$Unique_ID{BRK04291} $Pretitle{} $Title{Trisomy 13 Syndrome} $Subject{Trisomy 13 Syndrome Patau's Syndrome Trisomy 13-15 Syndrome D Trisomy Syndrome } $Volume{} $Log{} Copyright (C) 1986 National Organization for Rare Disorders, Inc. 218: Trisomy 13 Syndrome ** IMPORTANT ** It is possible the main title of the article (Trisomy 13 Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find the alternate names and disorder subdivisions covered by this article. Synonyms Patau's Syndrome Trisomy 13-15 Syndrome D Trisomy 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. Trisomy 13 Syndrome is a genetic disorder which occurs in approximately 1 in 5,000 live births. It is characterized by midline anomalies, gross defects of the brain, and cleft lip and/or cleft palate in most cases. Symptoms Infants affected with Trisomy 13 Syndrome tend to be small at birth. Spells of interrupted breathing (apnea) in early infancy are frequent, and mental retardation is usually severe. Many affected children appear to be deaf. A moderately small head (microcephaly) with sloping forehead, wide joints, and openings between the parietal bones of the head are present. Gross anatomic defects of the brain, especially failure of the forebrain to divide properly (holoprosencephaly), are common. A hernial protrusion of the cord and its meninges through a defect in the vertebral canal (myelomeningocele) is found in almost 50% of cases. The entire eye is usually small (microphthalmia), and a defect of the iris tissue (coloboma), and faulty development of the retina (retinal dysplasia) occur frequently. The supraorbital ridges are shallow and palpebral fissures are usually slanted. Cleft lip, cleft palate, or both are present in most cases. The ears are abnormally shaped and unusually low-set. A single transverse crease on the palm, extra fingers and toes (polydactyly), and hyperconvex narrow fingernails are common. The fingers tend to be flexed, but not in the characteristic manner seen in Trisomy 18 Syndrome. The feet show posterior prominence of the heel, and there may be a rocker-bottom foot. Approximately 80% of cases show the following additional congenital anomalies: 1. An opening in the ventricular septum of the heart (ventricular septal defect) 2. Persistent blood vessel connecting the aorta to the pulmonary artery (patent ductus arteriosus) 3. An opening in the septum between the two atria in the heart (atrial septal defect) 4. Abnormalities in the pulmonary and/or aortic valves. (For more information on specific heart anomalies, see articles in the Rare Disease Database.) Location of the heart in the right side of the chest (dextrocardia) is common as well. Tumors made up of newly formed capillary blood vessels (capillary hemangiomas), especially on the forehead in the midline, may also be present. Other midline defects include dermal sinuses on the scalp and loose folds of skin over the back of the neck. The genitalia are frequently abnormal in both sexes. Failure of the testes to descend into the scrotum (cryptorchidism) and abnormally developed scrotum may occur in males. A uterus with horn-shaped branches (bicornuate) sometimes occurs in females. Hematologically, there is an increased frequency of nuclear projections in polymorphonuclear leukocytes and a persistence of fetal hemoglobin. Causes An additional chromosome 13 causes the abnormalities of this genetic, developmental disorder, Trisomy 13 Syndrome. Affected Population Trisomy 13 Syndrome occurs in one in 5,000 live births. Males and females of all nationalities and races are affected equally. Therapies: Standard Treatment for Trisomy 13 Syndrome is symptomatic and supportive. Special education, physical therapy and other medical, social, or vocational services are of benefit to the patient, and are often necessary for the child to reach his/her full potential. 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 Trisomy 13 Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Support Organization for Trisomy 18/13 (SOFT 18/13) National Headquarters 4625 Lindell Blvd., Suite 501 St. Louis, MO 63108 (314) 367-0055 S.O.F.T. Canada Inc. 1214 Concession 5 West RR2 Waterdown, Ontario LOR 2H2 (416) 659-3216 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 Association for Retarded Citizens of the U.S. P.O. Box 6109 Arlington, TX 76005 (817) 640-0204 (800) 433-5255 Mental Retardation Association of America 211 East 300 South, Suite 212 Salt Lake City, UT 84111 (801) 328-1575 In Touch 10 Norman Road Sale, Cheshire M33 3DF Hants, England 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 SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed., Kenneth L. Jones, M.D., W.B. Saunders, Co. 1988. Pp. 20-5.