February, 1976, issue (114)).
Pp. 107-115.
ACRODYSOSTOSIS COINCIDING WITH PSEUDOHYPOPARATHYROIDISM AND PSEUDOPSEU R.
C. Ablow, et al.; Am J Roentgenol (January, 1977, issue 128 (1)). Pp. 95-99.
ACROIDYSOSTOSIS. A CASE OF PERIPHERAL DYSOSTOSIS, NASAL HYPOPLASIA,
MENTAL RETARDATION AND IMPAIRED HEARING. S. Reiter, Pediatr Radio (April,
1978, issue 7 (1)). Pp. 53-55.