$Unique_ID{BRK03907} $Pretitle{} $Title{Klippel-Trenaunay Syndrome} $Subject{Klippel-Trenaunay Syndrome Klippel-Trenaunay-Weber Syndrome KTW Syndrome Angio-Osteohypertrophy Syndrome Congenital Dysplastic Angiectasia Elephantiasis Congenita Angiomatosa Hemangiectatic Hypertrophy Osteohypertrophic Nevus Flammeus Parkes-Weber Syndrome Sturge-Weber Syndrome} $Volume{} $Log{} Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc. 453: Klippel-Trenaunay Syndrome ** IMPORTANT ** It is possible the main title of the article (Klippel-Trenaunay Syndrome) 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 Klippel-Trenaunay-Weber Syndrome KTW Syndrome Angio-Osteohypertrophy Syndrome Congenital Dysplastic Angiectasia Elephantiasis Congenita Angiomatosa Hemangiectatic Hypertrophy Osteohypertrophic Nevus Flammeus DISORDER SUBDIVISIONS Parkes-Weber Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Sturge-Weber 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. Klippel-Trenaunay Syndrome is a blood vessel disorder combining Nevus Flammeus (a birth mark which is the color of a port wine stain), excessive growth of the soft tissue and bone, and varicose veins. Cases range from mild to severe with a variety of complications possible. Onset usually occurs before birth or during early childhood. Symptoms Seventy-five percent of Klippel-Trenaunay Syndrome cases involve wine colored birthmarks called "nevus flammeus" or "port wine stains". These birthmarks are apparent at birth and tend to deepen in color with age. Masses of veins, lymph vessels and capillaries (with or without thickened walls) may be diagnosed before birth with the use of ultrasound tests. In eighty-five percent of affected patients, the limbs on one side of the body are affected with these vascular lesions. Usually one leg is affected, although an arm, leg, or both may be involved. Dilated varicose veins tend to develop as substitute channels for obstructed underlying veins during the first years of life. The underlying veins may be absent or underdeveloped and are often constricted by fibrous bands. Gradual bone and soft tissue overdevelopment may occur underneath the abnormal vessel masses. An arm or leg (or both), is often lengthened to some degree and may be enlarged in circumference as well. Varicose veins are present in all patients, although they may be hidden by swelling. In a few cases, swelling may occur as a result of compression or malformations of lymph vessels. Occasionally wasting (atrophy) may occur in the affected limb. Parkes-Weber Syndrome is a subdivision of Klippel-Trenaunay Syndrome characterized by direct blood flow from veins to arteries, bypassing the capillary networks (arteriovenous shunts). A variety of complications can result from Klippel-Trenaunay Syndrome. The overdevelopment of a leg can cause compensatory curvature of the spine (Scoliosis) to occur. Varicose veins can lead to skin ulcerations, swelling and changes associated with constricted blood flow. Other possible dermatological changes may include eczema, atrophy, flesh colored warts, connective tissue inflammation (cellulitis), and profuse sweating in overlying skin areas. Veins may become inflamed and possibly blocked by a blood clot (Thrombophlebitis), but the clot is usually stationary and carries little danger of traveling to the lungs. Unexpected bleeding may develop in the abnormal blood vessels and/or capillaries due to diminished amounts of clotting factors in circulating blood. When certain abdominal veins become dilated, abnormal vein drainage may lead to bleeding in the rectum, vagina, area around the vagina (vulva), or bladder. Abnormal growths in the bladder and colon may lead to bleeding as well, and may compress the spinal cord possibly causing partial paralysis. Other symptoms which may be associated with Klippel-Trenaunay Syndrome include the presence of extra fingers with or without webbing, dilated veins in the lungs, partial overgrowth of the face without the associated port wine stain birthmark, an open spine (spina bifida), absence of the opening in the ear canal, absence of fingers or toes, an abnormally small number of clotting platelets in circulating blood (thrombocytopenia), an abnormally low concentration of a clotting factor in circulating blood plasma (hypofibrinogenemia), congenital dislocation of the hips, exceptionally large feet, and bilateral undescended testes in males. A few cases of this disorder have occurred in conjunction with Sturge-Weber Syndrome. (For more information on Sturge-Weber Syndrome, see the Related Disorders section of this report.) Causes The exact cause of Klippel-Trenaunay Syndrome is not