$Unique_ID{BRK04079} $Pretitle{} $Title{Pallister-W Syndrome} $Subject{Pallister-W Syndrome W Syndrome Oto-Palato-Digital Syndrome Frontometaphyseal Dysplasia Larsen Syndrome Oro-Facial-Digital Syndrome} $Volume{} $Log{} Copyright (C) 1992 National Organization for Rare Disorders, Inc. 900: Pallister-W Syndrome ** IMPORTANT ** It is possible that the main title of the article (Pallister-W 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 W Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Oto-Palato-Digital Syndrome Frontometaphyseal Dysplasia Larsen Syndrome Oro-Facial-Digital 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. Pallister-W Syndrome is an X-linked recessive genetic disorder or an autosomal dominant condition that is apparent at birth. Major symptoms may include unusual facial clefting, broad based nose, widely spaced slanting eyes and seizures. Mental retardation, speech problems, and bone deformities of the arms and legs can also occur. Symptoms Pallister-W Syndrome is apparent at birth. It is characterized by widely- spaced eyes, broad, flat nasal bridge, central clefting of the palate or upper lip, seizures and mental retardation. There may also be bone abnormalities in the arms and legs. Cowlick (hair that does not lie flat on the head), missing teeth, a high forehead and slanting of the eyelids has also been noted. Causes The exact cause of Pallister-W Syndrome is not known. The disorder is thought to be caused either by X-linked recessive or autosomal dominant genetic transmission. Males are affected more severely than females. 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 the 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. In 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 Pallister-W Syndrome is a very rare disorder. It affects males and females in equal numbers. However, males are more severely affected than females. Related Disorders Symptoms of the following disorders can be similar to those of Pallister-W Syndrome. Comparisons may be useful for a differential diagnosis: Oto-Palato-Digital Syndrome, Types I and II, characteristically affect males more severely than females. Clefting of the palate, slanting of the eyes, abnormalities of the face, fingers and toes, and speech problems occur. (For more information on this disorder, choose "Oto-Palato-Digital" as your search term in the Rare Disease Database). Frontometaphyseal Dysplasia is a rare genetic disorder characterized by coarse facial features that include a wide nasal bridge, widely spaced eyes, overgrowth of the bone over the eyes, a small jawbone and incomplete development of the sinuses. Multiple deformities of the teeth and bones may also be present. Occasionally mental retardation may occur. Larsen Syndrome is a multi-system genetic disorder that is present at birth. It is characterized by multiple bone dislocations and abnormalities, an extremely high arch of the foot, non-tapering cylindrically shaped fingers, and an unusual facial appearance. In some cases short stature, heart problems, cleft palate or lips, deafness and/or mental retardation may occur. This disorder is inherited through an autosomal dominant or recessive trait. (For more information on this disorder, choose "Larsen" as your search term in the Rare Disease Database). Oro-Facial-Digital Syndrome is a rare genetic disorder in which there have been four types identified. Symptoms common to all types include episodes of neuromuscular disturbances, split tongue, splits in the jaw, midline cleft lip, overgrowth of the membrane that supports the tongue, a broad based nose, vertical folds of the skin covering the inner angle where the eyelids meet (epicanthic folds), more than the normal number of fingers and/or toes, shorter than normal fingers and/or toes, and more than the normal number of divisions between skull sections. (For more information on this disorder, choose "Oro-Facial-Digital" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Pallister-W Syndrome may consist of surgery to repair the clefting of the palate and lip. Anti-seizure medication may be prescribed to control seizures, and surgery to repair deformities of the arms and legs may also be necessary. Special education and related services will be helpful in school, and speech therapy may be required after surgical repair of the cleft palate. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of birth defects in the future. This disease entry is based upon medical information available through March 1992. 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 Pallister-W Syndrome, please contact" National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institutes of Child Health and Human Development 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 Street, Suite 215 Dallas, TX 75204 (800) 535-3643 Let's Face It Box 711 Concord, MA 01742 (508) 371-3186 National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 American Cleft Palate Cranial Facial Association 1218 Granview Ave. Pittsburgh, PA 15211 (412) 681-1376 (800) 24CLEFT National Foundation for Facial Reconstruction 550 First Ave. New York, NY 11016 (212) 340-6656 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 MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1703. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1354-55.