$Unique_ID{BRK03789} $Pretitle{} $Title{Greig Cephalopolysyndactyly Syndrome} $Subject{Greig Cephalopolysyndactyly Syndrome GCPS Greig Syndrome Greig Polysyndactyly Craniofacial Dysmorphism Syndrome Apert Syndrome} $Volume{} $Log{} Copyright (C) 1989 National Organization for Rare Disorders, Inc. 697: Greig Cephalopolysyndactyly Syndrome ** IMPORTANT ** It is possible that the main title of the article (Greig Cephalopolysyndactyly 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 GCPS Greig Syndrome Greig Polysyndactyly Craniofacial Dysmorphism Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Apert Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for e 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. Greig Cephalopolysyndactyly is a rare genetic disorder characterized by an enlarged head, unusual facial features and multiple physical deformities of the hands and feet. Symptoms Greig Cephalopolysyndactyly Syndrome is a genetic disorder characterized by an abnormally large head (macrocephaly), and an unusual facial appearance with a high prominent forehead, broad nose and widely spaced eyes (hypertelorism). Extra fingers and toes (polysyndactyly), enlarged thumbs and great toes, and fusing or webbing of the fingers and toes (syndactyly) also usually occur. Occasionally there can be a permanent flexing of the fingers and toes (campodactyly), an increase of fluid on the brain (hydrocephalus) and mild retardation. Causes Greig Cephalopolysyndactyly Syndrome is believed to be inherited as an autosomal dominant genetic trait. The location of the defective gene in Greig Cephalopolysyndactyly Syndrome has been established to be on the short arm of chromosome 7 (7p13). 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 dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Greig Cephalopolysyndactyly Syndrome is a very rare disorder that affects males and females in equal numbers. Related Disorders Symptoms of the following disorder can be similar to those of Greig Cephalopolysyndactyly. Comparisons may be useful for a differential diagnosis: Apert Syndrome is an autosomal dominant inherited disorder characterized by fused or webbed fingers and toes (syndactyly), a pointed head (acrocephaly or oxycephaly), other skeletal and facial abnormalities, and mental retardation. (For more information on this disorder, choose "Apert" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Greig Cephalopolysyndactyly Syndrome may include surgery for the webbing of the fingers and toes. 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 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 Greig Cephalopolysyndactyly Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 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 1-800-535-3643 Society for the Rehabilitation of the Facially Disfigured, Inc. 550 First Avenue Ney York, NY 10016 (212) 340-5400 FACES National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 Let's Face It Box 711 Concord, MA 01742 (508) 371-3186 National Institute of Child Health & Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 656-7540 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. 617. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: Kenneth L. Jones, M.D.; W.B. Saunders Co., 1988. Pp. 377. GREIG CEPHALOPOLSYNDACTYLY: REPORT OF 13 AFFECTED INDIVIDUALS IN THREE FAMILIES. M. Baraiter et al.; CLIN GENET, (October 1983; issue 24 (4)). Pp. 257-265. CHROMOSOMAL LOCALISATION OF A DEVELOPMENTAL GENE IN MAN: DIRECT DNA ANALYSIS DEMONSTRATES THAT GREIG CEPHALOPOLYSYNDACTYLY MAPS TO 7p13 L. Brueton et al.; AM J MED GENET, (December 1988; issue 31 (4)). Pp. 799-804. THE GREIG CEPHALOPOLYSYNDACTYLY SYNDROME: REPORT OF A FAMILY AND REVIEW OF THE LITERATURE. T. Gallop et al.; AM J MED GENET, (September 1985; issue 22 (1)). Pp. 59-68. EVALUATION OF A UNIFORM OPERATIVE TECHNIQUE TO TREAT SYNDACTYLY. D. Keret et al.; J HAND SURG, (September 1987; issue 12 (5 Pt 1)). Pp. 727-729.