$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.