$Unique_ID{BRK03753} $Pretitle{} $Title{Fraser Syndrome} $Subject{Fraser Syndrome Cryptophthalmos-Syndactyly Syndrome Renal Agenesis Bilateral Cat-Eye Syndrome Melnick-Fraser Syndrome} $Volume{} $Log{} Copyright (C) 1989 National Organization for Rare Disorders, Inc. 739: Fraser Syndrome ** IMPORTANT ** It is possible that the main title of the article (Fraser Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Cryptophthalmos-Syndactyly Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Renal Agenesis, Bilateral Cat-Eye Syndrome Melnick-Fraser 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. Fraser Syndrome is a rare genetic disorder characterized by multiple physical abnormalities, malformed or missing kidneys, and incomplete development of the sexual organs. Symptoms Fraser Syndrome is characterized by multiple physical abnormalities. These may include eye defects with complete fusion of the eyelids (cryptophthalmos), malformed or missing kidneys (renal agenesis), partial fusion of the fingers and toes (syndactyly) and middle and outer ear deformities. The nose is usually broad with a flattened bridge and deep indentations on the side of each nostril. Other characteristics may include hair growth that extends from the forehead to the eyebrows, high or cleft palate, malformation of the eyelid ducts that convey tears, a displaced navel, malformed or missing larynx, widely spaced nipples, malformation of the pubic bones and mental deficiency. Incomplete development of the genitals may be symptomatic of this syndrome. In males there may be an abnormal opening of the urethra on the underside of the penis, or failure of the testicles to descend into the scrotum (cryptorchidism). In females there may be a single or double uterus with horn-like extensions (bicornuate uterus), an enlarged clitoris (clitoromegaly), malformed fallopian tubes or a fusion of the vaginal opening (labia). Causes Fraser Syndrome is an autosomal recessive genetic disorder. 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. 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, the person 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 twenty-five 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. Affected Population Fraser Syndrome affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Fraser Syndrome. Comparisons may be useful for a differential diagnosis: Bilateral Renal Agenesis is the absence of both kidneys at birth. It is a genetic disorder characterized by a failure of the kidneys to develop in a fetus. This absence of kidneys causes a deficiency of amniotic fluid in a pregnant woman. Normally the amniotic fluid acts as a cushion for the developing fetus. When there is an insufficient amount of this fluid, compression of the fetus may occur resulting in further malformations of the baby. (For more information on this disorder, choose "Bilateral Agenesis" as your search term in the Rare Disease Database.) Cat-Eye Syndrome (Coloboma of Iris-Anal Atresis Syndrome), is a disorder which is characterized by a fissure in the iris of the eye and the absence of an anal opening. Other abnormalities may include missing kidneys (renal agenesis). Melnick-Fraser Syndrome (Branchio-Oto-Renal Syndrome) is a genetic disorder characterized by hearing loss and kidney malformations, including renal agenesis. Therapies: Standard Treatment of Fraser Syndrome may include surgery to correct some of the malformations associated with this disorder. Other treatment is symptomatic and supportive. Genetic counseling may be of benefit for families of children with this disorder. Therapies: Investigational This disease entry is based upon medical information available through January 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 Fraser Syndrome, 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 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 National Kidney Foundation 2 Park Avenue New York, NY 10016 (212) 889-2210 (800) 622-9010 American Kidney Fund 6110 Executive Blvd., Suite 1010 Rockville, MD 20852 (301) 881-3052 (800) 638-8299 (800) 492-8361 (In MD) Forward Face 560 First Ave. New York, NY 10016 (212) 263-5205 (800) 422-FACE National Craniofacial Foundation 3100 Carlisle Street, Suite 215 Dallas, TX 75204 (800) 535-3643 National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1634 National Foundation for Facial Reconstruction 550 First Street New York, NY 11016 (212) 340-6656 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, 8th ed.: Victor a McKusick; Johns Hopkins University Press, 1986. Pp. 882. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed., Kenneth L. Jones, M.D.; W.B. Saunders Co. 1988. Pp. 204. THE CLINICAL SPECTRUM OF THE FRASER SYNDROME: REPORT OF THREE NEW CASES AND REVIEW. J. Gattuso, et al.; J MED GENET (September 1987, issue 24 (9)). Pp. 549-555. FRASER SYNDROME (CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME): A REVIEW OF ELEVEN CASES WITH POSTMORTEM FINDINGS. P. Boyd et al.; AM J MED GENET (September 1988, issue 31 (1)). Pp. 159-168. ENT ABNORMALITIES ASSOCIATED WITH FRASER SYNDROME: CASE REPORT AND LITERATURE REVIEW. M. Mina et al.; J OTOLARYNGOL (August 1988, issue 17 (5)). Pp 233-236.