$Unique_ID{BRK04306} $Pretitle{} $Title{VACTERL Association} $Subject{VACTERL Association VACTERL Vertebral anomalies Anal atresia congenital Cardiac disease Tracheo Esophageal fistula Renal radial dysplasia Limb defects VATER Association defects Tracheoesophageal Townes-Brocks Syndrome Holt-Oram REAR} $Volume{} $Log{} Copyright (C) 1987, 1989, 1992 National Organization for Rare Disorders, Inc. 486: VACTERL Association ** IMPORTANT ** It is possible the main title of the article (VACTERL Association) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms VACTERL Syndrome VACTERL Association VACTERL is the acronym for: (V)ertebral anomalies, (A)nal atresia, congenital (C)ardiac disease, (T)racheo(E)sophageal fistula, (R)enal anomalies, radial dysplasia, and other (L)imb defects DISORDER SUBDIVISIONS VATER Association : (V)ertebral defects, (A)nal atresia, (T)racheoesophageal fistula with (E)sophageal atresia, and (R)adial dysplasia. Information on the following diseases can be found in the Related Disorders section of this report: REAR Syndrome Townes-Brocks Syndrome Holt-Oram 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. VACTERL Association is an acronym for (V)ertebral anomalies, (A)nal atresia, congenital (C)ardiac disease, (T)racheo(E)sophageal fistula, (R)enal anomalies, radial dysplasia, and other (L)imb defects. Abnormalities are present at birth. Symptoms occur in various combinations and can be manifestations of several recognized disorders. Related disorders such as the VATER Association and the REAR Syndrome, which are composed of some of the same symptoms, have been expanded into the VACTERL Association. Nearly all cases have occurred sporadically, although some familial cases have been identified. Occasionally, other abnormalities may accompany this association of symptoms. Symptoms Vertebral anomalies of the VACTERL Association can include divided spinal disks, incomplete or half-developed spinal disks, and developmental abnormalities of the tailbone (sacrum) which is the lowest section of the vertebral column comprising part of the pelvis. The absence of a normal opening (atresia) in the anus can also occur. Abnormal passages from hollow organs to the body surface or to another organ (fistulas) can develop between the lower section of the rectum and the urethra (in males), or the vagina (in females). Fistulas may occasionally be found in conjunction with congenital absence of the anus, usually in the upper section of the rectum. The most common heart (cardiac) abnormality is Ventricular Septal Defect, which is a congenital defect in the wall (septum) between the two ventricles of the heart, usually resulting from failure of the spiral septum to close the interventricular aperture (foramen) normally. (For more information on this disorder, please choose "Ventricular Septal Defect" as your search term in the Rare Disease Database.) Abnormal passages or openings (fistulas) can also occur between the windpipe (trachea) and/or upper digestive tract (tracheo-esophageal fistula). Occasionally, the esophagus may be absent at birth. The most common kidney abnormality is the inborn absence (agenesis) of the kidneys. In other cases, the kidney tissue may be over-developed. Radial limb dysplasia includes any defect involving the radial side of the arm such as underdevelopment of the thumb, the presence of three bones (triphalangeal) in the thumb instead of the normal two, the presence of extra fingers on one hand (polydactyly), and/or absence of some of the fingers. Some persons with VACTERL Association may not grow at a normal rate, but mental development is usually normal. Causes VACTERL Association is a combination of developmental abnormalities which are thought to occur sporadically. However, some scientists believe some cases to be genetic. Abnormalities are presumed to be defects in the middle (mesodermal) of three primary layers of the embryo during fetal development due to a variety of causes. Affected Population VACTERL Association is a very rare combination of developmental abnormalities which affects males in slightly greater numbers than females. Related Disorders Symptoms of the following disorders can be similar to those of VACTERL Association. Comparisons may be useful for a differential diagnosis: REAR Syndrome is an acronym for (R)enal anomalies, deformed external (E)ars and perceptive deafness, (A)nal stenosis, and (R)adial dysplasia. Underdeveloped kidneys are the most common renal abnormalities. The external ears are abnormally developed and deafness is present at birth. The anus is constricted or smaller than normal and other anal abnormalities can also occur. Abnormal tissue development is present in the area of the bone in the forearm (radius) or upper arm. Townes-Brocks Syndrome is characterized by the congenital lack of an anal opening in association with hand, foot and ear abnormalities. An extra joint in the thumb (triphalangeal thumb) and/or an extra thumb can be present. In the feet, fusion of the long bones (metatarsals) may occur, or some bones may be absent. External ears can be abnormally large or "lopping" and mild sensorineural deafness can occur. Holt-Oram Syndrome, also known as Atriodigital Dysplasia or Heart-Hand Syndrome, is a genetic disorder comprised of atrial septal defect in association with hand and forearm deformities. Therapies: Standard Treatment of VACTERL Association by successive surgical rehabilitation of malformations is often useful. Other treatment is symptomatic and supportive. Therapies: Investigational The Titanium Rib Project is underway to implant expandable ribs in patients with disorders involving missing, underdeveloped or otherwise malformed rib cages, ribs or chest walls. Absent areas due to surgery or birth defects, fused ribs or hypoplastic chests may be improved using the titanium ribs which can be expanded as the child grows. Interested persons may contact: Dr. Robert Campbell Santa Rosa Children's Hospital 519 W. Houston St. San Antonio, TX 78207-3198 (512) 567-5125 This disease entry is based upon medical information available through September 1992. 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 VACTERL Association, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Center for Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For genetic information and genetic counseling referrals, 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 MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 67, 752. A POPULATION STUDY OF THE VACTERL ASSOCIATION: EVIDENCE FOR ITS ETIOLOGIC HETEROGENEITY: M.J. Khoury, et al.; Pediatrics (May 1983, issue 71(5)). Pp. 815-820. TRACHEAL AGENESIS AND ASSOCIATED MALFORMATIONS: A COMPARISON WITH TRACHEOESOPHAGEAL FISTULA AND THE VACTERL ASSOCIATION: J.A. Evans, et al.; Am J Med Genet (May 1985, issue 21(1)). Pp. 21-38. TOWNES SYNDROME. A DISTINCT MULTIPLE MALFORMATION SYNDROME RESEMBLING VACTERL ASSOCIATION: J.H. Hersh, et al.; Clin Pediatr (Phila) (February 1986, issue 25(2)). Pp. 100-102.