$Unique_ID{BRK03883} $Pretitle{} $Title{Ivemark Syndrome} $Subject{Ivemark Syndrome Asplenia Syndrome Bilateral Right-Sidedness Sequence Splenic Agenesis Syndrome Bilateral Left-Sidedness Sequence } $Volume{} $Log{} Copyright (C) 1989 National Organization for Rare Disorders, Inc. 740: Ivemark Syndrome ** IMPORTANT ** It is possible that the main title of the article (Ivemark 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 Asplenia Syndrome Bilateral Right-Sidedness Sequence Splenic Agenesis Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Bilateral Left-Sidedness Sequence 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. Ivemark Syndrome is a rare progressive disorder usually evident at birth. It is characterized by the absence of a spleen, malformations of the cardiovascular system and abnormal displacement of the abdomen and intestines. Symptoms Ivemark Syndrome is characterized by the absence of the spleen and multiple heart, lung, genitourinary and gastrointestinal abnormalities. There may be an abnormal displacement of the stomach to the right or left side of the body. The lungs are mirror imaged (isomerism) with both resembling a normal right lung. The bowel may be rotated improperly and may have an obstruction due to a knotting or twisting of the intestinal tract (volvulus). Other symptoms may include shortness of breath (dyspnea), a blue discoloration of the skin (cyanosis), lack of vitality, generalized wasting and cardiac failure due to the severe heart abnormalities. Physical and mental development may be retarded. Diagnosis of Ivemark Syndrome is usually made by blood smears that show the presence of smooth, round nuclear particles (Howell-Jolly or Heinz bodies) seen in slides of stained red blood cells (erythrocytes). Causes The exact cause of Ivemark Syndrome is not known. Some scientists believe it may be inherited as an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Ivemark Syndrome is a rare disorder that affects males three times more often than females. Related Disorders Symptoms of the following disorder can be similar to Ivemark Syndrome. Comparisons may be useful for a differential diagnosis. Bilateral Left-Sidedness Sequence or Polysplenia Syndrome is a rare disorder characterized by two or more spleens and multiple abnormalities of the heart, lungs and gastrointestinal tract. The stomach may be on either side of the body with a liver on both sides. The lungs are mirror imaged resembling a normal left lung and the intestines may be malrotated. Therapies: Standard Ultrasound examination of a pregnant woman can identify a fetus with Ivemark Syndrome prenatally. After birth, antibiotic therapy may be prescribed to help reduce the incidence of infection. Surgery may be indicated to relieve some of the symptoms or abnormalities associated with this syndrome. 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 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 Ivemark 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 (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For genetic information and genetic counselling 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. 826 SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed., Kenneth L. Jones, M.D.; W.B. Saunders Co. 1988. Pp. 543. IVEMARK SYNDROME IN SIBLINGS. R. Hurwitz, et al.; CLIN GENET, (July 1982, issue 22 (1)). Pp. 7-11. PRENATAL DIAGNOSIS OF ASPLENIA/POLYSPLENIA SYNDROME. D. Chitayat, et al.; AM J OBSTET GYNECOL, (May 1988, issue 158 (5)). Pp. 1085-1087. PROLONGED AND FUNCTIONAL SURVIVAL WITH THE ASPLENIA SYNDROME. M. Wolfe, et al.; AM J MED, (December 1986, issue 81 (6)). Pp. 1089-1091. THE ASPLENIA SYNDROME: AN EXPLANATION FOR ABSENCE OF THE SPLEEN. I. Monie; TERATOLOGY, (June 1983, issue 27, (3)). Pp. 301-304. CONGENITAL ASPLENIA: IMMUNOLOGIC ASSESSMENT AND A CLINICAL REVIEW OF EIGHT SURVIVING PATIENTS. W. Bigger, et al.; PEDIATRICS, (April 1981, issue 67 (4)). Pp. 548-551. CONGENITAL ABNORMALITIES AND ANOMALIES OF THE GASTROINTESTINAL TRACT. H. Mishalany, et al.; SURGERY (January 1982, issue 91 (1)). Pp. 38-41. ASPLENIA SYNDROME WITH ATYPICAL CARDIAC ANOMALIES. W. Berman, et al.; PEDIATR CARDIOL (1982, issue 3 (1)). Pp. 35-38.