$Unique_ID{BRK04231} $Pretitle{} $Title{Spondyloepiphyseal Dysplasia Tarda} $Subject{Spondyloepiphyseal Dysplasia Tarda X-linked Spondyloepiphyseal Dysplasia SED Tarda } $Volume{} $Log{} Copyright (C) 1986, 1987, 1990 National Organization for Rare Disorders, Inc. 294: Spondyloepiphyseal Dysplasia Tarda ** IMPORTANT ** It is possible the main title of this article (Spondyloepiphyseal Dysplasia Tarda) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms X-linked Spondyloepiphyseal Dysplasia SED Tarda 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. Spondyloepiphyseal Dysplasia Tarda is a hereditary disorder which most often affects males. It is characterized by dwarfism and skeletal abnormalities. Symptoms Symptoms of SED Tarda are usually not apparent until 5 to 10 years of age, at which point spinal growth appears to stop. The shoulders assume a hunched appearance, the neck appears to become shorter and the chest broadens. During adolescence, the skeletal abnormalities may cause pain in the back, hips, shoulders, knees and ankles. As adults, patients with the disorder have a mild case of dwarfism, with a short trunk, large chest cage and relatively normal limb length. Hands, head and feet appear to be normal size, but height usually ranges from 4'4" to 5'2". Causes SED Tarda is believed to be caused by an X-linked recessive inheritance. (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. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males have only one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons.) Related Disorders Morquio Disease, or Mucopolysaccharidosis IV is an autosomal recessive inherited disorder detectable usually at 18 months of age. Its features include retarded growth, clouding of the cornea, hearing loss, and flow of blood back from the aorta into the left ventricle of the heart (aortic regurgitation). This disorder affects males and females equally. (For more information, choose "Morquio" as your search term in the Rare Disease Database.) Spondyloepiphyseal Dysplasia Congenita is a disorder with autosomal dominant inheritance which can have considerable variability in the severity of symptoms. It is characterized by flat facial features, myopia, retinal detachment, cleft palate, clubfoot, short-trunk dwarfism, a waddling gait and normally sized hands and feet. This disorder, which is often detectable at birth, affects males and females equally. (For more information, choose "SED" as your search term in the Rare Disease Database.) Multiple Epiphyseal Dysplasia, like SED Congenita, is caused by an autosomal dominant gene affecting males and females equally. The disorder is detectable between two and five years of age with the appearance of a waddling gait. Patients may experience pain as a result of osteoarthritic changes in the joints. Body size tends to be almost normal, with the exception of the hands and feet which are disproportionately small. Therapies: Standard Prevention of SED Tarda can be achieved through genetic counseling. Treatment of the disorder is supportive and symptomatic. Physical therapy is used to relieve joint stiffness and pain. Total hip replacement may eventually be the treatment of choice for severely debilitating osteoarthritis of the hips. Therapies: Investigational This disease entry is based upon medical information available through January 1990. 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 Spondyloepiphyseal Dysplasia Tarda, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health and Human Development 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 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 National Cleft Palate Association 1218 Grandview Ave. Pittsburgh, PA 15211 1-800-24CLEFT 1-800-23CLEFT For information on genetics and genetic counseling referrals, please contact: 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 BIRTH DEFECTS COMPENDIUM, 2nd ed: Daniel Bergsma, ed; March of Dimes, 1979. Pp. 970-1.