$Unique_ID{BRK04096} $Pretitle{} $Title{Pentalogy of Cantrell} $Subject{Pentalogy of Cantrell Cantrell Syndrome Cantrell-Haller-Ravich Syndrome Cantrell Pentalogy Pentalogy Syndrome Peritoneopericardial Diaphragmatic Hernia Thoracoabdominal Ectopia Cordis Thoracoabdominal Syndrome TAS Midline Defect TAS Midline Defects Included Omphalocele} $Volume{} $Log{} Copyright (C) 1993 National Organization for Rare Disorders, Inc. 939: Pentalogy of Cantrell ** IMPORTANT ** It is possible that the main title of the article (Pentalogy of Cantrell) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Cantrell Syndrome Cantrell-Haller-Ravich Syndrome Cantrell Pentalogy Pentalogy Syndrome Peritoneopericardial Diaphragmatic Hernia Thoracoabdominal Ectopia Cordis Thoracoabdominal Syndrome TAS Midline Defect TAS, Midline Defects, Included Information on the following diseases can be found in the Related Disorders section of this report: Omphalocele 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. Pentalogy of Cantrell is a very rare disorder characterized by a combination of severe defects of the middle of the chest, sternum, diaphragm, heart, and abdominal wall. This defect can affect males or females and is apparent at birth or shortly after. Symptoms Pentalogy of Cantrell is characterized by chest wall defects that may include a clefting of the chest area. The protrusion of the intestines through the child's navel into a sac (omphalocele) is also present. Muscles of the diaphragm are often missing allowing the heart to be apparent under the skin. An opening between the area of the body that contains the bowels, liver, and heart may exist. Often the above defects affect the infant's ability to breathe, for the heart to function, and may even cause widespread internal infection of the patient's abdominal cavity. Symptoms may occur due to an abnormality in the development of midline embryonic tissue fourteen to eighteen days after conception. The infant usually has normal intelligence. Causes Pentalogy of Cantrell can be a sporadic condition or be transmitted by an X- linked gene. 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. X-linked disorders are conditions which result from a defective gene on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be corrected by the normal gene on the other X chromosome causing the female to be asymptomatic or making symptoms less serious than in males. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. Affected Population Pentalogy of Cantrell is a very rare disorder it effects 5.5 infants per one million live births. Males are effected more frequently than females. Females tend to have less severe symptoms than males. Approximately fifty cases have been identified in the medical literature. Related Disorders Symptoms of the following disorders can be similar to those of Pentalogy of Cantrell. Comparisons may be useful for a differential diagnosis: Omphalocele is the protrusion of the internal abdominal tissue through the navel into a clear sac outside of the body. If the size is less than 4 cm it is considered a hernia of the navel. If more than 4 cm it is an omphalocele. Therapies: Standard Pentalogy of Cantrell usually requires a series of surgeries over a period of years. Abdominal and heart defects both require very involved surgical procedures. The abdominal defect is usually closed first. Heart defects are repaired when the child is older. The disorder is usually apparent at birth or shortly after. Ultrasound testing can determine if the condition is present even before birth. Genetic counseling will be of benefit for patients and their families. Other treatment is symptomatic and supportive. 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 birth defects in the future. This disease entry is based upon medical information available through May 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 Pentalogy of Cantrell, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812 (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 Ave. 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, 1992. P. 1971. NELSON TEXTBOOK OF PEDIATRICS, 14th ed., Ed.: Richard E. Behrman, W.B. Saunders Company, 1992. Pp. 1032-1033. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1375-1376. GASTROINTESTINAL DISEASE, PATHOPHYSIOLOGY, DIAGNOSIS, AND MANAGEMENT, 4th ed., Ed.: Marvin H. Sleisenger, M.D., W.B. Saunders, Co., 1989. Pp. 1015- 1017. PRENATAL DIAGNOSIS OF PENTALOGY OF CANTRELL., A. Ghidini, et al.; J Ultrasound Med, October, 1988, (issue 7 (10)). Pp. 567-572. PENTALOGY OF CANTRELL AND ECTOPIA CORDIS, A FAMILIAL DEVELOPMENTAL FIELD COMPLEX., R.A. Martin, Am J Med Genet, April, 1992, (issue 42 (6)). Pp. 839, 841.