known, although it is presumed to be genetic. Symptoms may develop due to a defect in fetal development or a hereditary embryonic tissue weakness. Affected Population Klippel-Trenaunay Syndrome is a rare disorder affecting males and females in equal numbers. The disorder occurs worldwide. Related Disorders Symptoms of the following disorders can be similar to those of Klippel- Trenaunay Syndrome. Comparisons may be useful for a differential diagnosis: Sturge-Weber Syndrome is usually a dominant hereditary disorder in which a port wine colored stain (angioma) on the face, and intracranial abnormalities are present at birth. Generalized seizures and additional neurological symptoms usually occur between one and two years of age. Vascular lesions (telangiectasias and angiomas) in the brain usually involve the occipital or parieto-occipital regions. Glaucoma may be present in the eye located on the same side of the face where the port wine stain occurs. This eye may also be enlarged. The iris may remain blue, even though the other eye may change to another color as the infant matures. Sight in half of the visual field may be defective or absent in the affected eye. (For more information on this disorder, choose "Sturge-Weber" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Klippel-Trenaunay Syndrome is usually directed toward controlling symptoms. The port wine colored stain birthmark may be lightened or removed with argon, yellow light, or carbon dioxide laser surgery. Application of makeup may be helpful as a temporary measure for cosmetic reasons. When blood vessel abnormalities occur in the colon, surgical resection of the intestines may be required. Lesions in the bladder may be removed by means of a high frequency electrical current aided by imaging with a flexible lighted tube (cystoscope). Children with port wine stain birthmarks, minimal varicose veins and an oversized limb with a discrepancy of less than one centimeter usually require no surgical intervention. For patients with marked presence of varicose veins, wearing elastic support stockings may be helpful. Discrepancies in leg length may be corrected by placing a lift in the shoe on the healthy foot to prevent compensatory curvature of the spine (scoliosis). Diuretics, antibiotics, or iron supplements may be required for patients with complications involving blood cell or connective tissue inflammation (cellulitis), blood clots in veins (thrombophlebitis), recurrent bleeding or anemia. Ulcerations or eczema may require local treatment prescribed by a dermatologist. Surgical removal or stripping of varicose or underlying veins may not be recommended because of possible complications or recurrences. Orthopedic procedures to correct extreme overgrowth of an affected limb may include surgery. If a discrepancy in leg length is found, X-rays should be taken and compared every six months to determine timing of surgery to correct the bone overgrowth. Therapies: Investigational The Flashlamp-Pulsed Tunable Dye laser is showing very good results in the treatment of port wine stain in the skin of children under age eighteen. This treatment has shown little or no side effects. This disease entry is based upon medical information available through March 1990. 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 Klippel-Trenaunay Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Klippel-Trenaunay Syndrome Support Group 4610 Wooddale Ave. Edina, MN 55424 (612) 925-2596 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 The Sturge-Weber Foundation P.O. Box 460931 Aurora, CO 80046 (303) 360-7290 (800) 627-5482 Sturge-Weber Support Group 2036 Ridgewood Way Bountiful, Utah 84010 (801) 292-8228 (801) 292-6639 Nevus Network 1400 S. Joyce St., #C1201 Arlington, VA 22202 (703) 920-2349 (405) 377-3403 Giant Congenital Pigmented Nevus Support Group 12 Twixt Hill Rd. Ridgefield, CT 06877 (203) 438-3863 Nevus Support Group 58 Necton Rd. Wheathampstead, Herts AL4 8AU England For Information on genetics 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 CT FINDINGS IN SPLENIC HEMANGIOMAS IN THE KLIPPEL-TRENAUNAY-WEBER SYNDROME: R.L. Pakter, et al.; J Comput Assist Tomogr (Jan.-Feb. 1987, issue 11(1)). Pp. 88-91. A RETROMEDULLARY ARTERIOVENOUS FISTULA ASSOCIATED WITH THE KLIPPEL SYNDROME: A CLINICOPATHOLOGIC STUDY: N. Benhaiem-Sigaux, et al.; Acta Neuropathol (Berl) (1985, issue 66(4)). Pp. 318-324. CORRECTION OF LEG INEQUALITY IN THE KLIPPEL-TRENAUNAY-WEBER SYNDROME: M. Peixinho, et al.; Int Orthop (1982, issue 6(1)). Pp. 45-47. SURGICAL IMPLICATIONS OF KLIPPEL-TRENAUNAY SYNDROME: Peter P. Gloriezk, et al.; Ann Surg (March 1983, issue 197). Pp. 353.