$Unique_ID{BRK03643} $Pretitle{} $Title{Cystic Hygroma} $Subject{Cystic Hygroma Cystic Lymphangioma Fetal Cystic Hygroma FCH Familial Nuchal Bleb Hygroma Colli Cavernous Lymphangioma Turner Syndrome} $Volume{} $Log{} Copyright (C) 1989 National Organization for Rare Disorders, Inc. 631: Cystic Hygroma ** IMPORTANT ** It is possible that the main title of this article (Cystic Hygroma) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article. Synonyms Cystic Lymphangioma Fetal Cystic Hygroma FCH Familial Nuchal Bleb Hygroma Colli Information on the following disorders can be found in the Related Disorders section of this report: Cavernous Lymphangioma The following disorder can be associated with Cystic Hygroma: Turner 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 physician and/or the agencies listed in the "Resources" section of this report. Cystic Hygroma is an inborn tumor in the lymph system that may be inherited through autosomal recessive genes. This progressive disorder is characterized by a large sac filled with lymph fluid protruding from the skull at the nape of the neck. The Hygroma is thought to be caused by a failure of the lymph system to properly connect with the blood vessels in the neck and thus with the blood circulation system. Symptoms Cystic Hygroma is characterized by a sac resembling a bag of water usually at the nape of the neck. This sac grows under the skin and is filled with lymph fluid and lymph cells. The sac is thin-walled and compressible, and it grows rapidly upward toward the ear, or down toward the underarm area. More rarely, it may originate in the area under the arm, in the groin, the rear of the abdominal cavity, in the chest wall, the hip or tailbone region. Surgical or drug treatment usually keeps the tumor from growing very large. It may, however, become progressive, causing excessive fluids to accumulate throughout the body tissues (hydrops). Causes Cystic Hygroma is thought to be inherited through autosomal recessive genes. (Human traits, including the classic genetic diseases, are the product of the interaction of two genes for that condition, 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 a person receives one normal gene and one gene for the disease, he or she 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 25 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.) Symptoms of Cystic Hygroma arise from failure of the lymph system to be properly connected with the blood circulation system. Affected Population Cystic Hygroma may be present at birth or it can begin during early childhood. This disorder affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Cystic Hygroma. Comparisons may be useful for a differential diagnosis: Cavernous Lymphangioma (Lymphangioma Cavernosum) is the most common tumor of the lymph vessels, occurring at birth or during early childhood. Tumors consist of groups of deep-seated, gray, yellowish pink sacs of 1 to 5 mm in diameter, filled with lymph fluid and lymph cells. The tumors usually appear in the skin of the arms, underarm and shoulder area, but they may also appear on the mouth, throat, tongue, eyelids and around the eyeball, in the groin or upper thigh. Cavernous Lymphangioma is a slow-growing tumor. The skin over the sacs may become overgrown. (For more information on this disorder, choose "Cavernous Lymphangioma" as your search term in the Rare Disease Database.) The following disorder may be associated with Cystic Hygroma: Turner Syndrome is a rare genetic disorder affecting females which is characterized by lack of sexual development and an XO chromosome pattern in tissue cells. Small stature, possible mental retardation, heart defects and various other inborn abnormalities, sometimes including a cystic hygroma in the neck, also occur. (For more information, choose "Turner" as your search term in the Rare Disease Database.) Therapies: Standard Cystic Hygroma can be detected during pregnancy through ultrasonography and testing for a greatly elevated level of alpha-1-fetoprotein in the water sac surrounding the unborn fetus. Treatment of Cystic Hygroma may include surgery and/or the drug bleomycin in a microsphere-in-oil emulsion. However, the hygroma may recur after treatment. Genetic counseling can be helpful for families of patients with Cystic Hygroma. Therapies: Investigational This disease entry is based upon medical information available through December 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 Cystic Hygroma, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Lymphatic & Venous Diseases Association Cambridge Medical Supply 218 Monsignor O'Brien Highway Cambridge, MA 02141 Cystic Hygroma & Lymphangioma Support Group Villa Fontane, Church Road Worth, Crawley, Sussex RH10 4RT ENGLAND American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give the public, cancer patients and families, and health professionals quick and easy access to many types of information vital to patients with this and many other types of cancer. To gain access to this service, call: Cancer Information Service (CIS) 1-800-4-CANCER In Washington, DC and suburbs in Maryland and Virginia, 636-5700 In Alaska, 1-800-638-6070 In Oahu, Hawaii, (808) 524-1234 (Neighbor islands call collect) For genetic information and genetic counseling referrals, please 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 FETAL CYSTIC HYGROMA COLLI: ANTENATAL DIAGNOSIS, SIGNIFICANCE, AND MANAGEMENT: A.S. Garden, et al.; American Journal Obstet Gynecol (February 1986: issue 154(2)). Pp. 221-225. TREATMENT OF CYSTIC HYGROMA AND LYMPHANGIOMA WITH THE USE OF BLEOMYCIN FAT EMULSION: N. Tanigawa, et al.; Cancer (August 15, 1987: issue 60(4)). Pp. 741-749. FETAL CYSTIC HYGROMA AND TURNER'S SYNDROME: R.F. Carr, et al.; American Journal Diseases Children (June 1986: issue 140(6)). June 1986: issue 140(6)). An Journal Diseases Children ME: Pp. 580-583. MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 1170.