$Unique_ID{BRK04095} $Pretitle{} $Title{Penta X Syndrome} $Subject{Penta X Syndrome XXXXX Syndrome 49,XXXXX Syndrome Down Syndrome} $Volume{} $Log{} Copyright (C) 1991 National Organization for Rare Disorders, Inc. 790: Penta X Syndrome ** IMPORTANT ** It is possible that the main title of the article (Penta X 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 XXXXX Syndrome 49,XXXXX Syndrome Information on the following disease can be found in the Related Disorders section of this report: Down 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. Penta X Syndrome is a chromosomal disorder which affects females. It is caused by the presence of extra X chromosomes. Major symptoms may include mental and growth deficiencies, upward slanting eyes with excess skin over the inner corners of the eyes (epicanthal folds), and an unclosed blood vessel that connects the lung's left artery to the heart's main artery (patent ductus arteriosus). Symptoms Individuals with Penta X may have mental deficiencies, failure to thrive, and growth deficiencies that may result in short stature. The face may be unusually round, the head small, and the eyes widely spaced (hypertelorism) and upwardly slanted. Excess skin over the inner corner of the eyes (epicanthal folds) may occur. A short neck, a low hairline, low-set ears, teeth defects such as abnormally short roots, and deformities of the iris in the eye may also occur. In the developing fetus, there is a blood vessel that connects the lung's left artery to the aorta, the heart's main artery. This blood vessel normally closes at the age of about twenty-four hours. When it fails to close it is called patent ductus arteriosus, and it may cause problems of blood circulation as well as heart problems. The hands of females with Penta X Syndrome may be small with unusual creases across the palms (simian creases). Foot deformities may also occur causing only the ball and the sides of the foot to touch the ground (talipes equinovarus). Multiple joint dislocations may affect the shoulder, elbow, hips, wrists, or fingers. Additionally, the kidneys may develop abnormally (renal dysplasia). Causes Penta X Syndrome is a genetic disorder caused by the presence of extra X chromosomes. Normal females have 46 chromosomes, two of which are X chromosomes. Penta X individuals have 49 chromosomes, five of which are X chromosomes. Affected Population Penta X Syndrome is a very rare disorder affecting only females before birth. Related Disorders Symptoms of the following disorders can be similar to those of Penta X Syndrome. Comparisons may be useful for a differential diagnosis: Down Syndrome is the most common and readily identifiable genetic condition associated with mental retardation. It is caused by an extra chromosome 21. There are over 50 clinical signs of Down Syndrome, but it is rare to find all or even most of them in one person. Some common characteristics include: mental retardation, upward slanting eyes with excess skin at the inner corners (epicanthal folds), unusual creases across the palms (simian creases), short neck and hands, small head and ears, poor muscle tone, fine, soft, and often sparse hair, and sometimes heart and respiratory problems. Down Syndrome affects males and females. (For more information on this disorder, choose "Down" as your search term in the Rare Disease Database). Therapies: Standard The open fetal vessel (patent ductus arteriosus) of Penta X individuals can be dealt with surgically. Other treatment is symptomatic and supportive. Special education, physical therapy, and other medical, social, or vocational services may be of benefit to help the child to reach his/her potential. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational This disease entry is based upon medical information available through June 1991. 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 Penta X Syndrome, 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) 496-5751 National Association for Retarded Citizens P.O. Box 6109 Arlington, TX 76011 (817) 640-0204 1-800-433-5255 For information about education of children with learning disabilities: National Information Center for Handicapped Children and Youth P.O. Box 1492 Washington, D.C. 20013 (703) 528-8480 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 SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: Kenneth L. Jones; W.B. Saunders Co., 1988. Pp. 73. 49,XXXXX SYNDROME: R. Fragoso, et al.; Ann Genet (1982, issue 25 (3)). Pp. 145-148.