$Unique_ID{BRK03981} $Pretitle{} $Title{Meckel Syndrome} $Subject{Meckel Syndrome Meckel-Gruber Syndrome Gruber Syndrome Dysencephalia Splanchnocystica Smith-Lemli-Opitz Syndrome (SLO Syndrome; RSH Syndrome) Joubert Syndrome Potter's Syndrome Ullrich-Feichtiger Syndrome } $Volume{} $Log{} Copyright (C) 1989 National Organization for Rare Disorders, Inc. 661: Meckel Syndrome ** IMPORTANT ** It is possible that the main title of the article (Meckel 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 Meckel-Gruber Syndrome Gruber Syndrome Dysencephalia Splanchnocystica Information on the following diseases can be found in the Related Disorders section of this report: Smith-Lemli-Opitz Syndrome (SLO Syndrome; RSH Syndrome) Joubert Syndrome Potter's Syndrome Ullrich-Feichtiger 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. Meckel Syndrome is a rare inherited disorder. Major symptoms may include, congenital deformities of the brain resulting in mental retardation. Malformations of the hands and feet, and bone deformities of the arms and legs may also occur. In males genitals may fail to develop properly. Kidney, pancreas and liver may also be abnormal. Symptoms The symptoms which identify Meckel Syndrome consist of brain abnormalities and failure of the brain to fully develop. Additionally, cystic growths in the kidneys and fibrous growths in the ducts of the liver and pancreas may occur. More than five fingers on the hands may be present as well as more than five toes on the feet and shortening or bowing of the long bones of the arms and legs. In males the testicles may contain abnormal cysts and they may fail to descend or grow properly. Causes Meckel Syndrome is 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). Meckel Syndrome can be identified in pregnant women during the fifth month of pregnancy either through ultrasound testing or by checking cells taken from the fluid surrounding the fetus (amniocentesis). Affected Population Meckel Syndrome affects males and females in equal numbers. The incidence of this syndrome worldwide varies from 1 in 140,000 to 1 in 9,000 births. Higher than usual concentrations of people with Meckel Syndrome occurs in India and Finland. Related Disorders Symptoms of the following disorders can be similar to those of Meckel Syndrome. Comparisons may be useful for a differential diagnosis: Smith-Lemli-Opitz Syndrome (SLO Syndrome; RSH Syndrome), is a rare hereditary neurological disorder characterized by a smaller than normal size head, mental retardation, low pressure in the fluid of the eyes, incomplete development of the male genitalia, short nose with displaced nostrils and a smaller than normal size opening of the stomach (pyloric stenosis). (For more information on this disorder, choose "Smith-Lemli-Opitz" as your search term in the Rare Disease Database). Joubert Syndrome is a very rare hereditary neurological disorder marked by malformations of the area of the brain which controls balance and coordination, neuromuscular and eye movement disturbances. Additionally, psychomotor retardation, and/or respiratory abnormalities may develop. Some of the symptoms may decrease with age. (For more information on this disorder, choose "Joubert Syndrome" as your search term in the Rare Disease Database). Potter's Syndrome is a rare hereditary disorder marked by congenital cysts of the Kidneys and liver. The patients also suffer from cerebral hemorrhage, aortic aneurysm and high blood pressure. Ullrich-Feichtiger Syndrome exhibits the same symptoms as Meckel Syndrome with the addition of some facial deformities including small jaws and cleft palate. It also is marked by extra fingers. Therapies: Standard Treatment of Meckel Syndrome is symptomatic and supportive. Genetic counseling is recommended for families affected by this disorder. 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 Meckel 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) 496-5133 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, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp.606-607, 1096, 1250. ARE BOWING OF LONG TUBULAR BONES AND PREAXIAL POLYDACTYOL SIGNS OF THE MECKEL SYNDROME? F. Majewski, et al.; Hum Genet (1983, issue 65 (2)). Pp. 125-133. THE MECKEL SYNDROME: CLINICOPATHOLOGICAL FINDINGS IN 67 PATIENTS; R. Salonen, et al.; Am J Med Genet (August, 1984, issue 18 (4)). Pp. 671-689. A NEW SYNDROME WITH FEATURES OF THE SMITH-LEMLI-OPITZ AND MECKEL GRUBER SYNDROMES IN A SIBSHIP WITH CEREBELLAR DEFECTS: A.C. Casamassima, et al.; Am J Med Genet (February, 1987, issue 26 (2)). Pp. 321-336. STUDIES ON THE ELEVATED AMNIOTIC FLUID SP 1 IN MECKELS'S SYNDROME; MODIFIED GLYCOSYLATION OF SP1; M. Heikinheimo, et al.; Placenta (July-August, 1987, issue 8 (4)). Pp. 427-432.