$Unique_ID{BRK03535} $Pretitle{} $Title{Bowen Hutterite Syndrome} $Subject{Bowen Hutterite Syndrome Bowen-Conradi Syndrome Bowen-Conradi Hutterite Syndrome Hutterite Syndrome Bowen-Conradi Type Cerebro-Oculo-Facio-Skeletal Syndrome Chromosome 18 Trisomy 18} $Volume{} $Log{} Copyright (C) 1993 National Organization for Rare Disorders, Inc. 947: Bowen Hutterite Syndrome ** IMPORTANT ** It is possible that the main title of the article (Bowen Hutterite Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Bowen-Conradi Syndrome Bowen-Conradi Hutterite Syndrome Hutterite Syndrome, Bowen-Conradi Type Information on the following diseases can be found in the Related Disorders section of this report: Cerebro-Oculo-Facio-Skeletal Syndrome Chromosome 18, Trisomy 18 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. Bowen Hutterite Syndrome is a very rare disorder inherited as an autosomal recessive genetic trait. Major symptoms may include: low birth weight, a small head (microcephaly), a prominent nose, an underdeveloped jaw (micrognathia), "rocker-bottom feet," and failure to thrive. Symptoms Bowen Hutterite Syndrome is a very rare disorder characterized by low birth weight, unusual facial features, "rocker-bottom" feet, joint limitations (especially of the hip), and failure to thrive. Typically the affected infant has a small head (microcephaly) with an underdeveloped jaw and a prominent nose. Sucking may be poor from birth and recurrent pneumonia may be a complication. Other symptoms found in affected infants have been: undescended testes, inguinal hernia, bent fingers (camptodactyly), clouding of the cornea of the eye, malformations of the central nervous system, kidney abnormalities and underdeveloped nails of the fingers and toes. Causes Bowen Hutterite Syndrome is inherited as an autosomal recessive genetic trait. All reported cases of this disorder have been the result of offspring by the mating of closely related individuals (inbreeding). 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 not show 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 Bowen Hutterite Syndrome affects males and females in equal numbers. There have been approximately twenty cases of this disorder reported in the medical literature. Most cases have affected infants from a religious sect of people who practice community of goods (Hutterites). Related Disorders Symptoms of the following disorders can be similar to those of Bowen Hutterite Syndrome. Comparisons may be useful for a differential diagnosis: Cerebro-Oculo-Facio-Skeletal Syndrome is a rare disorder inherited as an autosomal recessive genetic trait. Symptoms of this disorder include a small head, clouding of the eyes lens (cataract), a narrow opening between the eyelids (blepharophimosis), an underdeveloped jaw (micrognathia), "rocker bottom" feet, bending of one or more fingers (camptodactyly), slowed growth and failure to thrive. (For more information on this disorder, choose "Cerebro-Oculo-Facio-Skeletal Syndrome" as your search term in the Rare Disease Database.) Chromosome 18, Trisomy 18 is a rare disorder caused by the presence of extra chromosome 18. Symptoms of this disorder may include: slowed growth, failure to thrive, failure of the testes to descend into the scrotum (cryptorchidism), poor sucking ability, "rocker-bottom" feet, an unusual face with a small head, and clenched fists with overlapping fingers. Abnormalities of the kidneys and heart may also occur. Therapies: Standard Treatment of Bowen Hutterite Syndrome is symptomatic and supportive. Feeding through a surgical opening into the stomach (gastrostomy) may be needed in some cases. Genetic counseling will be of benefit for patients and their families. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through April 1993. 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 Bowen Hutterite 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 (NICHD) 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, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1256-57. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 883-4. THE BOWEN-CONRADI SYNDROME -- A AUTOSOMAL RECESSIVE SYNDROME OF MICROCEPHALY, MICROGNATHIA, LOW BIRTH WEIGHT, AND JOINT DEFORMITIES: A.G. Hunter et al.; Am J Med Genet (1979, issue 3(3)). Pp. 201-204.