$Unique_ID{BRK04256} $Pretitle{} $Title{Telecanthus} $Subject{Telecanthus BBB Syndrome Hypertelorism-Hypospadias Syndrome Dystopia Canthorum G Syndrome Waardenburg Syndrome } $Volume{} $Log{} Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 582: Telecanthus ** IMPORTANT ** It is possible that the main title of the article (Telecanthus With Associated Abnormalities) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms BBB Syndrome Hypertelorism-Hypospadias Syndrome Dystopia Canthorum Information on the following diseases can be found in the Related Disorders section of this report: G Syndrome Waardenburg 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. Telecanthus With Associated Abnormalities is a very rare genetic disorder affecting the eyes and other parts of the body. Major symptoms include very widely spaced eyes (hypertelorism), urinary tract anomalies, and abnormalities in the development of the mouth and the lips. Symptoms Telecanthus With Associated Abnormalities is apparent at birth. The most obvious features are very widely spaced eyes that may be crossed or misaligned (strabismus) combined with a high broad nasal bridge. This may be accompanied by urinary tract deformities such as the opening of the urethra set very low on the underside of the male penis (hypospadias) or opening into the vagina of females. Often the testicles of the affected males are undescended (cryptorchidism). There may be clefting of the palate, lips and back of the mouth (uvula) and often patients show one or more congenital heart defects. There is a high rate of mental retardation among affected males. Causes The exact cause of Telecanthus With Associated Abnormalities is not known. It is thought to be inherited as an X-linked trait. (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. X- linked recessive disorders are conditions which are coded 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 masked by the normal gene on the other X chromosome. 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 Telecanthus With Associated Abnormalities affects males more often and more seriously than females. Related Disorders Symptoms of the following disorders can be similar to those of Telecanthus With Associated Abnormalities. Comparisons may be useful for a differential diagnosis: G Syndrome is marked at birth by widely spaced eyes (hypertelorism), a broad, flat nasal bridge, neuromuscular defects of the esophagus and swallowing mechanism, and a hoarse cry. The opening of the urethra may be too low on the underside of the penis (hypospadias). Undescended testicles (cryptorchidism), a scrotum that is divided into two parts (bifid) and an anus without an opening (imperforate) may be present. Waardenburg Syndrome is characterized by displacement of the inner folds of the eyelids, prominence of the nose, and overdevelopment of the eyebrows. The patient may have two different colored eyes or two colors in one iris of the eye. Congenital nerve deafness may also occur. A white streak of hair in the front (forelock) of the head or early greying of the hair may characterize this disorder. A thin nose with flaring nostrils, a "cupid bow" configuration of the lips, wide-set eyes, inflammation of the tear sac and drooping of the upper eyelids may occur. A lack of an indent between the nose and the forehead, prominent lower jaw and a clefted or high-arched palate may also be present. (For more information on this disorder, choose "Waardenburg" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Telecanthus With Associated Abnormalities may include reconstructive surgery to correct the spacing between the eyes as well as straightening the eyes themselves. Surgical correction of the urinary deformities as well as the cleft palate, lips and uvula may also be recommended. If heart deformities are present, surgery may be necessary. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through November 1988. 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 Telecanthus with Associated Abnormalities, 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 & Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 Forward Face 560 First Ave. New York, NY 10016 (212) 263-5205 (800) 422-FACE National Craniofacial Foundation 3100 Carlisle Suite 215 Dallas, TX 75204 1-800-535-3843 FACES National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 Society for the Rehabilitation of the Facially Disfigured, Inc. 550 First Avenue New York, NY 10016 (212) 340-5400 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, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1458. PHENOTYPIC OVERLAP OF THE BBB AND G SYNDROMES. J. F. Cordero, et al., Am J Med Genet (1978, issue 2 (2)). Pp. 145-152. STUDIES OF MALFORMATION SYNDROMES OF MAN VB; THE HYPERTELORISM-HYP (BBB) SYNDROME. CASE REPORT AND REVIEW. C. H. Gonzalez, et al., Eur J Pediatr (April, 1977, issue 125 (1)). Pp. 1-13. THE G AND BBB SYNDROMES; CASE PRESENTATIONS, GENETICS, AND NOSOLOGY. S. J. Funderburk, et al., Am J Med Genet (1978, issue 2 (2)). Pp. 131-144.